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.

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190 Smith et al. (2017) Pract Neurol. pii: practneurol-2017-001718. and personal communication Dr. Misra
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200 Weill Cornell Leukodystrophy Clinic/NY-Presbyterian Hospital. Contact person: Dr. Eric Mallack (ejm9009@med.cornell.edu). Unpublished data
201 Qui et al. (2018) Neurodegener Dis. 2:1-9.
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209 Foschi et al. (2019) Front Neurol. 10:70.
210 The variant p.Gly678Cys was identified in a whole exome sequencing analysis. Biochemical testing revealed normal VLCFA and C26:0-lysoPC. Personal communication Dr. Marielle Alders & Dr. Marc Engelen, Amsterdam University Medical Centers, Amsterdam, The Netherlands
211 Yeon et al. (2019) Stem Cell Res. 36:101425.
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265 Schwab et al (2020) Clin Pediatr Endocrinol 19(1):15-8.
266 Data obtained from ClinVar
267 Reports and information provided to us by families
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282 Yada et al (2021) Mol Genet Metab Rep 28:100778
283 Kim et al (2021) Ann Clin Neurophysiol 23:61-64.
284 University of Minnesota Medical Center. Contact person: Dr Troy Lund. Unpublished data.
285 Trinh The et al (2021) Appl Clin Genet 14:313-319.
286 Zhang et al (2021) Psychiatr Genet 31(5):162-167.
287 Fadiga et al (2021) Hormones 21(1):33-40.
288 Hsu et al (2021) Parkinsonism Relat Disord 92:7-12.
289 Liu et al (2021) Mol Genet Genomic Med:e1844.
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291 Amsterdam University Medical Centers. Contact person: Dr Stephan Kemp. Unpublished data.
292 Mao et al (2022) Neurol Sci (Online ahead of print).
293 Ghori et al (2022) Cureus 14(2):e21837.
294 Priestley et al (2022) Int. J. Neonatal Screen. 8:24.
295 Burton et al (2022) Int J Neonatal Screen 8:6.
296 Missouri newborn screening program. Unpublished data
297 Baker et al (2022) Int J Neonatal Screen 8:29.
298 University of Utah, Brain and Spine Center, Primary Children’s Hospital, Salt Lake City (US). Contact person: Dr. Joshua Bonkowsky. Unpublished data
299 Italy regional ALD newborn screening pilot (Lombardy) and ALD diagnostics. Buzzi Children’s Hospital, Milano (Italy). Contact person: Dr. Davide Tonduti. Unpublished data
300 Li et al. Exp Ther Med. 2022 Jul 12;24(3):565
301 Gupta et al BMJ Case Rep. 2022 Aug 10;15(8):e249905.
302 Chen et al Mol Genet Metab Rep. 2022 Jul 28;32:100902
303 Albersen et al J Inherit Metab Dis. 2022 Oct 18. doi: 10.1002/jimd.12571.
304 Choi et al Front Neurol. 2022 Nov 9;13:999419
305 Sehrawat et al Neurology. 2022 Sep 30:10.1212/WNL.0000000000201437.
306 University of Leipzig Medical Center, Leipzig, Germany. Contact person: Dr. Caroline Bergner. Unpublished data
307 Moser Center for Leukodystrophies, Kennedy Krieger Institute. Contact person: Dr. Julie Cohen. Unpublished data
308 Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Israel. Contact person: Dr. Ayelet Zerem. Unpublished data
309 Connecticut newborn screening program, Connecticut Department of Public Health, Katherine A. Kelley Public Health Laboratory. Contact person: Dr. Adrienne Manning. Unpublished data
310 Zheng et al J Clin Med. 2023 Jan 6;12(2):473.
311 He et al Front Neurol. 2023 Feb 28;14:1126729
312 Taiwan newborn screening program. National Taiwan University Hospital, Taipei (Taiwan). Contact person: Dr. Yin-Hsiu Chien. Unpublished data
313 Chang et al F S Rep. 2022 Dec 23;4(1):24-28.
314 Dohr et al Int J Mol Sci. 2023 Mar 22;24(6):5957.
315 Turk et al Ann Neurol. 2018 Sep;84(3):452-462.
316 Moroni et al J Hum Nutr Diet. 2023 Mar 29. doi: 10.1111/jhn.13173.
317 Obara et al Cureus. 2023 Apr 17;15(4):e37669
318 Jiang et al Acta Neurol Belg. 2023 May 29. doi: 10.1007/s13760-023-02295-x
319 Zhu et al Orphanet J Rare Dis. 2023 May 2;18(1):102.
320 Nicklaus Children’s Hospital, Miami Florida. Contact person: Dr. Parul Jayakar Unpublished data
321 University of South Florida, Tampa Florida. Contact Persons: Dr. Christopher Griffith and Melissa Racobaldo, CGC Unpublished data
322 Takegami et al Intern Med. 2023 Aug 9. doi: 10.2169/internalmedicine.2240-23.
322 gnomAD (Genome Aggregation Database), ABCD1 gene variants
324 Ghosh et al Neurol Perspect. 2023 Apr-Jun;3(2):100124.

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Last modified | 2023-09-13