The ABCD1 Variant Database
The ABCD1 Variant Database reports all variants in accordance with the nomenclature recommended by the Human Genome Variation Society. All variants, including those that have been published in the past, are annotated using Alamut software. The transcript NM_000033.3 on GRCh37 (hg19) is used as the reference sequence. The ABCD1 Variant Database is a community-driven project. Its strength lies in its collaborative nature, with diagnostic laboratories, researchers, and physicians able to contribute new variants and updates regarding pathogenicity. If you use the ABCD1 Variant Database as a reference guide, then please share ABCD1 variants and/or updates regarding pathogenicity with the ABCD1 Variant Database. This will help us to continuously make improvements (your contribution will be acknowledged).
Because ABCD1 pathogenic variants have no predictive value with respect to the clinical outcome of an individual patient, no phenotypic information is provided. Instead, we report cases. An ALD case is defined as an individual who has been diagnosed with clinical signs and symptoms related to ALD (adrenal disease, myeloneuropathy and/or cerebral ALD), and a biochemical or genetic confirmation. Where available in the scientific literature, experimental data were extracted supporting the pathogenicity of a particular variant.
| Chromosome position | Variant | Consequence | Exon | Remark |
|---|---|---|---|---|
| 152990663 | c.-59C>T | 5′ UTR | Benign, based on frequency of 11/150 (48) and 2021/21540 in non-ALD alleles (323). | |
| 152990674 | c.-48G>T | 5′ UTR | VUS, frequency 1/21358 in non-ALD alleles (323). | |
| 152990679 | c.-43A>T | 5′ UTR | Likely benign, based on frequency 5/62771 in non-ALD alleles (323). | |
| 152990690 | c.-32C>G | 5′ UTR | VUS, frequency 3/56057 in non-ALD alleles (323). | |
| 152990698 | c.-24_57delinsA | p.0? (no translation initiation) | 5′ UTR | Likely pathogenic, identified in a single ALD case (33). |
| 152990700 | c.-22C>T | p.0? upstream ATG (out of frame) |
5′ UTR | Pathogenic, identified in a single ALD case (32). Affects ALDP stability in patient cells (32). |
| 152990700 | c.-22C>G | 5′ UTR | VUS, frequency 1/58967 in non-ALD alleles | |
| 152990702 | c.-20C>T | 5′ UTR | Benign, based on frequency of 54/7419 in South Asian non-ALD alleles (323). | |
| 152990705 | c.-17_8del | p.0? (no translation initiation) | 5′ UTR | Pathogenic, identified in 21 ALD cases (extensive pedigree analysis (45)). No detectable ALDP in patient cells (45). |
| 152990706 | c.-16_10del | p.0? (no translation initiation) | 5′ UTR | Likely pathogenic, identified in a single ALD case (266). |
| 152990712 | c.-10C>T | 5′ UTR | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. | |
| 152990714 | c.-8C>T | 5′ UTR | VUS, frequency 2/66873 in non-ALD alleles (323) | |
| 152990718 | c.-4_5delins10 | p.? | 5′ UTR / exon 1 | Likely pathogenic, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152990722 | c.1A>G | p.Met1Val (no translation initiation) |
exon 1 | Pathogenic, identified in 23 ALD cases (32, 102, 139, 141, 218, 266). No detectable ALDP in patient cells (102, 139, 141). |
| 152990722 | c.1A>T | p.Met1Val (no translation initiation) |
exon 1 | Likely pathogenic, identified in a single ALD case (160). |
| 152990723 | c.2T>A | p.Met1Lys (no translation initiation) |
exon 1 | Pathogenic, identified in 5 ALD cases (58). No detectable ALDP in patient cells (58). |
| 152990724 | c.3G>A | p.Met1Ile (no translation initiation) |
exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152990724 | c.3G>C | p.Met1Ile (no translation initiation) |
exon 1 | Likely pathogenic, identified in a single ALD case (73). |
| 152990724 | c.3G>T | p.Met1Ile (no translation initiation) |
exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990730 | c.9del | p.Leu4Serfs*12 | exon 1 | Pathogenic, identified in ALD newborn screening (295). Deleterious mutation. |
| 152990731 | c.10dup | p.Leu4Profs*191 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152990737 | c.16del | p.Arg6Glyfs*10 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152990737 | c.16_22delinsCT | p.Arg6Leufs*187 | exon 1 | Pathogenic, identified in 2 ALD cases (200, 266). Deleterious mutation. |
| 152990740 | c.19C>T | p.Pro7Ser | exon 1 | VUS, frequency 1/21371 in non-ALD alles (323). |
| 152990741 | c.20C>A | p.Pro7His | exon 1 | VUS, frequency 1/81880 in non-ALD alleles (323) |
| 152990742 | c.21_64del | p.Arg8Glyfs*172 | exon 1 | Pathogenic, identified in 1 ALD case (274). Deleterious mutation. |
| 152990743 | c.22C>T | p.Arg8Trp | exon 1 | VUS, 2 ClinVar entries, but no clinical info provided (266). |
| 152990750 | c.29G>A | p.Trp10* | exon 1 | Pathogenic, 2 ClinVar entries, but no clinical info presented, but deleterious mutation (266). |
| 152990751 | c.30G>A | p.Trp10* | exon 1 | Pathogenic, identified in 4 ALD cases (7, 58, 266). No detectable ALDP in patient cells (7). |
| 152990751 | c.30G>C | p.Trp10Cys | exon 1 | VUS, frequency 1/81065 in non-ALD alleles (323). |
| 152990752 | c.31C>G | p.Arg11Gly | exon 1 | Likely benign, based on frequency 4/105399 in non-ALD alleles (323). |
| 152990752 | c.31_46del | p.Arg11Serfs*52 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152990753 | c.32G>C | p.Arg11Pro | exon 1 | VUS, frequency 1/21315 in non-ALD alleles (323). |
| 152990757 | c.36del | p.Asn13Thrfs*3 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152990757 | c.36dupG | p.Asn13Glufs*182 | exon 1 | Pathogenic, identified in a single ALD case (32). Deleterious mutation. |
| 152990759 | c.38A>C | p.Asn13Thr | exon 1 | Benign variant based on frequency 287/107168 in non-ALD alleles (323), confirmed by biochemical testing (48). |
| 152990761 | c.40A>G | p.Thr14Ala | exon 1 | Likely benign variant based on frequency 7/86193 in non-ALD alles (323). |
| 152990762 | c.41C>G | p.Thr14Arg | exon 1 | Benign variant based on frequency 43/108014 in non-ALD alleles (323). |
| 152990767 | c.[46A>T; 706C>T] | p.[Lys16*; Arg236Cys] | exon 1 | Pathogenic, identified in 2 ALD cases (33). p.Lys16* is a deleterious mutation. Clinical significance of p.Arg236Cys is unclear. |
| 152990770 | c.49C>T | p.Arg17Cys | exon 1 | VUS, frequency 1/88398 in non-ALD alleles (323). |
| 152990771 | c.50G>A | p.Arg17His | exon 1 | Benign variant, confirmed by biochemical testing (139). |
| 152990772 | c.51_54dup | p.Ala19Hisfs*177 | exon 1 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 152990774 | c.53C>A | p.Thr18Lys | exon 1 | VUS, frequency 1/88508 in non-ALD alleles (323). |
| 152990774 | c.53C>T | p.Thr18Met | exon 1 | Benign variant confirmed by biochemical testing (320) normal C26:0-LPC in plasma |
| 152990776 | c.55G>T | p.Ala19Ser | exon 1 | Benign variant, confirmed by biochemical testing (104). |
| 152990778 | c.57del | p.Val20Cysfs*48 | exon 1 | Pathogenic, identified in a single ALD case (16). No detectable ALDP in patient cells (146). |
| 152990788 | c.67_83del | p.Ala23Serfs*166 | exon 1 | Pathogenic, identified in a single ALD case (71). Deleterious mutation. |
| 152990791 | c.70del | p.Leu24Serfs*44 | exon 1 | Pathogenic, identified in 2 ALD cases (266, 289). Deleterious mutation. |
| 152990801 | c.80A>C | p.Tyr27Ser | exon 1 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. Variant not present in unaffected male family member. |
| 152990809 | c.88dup | p.His30Profs*165 | exon 1 | Pathogenic, identified in 2 ALD cases (189). Deleterious mutation. |
| 152990813 | c.92A>G | p.Lys31Arg | exon 1 | Likely benign variant based on frequency 10/92340 in non-ALD alleles (323). |
| 152990815 | c.94_95dup | p.Tyr33Serfs*36 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152990816 | c.95T>C | p.Val32Ala | exon 1 | VUS, frequency 1/88007 in non-ALD alleles (323). |
| 152990816 | c.95del | p.Val32Alafs*36 | exon 1 | Pathogenic, identified in a single ALD case (283). Deleterious mutation. |
| 152990817 | c.96_97del | p.Tyr33Profs*161 | exon 1 | Pathogenic, identified in a single ALD case (257). Deleterious mutation. |
| 152990818 | c.97_100del | p.Tyr33Profs*34 | exon 1 | Pathogenic, identified in a single ALD case (48). Deleterious mutation. |
| 152990820 | c.99C>A | p.Tyr33* | exon 1 | Pathogenic, identified in a single ALD case (105). Deleterious mutation. |
| 152990820 | c.99_102del | p.Pro34Trpfs*33 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152990821 | c.100C>T | p.Pro34Ser | exon 1 | Likely benign based on frequency 4/112890 in non-ALD alleles (323). |
| 152990823 | c.102del | p.Leu35Trpfs*33 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152990823 | c.102dup | p.Val36Glyfs*159 | exon 1 | Pathogenic, identified in a single ALD case (120). Deleterious mutation. |
| 152990823 | c.102delinsAT | p.Leu35Phefs*160 | exon 1 | Pathogenic, identified in a single ALD case (24). Deleterious mutation. |
| 152990825 | c.104del | p.Leu35Trpfs*33 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152990830 | c.109C>T | p.Arg37Cys | exon 1 | VUS, frequency 1/893438 in non-ALD alleles (323). |
| 152990830 | c.109C>G | p.Arg37Gly | exon 1 | Likely pathogenic, identified in a single ALD case (32). |
| 152990831 | c.110_17del | p.Arg37Profs*155 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 72). Deleterious mutation. |
| 152990833 | c.112C>T | p.Gln38* | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990836 | c.115_31delinsGCA | p.Cys39Lysfs*151 | exon 1 | Pathogenic, identified in a single ALD case (60). No detectable ALDP in patient cells (60). |
| 152990840 | c.119_47del | p.Leu40Argfs*145 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152990842 | c.121del | p.Ala41Profs*27 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152990846 | c.125delC | p.Pro42Argfs*26 | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152990846 | c.125C>T | p.Pro42Leu | exon 1 | VUS, frequency 2/86080 in non-ALD alleles (323). |
| 152990846 | c.125_26insC | p.Ala43Glyfs*152 | exon 1 | Pathogenic, identified in 3 ALD cases (33, 49). Deleterious mutation. |
| 152990859 | c.138_39insT | p.Gln47Serfs*148 | exon 1 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. |
| 152990860 | c.139C>T | p.Gln47* | exon 1 | Pathogenic, identified in 6 ALD cases (33, 58, 105, 225, 274). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152990860 | c.139del | p.Gln47Argfs*21 | exon 1 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 152990864 | c.143_155delinsAG | p.Ala48Glufs*143 | exon 1 | Pathogenic, identified in 3 ALD cases (200, 250). Deleterious mutation. |
| 152990864 | c.143C>T | p.Ala48Val | exon 1 | VUS, frequency 2/21376 in non-ALD alleles (323). |
| 152990867 | c.146_159del | p.Pro49Hisfs*141 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152990871 | c.150dup | p.Gly51Argfs*144 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152990872 | c.151G>A | p.Gly51Arg | exon 1 | VUS, frequency 1/92792 in non-ALD alleles (323). |
| 152990875 | c.154G>T | p.Glu52* | exon 1 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 152990875 | c.154dup | p.Glu52Glyfs*143 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990876 | c.155_56insG | p.Pro53Alafs*142 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990881 | c.160_170del | p.Thr54Leufs*137 | exon 1 | Pathogenic, identified in a single ALD case (311). Deleterious mutation. |
| 152990884 | c.163C>T | p.Gln55* | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152990890 | c.169G>A | p.Ala57Thr | exon 1 | Likely benign, based on frequency 6/126246 in non-ALD alleles (323). |
| 152990894 | c.173C>G | p.Ser58Cys | exon 1 | Likely benign, based on frequency 4/106927 in non-ALD alleles (323). |
| 152990894 | c.173C>T | p.Ser58Phe | exon 1 | Likely benign, based on frequency 10/106927 in non-ALD alleles (323). |
| 152990902 | c.181G>A | p.Ala61Thr | exon 1 | Benign, based on frequency 18/127289 in non-ALD alleles (323). |
| 152990906 | c.185C>T | p.Ala62Val | exon 1 | VUS, frequency 1/112849 in non-ALD alleles (323). |
| 152990926 | c.205delC | p.Arg69Glyfs*34 | exon 1 | Pathogenic, identified in a single ALD case (273). Deleterious mutation. |
| 152990927 | c.206G>A | p.Arg69Gln | exon 1 | VUS, frequency 1/21537 in non-ALD alleles (323). |
| 152990929 | c.208G>A | p.Val70Ile | exon 1 | VUS, frequency 2/120391 in non-ALD alleles (323). |
| 152990929 | c.208G>C | p.Val70Ile | exon 1 | VUS, 6 ClinVar entries, but no clinical info provided (266). |
| 152990938 | c.217C>T | p.Gln73* | exon 1 | Pathogenic, identified in 3 ALD cases (220, 311). Deleterious mutation. |
| 152990941 | c.220C>T | p.Arg74Trp | exon 1 | Pathogenic, identified in 9 ALD cases (32, 88, 97, 141, 290). Reduced (7% of control cells) ALDP in patient cells (97). |
| 152990942 | c.221G>A | p.Arg74Gln | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990942 | c.221G>T | p.Arg74Leu | exon 1 | VUS, no clinical info provided (266). |
| 152990944 | c.223_40dup | p.Trp77_Leu82dup | exon 1 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 152990946 | c.225_42del | p.Trp77_Leu82del | exon 1 | Pathogenic, identified in 5 ALD cases (58, 111, 191, 315). No detectable ALDP in patient cells (58). |
| 152990950 | c.229_237delTGGCTCCTG | p.Trp77_Leu79del | exon 1 | Likely pathogenic, identified in 1 ALD case (284) and 3 times in ALD newborn screening (274, 294). Predicted to be deleterious, but has not yet been associated with disease. |
| 152990950 | c.229_237dup | p.Trp77_Leu79dup | exon 1 | Likely pathogenic, identified in a single ALD case (306). |
| 152990952 | c.231G>A | p.Trp77* | exon 1 | Pathogenic, idenitified in 4 ALD cases (201). Deleterious mutation. |
| 152990953 | c.232_40del | p.Arg80_Leu82del | exon 1 | Pathogenic, identified in 2 ALD cases (38, 58). No detectable ALDP in patient cells (58). |
| 152990955 | c.234_42del | p.Arg80_Leu82del | exon 1 | Pathogenic, identified in 7 ALD cases (33, 200, 267, 274). Deleterious mutation. |
| 152990955 | c.234_42dupCCTGCGGCT | p.Arg80_Leu82dup | exon 1 | Pathogenic, identified in 5 ALD cases (33, 186). Deleterious mutation. |
| 152990959 | c.238C>T | p.Arg80Trp | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990961 | c.240_41insTTTGCG | p.Arg80_Leu81insPheAla | exon 1 | Pathogenic, identified in a single ALD case (27). Deleterious mutation. |
| 152990961 | c.240_41insTCCTGCGGC | p.Arg80_Leu81insSerCysGly | exon 1 | Pathogenic, identified in 2 ALD cases (64, 132). Deleterious mutation. |
| 152990962 | c.241C>G | p.Leu81Val | exon 1 | VUS, frequency 2/109810 in non-ALD alleles (323). |
| 152990964 | c.244_245insCTGCGGCTC | p.Leu81_Leu82insProAlaAla | exon 1 | Pathogenic, identified in 4 ALD cases (28, 33). Deleterious mutation. (Originally reported as: c.243-44insCCTGCGGCT) |
| 152990969 | c.248del | p.Phe83Serfs*20 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990971 | c.250C>T | p.Pro84Ser | exon 1 | Likely pathogenic, identified in a single ALD case (90). |
| 152990972 | c.251C>T | p.Pro84Leu | exon 1 | Pathogenic, identified in 6 ALD cases (33, 191, 220, 292). |
| 152990974 | c.253C>T | p.Arg85Trp | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990974 | c.253dup | p.Arg85Profs*110 | exon 1 | Pathogenic, identified in 23 ALD cases (33, 49, 60, 62, 119, 138, 155, 253, 266, 274, 302, 312, 315). No detectable ALDP in patient cells (60). |
| 152990974 | c.253del | p.Arg85Glyfs*18 | exon 1 | Pathogenic, identified in 4 ALD cases (58, 267, 314). Deleterious mutation. |
| 152990975 | c.254G>T | p.Arg85Leu | exon 1 | VUS, no clinical info provided (266). |
| 152990975 | c.254G>C | p.Arg85Pro | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990975 | c.254_900+760del | p.Val86Glyfs*99 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152990977 | c.256G>A | p.Val86Ile | exon 1 | VUS, frequency 1/120092 in non-ALD alles (323). |
| 152990977 | c.256dup | p.Val86Glyfs*109 | exon 1 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 152990978 | c.257_268dup | p.Val86_Arg89dup | exon 1 | Pathogenic, identified in a single ALD case (223). Deleterious mutation. |
| 152990983 | c.262T>C | p.Cys88Arg | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152990984 | c.263G>T | p.Cys88Phe | exon 1 | VUS, identified in ALD newborn screening (309), but has not yet been associated with disease. |
| 152990985 | c.264C>A | p.Cys88* | exon 1 | Pathogenic, identified in 2 ALD cases (33, 294). Deleterious mutation. |
| 152990986 | c.265C>T | p.Arg89Trp | exon 1 | Likely benign, based on frequency 4/106927 in non-ALD alleles (323). |
| 152990987 | c.266G>A | p.Arg89Gln | exon 1 | VUS, frequency 2/21458 in non-ALD alleles (323). |
| 152990989 | c.268G>A | p.Glu90Lys | exon 1 | Pathogenic, identified in 2 ALD cases (49). |
| 152990989 | c.268G>T | p.Glu90* | exon 1 | Pathogenic, identified in a single ALD case (141). No detectable ALDP in patient cells (141). |
| 152990989 | c.268del | p.Glu90Argfs*13 | exon 1 | Pathogenic, identified in a single ALD case (279). Deleterious mutation. |
| 152990991 | c.270_71del | p.Glu90Aspfs*104 | exon 1 | Pathogenic, identified in 2 ALD cases (93). Deleterious mutation. |
| 152990993 | c.272C>G | p.Thr91Arg | exon 1 | VUS, no clinical info provided (266). |
| 152990995 | c.274G>A | p.Gly92Arg | exon 1 | Benign variant based on its frequency of 18/154166 in non-ALD alleles (323). |
| 152990995 | c.275G>C | p.Gly92Arg | exon 1 | Benign, same consequence as c.274G>A, frequency 1/21507 in non-ALD alleles (323). |
| 152990995 | c.274_311del | p.Gly92Hisfs*90 | exon 1 | Pathogenic, identified in 3 ALD cases (4, 158). Deleterious mutation. |
| 152990996 | c.275G>T | p.Gly92Val | exon 1 | VUS, frequency 2/133112 in non-ALD alleles (323). |
| 152990997 | c.276delG | p.Leu93Cysfs*10 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation |
| 152990998 | c.277del | p.Leu93Cysfs*10 | exon 1 | Pathogenic, identified in a single ALD case (16). Deleterious mutation. |
| 152990998 | c.277_96dup | p.Ala100Cysfs*10 | exon 1 | Pathogenic, identified in 2 ALD cases (111, 149). Deleterious mutation. |
| 152991001 | c.280_81insGAGACGGGGCTG | p.Leu94delinsArgAspGlyAlaVal | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152991004 | c.283_284ins9 | p.Ala95fs*11 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152991005 | c.284C>A | p.Ala95Asp | exon 1 | Pathogenic, identified in 6 ALD cases. No detectable ALDP in patient cells (109). |
| 152991008 | c.287_88insCC | p.His97Argfs*7 | exon 1 | Pathogenic, identified in a single ALD case (40). Deleterious mutation. |
| 152991011 | c.290A>C | p.His97Pro | exon 1 | Pathogenic, identified in 6 ALD cases (33, 142, 170, 216, 266). |
| 152991011 | c.290A>G | p.His97Arg | exon 1 | VUS, no clinical info provided (266). |
| 152991011 | c.290A>T | p.His97Leu | exon 1 | Benign, confirmed by biochemical testing (109). |
| 152991013 | c.292T>C | p.Ser98Pro | exon 1 | Pathogenic, identified in a single ALD case (58). Reduced ALDP in patient cells (58). |
| 152991014 | c.293C>A | p.Ser98* | exon 1 | Pathogenic, identified in 7 ALD cases (32, 105, 217, 318). Deleterious mutation. |
| 152991014 | c.293C>T | p.Ser98Leu | exon 1 | Pathogenic, identified in 18 ALD cases (7, 33, 48, 49, 58, 98, 243, 265, 284, 299, 316). Normal ALDP level in patient cells (7), but non-functional. |
| 152991014 | c.293C>G | p.Ser98Trp | exon 1 | Pathogenic, identified in 3 ALD cases (41). |
| 152991015 | c.294G>T | p.Ser98Ser | exon 1 | Synonymous (X:152991015 G/T). |
| 152991015 | c.294_95insC | p.Ala99Argfs*96 | exon 1 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 152991016 | c.295_98dup | p.Ala100Glyfs*96 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991017 | c.296C>A | p.Ala99Asp | exon 1 | Likely pathogenic, identified in a single ALD case (48). |
| 152991019 | c.298del | p.Ala100Profs*3 | exon 1 | Pathogenic, identified in a single ALD case (28). Deleterious mutation. |
| 152991019 | c.298G>A | p.Ala100Thr | exon 1 | VUS, frequency 2/143442 in non-ALD alleles (323). |
| 152991020 | c.299C>T | p.Ala100Val | exon 1 | VUS, frequency 2/144797 in non-ALD alleles (323). |
| 152991022 | c.301T>A | p.Lys101Met | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991026 | c.305T>A | p.Val102Glu | exon 1 | Likely pathogenic, identified in a single ALD case (60). |
| 152991030 | c.309C>G | p.Ser103Arg | exon 1 | Pathogenic, identified in 2 ALD cases (29, 53). Reduced ALDP in patient cells (53). |
| 152991031 | c.310C>T | p.Arg104Cys | exon 1 | Pathogenic, identified in 21 ALD cases (13, 16, 33, 42, 62, 97, 125, 146, 191, 274, 289, 292, 319). Reduced ALDP (35% of control cells) in patient cells (33, 97, 146) and deficient beta-oxidation (261). |
| 152991032 | c.311G>A | p.Arg104His | exon 1 | Pathogenic, identified in 12 ALD cases (4, 32, 33, 47, 49, 132, 137, 234, 274, 289). |
| 152991032 | c.311G>T | p.Arg104Leu | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991032 | c.311G>C | p.Arg104Pro | exon 1 | Likely pathogenic, identified in a single ALD case (114). |
| 152991034 | c.313A>C | p.Thr105Pro | exon 1 | Pathogenic, identified in 4 ALD cases (33, 38, 158). |
| 152991034 | c.313A>G | p.Thr105Ala | exon 1 | Likely pathogenic, identified in a single ALD case (292). |
| 152991035 | c.314C>G | p.Thr105Ser | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991035 | c.314C>T | p.Thr105Ile | exon 1 | Likely pathogenic, identified in a single ALD case (7) and 1x in ALD NBS (274). Affects ALDP in patient cells (7). |
| 152991040 | c.319del | p.Leu107Cysfs*91 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991041 | c.320T>C | p.Leu107Pro | exon 1 | Pathogenic, identified in 13 ALD cases (15, 178, 214). |
| 152991041 | c.320T>G | p.Leu107Arg | exon 1 | Likely pathogenic, identified in a single ALD case (88). |
| 152991044 | c.323C>A | p.Ser108* | exon 1 | Pathogenic, identified in 4 ALD cases (33, 56, 60, 93). No detectable ALDP in patient cells (60). |
| 152991044 | c.[323C>A; 775C>T] | p.[Ser108*; Arg259Trp] | exon 1 | Pathogenic, identified in a single ALD case (86). p.Ser108* is deleterious. |
| 152991044 | c.323C>T | p.Ser108Leu | exon 1 | Pathogenic, identified in 14 ALD cases (33, 34, 53, 62, 90, 137, 156, 191, 235). Normal ALDP level in patient cells (53), but non-functional. |
| 152991044 | c.323C>G | p.Ser108Trp | exon 1 | Pathogenic, identified in 3 ALD cases (7, 27, 53). Reduced ALDP in patient cells (7). |
| 152991046 | c.325del | p.Val109Cysfs*89 | exon 1 | Pathogenic, identified in 3 ALD cases (32). Deleterious mutation. |
| 152991047 | c.326T>C | p.Val109Ala | exon 1 | VUS, frequency 1/153725 in non-ALD alleles (323). |
| 152991052 | c.331_351dup | p.Val111_Arg117dup | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991058 | c.337delC | p.Arg113Alafs*85 | exon 1 | Pathogenic, identified in 7 ALD cases (32, 49, 62, 141). No detectable ALDP in patient cells (49, 97, 141). |
| 152991058 | c.337C>T | p.Arg113Cys | exon 1 | Likely pathogenic, identified in a single ALD cases (49). |
| 152991059 | c.338G>C | p.Arg113Pro | exon 1 | Pathogenic, identified in 4 ALD cases (33, 49). |
| 152991062 | c.341T>C | p.Leu114Pro | exon 1 | Pathogenic, identified in 4 ALD cases (33, 53, 302). Reduced ALDP in patient cells (53). |
| 152991067 | c.346G>T | p.Gly116* | exon 1 | Pathogenic, identified in 3 ALD cases (137, 200). Deleterious mutation. |
| 152991067 | c.346G>A | p.Gly116Arg | exon 1 | Pathogenic, identified in 18 ALD cases (7, 29, 32, 33, 58, 145, 221, 263, 266, 274, 289, 294). Reduced ALDP in patient cells (7) and deficient beta-oxidation (261). Mutation affects protein-protein interaction (262). |
| 152991067 | c.346G>C | p.Gly116Arg | exon 1 | Pathogenic, identified in 4 ALD cases (33, 239, 240, 266). |
| 152991068 | c.347_48delGAinsAT | p.Gly116Asp | exon 1 | Likely pathogenic, identified in a single ALD case (120). |
| 152991068 | c.347G>A | p.Gly116Glu | exon 1 | Pathogenic, identified in 3 ALD cases (57, 87, 88) |
| 152991073 | c.352delCT | p.Leu118Glyfs*76 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152991076 | c.355del | p.Ala119Profs*79 | exon 1 | Pathogenic, identified in 2 ALD cases (178). Deleterious mutation. |
| 152991076 | c.355G>T | p.Ala119Ser | exon 1 | VUS, frequency 1/168250 in non-ALD alleles (323). |
| 152991077 | c.356C>A | p.Ala119Asp | exon 1 | Pathogenic, identified in 2 ALD cases (33). |
| 152991079 | c.358dup | p.Arg120Profs*75 | exon 1 | Pathogenic, identified in a single ALD case (292). Deleterious mutation. |
| 152991079 | c.358C>G | p.Arg120Gly | exon 1 | VUS, frequency 1/165442 in non-ALD alleles (323). |
| 152991079 | c.358C>T | p.Arg120Cys | exon 1 | VUS, frequency 1/169167 in non-ALD alleles (323). |
| 152991080 | c.359G>A | p.Arg120His | exon 1 | VUS, no clinical info provided (266). |
| 152991080 | c.359G>C | p.Arg120Pro | exon 1 | Pathogenic, identified in 5 ALD cases (60). Normal ALDP level in patient cells (60), but non-functional. |
| 152991089 | c.368C>T | p.Ala123Val | exon 1 | This was a sequence error in original sequence (18) |
| 152991092 | c.371G>C | p.Arg124Pro | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991092 | c.371G>A | p.Arg124His | exon 1 | VUS, frequency 1/21546 in non-ALD alleles (323). |
| 152991096 | c.375_78del | p.Lys125Asnfs*72 | exon 1 | Pathogenic, identified in 2 ALD cases (123, 318). Deleterious mutation. |
| 152991103 | c.382C>T | p.Arg128Trp | exon 1 | VUS, frequency 1/175509 in non-ALD alleles (323) |
| 152991104 | c.383G>C | p.Arg128Pro | exon 1 | VUS. frequency 3/171978 in non-ALD alleles (323). |
| 152991104 | c.383G>A | p.Arg128Gln | exon 1 | VUS, frequency 3/193580 in non-ALD alleles (323). |
| 152991106 | c.385dup | p.Ala129Glyfs*66 | exon 1 | Pathogenic, identified in 2 ALD cases (59, 64). Deleterious mutation. |
| 152991107 | c.386C>A | p.Ala129Asp | exon 1 | VUS, frequency 2/198126 in non-ALD alleles (323). |
| 152991108 | c.387del | p.Phe130Leufs*68 | exon 1 | Pathogenic, identified in a single ALD case (29). Deleterious mutation. |
| 152991110 | c.389T>G | p.Phe130Cys | exon 1 | VUS, frequency 1/21683 in non-ALD alleles (323). |
| 152991111 | c.390dup | p.Gly131Trpfs*64 | exon 1 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 152991112 | c.391G>C | p.Gly131Arg | exon 1 | VUS, frequency 1/172406 in non-ALD alleles (323). |
| 152991113 | c.392G>T | p.Gly131Val | exon 1 | Benign, based on frequency of 14/175576 in non-ALD alleles (323). |
| 152991116 | c.395G>A | p.Trp132* | exon 1 | Pathogenic, identified in 3 ALD cases (71, 94, 319). Deleterious mutation. |
| 152991117 | c.396G>A | p.Trp132* | exon 1 | Pathogenic, identified in 8 ALD cases (33, 52, 59, 64, 100, 132, 137). Deleterious mutation. |
| 152991118 | c.397C>T | p.Gln133* | exon 1 | Pathogenic, identified in 11 ALD patient (16, 32, 33, 49, 141, 284). No detectable ALDP in patient cells (49, 141). |
| 152991122 | c.401T>G | p.Leu134Arg | exon 1 | Likely pathogenic, identified in a single ALD case (95). |
| 152991122 | c.401_05delinsAGCATT | p.Leu134Glnfs*61 | exon 1 | Pathogenic, identified in a single ALD case (19). Deleterious mutation. |
| 152991127 | c.406C>T | p.Gln136* | exon 1 | Pathogenic, identified in 2 ALD cases (33, 266). Deleterious mutation. |
| 152991128 | c.407_458dup | p.Tyr153* | exon 1 | Pathogenic, identified in a single ALD case (284). Deleterious mutation. |
| 152991128 | c.407A>G | p.Gln136Arg | exon 1 | VUS, frequency 1/172655 in non-ALD alleles (323) |
| 152991129 | c.408del | p.Gln136Hisfs*62 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991131 | c.410G>A | p.Trp137* | exon 1 | Pathogenic, identified in 4 ALD cases (96, 98, 252). Deleterious mutation. |
| 152991132 | c.411G>A | p.Trp137* | exon 1 | Pathogenic, identified in 7 ALD cases (16, 33, 49, 58, 62, 266). No detectable ALDP in patient cells (49, 146). |
| 152991132 | c.411G>T | p.Trp137Cys | exon 1 | Pathogenic, identified in 3 ALD cases (218, 290). No detectable ALDP in patient cells (32). |
| 152991132 | c.411_12insC | p.Leu138Profs*57 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152991133 | c.412_23del | p.Leu139_Leu142del | exon 1 | Pathogenic, identified in a single ALD case (15). Deleterious mutation. |
| 152991133 | c.412_14del | p.Leu139del | exon 1 | Pathogenic, identified in 2 ALD cases (52, 96). |
| 152991142 | c.421G>A | p.Ala141Thr | exon 1 | Pathogenic, identified in 21 ALD cases (13, 59, 64, 88, 93, 111, 137, 174, 178, 220, 266). |
| 152991143 | c.422C>A | p.Ala141Asp | exon 1 | Pathogenic, identified in 4 ALD cases (224, 273). |
| 152991143 | c.422C>T | p.Ala141Val | exon 1 | Pathogenic, identified in 3 ALD cases (33, 266). |
| 152991145 | c.424del | p.Leu142Serfs*56 | exon 1 | Pathogenic, identified in a single ALD case (125). Deleterious mutation. |
| 152991145 | c.424C>G | p.Leu142Val | exon 1 | VUS, frequency 3/196447 in non-ALD alleles (323). |
| 152991147 | c.426C>T | p.Leu142Leu | exon 1 | Synonymous (X:152991147 C/T). |
| 152991148 | c.427C>G | p.Pro143Ala | exon 1 | Pathogenic, identified in 3 ALD cases (98). |
| 152991148 | c.427C>T | p.Pro143Ser | exon 1 | Pathogenic, identified in 6 ALD cases (33, 34, 38, 49, 88, 228). |
| 152991149 | c.428C>A | p.Pro143His | exon 1 | Pathogenic, identified in 2 ALD cases (58, 98). Normal ALDP level in patient cells (58), but non-functional. |
| 152991149 | c.428C>T | p.Pro143Leu | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991151 | c.430G>A | p.Ala144Thr | exon 1 | VUS, no clinical info provided (266). |
| 152991153 | c.432_46delinsCCC | p.Thr145_Ser149delinsPro | exon 1 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 152991154 | c.433A>G | p.Thr145Ala | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991157 | c.436T>A | p.Phe146Ile | exon 1 | Benign variant based on frequency 30/202220 in non-ALD alleles (323). |
| 152991157 | c.436T>G | p.Phe146Val | exon 1 | VUS, frequency 1/176235 in non-ALD alleles (323). |
| 152991159 | c.438del | p.Phe146Leufs*52 | exon 1 | Pathogenic, identified in a single case (302). Deleterious mutation. |
| 152991160 | c.439G>A | p.Val147Ile | exon 1 | VUS, frequency 2/176480 in non-ALD alleles (323). |
| 152991160 | c.439_41del | p.Val147del | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991161 | c.440T>G | p.Val147Gly | exon 1 | Pathogenic, identified in a single ALD case32). Normal ALDP level in patient cells (32), but non-functional. |
| 152991161 | c.442_444delinsTGTTGA | p.Asn148_Thr745delinsCys | exon 1 | Pathogenic, identified in 2 ALD cases (228). Deleterious mutation. |
| 152991163 | c.441_442dup | p.Val147_Asn148insIle | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991163 | c.442A>G | p.Asn148Asp | exon 1 | Pathogenic, identified in 2 ALD cases (32, 86). |
| 152991163 | c.442A>T | p.Asn148Tyr | exon 1 | Pathogenic, identified in 2 ALD cases (60, 266). Normal ALDP level in patient cells (60), but non-functional. |
| 152991164 | c.443A>G | p.Asn148Ser | exon 1 | Pathogenic, identified in 16 ALD cases (7, 8, 24, 33, 38, 60, 93, 98, 158, 192, 252, 266). Normal ALDP level in patient cells (7), but deficient beta-oxidation in patient cells (259). |
| 152991164 | c.443A>T | p.Asn148Ile | exon 1 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991167 | c.446G>A | p.Ser149Asn | exon 1 | Pathogenic, identified in 25 ALD cases (16, 32, 49, 97, 141, 146, 218). Reduced ALDP expression (77% of control cells) in patient cells (97), and deficient beta-oxidation in patient cells (290). |
| 152991168 | c.447T>A | p.Ser149Arg | exon 1 | Pathogenic, identified in 2 ALD cases (188, 231). Mutation affects targeting of ALDP in cells (188). |
| 152991172 | c.451A>G | p.Ile151Val | exon 1 | VUS, no clinical info provided (266). |
| 152991173 | c.452T>C | p.Ile151Thr | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152991175 | c.454C>A | p.Arg152Ser | exon 1 | Pathogenic, identified in 5 ALD cases (29, 33, 49). |
| 152991175 | c.454C>T | p.Arg152Cys | exon 1 | Pathogenic, identified in 21 ALD cases (7, 13, 32, 33, 49, 52, 88, 168, 245, 250, 252, 263, 266, 306, 318). Normal ALDP level in patient cells (7, 32, 49, 52), but non-functional. |
| 152991175 | c.454C>G | p.Arg152Gly | exon 1 | Likely pathogenic, identified in a single ALD case (239). |
| 152991176 | c.455G>A | p.Arg152His | exon 1 | VUS, identified in ALD newborn screening (274) and reported 1x in the gnomAD database (323) frequency 1/181577 in non-ALD alleles, but has not yet been associated with disease. |
| 152991176 | c.455G>C | p.Arg152Pro | exon 1 | Pathogenic, identified in 2 ALD cases (16, 32). Normal ALDP level in patient cells (32), but non-functional. |
| 152991176 | c.455G>T | p.Arg152Leu | exon 1 | Pathogenic, identified in 6 ALD cases (32, 33, 49, 52, 58). Reduced ALDP expression in patient cells (32, 49). |
| 152991180 | c.459C>G | p.Tyr153* | exon 1 | Pathogenic, identified in 3 ALD cases (306). Deleterious mutation. |
| 152991182 | c.461T>C | p.Leu154Pro | exon 1 | Pathogenic, identified in 3 ALD cases (33, 88). |
| 152991183 | c.462_81del | p.Glu155Valfs*33 | exon 1 | Pathogenic, identified in a single ALD case (44). Deleterious mutation. |
| 152991184 | c.463_474delinsA | p.Glu155Serfs*36 | exon 1 | Pathogenic, identified in a single ALD case (315). Deleterious mutation. |
| 152991188 | c.467G>A | p.Gly156Asp | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152991188 | c.467G>T | p.Gly156Val | exon 1 | VUS, identified in ALD newborn screening (312), but has not yet been associated with disease. |
| 152991190 | c.469C>T | p.Gln157* | exon 1 | Pathogenic, identified in 4 ALD cases (16, 32, 146). Deleterious mutation. No detectable ALDP in patient cells (146). |
| 152991193 | c.472C>G | p.Leu158Val | exon 1 | VUS, frequency 2/177870 in non-ALD alleles (323). |
| 152991194 | c.473T>C | p.Leu158Pro | exon 1 | Pathogenic, identified in 2 ALD cases (33, 125). |
| 152991196 | c.475G>A | p.Ala159Thr | exon 1 | VUS, frequency 2/199788 in non-ALD alleles (323). |
| 152991197 | c.476C>G | p.Ala159Gly | exon 1 | Likely benign, based on frequency 6/177941 in non-ALD alleles (323). |
| 152991197 | c.476_99del | p.Ala159_Leu166del | exon 1 | Pathogenic, identified in 2 ALD cases (33, 96). |
| 152991200 | c.479T>C | p.Leu160Pro | exon 1 | Pathogenic, identified in 5 ALD cases (70, 111, 158, 266, 318). |
| 152991202 | c.481T>C | p.Ser161Pro | exon 1 | Likely pathogenic, identified in a single ALD case (49). |
| 152991203 | c.482C>A | p.Ser161* | exon 1 | Pathogenic, identified in 2 ALD cases (29, 88). Deleterious mutation. |
| 152991204 | c.483del | p.Phe162Serfs*36 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991206 | c.485T>C | p.Phe162Ser | exon 1 | VUS, identified in ALD newborn screening (321), but has not yet been associated with disease. |
| 152991207 | c.487del | p.Arg163Alafs*35 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152991208 | c.487C>G | p.Arg163Gly | exon 1 | Likely pathogenic, identified in a single ALD case (163). |
| 152991208 | c.487C>T | p.Arg163Cys | exon 1 | Likely pathogenic, identified in a single ALD case (268) and 3x in ALD newborn screening (243, 294, 302). |
| 152991209 | c.488G>A | p.Arg163His | exon 1 | VUS, reported 6x in ALD newborn screening (191, 266, 274, 299), but has not yet been associated with disease. |
| 152991209 | c.488G>T | p.Arg163Leu | exon 1 | Pathogenic, identified in 2 ALD cases (33, 116). |
| 152991209 | c.488G>C | p.Arg163Pro | exon 1 | Pathogenic, identified in 9 ALD cases (33, 41, 49, 57). |
| 152991214 | c.493C>T | p.Arg165Cys | exon 1 | VUS, frequency 3/178141 in non-ALD alleles (323). |
| 152991215 | c.494del | p.Arg165Leufs*33 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152991216 | c.495_514del | p.Leu166Profs*22 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 235). Deleterious mutation. |
| 152991217 | c.496_97insG | p.Leu166Argfs*29 | exon 1 | Pathogenic, identified in 3 ALD cases (61). Deleterious mutation. |
| 152991218 | c.497T>C | p.Leu166Pro | exon 1 | Pathogenic, identified in 2 ALD cases (220). |
| 152991219 | c.498_520del | p.Val167Leufs*20 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991220 | c.499G>C | p.Val167Leu | exon 1 | VUS, identified in ALD newborn screening (298), but has not yet been associated with disease. |
| 152991227 | c.506A>C | p.His169Pro | exon 1 | Likely pathogenic, identified in a single ALD case (145). |
| 152991229 | c.508G>A | p.Ala170Thr | exon 1 | VUS, identified 5x in ALD newborn screening (274, 284) and reported 1x in the gnomAD database (323) frequency 1/182344 in non-ALD alleles, but has not yet been associated with disease. |
| 152991231 | c.510delC | p.Tyr171Thrfs*27 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991232 | c.511T>C | p.Tyr171His | exon 1 | VUS, frequency 1/178233 in non-ALD alleles (323). |
| 152991233 | c.512A>C | p.Tyr171Ser | exon 1 | Likely pathogenic, identified in a single ALD case (32). |
| 152991235 | c.514C>T | p.Arg172Cys | exon 1 | VUS, frequency 1/178298 in non-ALD alleles (323). |
| 152991235 | c.514delC | p.Arg172Alafs*26 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991235 | c.514dupC | p.Arg172Profs*23 | exon 1 | Pathogenic, identified in a single ALD case (47). Deleterious mutation. |
| 152991235 | c.514delinsGTA | p.Arg172Valfs*27 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation |
| 152991236 | c.515G>A | p.Arg172His | exon 1 | Likely benign, based on frequency 5/200163 in non-ALD alleles (323). |
| 152991236 | c.515_16insC | p.Leu173Profs*23 | exon 1 | Pathogenic, identified in 3 ALD cases (166). Deleterious mutation. No detectable ALDP in patient cells (166). |
| 152991239 | c.518T>C | p.Leu173Pro | exon 1 | Likely pathogenic, identified in a single ALD case (52). |
| 152991241 | c.520T>C | p.Tyr174His | exon 1 | Pathogenic, identified in 3 ALD cases (33, 267). |
| 152991241 | c.520T>G | p.Tyr174Asp | exon 1 | Pathogenic, identified in 4 ALD cases (8, 15, 292). |
| 152991242 | c.521A>G | p.Tyr174Cys | exon 1 | Pathogenic, identified in 39 ALD cases (29, 32, 33, 47, 49, 60, 62, 88, 93, 120, 137, 182, 239, 266, 280, 294, 306). No detectable ALDP in patient cells (32, 49, 60). Mutation affects targeting to peroxisomes (261). |
| 152991242 | c.521A>C | p.Tyr174Ser | exon 1 | Pathogenic, identified in 7 ALD cases (33, 60, 88, 145, 157, 266). Normal ALDP level in patient cells (60), but non-functional. |
| 152991243 | c.522C>G | p.Tyr174* | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991243 | c.522_24del | p.Phe175del | exon 1 | Pathogenic, identified in a single ALD case (53). Reduced ALDP expression in patient cells (53). |
| 152991245 | c.524T>A | p.Phe175Tyr | exon 1 | Pathogenic, identified in 5 ALD cases within a single family (307). Mutation cosegregates with elevated VLCFA. |
| 152991245 | c.524_26del | p.Phe175del | exon 1 | Likely pathogenic, identified in a single ALD case (32). Likely deleterious mutation. |
| 152991247 | c.526T>A | p.Ser176Thr | exon 1 | VUS, no clinical info provided (266). |
| 152991250 | c.529C>A | p.Gln177Lys | exon 1 | Likely pathogenic, identified in a single ALD case (93). |
| 152991250 | c.529C>T | p.Gln177* | exon 1 | Pathogenic, identified in 17 ALD cases (29, 32, 33, 49, 60, 62, 86, 88, 93, 137, 141, 266, 289, 290). Deleterious mutation. No detectable ALDP expression in patient cells (32, 49, 60, 141, 290). |
| 152991251 | c.530_531del | p.Gln177Profs*17 | exon 1 | Pathogenic, identified in a single ALD case (288). Deleterious mutation. |
| 152991253 | c.532C>G | p.Gln178Glu | exon 1 | Pathogenicity of the variant p.Gln178Glu is unclear. It was identified in 3 ALD cases (4, 38), but in combination with a true pathogenic mutation, p.Tyr212*. |
| 152991253 | c.[532C>G; 636C>G] | p.[Gln178Glu; p.Tyr212*] | exon 1 | Pathogenic, identified in 3 ALD cases (4, 38). |
| 152991253 | c.532C>T | p.Gln178* | exon 1 | Pathogenic, identified in 2 ALD cases (125, 284). Deleterious mutation. |
| 152991254 | c.533A>C | p.Gln178Pro | exon 1 | VUS, no clinical info provided (266). |
| 152991256 | c.535A>T | p.Thr179Ser | exon 1 | VUS, frequency 1/178372 in non-ALD alleles (323) |
| 152991258 | c.537_44dup | p.Arg182Profs*19 | exon 1 | Pathogenic, identified in 2 ALD cases (49, 266). Deleterious mutation. |
| 152991259 | c.538T>C | p.Tyr180His | exon 1 | VUS, frequency 1/182760 in non-ALD alleles (323). |
| 152991260 | c.539A>G | p.Tyr180Cys | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991261 | c.540_41insT | p.Tyr181Leufs*14 | exon 1 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP expression in patient cells (60). |
| 152991262 | c.541_42del | p.Tyr181Profs*13 | exon 1 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP expression in patient cells (7). |
| 152991263 | c.542A>T | p.Tyr181Phe | exon 1 | VUS, frequency 1/178358 in non-ALD alleles (323). |
| 152991263 | c.542A>G | p.Tyr181Cys | exon 1 | Pathogenic, identified in ALD 9 cases (7, 32, 49, 52, 88, 263, 275). No detectable ALDP in patient cells (32). |
| 152991263 | c.542dup | p.Tyr181* | exon 1 | Pathogenic, identified in a single ALD case (189). Deleterious mutation. |
| 152991264 | c.543C>A | p.Tyr181* | exon 1 | Pathogenic, identified in 9 ALD cases (16, 32, 146, 250, 290). Deleterious mutation. No detectable ALDP in patient cells (32, 146, 290). |
| 152991264 | c.543C>G | p.Tyr181* | exon 1 | Pathogenic, identified in 3 ALD cases (101). Deleterious mutation. |
| 152991265 | c.544C>G | p.Arg182Gly | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991266 | c.545G>A | p.Arg182Gln | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991266 | c.545G>C | p.Arg182Pro | exon 1 | Pathogenic, identified in 11 ALD cases (13, 33, 59, 64, 132, 137, 289). |
| 152991269 | c.548T>G | p.Val183Gly | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991274 | c.553A>G | p.Asn185Asp | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991276 | c.555C>A | p.Asn185Lys | exon 1 | VUS, frequency 1/178299 in non-ALD alleles (323). |
| 152991283 | c.562G>A | p.Gly188Arg | exon 1 | Likely benign, based on frequency 5/178202 in non-ALD alleles. |
| 152991284 | c.563G>C | p.Gly188Ala | exon 1 | VUS, frequency 1/178207 in non-ALD alleles (323). |
| 152991285 | c.564delG | p.Arg189Glyfs*9 | exon 1 | Pathogenic, identified in a single ALD case (245). Deleterious mutation. |
| 152991286 | c.565C>T | p.Arg189Trp | exon 1 | Pathogenic, identified in 28 ALD cases (29, 33, 60, 191, 266, 274, 288, 294, 302, 312, 315). Normal ALDP level in patient cells (60), but non-functional. |
| 152991287 | c.566G>A | p.Arg189Gln | exon 1 | VUS, identified 2x in ALD newborn screening (274) ) and reported 1x in the gnomAD database (323) frequency 1/182621 in non-ALD alleles, but has not yet been associated with disease. Functional studies in fibroblasts are inconclusive (290). |
| 152991290 | c.569T>C | p.Leu190Pro | exon 1 | Likely pathogenic, identified in a single ALD case (38). |
| 152991292 | c.571C>G | p.Arg191Gly | exon 1 | VUS, frequency 1/178118 in non-ALD alleles (323). |
| 152991292 | c.571C>T | p.Arg191Cys | exon 1 | VUS, frequency 1/178118 in non-ALD alleles (323). |
| 152991293 | c.572G>A | p.Arg191His | exon 1 | VUS, frequency 3/199890 in non-ALD alleles (323). |
| 152991295 | c.574A>G | p.Asn192Asp | exon 1 | Likely pathogenic, identified in 1 ALD case (245) and 1x in ALD newborn screening (303). |
| 152991297 | c.576C>A | p.Asn192Lys | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991298 | c.577C>T | p.Pro193Ser | exon 1 | VUS, frequency 1/178086 in non-ALD alleles (323). |
| 152991299 | c.578C>G | p.Pro193Arg | exon 1 | VUS, no clinical info provided (266). |
| 152991301 | c.580G>A | p.Asp194Asn | exon 1 | Pathogenic, identified in 2 ALD cases (16, 58)and ALD newborn screening (274). Affects ALDP stability in patient cells (58). |
| 152991301 | c.580G>C | p.Asp194His | exon 1 | Pathogenic, identified in 8 ALD cases (32, 58, 97, 146). Affects ALDP stability (60% of control cells (97)) in patient cells (58, 97, 146) and causes deficient beta-oxidation in fibroblasts (259). |
| 152991302 | c.581_89del | p.Asp194_Leu197delinsVal | exon 1 | Likely pathogenic, identified in a single ALD case (51). |
| 152991302 | c.581A>C | p.Asp194Ala | exon 1 | VU, frequency 1/178023 in non-ALD alleles (323). |
| 152991303 | c.582C>G | p.Asp194Glu | exon 1 | Likely pathogenic, identified in a single ALD case (32) and in 5x ALD newborn screening (274, 295). |
| 152991304 | c.583C>T | p.Gln195* | exon 1 | Pathogenic, identified in 2 ALD cases (49, 274). Deleterious mutation. |
| 152991305 | c.584A>T | p.Gln195Leu | exon 1 | VUS, identified in ALD newborn screening (302), but has not yet been associated with disease. |
| 152991305 | c.584A>G | p.Gln195Arg | exon 1 | Likely pathogenic, identified in a single ALD case (245). |
| 152991305 | c.584_585del | p.Gln195Leufs*105 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991309 | c.588_89delCT | p.Leu197Aspfs*103 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 105). Deleterious mutation. |
| 152991310 | c.589_90del | p.Leu197Aspfs*103 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 152991312 | c.591_92insT | p.Thr198Tyrfs*103 | exon 1 | Pathogenic, identified in a single ALD case (24). Deleterious mutation. |
| 152991314 | c.593C>A | p.Thr198Lys | exon 1 | Likely pathogenic, identified in a single ALD case (49). |
| 152991314 | c.593C>G | p.Thr198Arg | exon 1 | Likely pathogenic, identified in a single ALD case (96). |
| 152991314 | c.593C>T | p.Thr198Met | exon 1 | Pathogenic, identified in 12 ALD cases (33, 207, 243, 266, 284, 312). |
| 152991316 | c.595G>A | p.Glu199Lys | exon 1 | Pathogenic, identified in 2 ALD cases (33, 100). |
| 152991319 | c.598G>A | p.Asp200Asn | exon 1 | Pathogenic, identified in 2 ALD cases (24, 100). |
| 152991319 | c.598delC | p.Asp200Thrfs*16 | exon 1 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 152991320 | c.599A>T | p.Asp200Val | exon 1 | Likely pathogenic, identified in a single ALD case (7). |
| 152991321 | c.600C>A | p.Asp200Glu | exon 1 | VUS, identified in ALD newborn screening (267), has not yet been associated with disease |
| 152991321 | c.600delC | p.Asp200Glufs*16 | exon 1 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 152991322 | c.601G>A | p.Val201Met | exon 1 | Benign variant based on 34/203972 in non-ALD alleles (323). |
| 152991333 | c.612del | p.Phe204Leufs*12 | exon 1 | Pathogenic, identified in a single ALD case (145). Deleterious mutation. |
| 152991335 | c.614C>T | p.Ala205Val | exon 1 | VUS, frequency 1/180932 in non-ALD alleles (323). |
| 152991335 | c.614C>A | p.Ala205Glu | exon 1 | Pathogenic, identified in 6 ALD cases (33, 235, 250, 266). |
| 152991335 | c.614_622dup | p.Ala205_Ser207dup | exon 1 | Pathogenic, identified in 2 ALD cases (29, 49). (Originally reported as c.622_23insCGGCCTCTG). |
| 152991338 | c.617_618delinsT | p.Ala206Valfs*10 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991340 | c.619_27del | p.Ser207_Ala209del | exon 1 | Pathogenic, identified in a single ALD case (62). No detectable ALDP expression in patient cells (62). |
| 152991342 | c.621_900+384del664 | p.Val208Trpfs*35 | exon 1 | Pathogenic, identified in 6 ALD patient (32, 49, 141, 218). Deleterious mutation. No detectable ALDP expression in patient cells (32, 49, 141). |
| 152991343 | c.622_634del | p.Val208Thrfs*4 | exon 1 | Pathogenic, identified in a single ALD case (15). Deleterious mutation. (Originally reported as c.618_30del). |
| 152991343 | c.622dupG | p.Val208Glyfs*93 | exon 1 | Pathogenic, identified in a single ALD case (86). Deleterious mutation. |
| 152991344 | c.623T>A | p.Val208Glu | exon 1 | Pathogenic, identified in 2 ALD cases (158). |
| 152991346 | c.625G>A | p.Ala209Thr | exon 1 | VUS, identified 2x in ALD newborn screening (284, 309), but has not yet been associated with disease. |
| 152991347 | c.626C>T | p.Ala209Val | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152991349 | c.628C>T | p.His210Tyr | exon 1 | VUS, identified 2x in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991350 | c.629A>T | p.His210Leu | exon 1 | Likely pathogenic, identified in a single ALD case (319). |
| 152991351 | c.630C>G | p.His210Gln | exon 1 | VUS, identified 2x in ALD newborn screening (297), but has not yet been associated with disease. |
| 152991352 | c.631C>T | p.Leu211Phe | exon 1 | VUS, identified in ALD newborn screening (238), but has not yet been associated with disease. |
| 152991353 | c.632T>G | p.Leu211Arg | exon 1 | VUS, no clinical info provided (266). |
| 152991353 | c.632T>C | p.Leu211Pro | exon 1 | Pathogenic, identified in 2 ALD cases (15, 177). |
| 152991354 | c.633delC | p.Tyr212Thrfs*4 | exon 1 | Pathogenic, identified in a single ALD case (269). Deleterious mutation. |
| 152991357 | c.636C>G | p.Tyr212* | exon 1 | Pathogenic, identified in 4 ALD cases (4, 38, 38, 158). Deleterious mutation. |
| 152991359 | c.638C>G | p.Ser213Cys | exon 1 | Pathogenic, identified in 3 ALD cases (27, 158). Normal ALDP level in patient cells, but non-functional: deficient beta-oxidation (259). |
| 152991359 | c.638C>T | p.Ser213Phe | exon 1 | Likely pathogenic, identified in a single ALD case (32) and 2x in ALD newborn screening (274). |
| 152991360 | c.639del | p.Asn214Thrfs*2 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991361 | c.640A>G | p.Asn214Asp | exon 1 | Pathogenic, identified in 2 ALD cases (24, 90). |
| 152991364 | c.643del | p.Leu215* | exon 1 | Pathogenic, identified in 5 ALD cases (32, 141). Deleterious mutation. No detectable ALDP expression in patient cells (32, 141). |
| 152991368 | c.647C>T | p.Thr216Ile | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991370 | c.649A>G | p.Lys217Glu | exon 1 | Pathogenic, identified in 6 ALD cases (32, 48, 49, 93, 167). Normal ALDP level in patient cells (49), but non-functional (48). |
| 152991370 | c.649A>T | p.Lys217* | exon 1 | Pathogenic, identified in a single ALD case (88). Deleterious mutation. |
| 152991372 | c.651G>C | p.Lys217Asn | exon 1 | VUS, no clinical info provided (266). |
| 152991373 | c.652C>T | p.Pro218Ser | exon 1 | Likely pathogenic, identified in a single ALD case (289). |
| 152991373 | c.652C>A | p.Pro218Thr | exon 1 | Pathogenic, identified in 7 ALD cases (29, 32, 49, 145, 280). Normal ALDP level in patient cells (32), but non-functional (32). |
| 152991373 | c.[652C>T; 664G>T] | p.[Pro218Ser; Val222Leu] | exon 1 | Pathogenic, identified in 4 ALD cases (98, 316). But it is unclear which variant is pathogenic; p.Pro218Ser has been reported. |
| 152991374 | c.653C>G | p.Pro218Arg | exon 1 | Likely pathogenic, identified in a single ALD case (175). |
| 152991374 | c.653C>T | p.Pro218Leu | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991380 | c.659T>C | p.Leu220Pro | exon 1 | Pathogenic, identified in 30 ALD cases (16, 32, 97, 141, 146, 205, 218, 266, 290). Reduced (22% of control cells) ALDP in patient cells (32, 97, 141, 146, 290). |
| 152991382 | c.661G>A | p.Asp221Asn | exon 1 | VUS, no clinical info provided (266). |
| 152991383 | c.662_702del | p.Asp221Valfs*66 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991383 | c.662A>G | p.Asp221Gly | exon 1 | Pathogenic, identified in 3 ALD cases (7, 33). No detectable ALDP expression in patient cells (7). |
| 152991385 | c.[664G>T;652C>T] | p.[Val222Leu;Pro218Ser] | exon 1 | Pathogenic, identified in 4 ALD cases (98, 316). But it is unclear which variant is pathogenic; p.Pro218Ser has been reported. |
| 152991385 | c.664G>A | p.Val222Met | exon 1 | VUS, frequency 3/176462 in non-ALD alleles (323). |
| 152991385 | c.664_70dup | p.Val224Glyfs*79 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991388 | c.667G>C | p.Ala223Pro | exon 1 | VUS, frequency 2/198242 in non-ALD alleles (323). |
| 152991389 | c.668C>T | p.Ala223Val | exon 1 | VUS, frequency 2/176342 in non-ALD alleles. |
| 152991389 | c.668C>A | p.Ala223Asp | exon 1 | Pathogenic, identified in 3 ALD cases (33, 113, 288). |
| 152991392 | c.671T>G | p.Val224Gly | exon 1 | Pathogenic, identified in 2 ALD cases (33, 49). |
| 152991394 | c.673A>G | p.Thr225Ala | exon 1 | VUS, frequency 1/176356 in non-ALD alleles (323) |
| 152991395 | c.674C>T | p.Thr225Ile | exon 1 | VUS, identified in ALD newborn screening (274) and reported 1x in the gnomAD database (323) frequency 1/180489 in non-ALD alleles, but has not yet been associated with disease. |
| 152991398 | c.678del | p.Tyr227Thrfs*109 | exon 1 | Pathogenic, identified in 4 ALD cases (29, 33, 302). Deleterious mutation. |
| 152991400 | c.679T>C | p.Tyr227His | exon 1 | VUS, frequency 2/176195 in non-ALD alleles (323). |
| 152991402 | c.681C>G | p.Tyr227* | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991402 | c.681C>A | p.Tyr227* | exon 1 | Pathogenic, identified in a single ALD case (189). Deleterious mutation and biochemically confirmed. |
| 152991404 | c.683C>A | p.Thr228Asn | exon 1 | VUS, frequency 1/176079 in non-ALD alleles (323) |
| 152991405 | c.684_85insTACAC | p.Leu229Tyrfs*109 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991406 | c.685C>G | p.Leu229Val | exon 1 | Likely pathogenic, identified in 1 case (284) and 1 ClinVar entry without clinical info (266). |
| 152991407 | c.686T>C | p.Leu229Pro | exon 1 | Pathogenic, identified in 9 ALD cases (29, 33, 47, 49, 145, 263). |
| 152991412 | c.691C>T | p.Arg231Trp | exon 1 | Benign. Reported in ALD male (32) as pathogenic, but considering its frequency (61/201493 in non-ALD alleles (323) this is a benign variant. |
| 152991413 | c.692G>A | p.Arg231Gln | exon 1 | VUS, frequency 2/175656 in non-ALD alleles (323). |
| 152991413 | c.692_94delinsC | p.Arg231Profs*69 | exon 1 | Pathogenic, identified in 3 ALD cases (33, 172, 250). Deleterious mutation. |
| 152991414 | c.693_94del | p.Ala232Glyfs*68 | exon 1 | Pathogenic, identified in 2 ALD cases (3, 33). Deleterious mutation. No detectable ALDP expression in patient cells (33). |
| 152991416 | c.695_696del | p.Ala232Glyfs*68 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP expression in patient cells (58). |
| 152991416 | c.695_96insG | p.Ala233Glyfs*68 | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152991417 | c.697del | p.Ala233Profs*103 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152991417 | c.696_706del11 | p.Ala233Trpfs*64 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152991418 | c.697_900+25del | p.Ala233Glyfs*100 | exon 1 | Pathogenic, identified in a single ALD case (48). Deleterious mutation. |
| 152991421 | c.700C>T | p.Arg234Cys | exon 1 | VUS, identified in 5 times in ALD newborn screening (191, 274, 294), but has not yet been associated with disease. |
| 152991422 | c.701G>A | p.Arg234His | exon 1 | Likely benign, based on frequency 5/197276 in non-ALD alleles (323). |
| 152991424 | c.703_744del | p.Ser235_Gly248del | exon 1 | Pathogenic, identified in 2 ALD cases (299). Deleterious mutation. |
| 152991427 | c.706C>T | p.Arg236Cys | exon 1 | Pathogenicity of the variant p.Arg236Cys is unclear (323) frequency 2/175366 in non-ALD alleles. It was also identified in an ALD patient (33), but in combination with a true pathogenic mutation, p.Lys16* |
| 152991427 | c.706_09del | p.Arg236Glufs*99 | exon 1 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. |
| 152991427 | c.706C>G | p.Arg236Gly | exon 1 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991428 | c.707G>C | p.Arg236Pro | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991428 | c.707G>A | p.Arg236His | exon 1 | Benign, based on its frequency of 260/201001 in non-ALD alleles (323). |
| 152991431 | c.710G>T | p.Gly237Val | exon 1 | VUS, frequency 1/175446 in non-ALD alleles (323). |
| 152991433 | c.712G>A | p.Ala238Thr | exon 1 | VUS, frequency 1/175276 in non-ALD alleles (323). |
| 152991434 | c.713C>A | p.Ala238Asp | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. | |
| 152991436 | c.715G>A | p.Gly239Ser | exon 1 | VUS, identified in ALD newborn screening (274) and 1x in the gnomAD database (323) frequency 1/178518 in non-ALD alleles, but has not yet been associated with disease. |
| 152991444 | c.723del | p.Trp242Glyfs*94 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991445 | c.724_28del | p.Trp242Leufs*57 | exon 1 | Pathogenic, identified in a single ALD case (3). Deleterious mutation. |
| 152991446 | c.725G>A | p.Trp242* | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152991447 | c.726G>A | p.Trp242* | exon 1 | Pathogenic, identified in 6 ALD cases (15, 33, 49, 59, 64, 132). Deleterious mutation. No detectable ALDP in patient cells (49). |
| 152991449 | c.728C>G | p.Pro243Arg | exon 1 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 152991451 | c.730delT | p.Ser244Argfs*92 | exon 1 | Pathogenic, identified in a single ALD casein a single ALD case (33). Deleterious mutation. |
| 152991451 | c.730_31delinsGAGA | p.Ser244Glufs*93 | exon 1 | Pathogenic, identified in 4 ALD cases (37). Deleterious mutation. |
| 152991452 | c.731C>T | p.Ser244Leu | exon 1 | Benign, confirmed by demonstration of normal C26:0-lysoPC levels in plasma (32). |
| 152991455 | c.734C>A | p.Ala245Asp | exon 1 | Pathogenic, identified in 2 ALD cases (141, 290). Normal ALDP level in patient cells (141, 290), but non-functional (141, 290). |
| 152991460 | c.739G>A | p.Ala247Thr | exon 1 | VUS, identified 9 times in ALD newborn screening (274, 284, 294) and reported 1x in the gnomAD database (323) frequency 1/176009 in non-ALD alleles, but has not yet been associated with disease. |
| 152991460 | c.739delG | p.Ala247Profs*89 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152991460 | c.739_40insGCCATCG | p.Ala247Glyfs*56 | exon 1 | Pathogenic, identified in a single ALD case (93). Deleterious mutation. |
| 152991463 | c.742G>A | p.Gly248Ser | exon 1 | Likely benign, based on frequency 7/194293 in non-ALD alleles (323). |
| 152991463 | c.742G>C | p.Gly248Arg | exon 1 | Likely pathogenic, identified in a single ALD case (292). |
| 152991463 | c.742_45del | p.Gly248Serfs*87 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991464 | c.743G>C | p.Gly248Ala | exon 1 | Likely benign variant identified in male with normal VLCFA levels (308) |
| 152991469 | c.748_59del | p.Val250_Leu253del | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991472 | c.751_53del | p.Val251del | exon 1 | Likely pathogenic, identified in a single ALD case (33) and in ALD newborn screening (295). |
| 152991473 | c.752T>A | p.Val251Glu | exon 1 | Likely pathogenic, identified in a single ALD case (44). |
| 152991477 | c.756C>A | p.Phe252Leu | exon 1 | VUS, no clinical info provided (266). |
| 152991478 | c.757C>G | p.Leu253Val | exon 1 | Benign, based on its frequency of 156/194759 in non-ALD alleles (323). |
| 152991478 | c.757_65delinsGAGG | p.Leu253Glufs*46 | exon 1 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. |
| 152991481 | c.760dupA | p.Thr254Asnfs*47 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 152991482 | c.760A>G | p.Thr254Ala | exon 1 | Pathogenic, identified in 5 ALD cases (33, 58, 315). Normal ALDP level in patient cells (58), but non-functional (58). |
| 152991481 | c.760A>C | p.Thr254Pro | exon 1 | Pathogenic, identified in 3 ALD cases (33, 90). |
| 152991482 | c.761delC | p.Thr254Argfs*82 | exon 1 | Pathogenic, identified in 2 ALD cases (81, 104). Deleterious mutation. |
| 152991482 | c.761C>A | p.Thr254Lys | exon 1 | Pathogenic, identified in 2 ALD cases (33, 52). |
| 152991482 | c.761C>T | p.Thr254Met | exon 1 | Pathogenic, identified in 11 ALD cases (15, 33, 105, 209, 235, 250, 274). |
| 152991484 | c.763G>A | p.Ala255Thr | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991487 | c.766_769dup | p.Val257Glufs*45 | exon 1 | Pathogenic, identified in 2 ALD case (274). Deleterious mutation. |
| 152991489 | c.768C>T | p.Asn256Asn | exon 1 | Synonymous (X:152991489 C/T). |
| 152991490 | c.769G>A | p.Val257Met | exon 1 | VUS, frequency 1/163453 in non-ALD alleles (323) |
| 152991494 | c.773T>C | p.Leu258Pro | exon 1 | Pathogenic, identified in 2 ALD cases (33, 316). |
| 152991496 | c.775C>T | p.Arg259Trp | exon 1 | VUS, frequency 2/157411 in non-ALD alleles (323). It was identified in an ALD patient (167), but in combination with a true pathogenic mutation, p.Ser108*. |
| 152991497 | c.776G>A | p.Arg259Gln | exon 1 | VUS, frequency 2/160787 in non-ALD alleles (323). |
| 152991499 | c.778G>A | p.Ala260Thr | exon 1 | VUS, frequency 1/156948 in non-ALD alleles (323) |
| 152991505 | c.784_785del | p.Ser262Alafs*38 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 235). Deleterious mutation. |
| 152991506 | c.785_91del | p.Ser262Cysfs*72 | exon 1 | Pathogenic, identified in 4 ALD cases (16). Deleterious mutation. |
| 152991506 | c.785C>A | p.Ser262* | exon 1 | Pathogenic, identified in a single ALD case (120). Deleterious mutation. |
| 152991506 | c.785C>G | p.Ser262Trp | exon 1 | Pathogenic, identified in 6 ALD cases (32, 200, 289). |
| 152991508 | c.787C>T | p.Pro263Ser | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991509 | c.788C>T | p.Pro263Leu | exon 1 | Pathogenic, identified in a single ALD case (7). Affects ALDP stability in patient cells (7). |
| 152991511 | c.790A>T | p.Lys264* | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991511 | c.790A>C | p.Lys264Gln | exon 1 | VUS, frequency 1/21836 in non-ALD alleles (323) |
| 152991515 | c.794T>C | p.Phe265Ser | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991517 | c.796G>A | p.Gly266Arg | exon 1 | Pathogenic, identified in 45 ALD cases (8, 16, 24, 33, 49, 52, 53, 59, 62, 64, 67, 72, 88, 90, 93, 96, 105, 132, 137, 162, 214, 220, 235, 274, 280, 289, 294). Normal ALDP level in patient cells (53, 72), but non-functional. |
| 152991517 | c.796G>C | p.Gly266Arg | exon 1 | Pathogenic, identified in a single ALD case (58). Normal ALDP level in patient cells (58), but non-functional. |
| 152991517 | c.796G>T | p.Gly266Trp | exon 1 | VUS, no clinical info provided (266). |
| 152991518 | c.797G>C | p.Gly266Ala | exon 1 | VUS, no clinical info provided (266). |
| 152991518 | c.797G>A | p.Gly266Glu | exon 1 | Pathogenic, identified in 4 ALD cases (49, 96, 266). |
| 152991520 | c.799G>A | p.Glu267Lys | exon 1 | Likely pathogenic, identified in a single ALD case (51). |
| 152991520 | c.799G>T | p.Glu267* | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991520 | c.799del | p.Glu267Serfs*69 | exon 1 | Pathogenic, identified in a single ALD case (15). Deleterious mutation. |
| 152991526 | c.805G>A | p.Val269Met | exon 1 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 152991527 | c.806T>G | p.Val269Gly | exon 1 | VUS, identified in ALD newborn screening (309), but has not yet been associated with disease. |
| 152991530 | c.809C>T | p.Ala270Val | exon 1 | Likely benign, based on frequency 5/165970 in non-ALD alleles (323). |
| 152991532 | c.811G>A | p.Glu271Lys | exon 1 | Likely pathogenic, identified in a single ALD case (24). |
| 152991536 | c.815_17del | p.Glu272del | exon 1 | Pathogenic, identified in 3 ALD cases (33, 191). |
| 152991539 | c.818del | p.Ala273Glyfs*63 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991539 | c.818C>T | p.Ala273Val | exon 1 | Likely pathogenic, identified in a single ALD case (319), 1x in ALD newborn screening (274) and reported 1x in the gnomAD database (323) frequency 1/139664 in non-ALD alleles. |
| 152991539 | c.818C>A | p.Ala273Glu | exon 1 | Pathogenic, identified in a single ALD case (58). Normal ALDP level in patient cells (58), but non-functional. |
| 152991540 | c.819G>A | p.Ala273Ala | exon 1 | Synonymous (X:152991540 G/A). |
| 152991541 | c.820C>T | p.Arg274Trp | exon 1 | VUS, identified in 3/138261 in non-ALD alleles (323). |
| 152991541 | c.[820C>T; 838C>T] | p.[Arg274Trp; Arg280Cys] | exon 1 | Pathogenic, identified in a single ALD case (49). p.Arg274Trp is a VUS, because p.Arg280Cys is pathogenic. |
| 152991542 | c.821G>A | p.Arg274Gln | exon 1 | Likely benign, based on frequency 4/157579 in non-ALD alleles (323). |
| 152991542 | c.821G>C | p.Arg274Pro | exon 1 | VUS, no clinical info presented (225) |
| 152991544 | c.823C>T | p.Arg275Trp | exon 1 | VUS, identified 8 times in ALD newborn screening (181, 243, 266, 274), and reported 1x in the gnomAD database (323) frequency 1/135103 in non-ALD alleles. Mildly elevated C26:0-LPC levels in plasma (291), but has not yet been associated with disease. |
| 152991545 | c.824G>C | p.Arg275Pro | exon 1 | Likely pathogenic, identified in a single ALD case (200) and in ALD newborn screening (294). |
| 152991547 | c.826A>G | p.Lys276Glu | exon 1 | Pathogenic, identified in 2 ALD cases (22, 86). Normal ALDP level in patient cells (22), but non-functional. |
| 152991549 | c.828_29insAAT | p.Gly277_Glu278insAsn | exon 1 | Pathogenic, identified in 2 ALD cases (15, 158). |
| 152991550 | c.829G>A | p.Gly277Arg | exon 1 | Pathogenic, identified in 5 ALD cases (15, 33, 60, 88). Normal ALDP level in patient cells (60), but non-functional. |
| 152991550 | c.829G>C | p.Gly277Arg | exon 1 | Pathogenic, identified in 5 ALD cases (27, 60, 232). Normal ALDP level in patient cells (60), but non-functional. |
| 152991550 | c.829G>T | p.Gly277Trp | exon 1 | Pathogenic, identified in 5 ALD cases (13, 27, 200, 239, 289). |
| 152991551 | c.830G>T | p.Gly277Val | exon 1 | VUS, no clinical info provided (266). |
| 152991551 | c.830G>A | p.Gly277Glu | exon 1 | Pathogenic, identified in 2 ALD cases (33, 191). |
| 152991553 | c.832G>T | p.Glu278* | exon 1 | Pathogenic, identified in 3 ALD cases (58, 218, 290). Deleterious mutation. No detectable ALDP expression in patient cells (290). |
| 152991553 | c.832_34delinsAC | p.Glu278Thrfs*58 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991557 | c.836T>C | p.Leu279Pro | exon 1 | Pathogenic, identified in a single ALD case (60). No detectable ALDP expression in patient cells (60). |
| 152991559 | c.838C>A | p.Arg280Ser | exon 1 | VUS, frequencey 1/128935 in non-ALD alleles (323). |
| 152991559 | c.838C>T | p.Arg280Cys | exon 1 | Pathogenic, identified in 19 ALD cases (32, 33, 50, 60, 191, 193, 266, 274, 294, 295). Normal ALDP level in patient cells (60), but non-functional. |
| 152991560 | c.839G>C | p.Arg280Pro | exon 1 | Likely pathogenic, identified in a single ALD case (258). |
| 152991560 | c.839G>A | p.Arg280His | exon 1 | VUS, identified 14 times in ALD newborn screening (191, 200, 274, 284, 295), but has not yet been associated with disease. |
| 152991560 | c.839G>T | p.Arg280Leu | exon 1 | Pathogenic, identified in 2 ALD cases (55, 93). |
| 152991562 | c.841T>C | p.Tyr281His | exon 1 | Likely pathogenic, identified in a single ALD case (178). |
| 152991564 | c.843C>A | p.Tyr281* | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991568 | c.847C>T | p.His283Tyr | exon 1 | Pathogenic, identified in 5 ALD cases (32, 141). Affects ALDP stability in patient cells (32, 141). |
| 152991568 | c.847C>G | p.His283Asp | exon 1 | Pathogenic, identified in 6 ALD cases (59, 64, 93, 132, 137, 266). |
| 152991569 | c.848A>G | p.His283Arg | exon 1 | Pathogenic, identified in 7 ALD cases (89, 93, 173). |
| 152991572 | c.851C>A | p.Ser284* | exon 1 | Pathogenic, identified in 3 ALD cases (32, 280). Deleterious mutation. No detectable ALDP expression in patient cells (32). |
| 152991572 | c.851C>G | p.Ser284Trp | exon 1 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991572 | c.851C>T | p.Ser284Leu | exon 1 | VUS, identified 3 times in ALD newborn screening (294, 296) and confirmed by increased VLCFA (296), but has not yet been associated with disease. |
| 152991573 | c.852_53insACTC | p.Arg285Thrfs*17 | exon 1 | Pathogenic, identified in 4 ALD cases (33, 104, 235, 250). Deleterious mutation. |
| 152991573 | c.852dup | p.Arg285Alafs*16 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991574 | c.853C>A | p.Arg285Ser | exon 1 | VUS, identified 4 times in ALD newborn screening (191, 274, 295), but has not yet been associated with disease. |
| 152991574 | c.853C>T | p.Arg285Cys | exon 1 | Likely pathogenic, identified in a single ALD case (267) and 1x in ALD newborn screening (274). |
| 152991574 | c.853C>G | p.Arg285Gly | exon 1 | Pathogenic, identified in 5 ALD cases within a single family (278) Mutation cosegregates with elevated VLCFA. |
| 152991575 | c.854G>C | p.Arg285Pro | exon 1 | Pathogenic, identified in 3 ALD cases (27, 49, 285). |
| 152991575 | c.854G>A | p.Arg285His | exon 1 | VUS, identified in a clinically affected female (291), but with normal VLCFA (further testing ongoing). VUS, frequency 2/143709 in non-ALD alleles (323). |
| 152991580 | c.859G>A | p.Val287Met | exon 1 | VUS, no clinical info provided (266). |
| 152991580 | c.859G>T | p.Val287Leu | exon 1 | VUS, frequency 1/120658 in non-ALD alleles (323). |
| 152991587 | c.866A>G | p.Asn289Ser | exon 1 | VUS, frequency 1/116309 in non-ALD alleles (323). |
| 152991590 | c.869del | p.Ser290Trpfs*46 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991590 | c.869C>T | p.Ser290Leu | exon 1 | VUS, identified 2x in ALD newborn screening (274, 309), but has not yet been associated with disease. |
| 152991590 | c.869C>G | p.Ser290Trp | exon 1 | Likely pathogenic, identified in a single ALD case (90). |
| 152991590 | c.869C>A | p.Ser290* | exon 1 | Pathogenic, identified in 2 ALD cases (49, 292). Deleterious mutation. No detectable ALDP expression in patient cells (49). |
| 152991592 | c.871G>A | p.Glu291Lys | exon 1 | Pathogenic, identified in 8 ALD cases (5, 58, 59, 60, 64, 132, 137, 266). No detectable ALDP expression in patient cells (58, 60). |
| 152991593 | c.872A>G | p.Glu291Gly | exon 1 | Pathogenic, identified in 4 ALD cases (145, 263). |
| 152991594 | c.873G>C | p.Glu291Asp | exon 1 | Pathogenic, identified in 2 ALD cases (22, 33) and 2x in ALD newborn screening (297). No detectable ALDP expression in patient cells (22, 33). |
| 152991595 | c.874_76delGAG | p.Glu292del | exon 1 | Pathogenic, identified in 26 ALD cases (15, 22, 24, 31, 32, 33, 49, 178, 250, 257, 290). No detectable ALDP expression in patient cells (22, 49, 290). (Also reported as p.Glu291del). |
| 152991595 | c.874G>A | p.Glu292Lys | exon 1 | Pathogenic, identified in 2 ALD cases (184) and 1x in ALD newborn screening (295). |
| 152991597 | c.876G>C | p.Glu292Asp | exon 1 | Likely pathogenic, identified in a single ALD case (235). |
| 152991599 | c.878T>C | p.Ile293Thr | exon 1 | VUS, no clinical info provided (266). |
| 152991600 | c.879del | p.Ile293Metfs*43 | exon 1 | Pathogenic, identified in 2 ALD cases (219). Deleterious mutation. |
| 152991601 | c.880G>A | p.Ala294Thr | exon 1 | Pathogenic, identified in 2 ALD cases (7, 32) and 5x in ALD newborn screening (191, 274, 294). |
| 152991602 | c.881C>T | p.Ala294Val | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991603 | c.882_883insGC | p.Phe295Alafs*42 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991606 | c.885delinsTA | p.Tyr296Ilefs*5 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991607 | c.886_99del14 | p.Tyr296Glyfs*100 | exon 1 | Pathogenic, identified in a single ALD case (27). Deleterious mutation. |
| 152991607 | c.886T>C | p.Tyr296His | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991608 | c.887A>G | p.Tyr296Cys | exon 1 | Pathogenic, identified in 38 ALD cases (24, 33, 49, 52, 59, 62, 64, 88, 100, 115, 125, 132, 137, 235, 266, 289, 292, 297, 304, 306, 318). Normal ALDP level in patient cells (58), but non-functional. |
| 152991608 | c.887A>C | p.Tyr296Ser | exon 1 | Likely pathogenic, identified in a single ALD case (33) and in ALD newborn screening (294). |
| 152991609 | c.888T>G | p.Tyr296* | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP expression in patient cells (58). |
| 152991613 | c.892G>C | p.Gly298Arg | exon 1 | Likely pathogenic, identified in a single ALD case (125). |
| 152991613 | c.892G>A | p.Gly298Ser | exon 1 | Pathogenic, identified in 12 ALD cases (33, 218, 245, 253, 267, 290, 317), detectable ALDP in patient cells, but not functional (290). |
| 152991613 | c.892_96delinsGTCA | p.Gly298Valfs*38 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP expression in patient cells (58). |
| 152991613 | c.892_93insGC | p.His299Profs*38 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991614 | c.893del | p.Gly298Alafs*38 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991614 | c.893G>A | p.Gly298Asp | exon 1 | Pathogenic, identified in 7 ALD cases (29, 38, 58, 125, 280). No detectable ALDP expression in patient cells (58). |
| 152991614 | c.893G>T | p.Gly298Val | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991614 | c.893_94delinsT | p.Gly298Valfs*38 | exon 1 | Pathogenic, identified in 2 ALD cases (53, 84). Deleterious mutation. No detectable ALDP expression in patient cells (53). |
| 152991614 | c.893_894insG | p.His299Alafs*2 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991616 | c.895C>T | p.His299Tyr | exon 1 | Benign, based on frequency 25/116669 in non-ALD alleles (323). Confirmed by functional studies in fibroblasts (290). |
| 152991617 | c.896A>G | p.His299Arg | exon 1 | Benign, confirmed by biochemical testing (normal plasma VLCFA and C26:0-lysoPC) (32) and functional testing in fibroblasts showing normal results (290). |
| 152991621 | c.900G>C | p.Glu300Asp | exon 1 | VUS, no clinical info provided (266). |
| 152991621 | c.900G>A | p.Val301fs*34 | exon 1 | Pathogenic, identified in 3 ALD cases (33, 53, 152). Reduced (7% of control cells) ALDP in patient cells due to splicing defect (152). |
| 152991622 | c.900+1G>T | p.Val301fs*? | IVS 1 | Pathogenic, identified in 4 ALD cases (49, 59, 64, 132). Deleterious mutation. |
| 152991622 | c.900+1G>A | p.Val301fs*? | IVS 1 | Pathogenic, identified in 4 ALD cases (33, 100, 117, 289). Deleterious mutation. |
| 152991623 | c.900+2T>A | p.Val301fs*? | IVS 1 | Likely pathogenic, identified in a single ALD case (305). Should effect splicing and protein stability, but experimental proof was not provided. |
| 152991631 | c.900+10G>C | IVS 1 | VUS, frequency 1/77602 in non-ALD alleles (323). | |
| 152991633 | c.900+12T>A | IVS 1 | VUS, frequency 1/76302 in non-ALD alleles (323). | |
| 152991638 | c.900+17T>A | IVS 1 | VUS, frequency 1/72276 in non-ALD alleles (323). | |
| 152991648 | c.900+27G>A | IVS 1 | Likely benign, based on frequency 9/88236 in non-ALD alleles (323). | |
| 152991651 | c.900+30G>A | IVS 1 | Likely benign, based on frequency 10/87692 in non-ALD alleles (323). | |
| 152994662 | c.901-25_901-9del | p.Val301fs*? | IVS 1 | Pathogenic, identified in 2 ALD cases (310). Deleterious mutation (exon 2 skipped) confirmed by molecular testing. |
| 152994671 | c.901-16C>T | IVS 1 | Benign, based on its frequency of 1567/199361 in non-ALD alleles (323). | |
| 152994674 | c.901-13T>C | IVS 1 | VUS, frequency 2/199422 in non-ALD alleles (323). | |
| 152994677 | c.901-10C>T | IVS 1 | Benign, based on its frequency of 773/204021 in non-ALD alleles (323). | |
| 152994678 | c.901-9C>T | IVS 1 | VUS, frequency 2/177868 in non-ALD alleles (323). | |
| 152994678 | c.901-9C>A | IVS 1 | VUS, frequency 1/177868 in non-ALD alleles (323). | |
| 152994682 | c.901-5C>T | IVS 1 | Benign, based on its frequency of 47/204461 in non-ALD alleles (323). | |
| 152994682 | c.901-5C>A | p.Val301fs*? | IVS 1 | Pathogenic, identified in 4 ALD cases (218, 290). Affects splicing of exon 2, no detectable ALDP in patient cells (290). |
| 152994683 | c.901-4G>A | IVS 1 | VUS, frequency 3/178069 in non-ALD alleles (323). | |
| 152994683 | c.901-4G>C | IVS 1 | VUS, frequency 1/178069 in non-ALD alleles (323). | |
| 152994684 | c.901-3C>G | p.Val301fs*? | IVS 1 | Pathogenic, identified in a single ALD case (60). No detectable ALDP in patient cells (60). |
| 152994685 | c.901-2A>G | IVS 1 | VUS, no clinical info provided (266). | |
| 152994685 | c.901-2A>C | p.Val301fs*? | IVS 1 | Likely pathogenic, identified in a single ALD case (68). Should effect splicing and protein stability, but experimental proof was not provided. |
| 152994686 | c.901-1G>A | p.Val301fs*? | IVS 1 | Pathogenic, identified in 7 ALD cases (33, 49, 62, 111, 125, 274). Deleterious mutation. |
| 152994690 | c.904G>A | p.Glu302Lys | exon 2 | Pathogenic, identified in 5 ALD cases (21, 58, 72, 191). Affects ALDP stability in patient cells (58, 72). |
| 152994690 | c.904G>C | p.Glu302Gln | exon 2 | Pathogenic, identified in a single ALD case (32). Affects ALDP stability in patient cells (32). |
| 152994690 | c.904_905delinsAT | p.Glu302Met | exon 2 | Likely pathogenic, identified in a single ALD case (258). |
| 152994691 | c.905A>T | p.Glu302Val | exon 2 | Likely pathogenic, identified in a single ALD case (88). |
| 152994691 | c.905A>G | p.Glu302Gly | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994692 | c.906G>C | p.Glu302Asp | exon 2 | Likely pathogenic, identified in a single ALD case (137). |
| 152994696 | c.910_911ins21 | p.Ala304delins8 | exon 2 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152994696 | c.910G>A | p.Ala304Thr | exon 2 | VUS, frequency 2/178390 in non-ALD alleles (323). |
| 152994696 | c.910G>C | p.Ala304Pro | exon 2 | VUS, reported in combination with a pathogenic mutation (289). |
| 152994696 | c.910del | p.Ala304Profs*32 | exon 2 | Pathogenic, identified in a single ALD case (84). Deleterious mutation. |
| 152994699 | c.913C>T | p.Leu305Leu | exon 2 | VUS, frequency 2/178390 in non-ALD alleles (323) |
| 152994702 | c.916_922dup | p.Arg308Profs*95 | exon 2 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 152994705 | c.919C>T | p.Gln307* | exon 2 | Pathogenic, identified in 7 ALD cases (62, 127, 228, 266, 300). Deleterious mutation. |
| 152994708 | c.922C>T | p.Arg308Cys | exon 2 | Likely benign, based on frequency 4/200081 in non-ALD alleles (323). |
| 152994709 | c.923G>A | p.Arg308His | exon 2 | Likely benign, based on frequency 5/178473 in non-ALD alleles (323). |
| 152994709 | c.923G>C | p.Arg308Pro | exon 2 | Likely pathogenic, identified in 3 cases from 1 family and 1x in ALD NBS (284). |
| 152994717 | c.931C>T | p.Gln311* | exon 2 | Pathogenic, identified in 4 ALD cases (2, 60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 152994718 | c.932dup | p.Asp312Glyfs*89 | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152994719 | c.933_34insA | p.Asp312Argfs*89 | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152994721 | c.935del | p.Asp312Alafs*24 | exon 2 | Pathogenic, identified in 2 ALD patient (35). Deleterious mutation. |
| 152994723 | c.937delC | p.Leu313Trpfs*23 | exon 2 | Pathogenic, identified in 3 ALD cases (59, 64, 132). Deleterious mutation. |
| 152994724 | c.938T>A | p.Leu313Gln | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994724 | c.938T>C | p.Leu313Pro | exon 2 | Pathogenic, identified in 3 ALD cases (33, 88, 90). |
| 152994726 | c.940G>C | p.Ala314Pro | exon 2 | Likely pathogenic, identified in a single ALD case (93). |
| 152994729 | c.943del | p.Ser315Argfs*21 | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152994730 | c.944C>T | p.Ser315Leu | exon 2 | VUS, frequency 2/178647 in non-ALD alleles (323). |
| 152994730 | c.944C>A | p.Ser315* | exon 2 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. |
| 152994732 | c.946C>T | p.Gln316* | exon 2 | Pathogenic, identified in 3 ALD cases (280). Deleterious mutation. |
| 152994733 | c.947A>C | p.Gln316Pro | exon 2 | Pathogenic, identified in 2 ALD cases (129). |
| 152994739 | c.953A>G | p.Asn318Ser | exon 2 | VUS, frequency 1/178710 in non-ALD alleles (323) |
| 152994739 | c.953A>T | p.Asn318Ile | exon 2 | VUS, no clinical info provided (266). |
| 152994750 | c.964C>A | p.Leu322Met | exon 2 | VUS, frequency 1/178734 in non-ALD alleles (323). |
| 152994751 | c.965T>C | p.Leu322Pro | exon 2 | Pathogenic, identified in 4 ALD cases (26, 33, 62, 135). |
| 152994753 | c.967G>T | p.Glu323* | exon 2 | Pathogenic, identified in a single ALD case (225). Deleterious mutation. |
| 152994754 | c.968A>T | p.Glu323Val | exon 2 | VUS, frequency 1/178740 in non-ALD alleles (323). |
| 152994756 | c.970C>T | p.Arg324Cys | exon 2 | VUS, identified 6x in ALD newborn screening (191, 200, 267, 294). Affects ALDP function in fibroblasts(290), but has not yet been associated with disease. |
| 152994757 | c.971G>A | p.Arg324His | exon 2 | VUS, frequency 1/183442 in non-ALD alleles (323). |
| 152994759 | c.973C>G | p.Leu325Val | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994760 | c.974T>C | p.Leu325Pro | exon 2 | Pathogenic, identified in 3 ALD cases (33, 125). |
| 152994763 | c.977G>A | p.Trp326* | exon 2 | Pathogenic, identified in 3 ALD cases (2, 60, 154). Deleterious mutation. |
| 152994763 | c.977_983del | p.Trp326Leufs*8 | exon 2 | Pathogenic, identified in a single ALD case (225). Deleterious mutation. |
| 152994764 | c.978G>A | p.Trp326* | exon 2 | Pathogenic, identified in 2 ALD cases (100, 294). Deleterious mutation. |
| 152994765 | c.979_80insT | p.Tyr327Leufs*74 | exon 2 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP expression in patient cells (60). |
| 152994767 | c.981T>A | p.Tyr327* | exon 2 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 152994768 | c.982G>T | p.Val328Phe | exon 2 | Likely pathogenic, identified in a single ALD case (120). |
| 152994769 | c.983T>G | p.Val328Gly | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994771 | c.985A>C | p.Met329Leu | exon 2 | VUS, frequency 1/178746 in non-ALD alleles (323) |
| 152994772 | c.986T>C | p.Met329Thr | exon 2 | VUS, frequency 2/178750 in non-ALD alleles (323) |
| 152994772 | c.986T>G | p.Met329Arg | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994774 | c.988_1005del | p.Leu330_Met335del | exon 2 | Pathogenic, identified in 2 ALD cases (33, 274). Deleterious mutation. |
| 152994777 | c.991G>A | p.Glu331Lys | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994777 | c.991G>T | p.Glu331* | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152994778 | c.992A>G | p.Glu331Gly | exon 2 | VUS, no clinical info provided (266). |
| 152994780 | c.994C>T | p.Gln332* | exon 2 | Pathogenic, identified in 2 ALD cases (165, 266). Deleterious mutation. |
| 152994782 | c.996G>C | p.Gln332His | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994786 | c.1000C>T | p.Leu334Phe | exon 2 | Likely benign. Identified 2x in ALD newborn screening (274, 290) and confirmed by functional studies in fibroblasts (290). |
| 152994787 | c.1001T>C | p.Leu334Pro | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994790 | c.1004T>G | p.Met335Arg | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994792 | c.1006A>G | p.Lys336Glu | exon 2 | Likely pathogenic, identified in a single ALD case (298). |
| 152994793 | c.1007A>C | p.Lys336Thr | exon 2 | VUS, identified 2x in ALD newborn screening (302), but has not yet been associated with disease. |
| 152994793 | c.1007A>T | p.Lys336Met | exon 2 | Likely pathogenic, identified in a single ALD case (49). |
| 152994794 | c.1008G>T | p.Lys336Asn | exon 2 | Likely pathogenic, identified in a single ALD case (32). |
| 152994794 | c.1008G>C | p.Lys336Asn | exon 2 | Likely pathogenic, identified in a single ALD case (145). |
| 152994795 | c.1009T>C | p.Tyr337His | exon 2 | Pathogenic, identified in 2 ALD cases (33, 289). |
| 152994796 | c.1010A>G | p.Tyr337Cys | exon 2 | VUS, 2 ClinVar entries, but no clinical info provided (266). |
| 152994797 | c.1011T>A | p.Tyr337* | exon 2 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152994801 | c.1015T>C | p.Trp339Arg | exon 2 | Pathogenic, identified in 2 ALD cases (38, 245). |
| 152994801 | c.1015T>G | p.Trp339Gly | exon 2 | Pathogenic, identified in 5 ALD cases (186, 247, 267). |
| 152994802 | c.1016G>C | p.Trp339Ser | exon 2 | Likely pathogenic, identified in 2 ALD cases (145, 245). |
| 152994802 | c.1016G>A | p.Trp339* | exon 2 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152994803 | c.1017G>A | p.Trp339* | exon 2 | Pathogenic, identified in 2 ALD cases (33). Deleterious mutation. |
| 152994803 | c.1017G>T | p.Trp339Cys | exon 2 | Likely pathogenic, identified in a single ALD case (125). |
| 152994803 | c.1017G>C | p.Trp339Cys | exon 2 | Likely pathogenic, identified in a single ALD case (202). |
| 152994807 | c.1021G>A | p.Ala341Thr | exon 2 | VUS, frequency 1/178613 in non-ALD alleles (323). |
| 152994807 | c.1021G>T | p.Ala341Ser | exon 2 | Likely benign, based on frequency 9/178613 in non-ALD alleles (323). |
| 152994808 | c.1022C>A | p.Ala341Asp | exon 2 | Pathogenic, identified in a single ALD case (104). Confirmed by functional studies (104). |
| 152994810 | c.1024T>C | p.Ser342Pro | exon 2 | Pathogenic, identified in 4 ALD cases (22, 33). Normal ALDP level in patient cells (22, 33), but non-functional (22, 33, 261). |
| 152994811 | c.1025C>T | p.Ser342Leu | exon 2 | VUS, identified 4x in ALD newborn screening (191, 200, 274), but has not yet been associated with disease. |
| 152994813 | c.1027G>A | p.Gly343Ser | exon 2 | Likely pathogenic, identified in a single ALD case (165). |
| 152994813 | c.1027G>C | p.Gly343Arg | exon 2 | VUS, no clinical info provided (266). |
| 152994814 | c.1028G>A | p.Gly343Asp | exon 2 | Pathogenic, identified in 5 ALD cases (33, 49, 203, 277, 292) and 1x in ALD newborn screening (297). |
| 152994814 | c.1028G>T | p.Gly343Val | exon 2 | Pathogenic, identified in 23 ALD cases (59, 64, 93, 108, 132, 137, 145, 174, 206, 263, 284, 318, 319). |
| 152994817 | c.1031T>C | p.Leu344Pro | exon 2 | Pathogenic, identified in 2 ALD cases (33, 293). |
| 152994819 | c.1033C>T | p.Leu345Phe | exon 2 | VUS, identified 2x in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994822 | c.1036A>G | p.Met346Val | exon 2 | VUS, identified 2x in ALD newborn screening (191, 299), but has not yet been associated with disease. |
| 152994831 | c.1045del | p.Val349Serfs*17 | exon 2 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152994836 | c.1050del | p.Ile351Serfs*15 | exon 2 | Pathogenic, identified in a single ALD case (32). Deleterious mutation. |
| 152994855 | c.1069_70delTinsGCC | p.Tyr357Alafs*10 | exon 2 | Pathogenic, identified in 2 ALD cases (38). Deleterious mutation. |
| 152994857 | c.1071C>G | p.Tyr357* | exon 2 | Pathogenic, identified in a single ALD case (288). Deleterious mutation. |
| 152994858 | c.1072T>C | p.Ser358Pro | exon 2 | Benign variant, confirmed by biochemical testing (139). |
| 152994859 | c.1073C>G | p.Ser358* | exon 2 | Pathogenic, identified in 5 ALD cases (60, 100, 154, 191, 250). Deleterious mutation. No detectable ALDP expression in patient cells (60). |
| 152994860 | c.1074_75insA | p.Glu359Argfs*42 | exon 2 | Pathogenic, identified in 2 ALD cases (100, 266). Deleterious mutation. |
| 152994861 | c.1075G>T | p.Glu359* | exon 2 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152994861 | c.1075G>C | p.Glu359Gln | exon 2 | VUS, frequency 1/177755 in non-ALD alleles (323). |
| 152994862 | c.1076_77delAG | p.Glu359Argfs*41 | exon 2 | Pathogenic, identified in 2 ALD cases (37, 145). Deleterious mutation. |
| 152994864 | c.1078_1080delinsC | p.Ser360Argfs*40 | exon 2 | Pathogenic, identified in a single ALD case (250). Deleterious mutation. |
| 152994865 | c.1079C>G | p.Ser360* | exon 2 | Pathogenic, identified in 2 ALD cases (33). Deleterious mutation. |
| 152994868 | c.1081+1G>A | IVS 2 | VUS, no clinical info provided (266). | |
| 152994868 | c.1081+1G>T | p.Asp361fs*? | IVS 2 | Pathogenic, identified in 2 ALD cases (32). Deleterious mutation. |
| 152994872 | c.1081+5G>T | p.Asp361fs*? | IVS 2 | Pathogenic, identified in 2 ALD cases (32). Deleterious mutation. |
| 152994872 | c.1081+5G>C | p.Asp361fs*? | IVS 2 | Pathogenic, identified in a single ALD case (104). Deleterious mutation. No detectable ALDP expression in patient cells (104). |
| 152994875 | c.1081+8C>T | IVS 2 | VUS, frequency 1/177225 in non-ALD alleles (323). | |
| 153001534 | c.1082-32>delC | IVS 2 | Benign, based on its frequency of 82/193725 in non-ALD alleles (323) | |
| 153001535 | c.1082-31C>T | IVS 2 | VUS, frequency 3/171145 in non-ALD alleles (323). | |
| 153001539 | c.1082-27G>A | IVS 2 | Likely benign, based on frequency 4/172834 in non-ALD alleles (323). | |
| 153001541 | c.1082-25C>T | IVS 2 | VUS, frequency 1/174346 in non-ALD alleles (323). | |
| 153001545 | c.1082-21C>T | IVS 2 | VUS, frequency 1/21818 in non-ALD alleles (323). | |
| 153001547 | c.1082-19C>G | IVS 2 | Benign, based on its frequency of 86/200838 in non-ALD alleles (323) | |
| 153001547 | c.1082-19C>T | IVS 2 | VUS, frequency 2/175598 in non-ALD alleles (323). | |
| 153001562 | c.1082-4G>A | IVS 2 | VUS, no clinical info provided (266). | |
| 153001565 | c.1082-1G>A | IVS 2 | VUS, 2 ClinVar entries, but no clinical info provided (266). | |
| 153001566 | c.1082A>G | p.Asp361Gly | exon 3 | Likely benign, based on frequency 4/181632 in non-ALD alleles (323). |
| 153001567 | c.1083T>A | p.Asp361Glu | exon 3 | VUS, frequency 1/177463 in non-ALD alleles (323). |
| 153001568 | c.1084G>A | p.Ala362Thr | exon 3 | VUS, frequency 1/177465 in non-ALD alleles (323) |
| 153001574 | c.1090del | p.Ala364Profs*2 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001576 | c.1092del | p.Ala365* | exon 3 | Pathogenic, identified in a single ALD case (48). Deleterious mutation. |
| 153001576 | c.1092_93insA | p.Val365Serfs*36 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001577 | c.1093G>A | p.Val365Met | exon 3 | Likely benign, based on frequency 5/177817 controle in non-ALD alleles (323). |
| 153001577 | c.1093G>C | p.Val365Leu | exon 3 | VUS, frequency 1/177817 in non-ALD alleles (323) |
| 153001578 | c.1094T>A | p.Val365Glu | exon 3 | VUS, frequency 1/177881 in non-ALD alleles (323) |
| 153001580 | c.1096A>T | p.Lys366* | exon 3 | Pathogenic, identified in 4 ALD cases (181, 266). Deleterious mutation. |
| 153001581 | c.1097A>G | p.Lys366Arg | exon 3 | VUS, frequency 1/178004 in non-ALD alleles (323) |
| 153001585 | c.1101_1108dup | p.Leu370Trpfs*12 | exon 3 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153001593 | c.1109T>A | p.Leu370* | exon 3 | Pathogenic, identified in 3 ALD cases (120). Deleterious mutation. |
| 153001595 | c.1111G>T | p.Glu371* | exon 3 | Pathogenic, identified in ALD newborn screening (302). Deleterious mutation. |
| 153001597 | c.1113A>C | p.Glu371Asp | exon 3 | VUS, frequency 1/178342 in non-ALD alleles (323) |
| 153001598 | c.1114A>T | p.Lys372* | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001599 | c.1115del | p.Lys372Argfs*7 | exon 3 | Likely pathogenic, identified in a single ALD case (225). |
| 153001601 | c.1117A>T | p.Lys373* | exon 3 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001601 | c.1117A>G | p.Lys373Glu | exon 3 | Benign based on frequency 21/200035 in non-ALD alleles (323). |
| 153001601 | c.1117_19del | p.Lys373del | exon 3 | Likely pathogenic, identified in a single ALD case (33). Likely deleterious mutation. |
| 153001603 | c.1119G>C | p.Lys373Asn | exon 3 | VUS, frequency 1/178411 in non-ALD alleles (323). |
| 153001604 | c.1120G>A | p.Glu374Lys | exon 3 | VUS, frequency 2/178403 in non-ALD alleles (323). |
| 153001609 | c.1126del | p.Glu376Serfs*3 | exon 3 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001610 | c.1126G>C | p.Glu376Gln | exon 3 | Likely benign, based on frequency 6/200118 in non-ALD alleles (323). |
| 153001610 | c.1126G>T | p.Glu376* | exon 3 | Pathogenic, identified in 2 ALD cases (200, 266). Deleterious mutation. |
| 153001619 | c.1135_36insC | p.Ser379Thrfs*22 | exon 3 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP expression in patient cells (7). |
| 153001621 | c.1137dup | p.Glu380Argfs*21 | exon 3 | Pathogenic, identified in a single ALD case (104). Deleterious mutation. |
| 153001621 | c.1137C>G | p.Ser379Arg | exon 3 | Likely pathogenic, identified in a single ALD case (33). |
| 153001622 | c.1138_1151del | p.Glu380Leufs*16 | exon 3 | Pathogenic, identified in a single ALD case (226). Deleterious mutation. |
| 153001622 | c.1138G>T | p.Glu380* | exon 3 | Pathogenic, identified in a single ALD case (200). Deleterious mutation. |
| 153001622 | c.1138G>A | p.Glu380Lys | exon 3 | VUS, frequency 1/178506 in non-ALD alleles (323). |
| 153001622 | c.1138G>A | p.Glu380Lys | exon 3 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 153001625 | c.1141C>T | p.Arg381Cys | exon 3 | Likely benign, identified in ALD newborn screening (274), but also in the gnomAD database (323) frequency 5/204949 in non-ALD alleles. |
| 153001626 | c.1142G>A | p.Arg381His | exon 3 | Likely benign, based on frequency 6/200072 in non-ALD alleles (323). |
| 153001628 | c.1144A>C | p.Thr382Pro | exon 3 | Pathogenic, identified in 2 ALD cases (195). |
| 153001629 | c.1145C>G | p.Thr382Arg | exon 3 | Likely pathogenic, identified in a single ALD case (307). |
| 153001632 | c.1148_1157del | p.Glu383Valfs*7 | exon 3 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153001634 | c.1150G>A | p.Ala384Thr | exon 3 | VUS, frequency 1/178617 in non-ALD alleles (323). |
| 153001635 | c.1151C>G | p.Ala384Gly | exon 3 | VUS, frequency 2/178634 in non-ALD alleles (323). |
| 153001639 | c.1155del | p.Phe385Leufs*8 | exon 3 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 153001640 | c.1156A>G | p.Thr386Ala | exon 3 | VUS, frequency 1/178645 in non-ALD alleles (323). |
| 153001640 | c.1156A>T | p.Thr386Ser | exon 3 | VUS, frequency 1/21583 in non-ALD alleles (323). |
| 153001640 | c.1156A>C | p.Thr386Pro | exon 3 | VUS, no clinical info provided (266). |
| 153001643 | c.1159del | p.Ile387Leufs*6 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001647 | c.1163_64insG | p.Arg389Profs*12 | exon 3 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153001649 | c.1165C>G | p.Arg389Gly | exon 3 | Pathogenic, identified in 4 ALD cases (15, 60, 100, 266). |
| 153001649 | c.1165C>T | p.Arg389Cys | exon 3 | Pathogenic, identified in 17 ALD cases (58, 98, 181, 247, 252, 266, 306, 316). |
| 153001649 | c.[1165C>T; 1224+1GT>TG] | p.[Arg389Cys; Val409fs*?] | IVS 3 + exon 3 | Pathogenic, identified in a single ALD case (33). 1224+1GT>TG is a VUS. |
| 153001650 | c.1166G>A | p.Arg389His | exon 3 | Pathogenic, identified in 46 ALD cases (13, 16, 22, 32, 60, 97, 111, 139, 141, 146, 178, 218, 221, 266, 274, 284, 288, 290, 294, 295). Reduced (41% of control cells) ALDP in patient cells (139, 141, 290). |
| 153001653 | c.1169A>C | p.Asn390Thr | exon 3 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001655 | c.1171_80del | p.Leu391Argfs*16 | exon 3 | Pathogenic, identified in 2 ALD cases (60). Deleterious mutation. |
| 153001655 | c.1171_1178del | p.Leu391Serfs*7 | exon 3 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153001656 | c.1172_1175del | p.Leu391Argfs*18 | exon 3 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153001656 | c.1172T>C | p.Leu391Pro | exon 3 | Likely pathogenic, identified in a single ALD case (68). |
| 153001656 | c.1172T>G | p.Leu391Arg | exon 3 | VUS, frequency 1/178700 in non-ALD alleles (323) |
| 153001658 | c.1174C>G | p.Leu392Val | exon 3 | Pathogenic, identified in 2 ALD cases (33, 88). |
| 153001658 | c.1174_81delinsAAT | p.Leu392Asnfs*7 | exon 3 | Pathogenic, identified in a single ALD case (130). Deleterious mutation. |
| 153001663 | c.1179_80del | p.Ala394Glyfs*6 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001664 | c.1180del | p.Ala394Argfs*16 | exon 3 | Pathogenic, identified in 3 ALD cases (120). Deleterious mutation. |
| 153001665 | c.1181C>T | p.Ala394Val | exon 3 | VUS, frequency 2/200202 in non-ALD alleles (323). |
| 153001667 | c.1183del | p.Ala395Leufs*15 | exon 3 | Pathogenic, identified in a single ALD case (125). Deleterious mutation. |
| 153001668 | c.1184C>T | p.Ala395Val | exon 3 | VUS, identified 2x in ALD newborn screening (274, 294), but has not yet been associated with disease. |
| 153001670 | c.1186G>A | p.Ala396Thr | exon 3 | Pathogenic, identified in 8 ALD cases (33, 60, 181, 289). No detectable ALDP in patient cells (60). |
| 153001671 | c.1187C>T | p.Ala396Val | exon 3 | Likely pathogenic, identified in a single ALD case (189). |
| 153001674 | c.1190A>G | p.Asp397Gly | exon 3 | VUS, frequency 1/178725 in non-ALD alleles (323). |
| 153001676 | c.1192G>A | p.Ala398Thr | exon 3 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001679 | c.1195_1196del | p.Ile399* | exon 3 | Pathogenic, identified in ALD newborn screening (302). Deleterious mutation. |
| 153001685 | c.1201C>T | p.Arg401Trp | exon 3 | Pathogenic, identified in 22 ALD cases (24, 29, 32, 33, 51, 87, 88, 90, 96, 100, 145, 154, 266, 272), 284. |
| 153001685 | c.1201C>G | p.Arg401Gly | exon 3 | Pathogenic, identified in 2 ALD cases (100, 154). |
| 153001686 | c.1202G>A | p.Arg401Gln | exon 3 | Pathogenic, identified in 46 ALD cases (8, 15, 22, 29, 32, 33, 40, 47, 49, 60, 71, 72, 86, 88, 93, 98, 105, 125, 126, 158, 235, 263, 266, 274, 288, 289, 319). Normal ALDP level in patient cells (22, 32, 33, 49, 60, 72), but non-functional. |
| 153001686 | c.1202G>T | p.Arg401Leu | exon 3 | Likely pathogenic, identified in a single ALD case (227). |
| 153001687 | c.1203del | p.Ile402Serfs*8 | exon 3 | Pathogenic, identified in 2 ALD cases (264, 266). Deleterious mutation. |
| 153001689 | c.1205T>A | p.Ile402Asn | exon 3 | Pathogenic, identified in 2 ALD cases (131). No detectable ALDP in patient cells (131). |
| 153001692 | c.1208T>A | p.Met403Lys | exon 3 | Likely pathogenic, identified in a single ALD case (227). |
| 153001693 | c.1209del | p.Met403Ilefs*7 | exon 3 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153001694 | c.1210T>C | p.Ser404Pro | exon 3 | Pathogenic, identified in 3 ALD cases (59, 64, 132). |
| 153001695 | c.1211C>A | p.Ser404* | exon 3 | Pathogenic, identified in a single ALD case (98). Deleterious mutation. |
| 153001695 | c.1211C>T | p.Ser404Leu | exon 3 | VUS, frequency 1/178707 in non-ALD alleles (323). |
| 153001696 | c.1212_14del | p.Ser405del | exon 3 | Pathogenic, identified in 3 ALD cases (84, 287, 289). Likely deleterious mutation. |
| 153001697 | c.1213T>C | p.Ser405Pro | exon 3 | Likely pathogenic, identified in a single ALD case (137). |
| 153001698 | c.1214C>A | p.Ser405* | exon 3 | Pathogenic, identified in a single ALD case (145). Deleterious mutation. |
| 153001702 | c.1218C>G | p.Tyr406* | exon 3 | Pathogenic, identified in 2 ALD cases (219). Deleterious mutation. |
| 153001703 | c.1219A>T | p.Lys407* | exon 3 | Pathogenic, identified in 3 ALD cases (33, 49, 266). Deleterious mutation. |
| 153001708 | c.1224G>A | p.Val409fs*? | exon 3 | Pathogenic, identified in 3 ALD cases (13, 315). Deleterious mutation. |
| 153001709 | c.1224+1G>T | p.Val409fs*? | IVS 3 | Pathogenic, identified in 2 ALD cases (245). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001709 | c.1224+1GT>TG | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (58). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001710 | c.1224+2T>C | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (64). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001710 | c.1224+2T>A | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (252). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001710 | c.1224+2T>G | p.Val409fs*? | IVS 3 | Pathogenic, identified in 2 ALD cases (103, 318). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001712 | c.1224+4C>A | IVS 3 | VUS, frequency 1/178646 in non-ALD alleles (323). | |
| 153001713 | c.1224+5C>T | IVS 3 | VUS, frequency 1/178636 in non-ALD alleles (323). | |
| 153001773 | c.1225-26G>T | IVS 3 | Likely benign, based on frequency 9/178416 in non-ALD alleles (323). | |
| 153001790 | c.1225-9C>T | IVS 3 | VUS, frequency 2/178534 in non-ALD alleles (323). | |
| 153001791 | c.1225-8T>A | IVS 3 | VUS, frequency 1/178537 in non-ALD alleles (323). | |
| 153001792 | c.1225-7_1239del22 | p.Val409fs*? | IVS 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001797 | c.1225-2A>C | p.Val409fs*? | IVS 3 | Pathogenic, identified in 2 ALD cases (33, 246). Deleterious mutation. |
| 153001797 | c.1225-2A>G | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (96). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001798 | c.1225-1G>A | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (274). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001802 | c.1228A>T | p.Thr410Ser | exon 4 | Likely benign, based on frequency 4/178585 in non-ALD alleles (323). |
| 153001803 | c.1229C>A | p.Thr410Lys | exon 4 | VUS, frequency 1/178582 in non-ALD alleles (323). |
| 153001803 | c.1229C>T | p.Thr410Met | exon 4 | VUS, frequency 3/178582 in non-ALD alleles (323). |
| 153001811 | c.1237G>A | p.Ala413Pro | exon 4 | Likely pathogenic, identified in a single ALD case (33). |
| 153001811 | c.1237G>C | p.Ala413Pro | exon 4 | Likely pathogenic, identified in a single ALD case (33). |
| 153001814 | c.1240_1243delGGCT | p.Gly414Thrfs*26 | exon 4 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153001816 | c.1242_1255del | p.Tyr415Alafs*8 | exon 4 | Pathogenic, identified in a single ALD case (211). Deleterious mutation. |
| 153001818 | c.1244A>G | p.Tyr415Cys | exon 4 | Likely pathogenic, identified in a single ALD case (84). |
| 153001820 | c.1246A>C | p.Thr416Pro | exon 4 | Pathogenic, identified in 3 ALD cases (313). |
| 153001821 | c.1247C>G | p.Thr416Arg | exon 4 | Pathogenic, identified in 6 ALD cases within a single family (299). |
| 153001821 | c.1247C>A | p.Thr416Lys | exon 4 | VUS, no clinical info provided (266). |
| 153001822 | c.1248del | p.Ala417Profs*24 | exon 4 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001824 | c.1250del | p.Arg418Glyfs*23 | exon 4 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP in patient cells (7). |
| 153001826 | c.1252C>T | p.Arg418Trp | exon 4 | Pathogenic, identified in 30 ALD cases (8, 15, 29, 40, 58, 145, 165, 177, 178, 191, 228, 263, 266, 288, 292, 302, 306). Affects ALDP stability in patient cells (33, 58, 165). |
| 153001827 | c.1253G>C | p.Arg418Pro | exon 4 | VUS, no clinical info provided (266). |
| 153001827 | c.1253G>A | p.Arg418Gln | exon 4 | VUS, identified in 9 ALD newborn screening cases (191, 245, 267, 274, 294, 303) and 1x in the gnomAD database (X:153001827 G/A), but has not yet been associated with disease. |
| 153001829 | c.1255G>A | p.Val419Met | exon 4 | Likely benign, based on frequency 4/178589 in non-ALD alleles (323). |
| 153001829 | c.1255G>C | p.Val419Leu | exon 4 | VUS, frequency 1/178589 in non-ALD alleles (323). |
| 153001830 | c.1256T>G | p.Val419Gly | exon 4 | Likely pathogenic, identified in a single ALD case (292). |
| 153001830 | c.1256T>C | p.Val419Ala | exon 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001833 | c.1259A>T | p.His420Leu | exon 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001833 | c.1259A>C | p.His420Pro | exon 4 | Likely pathogenic, identified in a single ALD case (104) and ALD newborn screening (274). |
| 153001834 | c.1260C>A | p.His420Gln | exon 4 | Likely benign, based on frequency 7/178596 in non-ALD alleles (323). |
| 153001835 | c.1261G>A | p.Glu421Lys | exon 4 | VUS, frequency 1/178608 in non-ALD alleles (323). |
| 153001837 | c.1263delG | p.Met422Cysfs*19 | exon 4 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001841 | c.1267T>A | p.Phe423Ile | exon 4 | VUS, frequency 1/178615 in non-ALD alleles (323). |
| 153001842 | c.1268T>C | p.Phe423Ser | exon 4 | Likely pathogenic, identified in a single ALD case (145). |
| 153001844 | c.1270C>T | p.Gln424* | exon 4 | Pathogenic, identified in 3 ALD cases (32, 266). Deleterious mutation. |
| 153001844 | c.1270C>G | p.Gln424Glu | exon 4 | VUS, reported in combination with a pathogenic mutation (289). |
| 153001844 | c.1270delC | p.Gln424Argfs*17 | exon 4 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 153001845 | c.1271_1275del | p.Gln424Leufs*2 | exon 4 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153001847 | c.1273G>A | p.Val425Ile | exon 4 | VUS, no clinical info provided (266). |
| 153001849 | c.1275delA | p.Phe426Leufs*15 | exon 4 | Pathogenic, identified in a single ALD case (314). Deleterious mutation. |
| 153001853 | c.1279_81del | p.Glu427del | exon 4 | Likely pathogenic, identified in a single ALD case (49). |
| 153001860 | c.1287del | p.Gln430Serfs*11 | exon 4 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001862 | c.1288C>T | p.Gln430* | exon 4 | Pathogenic, identified in 4 ALD cases (49, 266, 274). Deleterious mutation. |
| 153001862 | c.[1288C>T; 1390C>T] | p.[Gln430*; Arg464*] | exon 4 + exon 4 | Pathogenic, identified in a single ALD case (33). Two deleterious mutations. |
| 153001865 | c.1291C>T | p.Arg431Cys | exon 4 | VUS, frequency 1/178596 in non-ALD alleles (323). |
| 153001866 | c.1292G>A | p.Arg431His | exon 4 | VUS, frequency 2/178590 in non-ALD alleles (323). |
| 153001869 | c.1295G>A | p.Cys432Tyr | exon 4 | VUS, frequency 1/178586 in non-ALD alleles (323). |
| 153001878 | c.1304A>G | p.Lys435Arg | exon 4 | VUS, frequency 1/178568 in non-ALD alleles (323). |
| 153001889 | c.1315G>T | p.Glu439* | exon 4 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153001896 | c.1322dupA | p.Asp442Glyfs*114 | exon 4 | Pathogenic, identified in 3 ALD cases (141, 290). Deleterious mutation. No detectable ALDP in patient cells (141, 290). |
| 153001900 | c.1326C>G | p.Asp442Glu | exon 4 | VUS, frequency 1/178469 in non-ALD alleles (323). |
| 153001901 | c.1327G>A | p.Ala443Thr | exon 4 | Likely benign, based on frequency 4/178453 in non-ALD alleles (323). |
| 153001904 | c.1330C>T | p.Gln444* | exon 4 | Pathogenic, identified in 4 ALD cases (32, 60, 289). Deleterious mutation. |
| 153001907 | c.1333G>T | p.Ala445Ser | exon 4 | VUS, frequency 1/182787 in non-ALD alleles (323). |
| 153001908 | c.1334C>T | p.Ala445Val | exon 4 | VUS, identified in ALD newborn screening (274) and reported 3x in the gnomAD database (323) frequency 3/182753 in non-ALD alleles, but has not yet been associated with disease |
| 153001919 | c.1345A>G | p.Thr449Ala | exon 4 | VUS, frequency 1/21917 in non-ALD alleles (323). |
| 153001922 | c.1348A>G | p.Ile450Val | exon 4 | VUS, no clinical info provided (266). |
| 153001924 | c.1350A>G | p.Ile450Met | exon 4 | VUS, frequency 2/178260 in non-ALD alleles (323). |
| 153001928 | c.1354C>T | p.Arg452Trp | exon 4 | Benign, based on its frequency of 95/204219 in non-ALD alleles (323). |
| 153001929 | c.1355G>T | p.Arg452Leu | exon 4 | VUS, frequency 1/178072 in non-ALD alleles (323). |
| 153001929 | c.1355G>A | p.Arg452Gln | exon 4 | Benign, confirmed by biochemical testing in a female: normal plasma VLCFA levels and C26:0-lysoPC (200, 291) and a negative family history. |
| 153001932 | c.1358delinsGA | p.Ser453* | exon 4 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153001933 | c.1359delT | p.Gly454Valfs*8 | exon 4 | Pathogenic, identified in 2 ALD cases (60, 266). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153001940 | c.1366dup | p.Arg456Profs*100 | exon 4 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153001940 | c.1366C>T | p.Arg456Cys | exon 4 | VUS, frequency 2/177723 in non-ALD alleles (323). |
| 153001941 | c.1367del | p.Arg456Leufs*6 | exon 4 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001941 | c.1367G>A | p.Arg456His | exon 4 | Likely benign, based on frequency 7/177689 in non-ALD alleles (323). |
| 153001941 | c.1367G>T | p.Arg456Leu | exon 4 | VUS, frequency 1/177689 in non-ALD alleles (323). |
| 153001941 | c.1367G>C | p.Arg456Pro | exon 4 | VUS, frequency 1/177689 in non-ALD alleles (323). |
| 153001943 | c.1369G>C | p.Val457Leu | exon 4 | VUS, frequency 1/177679 in non-ALD alleles (323). |
| 153001946 | c.1372G>T | p.Glu458* | exon 4 | Pathogenic, identified in a single ALD case (29). Deleterious mutation. |
| 153001956 | c.1382del | p.Leu461Argfs*97 | exon 4 | Pathogenic, identified in a single ALD case (228). Deleterious mutation |
| 153001960 | c.1386del | p.Ile463Serfs*95 | exon 4 | Pathogenic, identified in a single ALD case (306). Deleterious mutation |
| 153001961 | c.1387A>T | p.Ile463Phe | exon 4 | VUS, frequency 1/176350 in non-ALD alleles (323). |
| 153001964 | c.1390C>T | p.Arg464* | exon 4 | Pathogenic, identified in 25 ALD cases (6, 32, 33, 47, 49, 59, 62, 64, 96, 105, 132, 141, 266, 280, 290, 294, 302). Deleterious mutation. No detectable ALDP in patient cells (6, 32, 77, 141, 290). |
| 153001964 | c.1390_91insA | p.Arg464Glnfs*92 | exon 4 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001965 | c.1391G>A | p.Arg464Gln | exon 4 | Likely benign based on frequency 6/197263 in non-ALD alleles (323). |
| 153001965 | c.1391G>C | p.Arg464Pro | exon 4 | VUS, frequency 3/175733 in non-ALD alleles (323). |
| 153001967 | c.1393G>A | p.Gly465Ser | exon 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001968 | c.1393+1G>A | p.Val425fs*92 | IVS 4 | Pathogenic, identified in 2 ALD cases (135, 288). Activation of cryptic spice site, confirmed by functional studies (135). |
| 153001968 | c.1393+1G>T | IVS 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. | |
| 153001969 | c.1393+2T>A | p.Phe426Argfs*92 | IVS 4 | Pathogenic, identified in 7 ALD cases (159, 252). Activation of cryptic spice site, confirmed by functional studies (159). |
| 153002609 | c.1394-2A>G | p.Gly465fs*? | IVS 4 | Pathogenic, identified in 4 ALD cases (32, 71, 75, 209). Activation of cryptic spice site, confirmed by functional studies (75). |
| 153002610 | c.1394-1G>C | IVS 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. | |
| 153002613 | c.1396C>T | p.Gln466* | exon 5 | Pathogenic, identified in 4 ALD cases (13, 32, 158, 266). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153002616 | c.1399G>A | p.Val467Met | exon 5 | VUS, frequency 1/177603 in non-ALD alleles (323). |
| 153002616 | c.[1399G>A; 1850G>A] | p.[Val467Met; Arg617His] | exon 5 + exon 8 | Pathogenic, identified in 4 ALD cases (33, 235). p.Val467Met is a VUS; p.Arg617His is a true pathogenic mutation. |
| 153002617 | c.1400_05del | p.Val467_Val468del | exon 5 | Pathogenic, identified in 2 ALD cases (143). |
| 153002619 | c.1402G>A | p.Val468Met | exon 5 | VUS, frequency 1/177657 in non-ALD alleles (323). |
| 153002625 | c.1408G>A | p.Val470Met | exon 5 | VUS, frequency 1/182069 in non-ALD alleles (323). |
| 153002628 | c.1411_12insA | p.Gln472Thrfs*84 | exon 5 | Pathogenic, identified in 2 ALD cases (13). Deleterious mutation. |
| 153002629 | c.1412_13del | p.Glu471Alafs*84 | exon 5 | Pathogenic, identified in 2 ALD cases (13). Deleterious mutation. |
| 153002631 | c.1414C>T | p.Gln472* | exon 5 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153002631 | c.1414dupC | p.Gln472Profs*84 | exon 5 | Pathogenic, identified in a single ALD case (47). Deleterious mutation. |
| 153002632 | c.1415_16delAG | p.Gln472Argfs*83 | exon 5 | Pathogenic, identified in 182 ALD cases (1, 7, 8, 10, 13, 15, 16, 22, 24, 29, 32, 33, 36, 40, 43, 48,, 49, 53, 58, 59, 60, 62, 64, 85, 86, 88, 90, 93, 100, 105, 108, 110, 119, 120, 125, 132, 145, 146, 158, 164, 169, 174, 178, 191, 214, 218, 228, 235, 239, 252, 258, 266, 274, 274, 284, 286, 289, 290, 292, 294 302, 306, 311, 316, 319). Deleterious mutation. No detectable ALDP in patient cells (7, 22, 32, 36, 53, 58, 60, 146). |
| 153002633 | c.1416_17del | p.Gly473Aspfs*82 | exon 5 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153002637 | c.1420del | p.Ile474Serfs*84 | exon 5 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells(60). |
| 153002639 | c.1421T>C | p.Ile474Thr | exon 5 | Pathogenic, identified in 4 ALD cases (33, 88, 125). |
| 153002638 | c.1422_26del | p.Ile474Metfs*80 | exon 5 | Pathogenic, identified in a single ALD case (66). Deleterious mutation. |
| 153002643 | c.1426T>G | p.Cys476Gly | exon 5 | VUS, frequency 1/177774 in non-ALD alleles (323) |
| 153002645 | c.1428C>A | p.Cys476* | exon 5 | Pathogenic, identified in a single ALD case (125). Deleterious mutation. |
| 153002645 | c.1428C>G | p.Cys476Trp | exon 5 | VUS, frequency 1/177715 in non-ALD alleles (323). |
| 153002646 | c.1429G>A | p.Glu477Lys | exon 5 | Likely benign based on frequency 4/177731 in non-ALD alleles (323). |
| 153002646 | c.1429G>T | p.Glu477* | exon 5 | Pathogenic, identified in 6 ALD cases (8, 15, 33, 266, 274). Deleterious mutation. |
| 153002647 | c.1430del | p.Glu477Glyfs*81 | exon 5 | Pathogenic, identified in 3 ALD cases (91, 100). Deleterious mutation. |
| 153002653 | c.1436del | p.Ile479Thrfs*79 | exon 5 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153002655 | c.1438C>A | p.Pro480Thr | exon 5 | Benign, confirmed by biochemical testing (normal plasma VLCFA and C26:0-lysoPC) (290) and functional testing in fibroblasts showing normal results (290). |
| 153002656 | c.1439C>G | p.Pro480Arg | exon 5 | VUS, identified in ALD newborn screening (302), but has not yet been associated with disease. |
| 153002657 | c.1440del | p.Ile481Serfs*77 | exon 5 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153002658 | c.1441A>T | p.Ile481Phe | exon 5 | Likely pathogenic, identified in a single ALD case (100). |
| 153002658 | c.1441A>G | p.Ile481Val | exon 5 | VUS, frequency 1/177634 in non-ALD alleles (323). |
| 153002659 | c.1442T>C | p.Ile481Thr | exon 5 | VUS, no clinical info provided (266). |
| 153002661 | c.1444G>A | p.Val482Ile | exon 5 | Likely benign based on frequency 8/199256 in non-ALD alleles (323). |
| 153002662 | c.1445T>A | p.Val482Asp | exon 5 | Likely pathogenic, identified in a single ALD case (142). |
| 153002664 | c.1447dup | p.Thr483Asnfs*73 | exon 5 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 153002665 | c.1448C>T | p.Thr483Met | exon 5 | VUS, identified 11 times in ALD newborn screening (274, 284, 290, 294, 312). Affects ALDP function in fibroblasts (290), but has not yet been associated with disease, but has not yet been associated with disease. |
| 153002667 | c.1450C>T | p.Pro484Ser | exon 5 | VUS, no clinical info provided (266). |
| 153002667 | c.1450C>G | p.Pro484Ala | exon 5 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153002668 | c.1451C>G | p.Pro484Arg | exon 5 | Pathogenic, identified in 5 ALD cases (3). |
| 153002669 | c.1452_1482del | p.Glu487Trpfs*61 | exon 5 | Pathogenic, identified in a single ALD case (239). Deleterious mutation. |
| 153002671 | c.1454C>G | p.Ser485* | exon 5 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153002671 | c.1454C>A | p.Ser485* | exon 5 | Pathogenic, identified in 2 ALD cases (33, 266). Deleterious mutation. |
| 153002672 | c.1455_59delinsGGGA | p.Glu487Argfs*71 | exon 5 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153002673 | c.1456G>A | p.Gly486Arg | exon 5 | Likely benign based on frequency 5/176936 in non-ALD alleles (323). |
| 153002679 | c.1462_63insTGG | p.Val488_Val489insVal | exon 5 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153002683 | c.1466T>C | p.Val489Ala | exon 5 | VUS, frequency 1/180028 in non-ALD alleles (323). |
| 153002686 | c.1469_71del | p.Val490del | exon 5 | Pathogenic, identified in 2 ALD cases (33, 274). Likely a deleterious mutation. |
| 153002687 | c.1470_71insGTG | p.Val490_Ala491insVal | exon 5 | Pathogenic, identified in a single ALD case (7). No detectable ALDP in patient cells (7). |
| 153002687 | c.1470_72dup | p.Ala491dup | exon 5 | Likely pathogenic, identified in a single ALD case (33). |
| 153002694 | c.1477_1488+11del | p.Leu493_Arg496del | exon 5 | Likely pathogenic, identified in a single ALD case (108). |
| 153002695 | c.1478T>C | p.Leu493Pro | exon 5 | Pathogenic, identified in 4 ALD cases (33, 88, 235). |
| 153002698 | c.1481del | p.Asn494Thrfs*64 | exon 5 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153002701 | c.1484T>A | p.Ile495Asn | exon 5 | VUS, no clinical info provided (266). |
| 153002704 | c.1487G>C | p.Arg496Thr | exon 5 | VUS, frequency 1/174592 in non-ALD alleles (323). |
| 153002706 | c.1488+1G>A | p.Val497fs*? | IVS 5 | Pathogenic, identified in 4 ALD cases (33, 40, 200, 266). Deleterious mutation. |
| 153002708 | c.1488+3A>G | p.Val497fs*? | IVS 5 | Pathogenic, identified in 4 ALD cases (32, 290). No detectable ALDP in patient cells (290). |
| 153005536 | c.1489-10delC | IVS 5 | Benign, based on its frequency of 1374/197671 in non-ALD alleles (323). East-Asian specific polymorphism (1286/13873 in non-ALD alleles) confirmed by pedigree analysis (68). | |
| 153005537 | c.1489-9C>A | IVS 5 | VUS, frequency 2/175888 in non-ALD alleles (323). | |
| 153005537 | c.1489-9C>T | IVS 5 | VUS, frequency 1/175888 in non-ALD alleles (323). | |
| 153005540 | c.1489-6delC | IVS 5 | Benign, based on its frequency of 1466/202516 in non-ALD alleles (323). East-Asian specific polymorphism (1286/13873 in non-ALD alleles) confirmed by pedigree analysis (68). | |
| 153005544 | c.1489-2A>G | p.Val497fs*? | IVS 5 | Likely pathogenic, identified in a single ALD case (198). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153005545 | c.1489-1G>A | p.Val497Alafs*51 | IVS 5 | Pathogenic, identified in a single ALD case (322). Activation of cryptic splice site in exon 6, confirmed by functional studies (322). Deleterious mutation. |
| 153005545 | c.1489-1_1489delinsTT | p.Val497fs*? | IVS 5 | Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153005554 | c.1497_1505del | p.Glu499_His502delinsAsp | exon 6 | Likely pathogenic, identified in a single ALD case (105). |
| 153005556 | c.1499G>T | p.Gly500Val | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005558 | c.1501A>C | p.Met501Leu | exon 6 | Pathogenic, identified in a single ALD case (60). Normal ALDP level in patient cells (60), but non-functional |
| 153005558 | c.1501A>T | p.Met501Leu | exon 6 | Pathogenic (same consequence as 1501A>C), but no clinical info provided (266). Deleterious mutation. |
| 153005559 | c.1502del | p.Met501Serfs*57 | exon 6 | Pathogenic, identified in a single ALD case (197). Deleterious mutation. |
| 153005562 | c.1505_10del | p.His502_Leu503del | exon 6 | Likely pathogenic, identified in a single ALD case (58). |
| 153005562 | c.1505_06insC | p.Leu503Serfs*53 | exon 6 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153005565 | c.1508T>C | p.Leu503Pro | exon 6 | Likely pathogenic, identified in a single ALD case (146). |
| 153005565 | c.1508_09insC | p.Leu504Alafs*52 | exon 6 | Pathogenic, identified in a single ALD case (27). Deleterious mutation. |
| 153005567 | c.1510C>T | p.Leu504Phe | exon 6 | VUS, no clinical info provided (266). |
| 153005571 | c.1514T>C | p.Ile505Thr | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005572 | c.1515C>G | p.Ile505Met | exon 6 | Pathogenic, identified in 4 ALD cases (32, 58). Affects ALDP stability in patient cells (32, 58). |
| 153005572 | c.1515_19delinsGCA | p.Ile505Metfs*50 | exon 6 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. |
| 153005573 | c.1516dup | p.Thr506Asnfs*50 | exon 6 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 153005574 | c.1517C>T | p.Thr506Ile | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005576 | c.1519G>A | p.Gly507Ser | exon 6 | Pathogenic, identified in 4 ALD cases (32, 292). |
| 153005577 | c.1520G>A | p.Gly507Asp | exon 6 | Pathogenic, identified in 2 ALD cases (68, 88). |
| 153005577 | c.1520G>T | p.Gly507Val | exon 6 | Likely pathogenic, identified in a single ALD case (24). |
| 153005579 | c.1522C>T | p.Pro508Ser | exon 6 | Pathogenic, identified in 2 ALD cases (306) and in ALD newborn screening (238). |
| 153005580 | c.1523C>T | p.Pro508Leu | exon 6 | Pathogenic, identified in 5 ALD cases (93, 289, 306). |
| 153005583 | c.1526A>C | p.Asn509Thr | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005583 | c.1526A>G | p.Asn509Ser | exon 6 | VUS, identified in ALD newborn screening (274) and reported 1x in the gnomAD database (323) frequency 1/182301 in non-ALD alleles, but has not yet been associated with disease. |
| 153005583 | c.1526A>T | p.Asn509Ile | exon 6 | Pathogenic, identified in 4 ALD cases (33, 64, 132, 137). |
| 153005585 | c.1528G>A | p.Gly510Ser | exon 6 | Pathogenic, identified in 2 ALD cases (33, 100). |
| 153005586 | c.1529del | p.Gly510Alafs*48 | exon 6 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153005586 | c.1529G>A | p.Gly510Asp | exon 6 | Pathogenic, identified in 5ALD cases (33, 59, 64, 132, 137). |
| 153005588 | c.1531T>C | p.Cys511Arg | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005589 | c.1532G>A | p.Cys511Tyr | exon 6 | Pathogenic, identified in 2 ALD cases (33, 137). |
| 153005590 | c.1533C>A | p.Cys511* | exon 6 | Pathogenic, identified in 2 ALD cases (33, 49). Deleterious mutation. |
| 153005590 | c.1533C>G | p.Cys511Trp | exon 6 | Likely pathogenic, identified in a single ALD case (137) and ALD newborn screening (294). |
| 153005591 | c.1534G>C | p.Gly512Arg | exon 6 | VUS, no clinical info provided (266). |
| 153005591 | c.1534G>T | p.Gly512Cys | exon 6 | Likely pathogenic, identified in a single ALD case (47). |
| 153005591 | c.1534G>A | p.Gly512Ser | exon 6 | Pathogenic, identified in 48 ALD cases (7, 13, 23, 27, 33, 53, 57, 58, 76, 88, 93, 100, 108, 121, 124, 153, 154, 158, 178, 181, 185, 191, 215, 235, 240, 250, 266, 274, 280, 282, 289, 297, 306). No detectable ALDP in patient cells (7, 23, 53, 58, 260). Mutation results in reduced ATPase activity (194) and reduced protein half-life (260). |
| 153005592 | c.1535G>T | p.Gly512Val | exon 6 | VUS, no clinical info provided (266). |
| 153005592 | c.1535G>A | p.Gly512Asp | exon 6 | Pathogenic, identified in 4 ALD cases (229). |
| 153005594 | c.1537A>T | p.Lys513* | exon 6 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153005594 | c.1537A>C | p.Lys513Gln | exon 6 | Pathogenic, identified in 3 ALD cases (33, 69, 288). |
| 153005595 | c.1538A>G | p.Lys513Arg | exon 6 | Pathogenic, identified in 3 ALD cases (58, 125, 289). No detectable ALDP in patient cells (58). |
| 153005597 | c.1540A>C | p.Ser514Arg | exon 6 | Pathogenic, identified in 5 ALD cases (145, 226, 263). |
| 153005597 | c.1540A>G | p.Ser514Gly | exon 6 | Pathogenic, identified in 2 ALD patienst (32). |
| 153005598 | c.1541G>T | p.Ser514Ile | exon 6 | Pathogenic, identified in 2 ALD cases (88). |
| 153005598 | c.1541G>A | p.Ser514Asn | exon 6 | Pathogenic, identified in 4 ALD cases (58, 145, 274). Affects ALDP stability in patient cells (58). Mutation affects protein-protein interaction (262). |
| 153005601 | c.1544C>A | p.Ser515Tyr | exon 6 | Likely pathogenic, identified in a single ALD case (125). |
| 153005601 | c.1544C>T | p.Ser515Phe | exon 6 | Pathogenic, identified in 12 ALD cases (8, 51, 112, 179, 318). |
| 153005603 | c.1546_1547del | p.Leu516Valfs*39 | exon 6 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153005604 | c.1547T>C | p.Leu516Pro | exon 6 | Pathogenic, identified in 6 ALD cases (33, 58, 71, 225, 289). No detectable ALDP in patient cells (58). |
| 153005608 | c.1551del | p.Arg518Glyfs*40 | exon 6 | Pathogenic, identified in 2 ALD cases (6, 33). Deleterious mutation. |
| 153005609 | c.1552del | p.Arg518Glyfs*40 | exon 6 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153005609 | c.1552C>G | p.Arg518Gly | exon 6 | Pathogenic, identified in 5 ALD cases (59, 64, 132, 137, 266). |
| 153005609 | c.1552C>T | p.Arg518Trp | exon 6 | Pathogenic, identified in 28 ALD cases (6, 7, 32, 33, 53, 58, 88, 90, 125, 133, 137, 227, 274, 281, 289, 319). No detectable ALDP in patient cells (7, 58). |
| 153005610 | c.1553G>A | p.Arg518Gln | exon 6 | Pathogenic, identified in 57 ALD cases (9, 24, 32, 33, 48, 49, 53, 58, 59, 60, 64, 88, 90, 96, 100, 105, 108, 120, 132, 137, 154, 191, 227, 243, 256, 266, 274, 284, 289, 319). No detectable ALDP in patient cells (9, 32, 49, 53, 58, 60). |
| 153005610 | c.1553G>C | p.Arg518Pro | exon 6 | Likely pathogenic, identified in a single ALD case (230). |
| 153005616 | c.1559T>A | p.Leu520Gln | exon 6 | Pathogenic, identified in 5 ALD cases (54, 59, 64, 132, 137). |
| 153005616 | c.1559T>C | p.Leu520Pro | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005619 | c.1562G>A | p.Gly521Asp | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005621 | c.1564G>A | p.Gly522Arg | exon 6 | Pathogenic, identified in 2 ALD cases (7, 58). No detectable ALDP in patient cells (7, 58). |
| 153005623 | c.1566dup | p.Leu523Alafs*33 | exon 6 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153005624 | c.1567C>T | p.Leu523Phe | exon 6 | Pathogenic, identified in 2 ALD cases (96, 235, 290), confirmed by biochemical testing. No detectable ALDP in patient cells (290). |
| 153005624 | c.1567C>A | p.Leu523Ile | exon 6 | VUS, frequency 1/21627 in non-ALD alleles (323). |
| 153005625 | c.1568T>C | p.Leu523Pro | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005627 | c.1570T>C | p.Trp524Arg | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005628 | c.1571G>A | p.Trp524* | exon 6 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153005630 | c.1573C>A | p.Pro525Thr | exon 6 | VUS, identified in ALD newborn screening (297), but has not yet been associated with disease. |
| 153005630 | c.1573C>G | p.Pro525Ala | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005630 | c.1573C>T | p.Pro525Ser | exon 6 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153005631 | c.1574C>T | p.Pro525Leu | exon 6 | VUS, no clinical info provided (266). |
| 153005634 | c.1577C>G | p.Thr526Arg | exon 6 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 153005638 | c.1581C>T | p.Tyr527Tyr | exon 6 | Synonymous (X:153005638 C/T). |
| 153005638 | c.1581C>A | p.Tyr527* | exon 6 | Pathogenic, identified in a single ALD case (105). Deleterious mutation. |
| 153005639 | c.1582G>A | p.Gly528Ser | exon 6 | Benign, confirmed by biochemical testing (144). Frequency 8/199702 in non-ALD alleles (323). |
| 153005642 | c.1585G>A | p.Gly529Ser | exon 6 | Pathogenic, identified in 2 ALD cases (38, 200). |
| 153005642 | c.1585_87del | p.Gly529del | exon 6 | Pathogenic, identified in 2 ALD cases (4, 105) and 1x in ALD newborn screening (297). |
| 153005642 | c.1585delG | p.Gly529Valfs*29 | exon 6 | Pathogenic, identified in 2 ALD cases (21, 62). Deleterious mutation. |
| 153005643 | c.1586_90del | p.Gly529Valfs*25 | exon 6 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. No detectable ALDP in patient cells (49). |
| 153005643 | c.1586G>A | p.Gly529Asp | exon 6 | Pathogenic, identified in 2 ALD cases (33). |
| 153005645 | c.1588G>A | p.Val530Met | exon 6 | VUS, frequency 1/178126 in non-ALD alleles (323) |
| 153005649 | c.1592T>C | p.Leu531Pro | exon 6 | VUS, no clinical info provided (266). |
| 153005649 | c.1592_93insT | p.Tyr532Leufs*24 | exon 6 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 153005654 | c.1597A>C | p.Lys533Gln | exon 6 | VUS, identified 8 times in ALD newborn screening (181, 243, 274), 3x an incidental finding (307, 308) and reported 1x in the gnomAD database (323) frequency 1/182895 in non-ALD alleles. Affects ALDP function in fibroblasts (290), but has not yet been associated with disease. |
| 153005654 | c.1597A>G | p.Lys533Glu | exon 6 | Pathogenic, identified in 2 ALD cases (33, 60). No detectable ALDP in patient cells (60). |
| 153005655 | c.1598A>G | p.Lys533Arg | exon 6 | Likely pathogenic, identified in a single ALD case (183). |
| 153005655 | c.1598_99insA | p.Pro534Alafs*22 | exon 6 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153005656 | c.1599G>T | p.Lys533Asn | exon 6 | Pathogenic, identified in 2 ALD cases (84, 237). Pathogenicity confirmed by in silico molecular modeling (237). |
| 153005656 | c.1599delG | p.Lys533Asnfs*25 | exon 6 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. No detectable ALDP in patient cells (49). |
| 153005657 | c.1600C>A | p.Pro534Thr | exon 6 | VUS, no clinical info provided (266). |
| 153005657 | c.1600C>T | p.Pro534Ser | exon 6 | Likely pathogenic, identified in a single ALD case (33) and 2x in ALD newborn screening (191, 297). |
| 153005658 | c.1601C>T | p.Pro534Leu | exon 6 | Pathogenic, identified in 2 ALD cases (23, 191, 200). No detectable ALDP in patient cells (23, 200). |
| 153005658 | c.1601C>G | p.Pro534Arg | exon 6 | Pathogenic, identified in 5 ALD cases (67, 86, 93, 132, 137). |
| 153005660 | c.1603_04del | p.Pro535Thrfs*20 | exon 6 | Pathogenic, identified in 3 ALD cases (59, 64, 132). Deleterious mutation. |
| 153005660 | c.1603_1991del | p.Pro535Glufs*69 | exon 6 | Pathogenic, identified in 7 ALD cases (16, 32). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153005661 | c.1604del | p.Pro535Hisfs*23 | exon 6 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153005664 | c.1607C>A | p.Pro536His | exon 6 | Likely pathogenic, identified in a single ALD case (84). |
| 153005666 | c.1609C>T | p.Gln537* | exon 6 | Pathogenic, identified in 3 ALD cases (96, 235, 250). Deleterious mutation. |
| 153005668 | c.1611G>C | p.Gln537His | exon 6 | VUS, frequency 2/178177 in non-ALD alleles (323). |
| 153005669 | c.1612C>T | p.Arg538Cys | exon 6 | VUS, frequency 1/178116 in non-ALD alleles (323). |
| 153005670 | c.1613G>A | p.Arg538His | exon 6 | VUS, frequency 1/182755 in non-ALD alleles (323). |
| 153005671 | c.1614_1640dup | p.Met548_Ser549insFYIPQRPY | exon 6 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 153005672 | c.1615A>C | p.Met539Leu | exon 6 | VUS, frequency 3/199708 in non-ALD alleles (323). |
| 153005672 | c.1615A>T | p.Met539Leu | exon 6 | VUS, frequency 1/178110 in non-ALD alleles (323). |
| 153005674 | c.1617G>A | p.Met539Ile | exon 6 | VUS, frequency 1/178094 in non-ALD alleles (323). |
| 153005676 | c.1619T>C | p.Phe540Ser | exon 6 | Pathogenic, identified in 3 ALD cases (24, 232). |
| 153005676 | c.1619T>G | p.Phe540Cys | exon 6 | Likely pathogenic, identified in a single ALD case (96). |
| 153005677 | c.1620C>G | p.Phe540Leu | exon 6 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153005678 | c.1621_1628del | p.Tyr541Alafs*12 | exon 6 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153005678 | c.1621T>C | p.Tyr541His | exon 6 | VUS, frequency 1/182672 in non-ALD alleles (323). |
| 153005679 | c.1622A>G | p.Tyr541Cys | exon 6 | VUS, identified in ALD newborn screening (298), but has not yet been associated with disease. |
| 153005681 | c.1624A>G | p.Ile542Val | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005681 | c.1624_26del | p.Ile542del | exon 6 | Likely pathogenic, identified in a single ALD case (68). Likely a deleterious mutation. |
| 153005684 | c.1627C>T | p.Pro543Ser | exon 6 | Likely pathogenic, identified in a single ALD case (222). |
| 153005685 | c.1628C>G | p.Pro543Arg | exon 6 | Likely pathogenic, identified in a single ALD case (258). |
| 153005685 | c.1628C>T | p.Pro543Leu | exon 6 | Pathogenic, identified in 49 ALD cases (27, 29, 32, 33, 40, 49, 60, 65, 114, 139, 141, 145, 158, 178, 208, 214, 227, 228, 266, 274, 289, 292). No detectable ALDP in patient cells (32, 49, 60, 139, 141). |
| 153005685 | c.1628delC | p.Pro543Argfs*15 | exon 6 | Pathogenic, identified in 4 ALD cases (33, 266, 294, 299). Deleterious mutation. |
| 153005685 | c.1628_34dup | p.Arg545Serfs*13 | exon 6 | Pathogenic, identified in 2 ALD cases (32, 49). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153005687 | c.1630C>A | p.Gln544Lys | exon 6 | Pathogenic, identified in a single ALD case (58). Affects ALDP stability in patient cells (58). |
| 153005688 | c.1631A>G | p.Gln544Arg | exon 6 | Pathogenic, identified in 9 ALD cases (9, 24, 33, 88, 90, 252, 266). Normal ALDP level in patient cells (9), but non-functional (261). |
| 153005690 | c.1633A>T | p.Arg545Trp | exon 6 | Likely pathogenic, identified in a single ALD case (53). |
| 153005691 | c.1634G>A | p.Arg545Lys | exon 6 | VUS, frequency 1/177632 in non-ALD alleles (323). |
| 153005692 | c.1634+1G>A | p.Pro546fs*? | IVS 6 | Pathogenic, identified in 4 ALD cases (6, 49, 60, 132). Deleterious mutation. |
| 153005692 | c.1634+1G>C | p.Pro546fs*? | IVS 6 | Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153005694 | c.1634+3A>T | IVS 6 | VUS, frequency 1/177530 in non-ALD alleles (323). | |
| 153005695 | c.1634+4A>G | IVS 6 | VUS, frequency 1/177483 in non-ALD alleles (323). | |
| 153005696 | c.1634+5G>C | IVS 6 | VUS, frequency 1/177317 in non-ALD alleles (323). | |
| 153006013 | c.1635-16_1645delins CACAGACATGTAGGGC | p.Pro546fs*? | IVS 6 | Pathogenic, identified in a single ALD case (243). Deleterious mutation. |
| 153006022 | c.1635-6C>T | IVS 6 | VUS, frequency 3/199784 in non-ALD alleles (323). | |
| 153006025 | c.1635-3C>G | p.Pro546fs*? | IVS 6 | Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153006026 | c.1635-2A>G | p.Pro546fs*? | IVS 6 | Pathogenic, identified in 5 ALD cases (11, 33). Deleterious mutation. No detectable ALDP in patient cells (33) due to splicing defect (11). |
| 153006027 | c.1635-1G>A | p.Pro546fs*? | IVS 6 | Likely pathogenic, identified in a single ALD case (266). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153006033 | c.1640A>G | p.Tyr547Cys | exon 7 | Pathogenic, identified in 3 ALD cases (33, 104, 124). No detectable ALDP in patient cells (104). |
| 153006035 | c.1642A>G | p.Met548Val | exon 7 | Pathogenic, identified in 3 ALD cases (200, 266), confirmed by biochemical testing. |
| 153006045 | c.1652G>C | p.Gly551Ala | exon 7 | Likely pathogenic, identified in a single ALD case (306), and in ALD newborn screening (274). |
| 153006046 | c.1653insG | p.Ser552Valfs*3 | exon 7 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 153006047 | c.1654T>C | p.Ser552Pro | exon 7 | Pathogenic, identified in 2 ALD cases (28, 33). |
| 153006048 | c.1657del | p.Leu553Cysfs*5 | exon 7 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153006050 | c.1657C>G | p.Leu553Val | exon 7 | Likely pathogenic, identified in a single ALD case (33). |
| 153006053 | c.1660C>A | p.Arg554Ser | exon 7 | Pathogenic, identified in 3 ALD cases (1 male, 2 females from a single family confirmed by biochemical testing) (307) and 2x in ALD newborn screening (274). |
| 153006053 | c.1660dup | p.Arg554Profs*2 | exon 7 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153006054 | c.1661G>A | p.Arg554His | exon 7 | Pathogenic, identified in 71 ALD cases (28, 29, 32, 33, 49, 52, 58, 59, 60, 62, 64, 87, 88, 97, 100, 102, 107, 108, 111, 120, 132, 137, 145, 178, 191, 213, 235, 238, 266, 273, 276, 289, 294, 312) and a chimpanzee with ALD (270). No detectable (1% of controls (97)) ALDP in patient cells (32, 49, 58, 60, 97, 102). |
| 153006056 | c.1663G>A | p.Asp555Asn | exon 7 | Likely pathogenic, identified in a single ALD case (52). |
| 153006057 | c.1664A>G | p.Asp555Gly | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006059 | c.1666C>T | p.Gln556* | exon 7 | Pathogenic, identified in 2 ALD cases (58, 245). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153006060 | c.1667A>T | p.Gln556Leu | exon 7 | VUS, no clinical info provided (266). |
| 153006060 | c.1667A>G | p.Gln556Arg | exon 7 | Pathogenic, identified in 5 ALD cases (40, 59, 64, 132, 137). |
| 153006063 | c.1670T>C | p.Val557Ala | exon 7 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153006063 | c.1670T>G | p.Val557Gly | exon 7 | VUS, no clinical info provided (266). |
| 153006063 | c.1670_71del | p.Val557Aspfs*43 | exon 7 | Pathogenic, identified in 2 ALD cases (49, 266). Deleterious mutation. |
| 153006066 | c.1673T>C | p.Ile558Thr | exon 7 | Likely pathogenic, identified in a single ALD case (72). Normal ALDP level in patient cells (72). |
| 153006065 | c.1672A>T | p.Ile558Phe | exon 7 | VUS, no clinical info provided (266). |
| 153006068 | c.1675T>C | p.Tyr559His | exon 7 | Likely pathogenic, identified in a single ALD case (178). |
| 153006069 | c.1676A>G | p.Tyr559Cys | exon 7 | Pathogenic, identified in 4 ALD cases (32, 33). |
| 153006070 | c.1677C>A | p.Tyr559* | exon 7 | Pathogenic (same consequence as c.1677C>G), but no clinical info provided (266). Deleterious mutation. |
| 153006070 | c.1677C>G | p.Tyr559* | exon 7 | Pathogenic, identified in a single ALD case (122). Deleterious mutation. |
| 153006071 | c.1678C>G | p.Pro560Ala | exon 7 | Likely pathogenic, identified in a single ALD case (289). |
| 153006071 | c.1678C>T | p.Pro560Ser | exon 7 | Likely pathogenic, identified in a single ALD case (49). |
| 153006072 | c.1679C>T | p.Pro560Leu | exon 7 | Pathogenic, identified in 44 ALD cases (4, 7, 24, 32, 33, 49, 71, 86, 88, 90, 93, 96, 100, 108, 111, 136, 145, 158, 165, 263, 266, 288, 292, 315, 318). Affects ALDP stability in patient cells (7, 32, 33, 49). |
| 153006072 | c.1679C>G | p.Pro560Arg | exon 7 | Pathogenic, identified in a single ALD case (7). No detectable ALDP in patient cells (7). |
| 153006074 | c.1681G>T | p.Asp561Tyr | exon 7 | VUS, 2 ClinVar entries, but no clinical info provided (266). |
| 153006074 | c.1681G>A | p.Asp561Asn | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006075 | c.1682A>T | p.Asp561Val | exon 7 | Pathogenic, identified in 3 ALD cases (60). No detectable ALDP in patient cells (60). |
| 153006077 | c.1684T>C | p.Ser562Pro | exon 7 | VUS, identified 2x in ALD newborn screening (267, 274), but has not yet been associated with disease. |
| 153006083 | c.1690del | p.Glu564Argfs*72 | exon 7 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 153006087 | c.1694A>G | p.Asp565Gly | exon 7 | VUS, frequency 1/183118 in non-ALD alleles (323). |
| 153006088 | c.1695del | p.Asp565Glufs*71 | exon 7 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153006089 | c.1696A>G | p.Met566Val | exon 7 | VUS, identified 2x in ALD newborn screening (274, 290). Affects ALDP function in fibroblasts (290), but has not yet been associated with disease. |
| 153006090 | c.1697T>A | p.Met566Lys | exon 7 | Pathogenic, identified in 2 ALD cases (13). No detectable ALDP in patient cells (33). |
| 153006090 | c.1697T>C | p.Met566Thr | exon 7 | Pathogenic, identified in 2 ALD cases (58, 225). No detectable ALDP in patient cells (58). |
| 153006092 | c.1699C>T | p.Gln567* | exon 7 | Pathogenic, identified in 3 ALD cases (33, 60, 266). Deleterious mutation. |
| 153006093 | c.1700A>G | p.Gln567Arg | exon 7 | VUS, no clinical info provided (266). |
| 153006099 | c.1706A>G | p.Lys569Arg | exon 7 | Likely benign, based on demonstration of normal plasma VLCFA levels in plasma in a male (284) |
| 153006101 | c.1708_1709delGG | p.Gly570Leufs*30 | exon 7 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153006106 | c.1713C>G | p.Tyr571* | exon 7 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153006107 | c.1714T>C | p.Ser572Pro | exon 7 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153006107 | c.1714_25del | p.Ser572_Asp575del | exon 7 | Pathogenic, identified in 2 ALD cases (81, 104). |
| 153006108 | c.1715C>T | p.Ser572Leu | exon 7 | VUS, frequency 1/178412 in non-ALD alleles (323). |
| 153006108 | c.1715C>A | p.Ser572* | exon 7 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153006108 | c.1715C>G | p.Ser572Trp | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006110 | c.1717delG | p.Glu573Serfs*63 | exon 7 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153006113 | c.1720C>T | p.Gln574* | exon 7 | Pathogenic, identified in 3 ALD cases (53, 58, 289). Deleterious mutation. No detectable ALDP in patient cells (53, 58). |
| 153006119 | c.1726dup | p.Leu576Profs*25 | exon 7 | Pathogenic, identified in a single ALD case (120). Deleterious mutation. |
| 153006120 | c.1727T>C | p.Leu576Pro | exon 7 | Pathogenic, identified in 4 ALD cases (93, 98, 132, 137). |
| 153006122 | c.1729G>T | p.Glu577* | exon 7 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 153006124 | c.1731del | p.Ala578Profs*58 | exon 7 | Pathogenic, identified in a single ALD case (105). Deleterious mutation. |
| 153006125 | c.1732G>A | p.Ala578Thr | exon 7 | Likely benign, based on frequency 6/178388 in non-ALD alleles (323). |
| 153006129 | c.1736T>C | p.Ile579Thr | exon 7 | VUS, identified in ALD newborn screening (302), but has not yet been associated with disease. |
| 153006137 | c.1744G>A | p.Val582Ile | exon 7 | Likely benign, based on frequency of 10/154501 in non-ALD alleles (X-153006137-G-A). |
| 153006139 | c.1746del | p.Val583Cysfs*53 | exon 7 | Pathogenic, identified in 2 ALD cases (27, 158). Deleterious mutation. |
| 153006140 | c.1747G>C | p.Val583Leu | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006140 | c.1747G>A | p.Val583Met | exon 7 | VUS, identified 9x in ALD newborn screening (191, 274, 284, 297), but has not yet been associated with disease. |
| 153006140 | c.1747_1759del | p.Val583Thrfs*49 | exon 7 | Pathogenic, identified in a single ALD case (145). Deleterious mutation. |
| 153006141 | c.1748T>C | p.Val583Ala | exon 7 | Benign, based on its frequency of 26/169917 in non-ALD alleles (323). |
| 153006141 | c.1748T>A | p.Val583Glu | exon 7 | Identified in a single ALD case (231), but benign based on its frequency of 15/153962 in non-ALD alleles (323). |
| 153006141 | c.1748T>G | p.Val583Gly | exon 7 | Likely pathogenic, identified in a single ALD case (33). |
| 153006143 | c.1750C>T | p.His584Tyr | exon 7 | VUS, frequency 1/178270 in non-ALD alleles (323) |
| 153006146 | c.1753del | p.Leu585Cysfs*51 | exon 7 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153006147 | c.1754T>C | p.Leu585Pro | exon 7 | Likely pathogenic, identified in a single ALD case (68). |
| 153006148 | c.1755del | p.His586Thrfs*50 | exon 7 | Pathogenic, identified in a single ALD case (62). Deleterious mutation. |
| 153006150 | c.1757_1771dup | p.His586_Gln590dup | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006152 | c.1759_61dup | p.His587dup | exon 7 | Likely pathogenic, identified in a single ALD case (125). |
| 153006152 | c.1759_70del12 | p.His587_Gln590del | exon 7 | Pathogenic, identified in a single ALD case (24). |
| 153006158 | c.1765del | p.Leu589Cysfs*47 | exon 7 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. |
| 153006161 | c.1768C>T | p.Gln590* | exon 7 | Pathogenic, identified in 9 ALD cases (20, 88, 176, 266). Deleterious mutation. |
| 153006162 | c.1769A>T | p.Gln590Leu | exon 7 | VUS, frequency 2/178017 in non-ALD alleles (323). |
| 153006164 | c.1771del | p.Arg591Glyfs*45 | exon 7 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153006164 | c.1771C>T | p.Arg591Trp | exon 7 | Pathogenic, identified in 14 ALD cases (24, 32, 33, 53, 72, 161, 266, 274, 315, 316). Normal ALDP level in patient cells (53), but non-functional. |
| 153006165 | c.1772G>T | p.Arg591Leu | exon 7 | Pathogenic, identified in 3 ALD cases (88, 145). |
| 153006165 | c.1772G>C | p.Arg591Pro | exon 7 | Pathogenic, identified in 3 ALD cases (44, 49, 105). No detectable ALDP expression in patient cells (49). |
| 153006165 | c.1772G>A | p.Arg591Gln | exon 7 | Pathogenic, identified in 33 ALD cases (22, 32, 33, 78, 98, 108, 145, 175, 191, 238, 266, 274, 284, 294, 315). Normal ALDP level in patient cells (22, 33), but non-functional (33). |
| 153006173 | c.1780G>A | p.Gly594Ser | exon 7 | Pathogenic, identified in 5 ALD cases (277, 306). |
| 153006173 | c.1780G>C | p.Gly594Arg | exon 7 | Pathogenic, identified in 2 ALD cases (33, 83). |
| 153006174 | c.1780+1G>A | p.Trp595fs*? | IVS 7 | Pathogenic, identified in 2 ALD cases (7, 53). Deleterious mutation. |
| 153006175 | c.1780+2T>G | p.Trp595fs*? | IVS 7 | Pathogenic, identified in 11 ALD cases (33, 38, 58, 71, 118, 158, 214, 266, 277). No detectable ALDP in patient cells (58) due to splicing defect (118). |
| 153006177 | c.1780+4G>A | IVS 7 | Benign, based on its frequency of 41/199340 in non-ALD alleles (323). | |
| 153008436 | c.1781-5C>G | IVS 7 | Benign, based on its frequency of 14/170857 in non-ALD alleles (323). | |
| 153008439 | c.1781-2A>G | p.Trp595fs*? | IVS 7 | Pathogenic, identified in 3 ALD cases (32, 33). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153008440 | c.1781-1G>A | p.Trp595fs*? | IVS 7 | Likely pathogenic, identified in a single ALD case (96). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008440 | c.1781-1G>C | p.Trp595fs*? | IVS 7 | Likely pathogenic, identified in ALD newborn screening (303). Affects ALDP function in fibroblasts (303), but has not yet been associated with disease. |
| 153008440 | c.1781-1G>T | p.Trp595fs*? | IVS 7 | Likely pathogenic, identified in 2 ALD case (33, 266). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008441 | c.1781G>T | p.Gly594Val | exon 8 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 153008443 | c.1783T>C | p.Trp595Arg | exon 8 | Likely pathogenic, identified in a single ALD case (88). |
| 153008444 | c.1784G>A | p.Trp595* | exon 8 | Pathogenic, identified in 3 ALD cases (33, 90, 266). Deleterious mutation. |
| 153008445 | c.1785G>A | p.Trp595* | exon 8 | Pathogenic, identified in 5 ALD cases (24, 59, 64, 132, 232). Deleterious mutation. |
| 153008450 | c.1790C>G | p.Ala597Gly | exon 8 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153008451 | c.1791_92del | p.Met598Valfs*2 | exon 8 | Pathogenic, identified in a single ALD case (6). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153008452 | c.1792A>G | p.Met598Val | exon 8 | Likely benign, based on frequency 7/174488 in non-ALD alleles (323). |
| 153008454 | c.1794G>T | p.Met598Ile | exon 8 | Likely benign, based on frequency 6/180542 in non-ALD alleles. |
| 153008457 | c.1797dup | p.Asp600* | exon 8 | Pathogenic, identified in 2 ALD cases (219). Deleterious mutation. |
| 153008462 | c.1802G>A | p.Trp601* | exon 8 | Pathogenic, identified in 11 ALD cases (27, 33, 53, 79, 100, 154, 266, 324). Deleterious mutation. No detectable ALDP in patient cells (53). |
| 153008463 | c.1803del | p.Trp601* | exon 8 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 153008463 | c.1803G>A | p.Trp601* | exon 8 | Pathogenic, identified in 4 ALD cases (33, 77, 88, 231). Deleterious mutation. |
| 153008464 | c.1804A>T | p.Lys602* | exon 8 | Pathogenic, identified in a single ALD case (93). Deleterious mutation. |
| 153008467 | c.1807del | p.Asp603Thrfs*33 | exon 8 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153008470 | c.1810G>A | p.Val604Ile | exon 8 | Benign, based on frequency of 116/184498 in non-ALD alleles (323). |
| 153008471 | c.1811T>C | p.Val604Ala | exon 8 | VUS, identified in ALD newborn screening (312), but has not yet been associated with disease. |
| 153008473 | c.1813_1831del | p.Leu605Argfs*25 | exon 8 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153008474 | c.1814T>A | p.Leu605Gln | exon 8 | Pathogenic, identified in 4 ALD cases (59, 64, 132, 137). |
| 153008474 | c.1814T>C | p.Leu605Pro | exon 8 | Likely pathogenic, identified in a single ALD case (33) and 1x in ALD NBS (284). |
| 153008476 | c.1816T>C | p.Ser606Pro | exon 8 | Pathogenic, identified in 7 ALD cases (7, 33, 71, 72, 96, 100). No detectable ALDP in patient cells (7) and deficient beta-oxidation (261). |
| 153008476 | c.1816T>A | p.Ser606Thr | exon 8 | VUS, frequency 2/149800 in non-ALD alleles (323). |
| 153008476 | c.1816T>G | p.Ser606Ala | exon 8 | Likely pathogenic, identified in a single ALD case (32). |
| 153008477 | c.1817C>A | p.Ser606* | exon 8 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153008477 | c.1817C>T | p.Ser606Leu | exon 8 | Pathogenic, identified in 40 ALD cases (6, 13, 22, 24, 33, 46, 49, 52, 57, 58, 59, 60, 64, 97, 100, 132, 137, 178, 180, 204, 221, 266, 274, 284, 287, 289). Detectable ALDP by immunofluorescence (22, 33, 49, 60), but levels are reduced (25% of control cells) in patient cells (97) using a quantitative immunoblot technique. Mutation affects ATP-binding capacity of ALDP (194, 244) and deficient beta-oxidation (261). |
| 153008480 | c.1820del | p.Gly607Valfs*29 | exon 8 | Pathogenic, identified in a single ALD case (6). Deleterious mutation. No detectable ALDP in patient cells (6). |
| 153008480 | c.1820_23del | p.Gly607Alafs*28 | exon 8 | Pathogenic, identified in 2 ALD cases (33, 266). Deleterious mutation. |
| 153008480 | c.1820G>A | p.Gly607Asp | exon 8 | Pathogenic, identified in 4 ALD cases (52, 58, 274). Normal ALDP level in patient cells, but non-functional (58). Mutation affects protein-protein interaction (262). |
| 153008482 | c.1822G>A | p.Gly608Ser | exon 8 | Pathogenic, identified in 3 ALD cases (58, 62, 105). |
| 153008483 | c.1823G>C | p.Gly608Ala | exon 8 | VUS, no clinical info provided (266). |
| 153008483 | c.1823G>A | p.Gly608Asp | exon 8 | Likely pathogenic, identified in a single ALD case (48). |
| 153008485 | c.1825G>A | p.Glu609Lys | exon 8 | Pathogenic, identified in 40 ALD cases (15, 16, 32, 33, 49, 60, 62, 72, 88, 90, 97, 141, 146, 235, 266, 274, 306, 316). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (32, 49, 60, 72, 141, 146). |
| 153008486 | c.1826A>G | p.Glu609Gly | exon 8 | Pathogenic, identified in 4 ALD cases (16, 97, 141, 266). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (32, 49, 60, 72, 141, 146). |
| 153008488 | c.1828A>G | p.Lys610Glu | exon 8 | Likely pathogenic, identified 3x in ALD newborn screening (274, 290). Affects ALDP function in fibroblasts (290), but has not yet been associated with disease. |
| 153008491 | c.1831delC | p.Gln611Argfs*25 | exon 8 | Pathogenic, identified in a single ALD case (245). Deleterious mutation. |
| 153008492 | c.1832A>G | p.Gln611Arg | exon 8 | Pathogenic, identified in 2 ALD cases (315) and in ALD newborn screening (294). |
| 153008493 | c.1833G>C | p.Gln611His | exon 8 | Likely pathogenic, identified in a single ALD case (33). |
| 153008495 | c.1835del | p.Arg612Lysfs*24 | exon 8 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153008497 | c.1837A>G | p.Ile613Val | exon 8 | VUS, frequency 1/160638 in non-ALD alleles (323). |
| 153008498 | c.1838T>A | p.Ile613Asn | exon 8 | Likely pathogenic, identified in a single ALD case (33). |
| 153008503 | c.1843dup | p.Met615Asnfs*16 | exon 8 | Pathogenic, identified in a single ALD case (221). Deleterious mutation. |
| 153008500 | c.1840G>A | p.Gly614Ser | exon 8 | Likely benign, based on frequency 9/180754 in non-ALD alleles (323). |
| 153008500 | c.1840G>C | p.Gly614Arg | exon 8 | Likely pathogenic, identified in a single ALD case (88). |
| 153008506 | c.1846G>A | p.Ala616Thr | exon 8 | Pathogenic, identified in 14 ALD cases (32, 97, 141, 218, 245,290). Reduced ALDP in patient cells (290) (4% of control cells) using a quantitative immunoblot technique (97), no detectable ALDP by immunofluorescence (32, 141). |
| 153008507 | c.1847C>A | p.Ala616Asp | exon 8 | Likely pathogenic, identified in a single ALD case (90). |
| 153008507 | c.1847C>T | p.Ala616Val | exon 8 | Pathogenic, identified in 2 ALD cases (29, 251), confirmed by biochemical testing (251). |
| 153008509 | c.1849C>A | p.Arg617Ser | exon 8 | Pathogenic, identified in 2 ALD cases (92, 289). |
| 153008509 | c.1849C>G | p.Arg617Gly | exon 8 | Pathogenic, identified in 12 ALD cases (15, 33, 59, 64, 67, 86, 93, 132, 137, 289, 292). |
| 153008509 | c.1849C>T | p.Arg617Cys | exon 8 | Pathogenic, identified in 49 ALD cases (6, 15, 16, 32, 33, 49, 58, 59, 60, 64, 86, 88, 93, 132, 137, 145, 178, 33, 214, 220, 221, 239, 263, 266, 289, 292, 318). No detectable ALDP in patient cells (32, 49, 58). |
| 153008509 | c.1849del | p.Arg617Alafs*19 | exon 8 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153008510 | c.1850del | p.Arg617Profs*19 | exon 8 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153008510 | c.1850G>A | p.Arg617His | exon 8 | Pathogenic, identified in 62 ALD cases (6, 13, 17, 22, 32, 33, 49, 57, 58, 60, 62, 74, 87, 88, 96, 100, 125, 145, 147, 154, 178, 235, 245, 246, 250, 266, 274, 289, 303, 306, 315, 319). No detectable ALDP in patient cells (22, 33, 49, 58, 60, 147) and deficient beta-oxidation in patient cells (261). |
| 153008510 | c.1850G>C | p.Arg617Pro | exon 8 | Likely pathogenic, identified in a single ALD case (308). |
| 153008513 | c.1853del | p.Met618Serfs*18 | exon 8 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153008518 | c.1858T>C | p.Tyr620His | exon 8 | Pathogenic, identified in 2 ALD cases (88, 99). |
| 153008519 | c.1859del | p.Tyr620Serfs*16 | exon 8 | Pathogenic, identified in 2 ALD cases (80). Deleterious mutation. |
| 153008519 | c.1859A>G | p.Tyr620Cys | exon 8 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153008520 | c.1860C>G | p.Tyr620* | exon 8 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153008522 | c.1862A>T | p.His621Leu | exon 8 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008522 | c.1862dup | p.His621Glnfs*10 | exon 8 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153008525 | c.1865G>A | p.Arg622Lys | exon 8 | VUS, frequency 1/147093 in non-ALD alleles (323). |
| 153008525 | c.1865_1865+3delinsTGTTCT | p.Arg622Metfs*16 | exon 8 / IVS 8 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 153008526 | c.1865+1G>A | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 2 ALD cases (33, 152). Reduced (<1% of control cells) ALDP in patient cells due to splicing defect (152). |
| 153008660 | c.1866-15G>A | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 3 ALD cases (32). |
| 153008665 | c.1866-10G>A | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 35 ALD cases (11, 30, 32, 33, 58, 72, 100, 125, 145, 156, 178, 191, 235, 250, 274, 289, 290, 292). No detectable ALDP in patient cells (32, 58, 72) due to splicing defect (11, 30). |
| 153008670 | c.1866-5C>T | IVS 8 | VUS, frequency 1/171816 alleles (323). | |
| 153008673 | c.1866-2A>T | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 5 ALD cases (32, 250). No detectable ALDP in patient cells (32) due to splicing defect. |
| 153008675 | c.1866G>T | p.Arg622Ser | exon 8 | VUS, frequency 1/172281 in non-ALD alleles (323). |
| 153008676 | c.1867C>A | p.Pro623Thr | exon 9 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008677 | c.1868C>T | p.Pro623Leu | exon 9 | Likely pathogenic, identified in a single ALD case (100). |
| 153008679 | c.1870A>G | p.Lys624Glu | exon 9 | VUS, frequency 2/173670 in non-ALD alleles (323). |
| 153008684 | c.1875C>A | p.Tyr625* | exon 9 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153008685 | c.1876G>A | p.Ala626Thr | exon 9 | Pathogenic, identified in 26 ALD cases (22, 33, 49, 145, 196, 220, 259, 266, 274, 284, 295, 319). No detectable ALDP in patient cells (22, 33, 49, 234) and deficient beta-oxidation in patient cells (259). |
| 153008685 | c.[1876G>A; 2087A>T] | p.[Ala626Thr; Lys696Met] | exon 9 + exon 10 | Pathogenic, identified in a single ALD case (32). p.Ala626Thr is pathogenic; p.Lys696Met is a VUS (X:153009038 A/T). |
| 153008685 | c.1876G>T | p.Ala626Ser | exon 9 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008686 | c.1877C>A | p.Ala626Asp | exon 9 | Likely pathogenic, identified in a single ALD case (49). |
| 153008689 | c.1880T>C | p.Leu627Pro | exon 9 | VUS, 2 ClinVar entries, but no clinical info provided (266). |
| 153008689 | c.1880T>A | p.Leu627His | exon 9 | Likely pathogenic, identified in a single ALD case (32). |
| 153008689 | c.1880dup | p.Leu628Profs*3 | exon 9 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153008692 | c.1883T>A | p.Leu628Gln | exon 9 | Likely pathogenic, identified in a single ALD case (100). |
| 153008692 | c.1883T>C | p.Leu628Pro | exon 9 | Pathogenic, identified in 3 ALD cases (33, 60). No detectable ALDP in patient cells (60). |
| 153008694 | c.1885G>A | p.Asp629Asn | exon 9 | Pathogenic, identified in 3 ALD cases (145, 165, 263). |
| 153008694 | c.1885G>C | p.Asp629His | exon 9 | Pathogenic, identified in a single ALD case (22). Normal ALDP level in patient cells (22), but non-functional. |
| 153008694 | c.1885G>T | p.Asp629Tyr | exon 9 | Likely pathogenic, identified in a single ALD case (289). |
| 153008695 | c.1886A>T | p.Asp629Val | exon 9 | VUS, no clinical info provided (266). |
| 153008696 | c.1887T>G | p.Asp629Glu | exon 9 | Likely pathogenic, identified in 2 ALD cases (254) |
| 153008697 | c.1888G>A | p.Glu630Lys | exon 9 | Pathogenic, identified in 2 ALD cases (33, 228). |
| 153008698 | c.1889A>G | p.Glu630Gly | exon 9 | Likely pathogenic, identified in a single ALD case (49). |
| 153008700 | c.1891T>C | p.Cys631Arg | exon 9 | Pathogenic, identified in 4 ALD cases (32, 33, 60). No detectable ALDP in patient cells (60). |
| 153008701 | c.1892G>A | p.Cys631Tyr | exon 9 | Pathogenic, identified in 7 ALD cases (33, 49, 76, 93, 266, 319). |
| 153008702 | c.1893C>G | p.Cys631Trp | exon 9 | Likely pathogenic, identified in a single ALD case (33). |
| 153008703 | c.1894A>C | p.Thr632Pro | exon 9 | Pathogenic, identified in 5 ALD cases (33, 96, 100, 120). |
| 153008704 | c.1895C>T | p.Thr632Ile | exon 9 | Pathogenic, identified in 14 ALD cases (33, 49, 147, 238, 266), confirmed by extensive pedigree analysis (147). |
| 153008707 | c.1898G>T | p.Ser633Ile | exon 9 | Likely pathogenic, identified in a single ALD case (48). |
| 153008708 | c.1899C>G | p.Ser633Arg | exon 9 | Pathogenic (same consequence as c.1899C>A), 2 ClinVar entries, but no clinical info provided (266). |
| 153008708 | c.1899delC | p.Ser633Argfs*3 | exon 9 | Pathogenic, identified in 7 ALD cases (32, 141, 250). Deleterious mutation. No detectable ALDP in patient cells (141, 290). |
| 153008708 | c.1899C>A | p.Ser633Arg | exon 9 | Pathogenic, identified in 3 ALD cases (29, 96, 266). |
| 153008709 | c.1900G>T | p.Ala634Ser | exon 9 | VUS, frequency 1/175222 in non-ALD alleles (323). |
| 153008709 | c.1900G>A | p.Ala634Thr | exon 9 | VUS, identified 6 times in ALD newborn screening (274, 284, 290, 295). Variant affects ALDP function in fibroblasts (290), but has not yet been associated with disease. |
| 153008712 | c.1903G>A | p.Val635Met | exon 9 | Pathogenic, identified in 2 ALD cases (49, 58) and 5x in ALD newborn screening (274, 284). Affects ALDP stability in patient cells (32, 58). |
| 153008712 | c.1903_04insCCA | p.Val635delinsAlaMet | exon 9 | Pathogenic, identified in 2 ALD cases (72, 145). Affects ALDP stability in patient cells (72). |
| 153008715 | c.1906delA | p.Ser636Alafs*55 | exon 9 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153008716 | c.1907_25del | p.Ser636Argfs*49 | exon 9 | Pathogenic, identified in 3 ALD cases (32). Deleterious mutation. |
| 153008716 | c.1907G>T | p.Ser636Ile | exon 9 | Pathogenic, identified in 3 ALD cases (27, 42, 266). No detectable ALDP in patient cells (42). |
| 153008718 | c.1909del | p.Ile637Serfs*54 | exon 9 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153008718 | c.1909A>G | p.Ile637Val | exon 9 | VUS, frequency 2/173852 in non-ALD alleles (323). |
| 153008720 | c.1911_1920del | p.Ile637Metfs*51 | exon 9 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153008721 | c.1912G>T | p.Asp638Tyr | exon 9 | Pathogenic, identified in 3 ALD cases (38). |
| 153008724 | c.1915G>A | p.Val639Met | exon 9 | VUS, identified 2x in ALD newborn screening (274, 312) and reported 2x in the gnomAD database (323) frequency 2/172203 in non-ALD alleles, but has not yet been associated with disease. |
| 153008727 | c.1918G>A | p.Glu640Lys | exon 9 | Pathogenic, identified in 5 ALD cases (33, 96, 235). |
| 153008728 | c.1919A>G | p.Glu640Gly | exon 9 | VUS, no clinical info provided (266). |
| 153008735 | c.1926G>T | p.Lys642Asn | exon 8 | VUS, frequency 1/167189 in non-ALD alleles (323). |
| 153008735 | c.1926_27insCAAG | p.Ile643Glnfs*92 | exon 9 | Pathogenic, identified in a single ALD case (32). Deleterious mutation. |
| 153008737 | c.1928T>A | p.Ile643Asn | exon 9 | VUS, identified in ALD newborn screening (302), but has not yet been associated with disease. |
| 153008737 | c.1928T>C | p.Ile643Thr | exon 9 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008741 | c.1932C>A | p.Phe644Leu | exon 9 | VUS, identified in ALD newborn screening (312), but has not yet been associated with disease. |
| 153008742 | c.1933C>T | p.Gln645* | exon 9 | Pathogenic, identified in 3 ALD cases (22, 33). Deleterious mutation. No detectable ALDP in patient cells (22, 33). |
| 153008742 | c.1933del | p.Gln645Argfs*46 | exon 9 | Pathogenic, identified in 4 ALD cases (189, 266, 306). Deleterious mutation. |
| 153008745 | c.1936G>C | p.Ala646Pro | exon 9 | Pathogenic, identified in 2 ALD cases (29, 33). |
| 153008746 | c.1937C>T | p.Ala646Val | exon 9 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008748 | c.1939_40insGG | p.Ala647Glyfs*45 | exon 9 | Pathogenic, identified in 4 ALD cases (71, 72). Deleterious mutation. No detectable ALDP in patient cells (72). |
| 153008751 | c.1942A>T | p.Lys648* | exon 9 | Pathogenic, identified in a single ALD case (84). Deleterious mutation. |
| 153008757 | c.1948_49del | p.Ala650Glyfs*83 | exon 9 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP in patient cells (7). |
| 153008758 | c.1949C>T | p.Ala650Val | exon 9 | VUS, 4 ClinVar entries, but no clinical info provided (266). |
| 153008770 | c.1961T>G | p.Leu654Arg | exon 9 | Likely pathogenic, identified in a single ALD case (33). |
| 153008770 | c.1961T>C | p.Leu654Pro | exon 9 | Pathogenic, identified in 20 ALD cases (32, 49, 62, 97, 139, 141, 266, 290). Reduced ALDP in patient cells (290), (2% of control cells) ALDP in patient cells using a quantitative immunoblot technique (97), no detectable ALDP by immunofluorescence (32, 49, 139, 141). |
| 153008773 | c.1964T>C | p.Leu655Pro | exon 9 | Pathogenic, identified in a single ALD case (53). Affects ALDP stability in patient cells (53). |
| 153008775 | c.1966_1967dup | p.Ile657Profs*35 | exon 9 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153008776 | c.1967C>T | p.Ser656Phe | exon 9 | Likely pathogenic, identified in a single ALD case (33). |
| 153008779 | c.1970T>C | Ile657Thr | exon 9 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008779 | c.1970_72del | p.Ile657del | exon 9 | Pathogenic, identified in 13 ALD cases (16, 32, 33, 111, 141, 185, 290). No detectable ALDP in patient cells (32, 141, 290). |
| 153008782 | c.1973C>T | p.Thr658Ile | exon 9 | Pathogenic, identified in 5 ALD cases (33, 58, 243, 284, 289). No detectable ALDP in patient cells (58). |
| 153008787 | c.1978C>T | p.Arg660Trp | exon 9 | Pathogenic, identified in 65 ALD cases (7, 13, 16, 22, 23, 24, 32, 33, 49, 53, 57, 58, 60, 88, 90, 97, 135, 141, 145, 146, 190, 191, 200, 218, 235, 243, 266, 277, 284, 292, 294, 306). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (7, 22, 23, 32, 33, 49, 53, 58, 141, 146). Mutation affects protein half-life (260) |
| 153008788 | c.1979G>A | p.Arg660Gln | exon 9 | Conflicting results. Reported as pathogenic (3 ALD cases) (71, 72) with no detectable ALDP in patient cells (72). But, an independent functional study in fibroblasts showed normal ALDP and normal biochemistry (290) and normal plasma VLCFA (290). |
| 153008788 | c.1979G>T | p.Arg660Leu | exon 9 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008788 | c.1979G>C | p.Arg660Pro | exon 9 | Pathogenic, identified in 2 ALD cases (48, 289). |
| 153008791 | c.1982_83del | p.Pro661Leufs*72 | exon 9 | Pathogenic, identified in 2 ALD cases (32). Deleterious mutation. |
| 153008797 | c.1988T>A | p.Leu663Gln | exon 9 | Pathogenic, identified in 2 ALD cases (32, 58). Affects ALDP stability in patient cells (32, 58). |
| 153008797 | c.1988T>C | p.Leu663Pro | exon 9 | VUS, identified in ALD newborn screening (284) and 2 ClinVar entries (266), but has not yet been associated with disease. |
| 153008797 | c.1988_89insT | p.Trp664Valfs*70 | exon 9 | Pathogenic, identified in 2 ALD cases (33, 49). Deleterious mutation. No detectable ALDP in patient cells (33). |
| 153008800 | c.1991G>A | p.Trp664* | exon 9 | Pathogenic, identified in a single ALD case (248). Deleterious mutation. |
| 153008800 | c.1991_1991+13del | p.Trp664* | exon 9 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153008801 | c.1991+1G>A | p.Lys665fs*? | IVS 9 | Likely pathogenic, identified in a single ALD case (49). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008802 | c.1991+2T>C | p.Lys665fs*? | IVS 9 | Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008807 | c.1991+7G>A | IVS 9 | Likely benign, based on frequency 6/135338 in non-ALD alleles (323). | |
| 153008941 | c.1992-2A>G | p.Lys665fs*? | IVS 9 | Pathogenic, identified in 8 ALD cases (32, 199, 266, 274). Deleterious mutation. |
| 153008942 | c.1992-1G>A | p.Lys665fs*? | IVS 9 | Likely pathogenic, identified in a single ALD case (49). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008943 | c.1992G>A | p.Trp664* | exon 10 | Pathogenic, identified in 2 ALD cases (98, 252). Deleterious mutation. |
| 153008944 | c.1993_95delinsGAG | p.Lys665delinsGlu | exon 10 | Pathogenic, identified in a single ALD case (72). Affects ALDP stability in patient cells (72). |
| 153008945 | c.1994A>C | p.Lys665Thr | exon 10 | VUS, frequency 1/169001 in non-ALD alleles (323). |
| 153008948 | c.[1997A>C;2007C>G] | p.[Tyr666Ser;His669Gln] | exon 10 | VUS, identified in a single ALD case (62). Unclear which of the two variants is pathogenic. |
| 153008949 | c.1998C>G | p.Tyr666* | exon 10 | Pathogenic, identified in 2 ALD cases (33, 289). Deleterious mutation. |
| 153008949 | c.1998C>A | p.Tyr666* | exon 10 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153008949 | c.1998_1999insGC | p.His667Alafs*25 | exon 10 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153008950 | c.1999C>G | p.His667Asp | exon 10 | Pathogenic, identified in 5 ALD cases (49, 62, 90, 97). Reduced (3% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (49). Mutation affects targeting to peroxisomes (261). |
| 153008950 | c.1999C>A | p.His667Asn | exon 10 | Likely pathogenic, identified in a single ALD case (232). |
| 153008950 | c.1999_2000delCA | p.His669Leufs*64 | exon 10 | Pathogenic, identified in a single ALD case (29). Deleterious mutation. |
| 153008951 | c.2000A>G | p.His667Arg | exon 10 | Likely pathogenic, identified in a single ALD case (33). |
| 153008951 | c.2000A>T | p.His667Leu | exon 10 | Pathogenic, identified in a single ALD case (53). Affects ALDP stability in patient cells (53). |
| 153008953 | c.[2002A>G;1021G>T] | p.[Thr668Ala;Ala341Ser] | exon 10 | Likely pathogenic, identified in a single ALD case (258). p.Ala341Ser is a likely benign variant (see above). |
| 153008953 | c.2002A>C | p.Thr668Pro | exon 10 | Pathogenic, identified in 10 ALD cases (33, 212, 266). |
| 153008954 | c.2003C>T | p.Thr668Ile | exon 10 | Pathogenic, identified in 3 ALD cases (33, 49, 266). No detectable ALDP in patient cells (49). |
| 153008956 | c.2005C>T | p.His669Tyr | exon 10 | Likely pathogenic, identified in a single ALD case (233). |
| 153008957 | c.2006_07del | p.His669Leufs*64 | exon 10 | Pathogenic, identified in 2 ALD cases (33, 274). Deleterious mutation. |
| 153008957 | c.2006A>T | p.His669Leu | exon 10 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008957 | c.2006A>G | p.His669Arg | exon 10 | Pathogenic, identified in 11 ALD cases (33, 58, 104, 135, 145, 228, 266, 274, 297). No detectable ALDP in patient cells (58). |
| 153008957 | c.2006_2007dup | p.Leu670Thrfs*22 | exon 10 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 153008958 | c.[2007C>G;1997A>C] | p.[His669Gln;Tyr666Ser] | exon 10 | VUS, identified in a single ALD case (62). Unclear which of the two variants is pathogenic. |
| 153008961 | c.2010_11insT | p.Leu671Serfs*63 | exon 10 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153008961 | c.2010_2014delinsTAT | p.Leu670Phefs*63 | exon 10 | Pathogenic, identified in 4 ALD cases (87, 272). Deleterious mutation. |
| 153008961 | c.2010dupG | p.Leu671Alafs*63 | exon 10 | Pathogenic, identified in 2 ALD cases (181, 306). Deleterious mutation. |
| 153008962 | c.2011C>A | p.Leu671Ile | exon 10 | VUS, identified 3x in ALD newborn screening (274, 284), but has not yet been associated with disease. |
| 153008962 | c.2011C>G | p.Leu671Val | exon 10 | VUS, identified 2x in ALD newborn screening (284), but has not yet been associated with disease. |
| 153008963 | c.2012T>C | p.Leu671Pro | exon 10 | Likely pathogenic, identified in a single ALD case (255). |
| 153008964 | c.2013dup | p.Gln672Thrfs*62 | exon 10 | Pathogenic, identified in a single ALD case (271). Deleterious mutation. |
| 153008965 | c.2014C>T | p.Gln672* | exon 10 | Pathogenic, identified in 7 ALD cases (25, 27, 28, 33, 87, 88, 274). Deleterious mutation. No detectable ALDP in patient cells (25). |
| 153008970 | c.2019C>G | p.Phe673Leu | exon 10 | VUS, frequency 2/167711 in non-ALD alleles (323). |
| 153008971 | c.2020G>A | p.Asp674Asn | exon 10 | VUS, frequency 2/189574 in non-ALD alleles (323). |
| 153008974 | c.2023G>T | p.Gly675Trp | exon 10 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008977 | c.2026G>T | p.Glu676* | exon 10 | Pathogenic, identified in 2 ALD cases (33). Deleterious mutation. |
| 153008981 | c.2030G>A | p.Gly677Asp | exon 10 | Pathogenic, identified in 2 ALD cases (96, 306). |
| 153008983 | c.2032G>A | p.Gly678Ser | exon 10 | Likely benign, based on frequency 7/187720 in non-ALD alleles (323). |
| 153008983 | c.2032G>T | p.Gly678Cys | exon 10 | Benign, confirmed by biochemical testing (210). |
| 153008984 | c.2033G>A | p.Gly678Asp | exon 10 | VUS, frequency 1/164976 in non-ALD alleles (323). |
| 153008986 | c.2035T>C | p.Trp679Arg | exon 10 | Pathogenic, identified in 3 ALD cases (14, 88). |
| 153008986 | c.2035T>A | p.Trp679Arg | exon 10 | Pathogenic (same consequence as c.2035T>C), but no clinical info provided (266). |
| 153008987 | c.2036G>A | p.Trp679* | exon 10 | Pathogenic, identified in a single ALD case (84). Deleterious mutation. |
| 153008988 | c.2037G>A | p.Trp679* | exon 10 | Pathogenic, identified in 9 ALD cases (32, 33, 100, 154, 225, 266, 274). Deleterious mutation. |
| 153008994 | c.2043C>G | p.Phe681Leu | exon 10 | Benign, based on frequency of 27/185802 in non-ALD alleles (323). |
| 153008995 | c.2044G>C | p.Glu682Gln | exon 10 | Benign, based on frequency of 13/185410 in non-ALD alleles (323). |
| 153009002 | c.2051T>C | p.Leu684Pro | exon 10 | Pathogenic, identified in 2 ALD cases (33, 225, 301). |
| 153009002 | c.2051T>A | p.Leu684Gln | exon 10 | Likely pathogenic, identified in a single ALD case (32). Affects ALDP function in fibroblasts (32). |
| 153009012 | c.2061_2200del | p.Leu690Profs*65 | exon 10 | Pathogenic, identified in a single ALD case (32). Deleterious mutation. |
| 153009016 | c.2065C>T | p.Arg689Cys | exon 10 | Benign, based on frequency of 12/180200 in non-ALD alleles (323). |
| 153009029 | c.2078C>T | p.Thr693Met | exon 10 | Likely pathogenic, identified in a single ALD case (49). Normal ALDP level in patient cells (49), but reduced beta-oxidation. |
| 153009038 | c.2087A>T | p.Lys696Met | exon 10 | Likely benign, based on frequency 7/155054 in non-ALD alleles (323). |
| 153009040 | c.2089C>A | p.Gln697Lys | exon 10 | Likely benign, based on frequency 4/153461 in non-ALD alleles (323). |
| 153009041 | c.2090A>G | p.Gln697Arg | exon 10 | VUS, frequency 3/151878 in non-ALD alleles (323). |
| 153009044 | c.2093G>A | p.Arg698Gln | exon 10 | VUS, frequency 2/151389 in non-ALD alleles (323). |
| 153009054 | c.2103G>C | p.Gln701His | exon 10 | VUS, frequency 1/147575 in non-ALD alleles (323). |
| 153009062 | c.2111C>T | p.Ala704Val | exon 10 | VUS, identified in ALD newborn screening (274) and reported 1x in the gnomAD database (323) frequency 1/144261 in non-ALD alleles, but has not yet been associated with disease. |
| 153009074 | c.2123A>G | p.Lys708Arg | exon 10 | VUS, frequency 1/21714 in non-ALD alleles (323). |
| 153009078 | c.2127G>A | p.Met709Ile | exon 10 | VUS, frequency 2/140527 in non-ALD alleles (323). |
| 153009083 | c.2132G>A | p.Arg711Gln | exon 10 | Likely benign based on frequency 4/136265 in non-ALD alleles (323). |
| 153009085 | c.2134C>T | p.Arg712Cys | exon 10 | VUS, identified 4x in ALD newborn screening (274, 290) and reported 1x in the gnomAD database (323) frequency 1/136350 in non-ALD alleles. Functional studies in fibroblasts are inconclusive (290), but has not yet been associated with disease. |
| 153009086 | c.2135G>A | p.Arg712His | exon 10 | VUS, identified 2x in ALD newborn screening (274, 294), but has not yet been associated with disease. |
| 153009086 | c.2135G>C | p.Arg712Pro | exon 10 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153009089 | c.2138T>C | p.Leu713Pro | exon 10 | VUS, frequency 1/130825 in non-ALD alleles (323). |
| 153009094 | c.2143G>A | p.Glu715Lys | exon 10 | VUS, frequency 1/21236 in non-ALD alleles (323). |
| 153009109 | c.2158C>G | p.Leu720Val | exon 10 | VUS, frequency 1/126951 in non-ALD alleles (323). |
| 153009110 | c.2159T>C | p.Leu720Pro | exon 10 | VUS, frequency 3/127084 in non-ALD alleles (323). |
| 153009115 | c.2164G>A | p.Glu722Lys | exon 10 | VUS, frequency 1/122832 in non-ALD alleles (323). |
| 153009121 | c.2170G>A | p.Val724Met | exon 10 | VUS, frequency 2/120251 in non-ALD alleles (323). |
| 153009121 | c.2170G>T | p.Val724Leu | exon 10 | VUS, frequency 1/120251 in non-ALD alleles (323). |
| 153009124 | c.2173G>A | p.Ala725Thr | exon 10 | Likely benign, based onfrequency 5/119458 in non-ALD alleles (323). |
| 153009131 | c.2180C>A | p.Ala727Glu | exon 10 | VUS, frequency 3/117251 in non-ALD alleles (323). |
| 153009131 | c.2180C>G | p.Ala727Gly | exon 10 | VUS, frequency 1/117251 in non-ALD alleles (323). |
| 153009131 | c.2180C>T | p.Ala727Val | exon 10 | VUS, frequency 1/117251 in non-ALD alleles (323). |
| 153009136 | c.2185G>A | p.Val729Met | exon 10 | VUS, frequency 1/116385 in non-ALD alleles (323). |
| 153009140 | c.2189C>G | p.Pro730Arg | exon 10 | Likely benign, based onfrequency 4/135216 in non-ALD alleles (323). |
| 153009140 | c.2189C>T | p.Pro730Leu | exon 10 | VUS, frequency 1/114064 in non-ALD alleles (323). |
| 153009152 | c.2201C>G | p.Pro734Arg | exon 10 | VUS, frequency 3/127737 in non-ALD alleles (323). |
| 153009152 | c.2201C>T | p.Pro734Leu | exon 10 | Likely benign, based on frequency 10/132619 in non-ALD alleles (323). |
| 153009160 | c.2209C>T | p.Pro737Ser | exon 10 | VUS, frequency 1/20978 in non-ALD alleles (323). |
| 153009163 | c.2212G>C | p.Gly738Arg | exon 10 | VUS, frequency 1/108974 in non-ALD alleles (323). |
| 153009173 | c.2222A>G | p.Gln741Arg | exon 10 | VUS, frequency 1/107582 in non-ALD alleles (323). |
| 153009176 | c.2225G>T | p.Gly742Val | exon 10 | VUS, frequency 1/107582 in non-ALD alleles (323). |
| 153009184 | c.2233A>C | p.Thr745Pro | exon 10 | Likely benign, based on frequency 7/103576 in non-ALD alleles (323). |
| 153009190 | c.2238*1C>T | 3′ UTR | VUS, frequency 1/105396 in non-ALD alleles (323). | |
| 153009192 | c.2240*3C>A | 3′ UTR | VUS, frequency 1/104766 in non-ALD alleles (323). | |
| 153009196 | c.2238*7C>T | 3′ UTR | VUS, frequency 2/104951 in non-ALD alleles (323). | |
| 153009197 | c.2238*8G>C | 3′ UTR | Benign, based on its frequency of 81685/120445 in non-ALD alleles (323). |
Legend: Variants are arranged according to their nucleotide position on the X-chromosome. All variants, including those that have been published in the past, are annotated using Alamut software. The transcript NM_000033.3 on GRCh37 (hg19) is used as the reference sequence. The number of clinically/biochemically affected ALD cases that have been reported/identified for each variants is indicated. In case additional experimental proof with respect to the effect of the variant on the ALD protein (ALDP) or mRNA splicing is available references are provided. Note: unpublished variants (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified these variants.
Because ABCD1 pathogenic variants have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided. Instead we report cases. An ALD case is defined as an individual with clinical signs and symptoms related to ALD and a biochemical or genetic confirmation. Where available in the scientific literature, experimental data were extracted supporting the pathogenicity of a particular variant.
References
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Last modified | 2023-09-13