The ABCD1 Variant Database

The ABCD1 Variant Database reports all variants according to the nomenclature recommended by the Human Genome Variation Society. All variants, including those published in the past, are annotated using AlamutVisualPlus software. The reference sequence is the NM_000033.3 transcript on GRCh37 (hg19). 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 on pathogenicity. If you use the ABCD1 Variant Database as a reference guide, please share ABCD1 variants and/or pathogenicity updates with the ABCD1 Variant Database. This will help us to provide continuous updates. Your contribution will be acknowledged.
Since ABCD1 pathogenic variants have no predictive value for the clinical outcome of an individual patient, no phenotypic information is provided. Instead, we report cases. An ALD case is defined as an individual diagnosed with clinical signs and symptoms associated with ALD (adrenal disease, myeloneuropathy, and/or cerebral ALD) with biochemical and genetic confirmation. Where available in the scientific literature, experimental data supporting the pathogenicity of a particular variant were extracted.

Chromosome position Variant Consequence Exon Remark
152990663 c.-59C>T 5′ UTR Benign, based on frequency of 11/150 (48) and 118367/1049925 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).
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 Benign, based on frequency 43/1129835 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 26 ALD cases (32, 102, 139, 141, 218, 245, 266). No detectable ALDP in patient cells (102, 139, 141, 290).
152990722 c.1A>T p.Met1Val
(no translation initiation)
exon 1 Pathogenic, identified in a single ALD case (160), same consequence as pathogenic variant c.1A>G.
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.3_19dup p.Pro7Argfs*15 exon 1 Pathogenic, identified in a single ALD case (332). Deleterious mutation.
152990724 c.3G>A p.Met1Ile
(no translation initiation)
exon 1 Pathogenic, identified in 2 ALD cases (33, 325).
152990724 c.3G>C p.Met1Ile
(no translation initiation)
exon 1 Pathogenic, identified in a single ALD case (73), same consequence as pathogenic variant c.3G>C.
152990724 c.3G>T p.Met1Ile
(no translation initiation)
exon 1 Pathogenic, identified in ALD newborn screening (274), same consequence as pathogenic variant c.3G>C.
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.
152990742 c.21_64del p.Arg8Glyfs*172 exon 1 Pathogenic, identified in ALD newborn screening (274). Deleterious mutation.
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 Benign, based on frequency 36/1145591 in non-ALD alleles (323).
152990752 c.31C>G p.Arg11Gly exon 1 Likely benign, based on frequency 11/503193 in non-ALD alleles (323).
152990752 c.31_46del p.Arg11Serfs*52 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
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 based on frequency 3023/1146578 in non-ALD alleles (323), confirmed by biochemical testing (48).
152990761 c.40A>G p.Thr14Ala exon 1 Benign, based on frequency 57/1147099 in non-ALD alleles (323).
152990762 c.41C>G p.Thr14Arg exon 1 Benign, based on 711/1148054 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.
152990771 c.50G>A p.Arg17His exon 1 Benign, based on 135/1149123 in non-ALD alleles (323), 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>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, based on 13/1151029 in non-ALD alleles (323) and 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.
152990802 c.81T>G p.Tyr27* exon 1 Pathogenic, identified in a single ALD case (332). Deleterious mutation.
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, based on frequency 13/396907 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.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.97T>G p.Tyr33Asp Exon 1 VUS, identified in ALD newborn screening (334), but has not yet been associated with disease.
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 Benign, based on frequency 106/1149102 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).
152990831 c.110_17del p.Arg37Profs*155 exon 1 Pathogenic, identified in 2 ALD cases (33, 72). Deleterious mutation.
152990832 c.111_114dup p.Cys39Profs*157 exon 1 Pathogenic, identified in a single ALD case (341). 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.125_26insC p.Ala43Glyfs*152 exon 1 Pathogenic, identified in 3 ALD cases (33, 49). Deleterious mutation.
152990854 c.133G>A p.Gly45Ser exon 1 Benign, based on frequency 31/1031606 in non-ALD alleles (323).
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.143C>T p.Ala48Val exon 1 Benign, based on frequency 67/1144691 in non-ALD alleles (323).
152990864 c.143_155delinsAG p.Ala48Glufs*143 exon 1 Pathogenic, identified in 3 ALD cases (200, 250). Deleterious mutation.
152990867 c.146_159del p.Pro49Hisfs*141 exon 1 Pathogenic, identified in 2 ALD cases (266, 328). 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).
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.
152990882 c.161C>T p.Thr54Met exon 1 Benign, based on frequency 40/1041069 in non-ALD alleles (323).
152990884 c.163C>T p.Gln55* exon 1 Pathogenic, identified in a single ALD case (100). Deleterious mutation.
152990894 c.173C>T p.Ser58Phe exon 1 Likely benign, based on frequency 13/1047600 in non-ALD alleles (323).
152990902 c.181G>A p.Ala61Thr exon 1 Benign, based on frequency 46/1162955 in non-ALD alleles (323).
152990920 c.199A>G p.Met67Val exon 1 Benign, based on frequency 24/1170906 in non-ALD alleles (323).
152990926 c.205delC p.Arg69Glyfs*34 exon 1 Pathogenic, identified in a single ALD case (273). Deleterious mutation.
152990929 c.208G>C p.Val70Leu exon 1 Likely benign, based on frequency 13/1059911 in non-ALD alleles (323).
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 11 ALD cases (32, 88, 97, 141, 245, 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.
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 Pathogenic, identified in 3 ALD cases (284, 307) and 3 times in ALD newborn screening (274, 284, 294).
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 8 ALD cases (33, 200, 267, 328) and in ALD NBS (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.
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)
152990966 c.245T>C p.Leu82Pro Exon 1 Variant of uncertain significance (VUS), identified in ALD newborn screening (334), but has not yet been associated with disease.
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 24 ALD cases (33, 49, 60, 62, 119, 138, 155, 253, 266, 274, 302, 312, 315, 338). 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>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.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 14/1170416 in non-ALD alleles (323).
152990987 c.266G>A p.Arg89Gln exon 1 Likely benign, based on frequency 15/1170156 in non-ALD alleles (323).
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.
152990990 c.269_273dup p.Gly92Argfs*13 Exon 1 Pathogenic, identified in a single ALD case (332). Deleterious mutation.
152990991 c.270_71del p.Glu90Aspfs*104 exon 1 Pathogenic, identified in 2 ALD cases (93). Deleterious mutation.
152990995 c.274_311del p.Gly92Hisfs*90 exon 1 Pathogenic, identified in 3 ALD cases (4, 158). Deleterious mutation.
152990995 c.274G>A p.Gly92Arg exon 1 Benign variant based on its frequency of 219/1174929 in non-ALD alleles (323).
152990996 c.275G>T p.Gly92Val exon 1 Likely benign, based on its frequency of 16/1175506 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>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 19 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.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.
152991022 c.301T>A p.Leu101Met 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 24 ALD cases (13, 16, 33, 42, 62, 97, 125, 146, 191, 274, 289, 292, 319, 325, 328). Reduced ALDP (below 30% of control cells) in patient cells (97, 146, 325) and deficient beta-oxidation (261).
152991032 c.311G>A p.Arg104His exon 1 Pathogenic, identified in 15 ALD cases (4, 32, 33, 47, 49, 132, 137, 234, 274, 289, 325, 328). Reduced ALDP (below 30% of control cells) in patient cells (325)
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 stability in patient cells (7).
152991039 c.318C>G p.Phe106Leu Exon 1 VUS, identified in ALD newborn screening (334), but has not yet been associated with disease.
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 22 ALD cases (33, 34, 53, 62, 90, 137, 156, 191, 235, 267, 284, 328). 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.
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 9 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 (245).
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 20 ALD cases (7, 29, 32, 33, 58, 145, 221, 263, 266, 274, 289, 294, 328). 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.
152991077 c.356C>A p.Ala119Asp exon 1 Likely pathogenic, identified in a single ALD case (33).
152991079 c.358dup p.Arg120Profs*75 exon 1 Pathogenic, identified in a single ALD case (292). Deleterious mutation.
152991080 c.359G>A p.Arg120His exon 1 Likely benign, based on frequency 10/1093803 in non-ALD alleles (323).
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).
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 Likely benign, based on frequency 9/1096026 in non-ALD alleles (323).
152991106 c.385dup p.Ala129Glyfs*66 exon 1 Pathogenic, identified in 2 ALD cases (59, 64). Deleterious mutation.
152991108 c.387del p.Phe130Leufs*68 exon 1 Pathogenic, identified in a single ALD case (29). Deleterious mutation.
152991111 c.390dup p.Gly131Trpfs*64 exon 1 Pathogenic, identified in ALD newborn screening (294). Deleterious mutation.
152991113 c.392G>T p.Gly131Val exon 1 Benign variant based on its frequency of 50/1209243 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_456dup p.Tyr153Serfs*62 exon 1 Pathogenic, identified in a single ALD case (328). Deleterious mutation.
152991128 c.407_458dup p.Tyr153* exon 1 Pathogenic, identified in a single ALD case (284). Deleterious mutation.
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).
152991140 c.419_420delinsAT p.Ile140Asn Exon 1 VUS, identified in ALD newborn screening (334), but has not yet been associated with disease.
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 Likely pathogenic, identified in a single ALD case (33).
152991145 c.424del p.Leu142Serfs*56 exon 1 Pathogenic, identified in a single ALD case (125). Deleterious mutation.
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).
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 its frequency 21/1210720 in non-ALD alleles (323).
152991159 c.438del p.Phe146Leufs*52 exon 1 Pathogenic, identified in a single case (302). Deleterious mutation.
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 Likely pathogenic, identified in a single ALD case (60). 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 22 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.451_460del p.Ile151Trpfs*44 Exon 1 Pathogenic, identified in a single ALD case (332). Deleterious mutation.
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 Likely pathogenic, identified in a single ALD case (16). 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.
152991185 c.464_465insC p.Glu155Aspfs*40 Exon 1 Pathogenic, identified in a single ALD case (332). 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 Benign variant, based on its frequency 47/1097532 in non-ALD alleles (323).
152991194 c.473T>C p.Leu158Pro exon 1 Pathogenic, identified in 2 ALD cases (33, 125).
152991197 c.476C>G p.Ala159Gly exon 1 Benign variant, based on its frequency 20/1211288 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 6 ALD cases (70, 111, 158, 266, 318, 328).
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 Benign variant, based on its frequency 22/1211285 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 Likely pathogenic, identified in a single ALD case (328), 5x in ALD newborn screening (274, 284), but also reported 10x in non-ALD alleles (frequency 10/1211112 alleles) (323).
152991231 c.510delC p.Tyr171Thrfs*27 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
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 14/1211247 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 45 ALD cases (29, 32, 33, 47, 49, 60, 62, 88, 93, 120, 137, 182, 239, 266, 280, 294, 306, 328, 332, 339). 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 6 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.
152991250 c.529C>T p.Gln177* exon 1 Pathogenic, identified in 18 ALD cases (29, 32, 33, 49, 60, 62, 86, 88, 93, 137, 141, 266, 284, 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.
152991258 c.537_44dup p.Arg182Profs*19 exon 1 Pathogenic, identified in 2 ALD cases (49, 266). Deleterious mutation.
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>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 8 ALD cases (16, 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.
152991283 c.562G>A p.Gly188Arg exon 1 Benign variant, based on its frequency 33/1211116 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).
152991293 c.572G>A p.Arg191His exon 1 Likely benign, based on frequency 10/1211008 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.
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 7 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 patient cells (259).
152991302 c.581A>T p.Asp194Val exon 1 Likely pathogenic, identified in a single ALD case (327).
152991302 c.581_89del p.Asp194_Leu197delinsVal exon 1 Likely pathogenic, identified in a single ALD case (51).
152991303 c.582C>G p.Asp194Glu exon 1 VUS, identified 3x ALD newborn screening (274, 295), but has not yet been associated with disease.
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 14 ALD cases (33, 207, 243, 266, 284, 312).
152991316 c.595G>A p.Glu199Lys exon 1 Likely pathogenic, identified in a single ALD case (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 131/1210757 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>A p.Ala205Glu exon 1 Pathogenic, identified in 3 ALD cases (235, 250).
152991335 c.614C>T p.Ala205Val exon 1 Likely benign, based on frequency 14/1210043 in non-ALD alleles (323).
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 7 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>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 7 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.
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 8 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).
152991380 c.659T>C p.Leu220Pro exon 1 Pathogenic, identified in 30 ALD cases (16, 32, 97, 141, 146, 205, 218, 245, 266, 290). Reduced (22% of control cells) ALDP in patient cells (32, 97, 141, 146, 290).
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.664_70dup p.Val224Glyfs*79 exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
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 Likely benign, based on frequency 15/640745 in non-ALD alleles (323).
152991395 c.674C>T p.Thr225Ile exon 1 VUS, identified in ALD newborn screening (274) , 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.
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.
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 of 150/1209292 in non-ALD alleles (323) this is a benign variant.
152991413 c.692G>A p.Arg231Gln exon 1 Likely benign, based on frequency 14/1209255 in non-ALD alleles (323).
152991413 c.692_94delinsC p.Arg231Profs*69 exon 1 Pathogenic, identified in 4 ALD cases (33, 172, 250, 328). 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 Likely pathogenic, identified in a single ALD case (245) and 5 times in ALD newborn screening (191, 274, 294).
152991422 c.701G>A p.Arg234His exon 1 Benign variant based on frequency 39/1209420 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.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 frequency 7888/1209571 in non-ALD alleles (323).
152991434 c.713C>A p.Ala238Asp exon 1 VUS, identified in ALD newborn screening (274), but has not yet been associated with disease.
152991436 c.715G>A p.Gly239Ser exon 1 Likely benign, identified in ALD newborn screening (274), but also 11x in non-ALD alleles (frequency 11/1095711 alleles) (323).
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 7 ALD cases (15, 32, 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.
152991450 c.729dup p.Ser244Leufs*57 Exon 1 Pathogenic, identified in a single ALD case (332). Deleterious mutation.
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, based on frequency 9/1093429 in non-ALD alleles (323) and 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 4x in the gnomAD database (323) frequency 4/1093397 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 Benign, based on frequency 72/1206358 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 2 ALD cases (33, 328). Deleterious mutation.
152991464 c.743G>C p.Gly248Ala exon 1 Likely benign variant identified in male with normal VLCFA levels (308)
152991469 c.748G>A p.Val250Met exon 1 Likely benign, based on frequency 13/1092420 in non-ALD alleles (323).
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 Benign, based on frequency 139/1204541 in non-ALD alleles (323).
152991478 c.757C>G p.Leu253Val exon 1 Benign, based on frequency 1439/1204688 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.
152991481 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 14 ALD cases (15, 33, 105, 209, 235, 250, 267, 274, 284, 329).
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.
152991494 c.773T>C p.Leu258Pro exon 1 Pathogenic, identified in 2 ALD cases (33, 316).
152991496 c.775C>T p.Arg259Trp exon 1 Likely benign, based on frequency 10/1197993 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 Benign, based on frequency 66/1198552 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 a single ALD case (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.
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 47 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, 332, 340). 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.
152991518 c.797G>A p.Gly266Glu exon 1 Pathogenic, identified in 6 ALD cases (32, 49, 96, 266, 328).
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 13/1191788 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 Likely pathogenic, identified in a single ALD case (33) and 2x in ALD neb=wborn screening (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.
152991541 c.820C>T p.Arg274Trp exon 1 Likely benign, identified in ALD newborn screening (334) but also 7x (frequency 7/432590) in non-ALD alleles (323).
152991542 c.821G>A p.Arg274Gln exon 1 Likely benign, based on frequency 15/1185386 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 9 times in ALD newborn screening (181, 243, 266, 274, 334), and reported 4x in the gnomAD database (323) frequency 4/1071770 in non-ALD alleles. Mildly elevated C26:0-LPC levels in plasma (291), but has not yet been associated with disease.
152991545 c.824G>A p.Arg275Gln exon 1 Likely benign, based on frequency 10/1185206 in non-ALD alleles (323).
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.828G>T p.Lys276Asn exon 1 VUS, identified in ALD newborn screening (191), but has not yet been associated with disease.
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, 239, 289, 307).
152991551 c.830G>A p.Gly277Glu exon 1 Likely pathogenic, identified in a single ALD case (33) and 1x in ALD newborn screening (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>T p.Arg280Cys exon 1 Pathogenic, identified in 20 ALD cases (32, 33, 50, 60, 191, 193, 266, 274, 294, 295, 328). 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 16 times in ALD newborn screening (191, 200, 267, 274, 284, 295, 334), 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 8 ALD cases (89, 93, 173, 332).
152991569 c.848A>C p.His283Pro exon 1 Likely pathogenic, identified in a single ALD case (284).
152991572 c.851C>A p.Ser284* exon 1 Pathogenic, identified in 4 ALD cases (32, 245, 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 4 times in ALD newborn screening (294, 296, 334) 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 Benign, based on frequency 42/1175624 in non-ALD alleles (323) confirmed by identified normal VLCFA (291).
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) and reported 7x in the gnomAD database (323) frequency 7/1050996 in non-ALD alleles, 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 3 ALD cases (32, 49, 292). Deleterious mutation. No detectable ALDP expression in patient cells (49).
152991592 c.871G>A p.Glu291Lys exon 1 Pathogenic, identified in 9 ALD cases (5, 58, 59, 60, 64, 132, 137, 266, 330). 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 30 ALD cases (15, 22, 24, 31, 32, 33, 49, 178, 245, 250, 257, 284, 290, 328). 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).
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 4 ALD cases (7, 32, 328) 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.
152991605 c.884T>G p.Phe295Cys exon 1 Likely benign, based on frequency 10/1185206 in non-ALD alleles (323).
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 40 ALD cases (24, 33, 49, 52, 59, 62, 64, 88, 100, 115, 125, 132, 137, 235, 266, 289, 292, 297, 304, 306, 318, 328). 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 16 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 8 ALD cases (29, 38, 58, 125, 280, 307). 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 135/1149491 in non-ALD alleles (323). Confirmed by functional studies in fibroblasts (290).
152991617 c.896A>G p.His299Arg exon 1 Benign, based on frequency 19/1036548 in non-ALD alleles (323) and confirmed by biochemical testing (normal plasma VLCFA and C26:0-lysoPC) (32) and functional testing in fibroblasts showing normal results (290).
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.
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).
152994677 c.901-10C>T IVS 1 Benign, based on its frequency of 773/204021 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 8 ALD cases (32, 218, 245, 290). Affects splicing of exon 2, no detectable ALDP in patient cells (290).
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>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>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.
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 15/1210936 in non-ALD alleles (323).
152994709 c.923G>A p.Arg308His exon 2 Likely benign, based on frequency 18/1210936 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).
152994711 c.925T>C p.Ser309Pro exon 2 Pathogenic, identified in 2 ALD cases (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>A p.Ser315* exon 2 Pathogenic, identified in a single ALD case (49). Deleterious mutation.
152994730 c.944C>T p.Ser315Leu exon 2 Likely benign, based on frequency 10/1185206 in non-ALD alleles (323).
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).
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.
152994756 c.970C>T p.Arg324Cys exon 2 VUS, identified 8x in ALD newborn screening (191, 200, 267, 294, 334). Affects ALDP function in fibroblasts(290), but has not yet been associated with disease.
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 4 ALD cases (33, 125, 332).
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.
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.
152994775 c.989T>A p.Leu330Gln exon 2 VUS, identified in ALD newborn screening (334), but has not yet been associated with disease.
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.
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.
152994783 c.997T>A p.Phe333Ile exon 2 Benign, confirmed by normal C26:0-LPC in dried blood spots (337).
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).
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>T p.Ala341Ser exon 2 Benign, based on frequency 24/1210343 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).
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 24 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.
152994847 c.1061C>T p.Ala354Val Exon 2 Likely benign, based on frequency 9/1097232 in non-ALD alleles (323).
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, based on frequency 14/1209770 in non-ALD alleles (323), and 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).
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.
152994872 c.1081+5G>C p.Leu303_Glu498del IVS 2 Pathogenic, identified in a single ALD case (104). Deleterious mutation. Affects splicing of exon 2 resulting in the deletion of exons 2-5 and no detectable ALDP expression in patient cells (104).
153001534 c.1082-32>delC IVS 2 Benign, based on its frequency of 82/193725 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)
153001566 c.1082A>G p.Asp361Gly exon 3 Likely benign, based on frequency 10/1084253 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 17/1120729 in non-ALD alleles (323).
153001577 c.1093G>C p.Val365Leu exon 3 Likely benign, based on frequency 12/1120729 in non-ALD alleles (323).
153001580 c.1096A>T p.Lys366* exon 3 Pathogenic, identified in 4 ALD cases (181, 266). Deleterious mutation.
153001585 c.1101_1108dup p.Leu370Trpfs*12 exon 3 Pathogenic, no clinical info presented, but deleterious mutation (266).
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.
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 44/1208728 in non-ALD alleles (323).
153001601 c.1117_19del p.Lys373del exon 3 VUS, identified in a single ALD case (33), but also with a 10/1210411 frequency 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 10/1210650 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.
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 Likely benign, identified 2x in ALD newborn screening (284, 334), but also with a frequency 12/1098000 in non-ALD alleles (323).
153001625 c.1141C>T p.Arg381Cys exon 3 Likely benign, identified in ALD newborn screening (274), but also with a frequency 20/1210361 in non-ALD alleles (323).
153001626 c.1142G>A p.Arg381His exon 3 Benign, based on frequency 27/1210257 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.
153001639 c.1155del p.Phe385Leufs*8 exon 3 Pathogenic, identified in a single ALD case (90). Deleterious mutation.
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 18 ALD cases (58, 98, 181, 247, 252, 266, 306, 316).
153001650 c.1166G>A p.Arg389His exon 3 Pathogenic, identified in 47 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).
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 Benign, based on frequency 42/1210439 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 10 ALD cases (33, 60, 181, 284, 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).
153001671 c.1187C>A p.Ala396Glu exon 3 Pathogenic, identified in 3 ALD cases within a single family (284). Mutation cosegregates with ALD presentation and elevated VLCFA.
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 48 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, 284, 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>T p.Ser404Leu exon 3 Likely benign, based on frequency 13/1210573 in non-ALD alleles (323).
153001695 c.1211C>A p.Ser404* exon 3 Pathogenic, identified in a single ALD case (98). 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.
153001698 c.1214_16del p.Ser405del exon 3 Pathogenic, identified in 4 ALD cases (84, 287, 332). Likely 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 4 ALD cases (13, 315, 332). 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.
153001773 c.1225-26G>T IVS 3 Likely benign, based on frequency 9/178416 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 10/1210733 in non-ALD alleles (323).
153001811 c.1237G>C p.Ala413Pro exon 4 Likely pathogenic, identified in 3 ALD cases (33, 328).
153001814 c.1240_1243delGGCT p.Gly414Thrfs*26 exon 4 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153001815 c.1241G>A p.Gly414Asp exon 4 Likely pathogenic, identified in a single ALD case (307).
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 6 ALD cases within a single family (299). Mutation cosegregates with elevated VLCFA.
153001821 c.1247C>G p.Thr416Arg exon 4 Pathogenic, identified in 5 ALD cases (284, 313).
153001822 c.1248del p.Ala417Profs*24 exon 4 Pathogenic, identified in 2 ALD cases (33, 284). 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 31 ALD cases (8, 15, 29, 40, 58, 145, 165, 177, 178, 191, 228, 263, 266, 288, 292, 302, 306, 328). Affects ALDP stability in patient cells (33, 58, 165).
153001827 c.1253G>A p.Arg418Gln exon 4 VUS, identified in 9 ALD newborn screening cases (191, 245, 267, 274, 294, 303) and 3x in the gnomAD database frequency 3/1098147 in non-ALD alleles (323), but has not yet been associated with disease.
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 9/1210756 in non-ALD alleles (323).
153001835 c.1261G>A p.Glu421Lys exon 4 Likely benign, based on frequency 12/1210825 in non-ALD alleles (323).
153001837 c.1263delG p.Met422Cysfs*19 exon 4 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
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.
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.
153001871 c.1297C>G p.His433Asp exon 4 Benign, confirmed by normal plasma VLCFA levels (284).
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).
153001901 c.1327G>A p.Ala443Thr exon 4 Likely benign, based on frequency 17/1210775 in non-ALD alleles (323).
153001904 c.1330C>T p.Gln444* exon 4 Pathogenic, identified in 4 ALD cases (32, 60, 289). Deleterious mutation.
153001908 c.1334C>T p.Ala445Val exon 4 Benign, identified in ALD newborn screening (274), but also with a frequency of 36/1210718 in non-ALD alleles (323).
153001928 c.1354C>T p.Arg452Trp exon 4 Benign, based on frequency of 124/1210659 in non-ALD alleles (323).
153001929 c.1355G>A p.Arg452Gln exon 4 Benign, based on frequency 9/1210678 in non-ALD alleles (323) and confirmed by 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.
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 Benign, based on frequency 27/1097885 in non-ALD alleles (323).
153001946 c.1372G>T p.Glu458* exon 4 Pathogenic, identified in a single ALD case (29). Deleterious mutation.
153001950 c.1376dup p.Leu461Profs*95 exon 4 Pathogenic, identified in a single ALD case (336). 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
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 13/1209516 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).
153002609 c.1394-2A>C p.Gly465fs*? IVS 4 Likely pathogenic, identified in a single ALD case (341). Should effect splicing and protein stability, but experimental proof not provided.
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 Likely benign, based on frequency 17/1210886 in non-ALD alleles (323)
153002617 c.1400_05del p.Val467_Val468del exon 5 Pathogenic, identified in 2 ALD cases (143).
153002628 c.1411G>C p.Glu471Gln exon 5 Benign, based on frequency 28/1097661 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 185 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, 325, 328, 332, 335). 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).
153002638 c.1421T>C p.Ile474Thr exon 5 Pathogenic, identified in 4 ALD cases (33, 88, 125).
153002639 c.1422_26del p.Ile474Metfs*80 exon 5 Pathogenic, identified in a single ALD case (66). Deleterious mutation.
153002645 c.1428C>A p.Cys476* exon 5 Pathogenic, identified in a single ALD case (125). Deleterious mutation.
153002646 c.1429G>A p.Glu477Lys exon 5 Likely benign, based on frequency 11/1210992 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).
153002661 c.1444G>A p.Val482Ile exon 5 Benign based on frequency 57/1210964 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), and 6x (frequency 6/1097492) in non-ALD alleles (323). 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>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 6 ALD cases (3, 325), reduced (below 15%) ALDP in patient cells (325).
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 2 ALD cases (33, 328). Deleterious mutation.
153002679 c.1462G>A p.Val488Met exon 5 Likely benign, based on frequency 11/1210992 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).
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).
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.
153002704 c.1487G>C p.Arg496Thr exon 5 Likely benign, based on frequency 17/1208651 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 (245, 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).
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.
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 4x in ALD newborn screening (274) and reported 8x (frequency 8/1209600 alleles) in non-ALD alleles (323), 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>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 49 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, 328). 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>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>C p.Lys513Thr exon 6 Benign based on frequency 23/1093309 in non-ALD alleles (323)
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 Likely pathogenic, identified in a single ALD case (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 60 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, 328, 332). 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.
153005620 c.1563_1574delinsAGCACA p.Gly522_Pro525delinsAlaHis exon 6 Pathogenic, identified in a single ALD case (284). Deleterious mutation.
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 3 ALD cases (96, 235, 328), confirmed by biochemical testing. No detectable ALDP in patient cells (290).
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>T p.Pro525Ser exon 6 Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58).
153005634 c.1577C>G p.Thr526Arg exon 6 Likely pathogenic, identified in 1 ALD case (284) and in ALD newborn screening (191).
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 40/1210480 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>T p.Gly529Val exon 6 Likely pathogenic, identified in 4 cases from a single family (307).
153005643 c.1586G>A p.Gly529Asp exon 6 Pathogenic, identified in 2 ALD cases (33).
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 12 times in ALD newborn screening (181, 243, 267, 274, 328), 2x an incidental finding (307, 308) and reported 2x in the gnomAD database (323) frequency 2/753326 in non-ALD alleles, 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>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.
153005663 c.1606C>T p.Pro536Ser exon 6 Likely benign, based on frequency 9/640747 in non-ALD alleles (323)
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 5 ALD cases (96, 235, 250, 328). Deleterious mutation.
153005669 c.1612C>T p.Arg538Cys exon 6 Likely benign, based on frequency 13/1098022 in non-ALD alleles (323)
153005670 c.1613G>A p.Arg538His exon 6 Likely benign, based on frequency 10/1097959 in non-ALD alleles (323)
153005671 c.1614_1640dup p.Met548_Ser549insFYIPQRPY exon 6 Pathogenic, identified in a single ALD case (100). Deleterious mutation.
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.
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 53 ALD cases (27, 29, 32, 33, 40, 49, 60, 65, 114, 139, 141, 145, 158, 178, 208, 214, 227, 228, 266, 274, 289, 292, 332). 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).
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.
153006013 c.1635-16_1645delins CACAGACATGTAGGGC p.Pro546fs*? IVS 6 Pathogenic, identified in a single ALD case (243). Deleterious mutation.
153006026 c.1635-2A>G p.Pro546fs*? IVS 6 Pathogenic, identified in 5 ALD cases (11, 32). Deleterious mutation. No detectable ALDP in patient cells (32) 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 VUS, identified in ALD newborn screening (191), but has not yet been associated with disease.
153006044 c.1651G>T p.Gly551Cys exon 7 Likely pathogenic, identified in a single ALD case (332).
153006045 c.1652G>C p.Gly551Ala exon 7 Likely pathogenic, identified in a single ALD case (306), and in ALD newborn screening (274).
153006045 c.1652G>A p.Gly551Asp exon 7 Likely pathogenic, identified in a single ALD case (328).
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 72 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>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.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).
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 45 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, 325). Affects ALDP stability in patient cells (7, 32, 33, 49) to below 5% (325).
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>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.
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.
153006099 c.1706A>G p.Lys569Arg exon 7 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>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 10/1096431 in non-ALD alleles (323).
153006129 c.1736T>C p.Ile579Thr exon 7 VUS, identified 2x in ALD newborn screening (302, 334), 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), and reported 3x in the gnomAD database (frequency 3/112667 in non-ALD alleles (323), 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 114/1209082 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).
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 10 ALD cases (20, 88, 176, 266, 333). Deleterious mutation.
153006164 c.1771del p.Arg591Glyfs*45 exon 7 Pathogenic, identified in 2 ALD cases (33, 284). 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, 33, 78, 98, 108, 145, 175, 191, 238, 245, 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 Likely pathogenic, identified in a single ALD case (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 Likely 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 Pathogenic, identified in a single ALD case (284) and 1x in ALD newborn screening (303). Affects ALDP function in fibroblasts (303).
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 Benign, based on frequency 29/1196724 in non-ALD alleles (323).
153008454 c.1794G>T p.Met598Ile exon 8 Benign, based on frequency 39/1197846 in non-ALD alleles (323).
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 460/1199988 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 Pathogenic, identified in 2 ALD cases (33, 325) and 1x in ALD NBS (284). Affects ALDP stability to below 5% in patient cells (325).
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>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 45 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, 325) using a quantitative immunoblot technique. Mutation affects ATP-binding capacity of ALDP (194, 244) and results in 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>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 45 ALD cases (15, 16, 32, 33, 49, 60, 62, 72, 88, 90, 97, 141, 146, 235, 266, 274, 306, 316, 328). 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 6 ALD cases (16, 32, 97, 141, 266, 326). 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, identified in a single ALD case (328). Deleterious mutation
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 Benign, based on frequency 39/1196864 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 15 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 50 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, 328). 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 71 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, 328, 332, 335). 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.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, 245).
153008665 c.1866-10G>A p.Pro623fs*? IVS 8 Pathogenic, identified in 32 ALD cases (11, 30, 32, 33, 58, 72, 100, 125, 145, 156, 178, 191, 235, 245, 250, 274, 289, 290, 292). No detectable ALDP in patient cells (32, 58, 72) due to splicing defect (11, 30).
153008673 c.1866-2A>T p.Pro623fs*? IVS 8 Pathogenic, identified in 5 ALD cases (32, 245, 250). No detectable ALDP in patient cells (291) due to splicing defect.
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).
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 28 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>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>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).
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).
153008703 c.1894A>G p.Thr632Ala exon 9 VUS, identified in ALD newborn screening (191), but has not yet been associated with disease.
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), identified in a single ALD case (284).
153008708 c.1899delC p.Ser633Argfs*3 exon 9 Pathogenic, identified in 5 ALD cases (141, 245, 250, 290). Deleterious mutation. No detectable ALDP in patient cells (141, 290).
153008708 c.1899C>A p.Ser633Arg exon 9 Pathogenic, identified in 2 ALD cases (29, 96).
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 Conflicting results (therefore a VUS), identified in a single ALD case (49), 5x in ALD newborn screening (274, 284) and 2x in the gnomAD database (frequency 2/1207099 non-ALD alleles)(323). But, independent analysis reported normal C26:0-LPC in plasma (307).
153008712 c.1903_04insCCA p.Val635delinsAlaMet exon 9 Pathogenic, identified in 2 ALD cases (72, 145). Affects ALDP stability in patient cells (72).
153008713 c.1904_1912del p.Val635_Ile637del exon 9 Pathogenic, identified in a single ALD case (284). Deleterious mutation.
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 4 ALD cases (27, 42, 266, 325). Affects ALDP in patient cells (42) to below 5% (325).
153008718 c.1909del p.Ile637Serfs*54 exon 9 Pathogenic, identified in a single ALD case (289). Deleterious mutation.
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 3x in the gnomAD database (323) frequency 3/1093249 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).
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.
153008742 c.1933dup p.Gln645Profs*89 exon 9 Pathogenic, identified in a single ALD case (284). 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) and reported 5x in the gnomAD database (323) frequency 5/1198793 in non-ALD alleles (323), 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).
153008764 c.1955T>A p.Ile652Asn exon 9 Likely pathogenic, identified in a single ALD case (328).
153008770 c.1961T>G p.Leu654Arg exon 9 Pathogenic, identified in 2 ALD cases (33, 328).
153008770 c.1961T>C p.Leu654Pro exon 9 Pathogenic, identified in 22 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.
153008779 c.1970T>C p.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 70 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, 328). 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 3 ALD cases (48, 289, 332).
153008791 c.1982_83del p.Pro661Leufs*72 exon 9 Pathogenic, identified in 2 ALD cases (32). Deleterious mutation.
153008793 c.1984T>C p.Ser662Pro exon 9 Likely pathogenic, identified in a single ALD case (328).
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.
153008941 c.1992-2A>G p.Lys665fs*? IVS 9 Pathogenic, identified in 8 ALD cases (199, 245, 266, 274). Deleterious mutation.
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).
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.
153008948 c.1997A>G p.Tyr666Cys exon 10 Likely pathogenic, identified in a single ALD case (328).
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 2 ALD cases (266, 284). 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 6 ALD cases (49, 62, 90, 97, 284). 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 (328).
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_2007del p.His669Leufs*64 exon 10 Pathogenic, identified in a single ALD case (307). Deleterious mutation.
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 3 ALD cases (181, 284, 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).
153008971 c.2020G>A p.Asp674Asn exon 10 Likely benign based on frequency 12/1203361 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 Benign, based on frequency 59/1202517 in non-ALD alleles (323).
153008983 c.2032G>T p.Gly678Cys exon 10 Benign, confirmed by biochemical testing (210).
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 Likely benign, based on its frequency of 19/1201576 in non-ALD alleles (323).
153008995 c.2044G>C p.Glu682Gln exon 10 Benign, based on its frequency of 225/1201370 in non-ALD alleles (323).
153009002 c.2051T>C p.Leu684Pro exon 10 Pathogenic, identified in 2 ALD cases (33, 225, 301).
153009012 c.2061_2200del p.Leu690Profs*65 exon 10 Likely pathogenic, identified in a single ALD case (32).
153009016 c.2065C>T p.Arg689Cys exon 10 Benign, based on frequency of 82/1199175 in non-ALD alleles (323).
153009029 c.2078C>T p.Thr693Met exon 10 Benign, identified in a single ALD case (49), but also with a frequency of 37/1085903 in non-ALD alleles (323). Normal ALDP level in fibroblasts (49).
153009031 c.2080G>A p.Glu694Lys exon 10 VUS, identified in ALD newborn screening (191), but has not yet been associated with disease.
153009038 c.2087A>T p.Lys696Met exon 10 Benign based on frequency 137/1197390 in non-ALD alleles (323).
153009040 c.2089C>A p.Gln697Lys exon 10 Likely benign, based on frequency of 12/1083442 in non-ALD alleles (323).
153009041 c.2090A>G p.Gln697Arg exon 10 Likely benign, based on frequency of 10/1082638 in non-ALD alleles (323).
153009043 c.2092C>T p.Arg698Trp exon 10 Likely benign, based on frequency of 10/1082862 in non-ALD alleles (323).
153009062 c.2111C>T p.Ala704Val exon 10 Likely benign, identified 3x in ALD newborn screening (274, 334) and reported 9x in the gnomAD database (323) frequency 9/1191935 in non-ALD alleles, but has not yet been associated with disease.
153009083 c.2132G>A p.Arg711Gln exon 10 Likely benign, based on frequency of 13/1186133 in non-ALD alleles (323).
153009085 c.2134C>T p.Arg712Cys exon 10 VUS, identified 4x in ALD newborn screening (274, 290), but also with a frequency 5/1073690 in non-ALD alleles (323). Normal VLCFA levels in fibroblasts (290) and mildly elevated C26:0-lysoPC levels in plasma (291), 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.
153009097 c.2146C>T p.Leu716Phe exon 10 Likely benign, based on frequency 9/1071314 in non-ALD alleles (323).
153009115 c.2164G>A p.Glu722Lys exon 10 Benign based on frequency 28/1064242 in non-ALD alleles (323).
153009124 c.2173G>A p.Ala725Thr exon 10 Likely benign, based on frequency of 12/1173516 in non-ALD alleles (323).
153009131 c.2180C>G p.Ala727Gly exon 10 Benign based on frequency 37/1059553 in non-ALD alleles (323).
153009136 c.2185G>A p.Val729Met exon 10 Likely benign, based on frequency of 12/1059270 in non-ALD alleles (323).
153009140 c.2189C>G p.Pro730Arg exon 10 Likely benign based on frequency 15/1169981 in non-ALD alleles (323).
153009140 c.2189C>T p.Pro730Leu exon 10 Likely benign based on frequency 13/1169980 in non-ALD alleles (323).
153009152 c.2201C>T p.Pro734Leu exon 10 Benign, based on frequency 80/1168142 in non-ALD alleles (323).
153009163 c.2212G>C p.Gly738Arg exon 10 Likely benign, based on frequency 15/116220 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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127 Traficante et al. (2015) Clin Case Rep 3(7):643-5.
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144 The variant p.Gly528Ser was identified in a whole exome sequencing analysis. Biochemical testing revealed no elevated VLCFA. Personal communication Dr. Vikram Shakkottai, University of Michigan, Ann Arbor, US
145 Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu’ Children’s Research Hospital, Rome, Italy. Contact person: Chiara Aiello, PhD (phone: +390668592103). Unpublished data
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180 Wilichowski et al. (1998) Ann Neurol. 43(6):835-6.
181 Molecular Diagnostics Laboratory, University of Minnesota Medical Center, Minnesota (USA). Contact person: K. Wiens (e-mail: kwiens2@Fairview.org). Unpublished data
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184 Serra Soler et al. (2017) Endocrinol Diabetes Nutr. 64(8):458-459.
185 Son et al. (2017) Stem Cell Res. 25:46-49.
186 Istituto Neurologico C. Besta, via Celoria 11, 20133 Milano, Italy. Contact person: Dr. Ettore Salsano (e-mail: Ettore.Salsano@istituto-besta.it). Unpublished data
187 Turco et al. (2017) Brain Dev. S0387-7604(17)30271
188 Yan et al. (2017) Oncotarget. 8(50):87529-87538.
189 Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf (Germany). Contact person: Alexandra R. Wey-Fabrizius (e-mail: a.wey-fabrizius@uke.de). Unpublished data
190 Smith et al. (2017) Pract Neurol. pii: practneurol-2017-001718. and personal communication Dr. Misra
191 New York State newborn screening program, NYSDOH Wadsworth Center, Albany, New York (USA). Contact person: Michele Caggana (michele.caggana@health.ny.gov). Unpublished data
192 Zheng et al. (2017) Medicine (Baltimore). 96(51):e9481.
193 Isaacs et al. (2014) Neurol Clin Pract. 4(2):168-170.
194 Roerig et al. (2001) FEBS Lett. 492(1-2):66-72.
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198 Chen et al. (2018) J Medical Case Reports. 12:182
199 Carra-Dalliere et al. (2013) Clin Neurol Neurosurg. 115(9):1906-7.
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.
202 Zhang et al. (2018) Neurol Sci. doi: 10.1007/s10072-018-3596-7
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208 Unluturk et al. (2019) Acta Neurol Belg. doi: 10.1007/s13760-019-01085-8..
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.
212 Moser et al. (1984) Neurology 34(11):1410-7.
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220 Chen et al. (2019) Parkinsonism Relat Disord. 65:256-260.
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234 Pinto et al. (2020) Arq Neuropsiquiatr 78(2):126-127.
235 Liberato et al. (2019) Neurology. 92(15):e1698-e1708.
236 Eng and Regelmann (2019) J Pediatr. 211:211-214.
237 Richter et al (2020) Case Rep Genet. 3256539.
238 Lee et al (2020) JAMA Network Open. 3;3(1):e1920356.
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240 Dekker et al (2019) Case Rep Genet. 2019:6148425.
241 Tanaka et al (2020) Endocr J. 67(6):655-658..
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243 Wiens et al (2019) Am J Med Genet A. 179(7):1205-1213.
244 Gartner et al (2002) Endocr Res. 28(4):741-8.
245 Amsterdam Leukodystrophy Center, Amsterdam UMC. Amsterdam UMC, the Netherlands. Dr. Marc Engelen Unpublished data
246 Azar et al (2020) Eur J Neurol. doi: 10.1111/ene.14297.
247 Benzoni et al (2020) J Neurol 267(6):1849-1851.
248 Cho et al (2020) Endocrinol Metab (Seoul). 35(1):188-191.
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250 Mallack et al (2020) Neurology. 94(24):e2499-e2507.
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252 Bianchi-Marzoli et al (2021) Neurol Sci. 42(1):235-241.
253 Obara et al (2020) J Gen Fam Med;21(4):146-147
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255 Porto et al (2020) Neurol Clin Neurosci. doi.org/10.1111/ncn3.12425
256 Freitas et al (2020) Lancet 396(10249):498.
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263 Capalbo et al (2020) J Clin Endocrinol Metab. 106(3):762-773.
264 Hall et al (2020) Int J Neonatal Screen. 6(4):E81
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
268 Chien et al (2020) Clin Chim Acta 514:100-106.
269 Liu et al (2020) JAMA Neurol. 78(3):367-368.
270 Curiel et al (2017) Mol Genet Metab 122(3):130-133.
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275 Alfadhel et al (2021) Front. Pediatr. doi.org/10.3389/fped.2021.633385
276 Campopiano et al (2021) Genes 12(5):775.
277 Zhang et al (2021) Neuropsychiatr Dis Treat 17:1451-1458.
278 Mohn et al (2021) Endocrinol Diabetes Metab Case Rep 2021:20-0125.
279 Pinheiro Moraes de Moraes et al (2021) Arq Neuropsiquiatr 79(5):463-464.
280 Olgac et al (2021) J Pediatr Endocrinol Metab 34(9):1169-1179.
281 Chang et al (2021) BMC Med Genomics 14(1):172.
282 Yada et al (2021) Mol Genet Metab Rep 28:100778
283 Kim et al (2021) Ann Clin Neurophysiol 23:61-64.
284 Blood and Marrow Transplant Program, University of Minnesota Medical School, Minneapolis, USA. 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.
290 van de Stadt et al (2021) Genes:1930.
291 Laboratory Genetic Metabolic Diseases, Amsterdam UMC, the Netherlands. 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. (cohenju@kennedykrieger.org). 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.
323 gnomAD (Genome Aggregation Database), ABCD1 gene variants
324 Ghosh et al Neurol Perspect. 2023 Apr-Jun;3(2):100124.
325 Buda et al Biomolecules 13(9):1333.
326 Zhu et al Endocrine. 2023 Oct 16. doi: 10.1007/s12020-023-03562-w.
327 University of Tunis El Manar, Tunis, Tunisia. Contact person: Dr. Najoua Miladi. Unpublished data
328 Massachusetts General Hospital, Center for Rare Neurological Diseases, Harvard Medical School, Boston, USA. Dr Florian Eichler. Unpublished data
329 Chen et al Medicine (Baltimore). 2024 Jan 12;103(2):e36946
330 Gornostal et al Stem Cell Research 2024 Feb:74:103298.
331 Shchubelka et al J Med Case Rep. 2024 Jan 21;18(1):25.
332 Wang et al Pediatr Neurol. 2024 Jan 1;152:87-92.
333 Miller et al Radiol Case Rep. 2023 Nov 18;19(1):493-498.
334 Tang et al Clin Chim Acta. 2024 Jan 1;552:117653.
335 Menezes et al Cureus 2024 Jan 18;16(1):e52496
336 Zhao et al Heliyon. 2024 Mar 28;10(7):e28987
337 The Grey Zone Project
338 Liu et al Medicine (Baltimore). 2024 Apr 19;103(16):e37874.
339 Ni et al JAMA Neurol. 2024;81(5):549-550.
340 Rajakumar et al Degener Neurol Neuromuscul Dis. 2024 Jun 17:14:75-83.
341 Wang et al Ital J Pediatr. 2024 Jul 2;50(1):124.

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Last modified | 2024-07-06