The ALD Mutation Database

The ALD Mutation Database reports all mutations and variations conform to the nomenclature recommended by the Human Genome Variation Society. All mutations and variants, including those already published, are annotated using the “Alamut Visual” software package using transcript NM_000033.3 on GRCh37 (hg19) as reference sequence. The variants (VUS (variant of unknown significance), polymorphisms and synonymous variants) reported come from the genome Aggregation Database (gnomAD). This work has also identified variants in the ABCD1 gene, which are included in the ALD Mutation Database.
The ALD Mutation Database is a community-driven project. Its strength lies in the sharing of information through collaborations with many diagnostic centers. If your diagnostic laboratory uses the ALD Mutation Database as a reference guide, please share your ABCD1 mutations identified with the ALD Mutation Database to make them available to others (your contribution will be acknowledged).
Because ABCD1 mutations have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided.
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Chromosome position Variant Consequence Exon Remark
152990663 c.-59C>T 5′ UTR Benign, based on its frequency of 11/150 alleles (48) and 2021/21540 (X:152990663 C/T) alleles.
152990674 c.-48G>T 5′ UTR VUS (X:152990674 G/T) frequency 1/21358 alleles
152990679 c.-43A>T 5′ UTR VUS (X:152990679 A/T) frequency 5/62771 alleles
152990690 c.-32C>G 5′ UTR VUS( X:152990690 C/G) frequency 3/56057 alleles
152990698 c.-24_57delinsA p.0? (no translation initiation) 5′ UTR Likely pathogenic, identified in a single ALD case (33).
152990700 c.-22C>T p.0?
upstream ATG (out of frame)
5′ UTR Pathogenic, identified in a single ALD case (32). Affects ALDP stability in patient cells (32).
152990700 c.-22C>G 5′ UTR VUS( X:152990700 C/G) frequency 1/58967 alleles
152990702 c.-20C>T 5′ UTR Benign, based on its frequency of 54/7395 South Asian alleles (X:152990702 C/T).
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 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152990712 c.-10C>T 5′ UTR Status unknown (VUS), identified in ALD newborn screening (191).
152990714 c.-8C>T 5′ UTR VUS (X:152990714 C/T) frequency 2/66873 alleles
152990718 c.-4_5delins10 p.? 5′ UTR / exon 1 Pathogenic, identified in ALD newborn screening (191). Deleterious mutation.
152990722 c.1A>G p.Met1Val
(no translation initiation)
exon 1 Pathogenic, identified in 23 ALD cases (32, 102, 139, 141, 218, 266). No detectable ALDP in patient cells (102, 139, 141).
152990722 c.1A>T p.Met1Val
(no translation initiation)
exon 1 Likely pathogenic, identified in a single ALD case (160).
152990723 c.2T>A p.Met1Lys
(no translation initiation)
exon 1 Pathogenic, identified in 5 ALD cases (58). No detectable ALDP in patient cells (58).
152990724 c.3G>A p.Met1Ile
(no translation initiation)
exon 1 Likely pathogenic, identified in a single ALD casea href=”#33″>33).
152990724 c.3G>C p.Met1Ile
(no translation initiation)
exon 1 Likely pathogenic, identified in a single ALD case (73).
152990731 c.10dup p.Leu4Profs*191 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152990737 c.16_22delinsCT p.Arg6Leufs*187 exon 1 Pathogenic, identified in 2 ALD cases (200, 266). Deleterious mutation.
152990740 c.19C>T p.Pro7Ser exon 1 VUS (X:152990740 C/T) frequency 1/21371 alleles.
152990742 c.21_64del p.Arg8Glyfs*172 exon 1 Pathogenic, identified in 1 ALD case (274). Deleterious mutation.
152990751 c.30G>A p.Trp10* exon 1 Pathogenic, identified in 4 ALD cases (7, 58, 266). No detectable ALDP in patient cells (7).
152990751 c.30G>C p.Trp10Cys exon 1 VUS (X:152990751 G/C) frequency 1/81065 alleles.
152990752 c.31_46del p.Arg11Serfs*52 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152990753 c.32G>C p.Arg11Pro exon 1 VUS (X:152990753 G/C) frequency 1/21315 alleles.
152990757 c.36del p.Asn13Thrfs*3 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152990757 c.36dupG p.Asn13Glufs*182 exon 1 Pathogenic, identified in a single ALD case (32). Deleterious mutation.
152990759 c.38A>C p.Asn13Thr exon 1 Benign variant based on 287/107168 alleles (X:152990759 A/C), confirmed by biochemical testing (48).
152990761 c.40A>G p.Thr14Ala exon 1 VUS (X:152990761 A/G) frequency 7/86193 alleles.
152990762 c.41C>G p.Thr14Arg exon 1 Benign variant based on 39/103760 alleles (X:152990762 C/G).
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 variant, confirmed by biochemical testing (139).
152990772 c.51_54dup p.Ala19Hisfs*177 exon 1 Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58).
152990776 c.55G>T p.Ala19Ser exon 1 Benign variant, confirmed by biochemical testing (104).
152990778 c.57del p.Val20Cysfs*48 exon 1 Pathogenic, identified in a single ALD case (16). No detectable ALDP in patient cells (146).
152990788 c.67_83del p.Ala23Serfs*166 exon 1 Pathogenic, identified in a single ALD case (71). Deleterious mutation.
152990791 c.70del p.Leu24Serfs*44 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152990801 c.80A>C p.Tyr27Ser exon 1 Probably pathogenic, identified in ALD newborn screening (243). Variant not present in unaffected male family member.
152990809 c.88dup p.His30Profs*165 exon 1 Pathogenic, identified in 2 ALD cases (189). Deleterious mutation.
152990811 c.90C>T p.His30His exon 1 Synonymous (X:152990811 C/T) frequency 5/108570 alleles..
152990813 c.92A>G p.Lys31Arg exon 1 VUS (X:152990813 A/G) frequency 10/92340 alleles.
152990816 c.95T>C p.Val32Ala exon 1 VUS (X:152990816 T/C) frequency 1/88007 alleles.
152990817 c.96_97del p.Tyr33Profs*161 exon 1 Pathogenic, identified in a single ALD case (257). Deleterious mutation.
152990818 c.97_100del p.Tyr33Profs*34 exon 1 Pathogenic, identified in a single ALD case (48). Deleterious mutation.
152990820 c.99C>A p.Tyr33* exon 1 Pathogenic, identified in a single ALD case (105). Deleterious mutation.
152990820 c.99_102del p.Pro34Trpfs*33 exon 1 Pathogenic, identified in a single ALD case (100). Deleterious mutation.
152990821 c.100C>T p.Pro34Ser exon 1 VUS (X:152990821 C/T) frequency 4/112890 alleles.
152990823 c.102delinsAT p.Leu35Phefs*160 exon 1 Pathogenic, identified in a single ALD case (24). Deleterious mutation.
152990823 c.102dup p.Val36Glyfs*159 exon 1 Pathogenic, identified in a single ALD case (120). Deleterious mutation.
152990829 c.108G>A p.Val36Val exon 1 Synonymous (X:152990829 G/A).
152990830 c.109C>G p.Arg37Gly exon 1 Likely pathogenic, identified in a single ALD case (32).
152990831 c.110_17del p.Arg37Profs*155 exon 1 Pathogenic, identified in 2 ALD cases (33, 72). Deleterious mutation.
152990833 c.112C>T p.Gln38* exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152990836 c.115_31delinsGCA p.Cys39Lysfs*151 exon 1 Pathogenic, identified in a single ALD case (60). No detectable ALDP in patient cells (60).
152990840 c.119_47del p.Leu40Argfs*145 exon 1 Pathogenic, identified in a single ALD case (52). Deleterious mutation.
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.
152990859 c.138_39insT p.Gln47Serfs*148 exon 1 Pathogenic, identified in a single ALD case (7). Deleterious mutation.
152990860 c.139C>T p.Gln47* exon 1 Pathogenic, identified in 6 ALD cases (33, 58, 105, 225, 274). Deleterious mutation. No detectable ALDP in patient cells (58).
152990860 c.139del p.Gln47Argfs*21 exon 1 Pathogenic, identified in ALD newborn screening (191). Deleterious mutation.
152990864 c.143_155delinsAG p.Ala48Glufs*143 exon 1 Pathogenic, identified in 3 ALD cases (200, 250). Deleterious mutation.
152990864 c.143C>T p.Ala48Val exon 1 VUS (X:152990864 C/T) frequency 2/21376 alleles.
152990866 c.145_46insCGAC p.Ala50Thrfs*146 exon 1 Pathogenic, identified in a single ALD case (63). No detectable ALDP in patient cells (63).
152990867 c.146_159del p.Pro49Hisfs*141 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152990868 c.147C>T p.Pro49Pro exon 1 Synonymous (X:152990868 C/T).
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.
152990884 c.163C>T p.Gln55* exon 1 Pathogenic, identified in a single ALD case (100). Deleterious mutation.
152990892 c.171C>G p.Ala57Ala eonx 1 Synonymous (X:152990892 C/G).
152990894 c.173C>G p.Ser58Cys exon 1 VUS (X:152990894 C/G) frequency 4/106927 alleles.
152990894 c.173C>T p.Ser58Phe exon 1 VUS (X:152990894 C/T) frequency 10/106927 alleles.
152990902 c.181G>A p.Ala61Thr exon 1 VUS (X:152990902 G/A) frequency 18/127289 alleles..
152990926 c.205delC p.Arg69Glyfs*34 exon 1 Pathogenic, identified in a single ALD case (273). Deleterious mutation.
152990927 c.206G>A p.Arg69Gln exon 1 VUS (X:152990927 G/A) frequency 1/21537 alleles.
152990929 c.208G>A p.Val70Ile exon 1 VUS (X:152990929 G/A) frequency 2/120391 alleles.
152990941 c.220C>T p.Arg74Trp exon 1 Pathogenic, identified in 9 ALD cases (32, 88, 97, 141). Reduced (7% of control cells) ALDP in patient cells (97).
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.225C>T p.Leu75Leu exon 1 Synonymous (X:152990946 C/T).
152990946 c.225_42del p.Trp77_Leu82del exon 1 Pathogenic, identified in 3 ALD cases (58, 111, 191). No detectable ALDP in patient cells (58).
152990950 c.229_237delTGGCTCCTG p.Trp77_Leu79del exon 1 Pathogenic, identified in a single ALD case (274). Deleterious mutation
152990952 c.231G>T p.Trp77Cys exon 1 VUS (X:152990952 G/T).
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 6 ALD cases (33, 200, 274). Deleterious mutation.
152990955 c.234_42dupCCTGCGGCT p.Arg80_Leu82dup exon 1 Pathogenic, identified in 5 ALD cases (33, 186). Deleterious mutation.
152990961 c.240_41insTTTGCG p.Arg80_Leu81insPheAla exon 1 Pathogenic, identified in a single ALD case (27). Deleterious mutation.
152990961 c.240_41insTCCTGCGGC p.Arg80_Leu81insSerCysGly exon 1 Pathogenic, identified in 2 ALD cases (64, 132). Deleterious mutation.
152990962 c.241C>G p.Leu81Val exon 1 VUS (X:152990962 C/G) frequency 2/109810 alleles.
152990964 c.244_245insCTGCGGCTC p.Leu81_Leu82insProAlaAla exon 1 Pathogenic, identified in 4 ALD cases (28, 33). Deleterious mutation. (Originally reported as: c.243-44insCCTGCGGCT)
152990969 c.248del p.Phe83Serfs*20 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152990970 c.249C>T p.Phe83Phe exon 1 Synonymous (X:152990970 C/T) frequency 49/130671 alleles..
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 5 ALD cases (33, 191, 220).
152990974 c.253dup p.Arg85Profs*110 exon 1 Pathogenic, identified in 20 ALD cases (33, 49, 60, 62, 119, 138, 155, 253, 266, 274). No detectable ALDP in patient cells (60).
152990974 c.253del p.Arg85Glyfs*18 exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
152990975 c.254G>T p.Arg85Leu exon 1 VUS (X:152990975 G/T).
152990977 c.256G>A p.Val86Ile exon 1 VUS (X:152990977 G/A).
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.
152990979 c.258C>T p.Val86Val exon 1 Synonymous (X:152990979 C/T) frequency 113/138493 alleles..
152990979 c.258C>G p.Val86Val exon 1 Synonymous (X:152990979 C/G).
152990985 c.264C>A p.Cys88* exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152990985 c.264C>G p.Cys88Trp exon 1 Pathogenic, identified in 3 ALD cases (63). No detectable ALDP in patient cells (63).
152990986 c.265C>T p.Arg89Trp exon 1 VUS (X:152990986 C/T).
152990987 c.266G>A p.Arg89Gln exon 1 VUS (X:152990987 G/A) frequency 2/21458 alleles.
152990989 c.268G>A p.Glu90Lys exon 1 Pathogenic, identified in 2 ALD cases (49).
152990989 c.268G>T p.Glu90* exon 1 Pathogenic, identified in a single ALD case (141). No detectable ALDP in patient cells (141).
152990991 c.270_71del p.Glu90Aspfs*104 exon 1 Pathogenic, identified in 2 ALD cases (93). Deleterious mutation.
152990995 c.274G>A p.Gly92Arg exon 1 Benign variant based on its frequency of 18/154166 alleles (X:152990995 G/A).
152990995 c.274_311del p.Gly92Hisfs*90 exon 1 Pathogenic, identified in 3 ALD cases (4, 158). Deleterious mutation.
152990996 c.275G>T p.Gly92Val exon 1 VUS (X:152990996 G/T) frequency 2/133112 alleles.
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 6 ALD cases (32, 105, 217). Deleterious mutation.
152991014 c.293C>T p.Ser98Leu exon 1 Pathogenic, identified in 13 ALD cases (7, 33, 48, 49, 58, 98, 243, 265). Normal ALDP level in patient cells (7), but non-functional.
152991014 c.293C>G p.Ser98Trp exon 1 Pathogenic, identified in 3 ALD cases (41).
152991015 c.294G>T p.Ser98Ser exon 1 Synonymous (X:152991015 G/T).
152991015 c.294_95insC p.Ala99Argfs*96 exon 1 Pathogenic, identified in a single ALD case (38). Deleterious mutation.
152991016 c.295_98dup p.Ala100Glyfs*96 exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
152991017 c.296C>A p.Ala99Asp exon 1 Likely pathogenic, identified in a single ALD case (48).
152991019 c.298del p.Ala100Profs*3 exon 1 Pathogenic, identified in a single ALD case (28). Deleterious mutation.
152991021 c.300C>G p.Ala100Ala exon 1 Synonymous (X:152991021 C/G).
152991022 c.301T>A p.Lys101Met exon 1 Likely pathogenic, identified in a single ALD case (33).
152991026 c.305T>A p.Val102Glu exon 1 Likely pathogenic, identified in a single ALD case (60).
152991030 c.309C>G p.Ser103Arg exon 1 Pathogenic, identified in 2 ALD cases (29, 53). Reduced ALDP in patient cells (53).
152991031 c.310C>T p.Arg104Cys exon 1 Pathogenic, identified in 16 ALD cases (13, 16, 33, 42, 62, 97, 125, 146, 191, 274). Reduced ALDP (35% of control cells) in patient cells (33, 97, 146) and deficient beta-oxidation (261).
152991032 c.311G>A p.Arg104His exon 1 Pathogenic, identified in 11 ALD cases (4, 32, 33, 47, 49, 132, 137, 234, 274).
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).
152991035 c.314C>T p.Thr105Ile exon 1 Pathogenic, identified in 2 ALD cases (7, 274). No detectable ALDP in patient cells (7).
152991040 c.319del p.Leu107Cysfs*91 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991041 c.320T>C p.Leu107Pro exon 1 Pathogenic, identified in 13 ALD cases (15, 178, 214).
152991041 c.320T>G p.Leu107Arg exon 1 Likely pathogenic, identified in a single ALD case (88).
152991042 c.321G>A p.Leu107Leu exon 1 Synonymous (X:152991042 G/A).
152991044 c.323C>A p.Ser108* exon 1 Pathogenic, identified in 4 ALD cases (33, 56, 60, 93). No detectable ALDP in patient cells (60).
152991044 c.[323C>A; 775C>T] p.[Ser108*; Arg259Trp] exon 1 Pathogenic, identified in a single ALD case (86). p.Ser108* is deleterious.
152991044 c.323C>T p.Ser108Leu exon 1 Pathogenic, identified in 14 ALD cases (33, 34, 53, 62, 90, 137, 156, 191, 235). Normal ALDP level in patient cells (53), but non-functional.
152991044 c.323C>G p.Ser108Trp exon 1 Pathogenic, identified in 3 ALD cases (7, 27, 53). Reduced ALDP in patient cells (7).
152991046 c.325del p.Val109Cysfs*89 exon 1 Pathogenic, identified in 3 ALD cases (32). Deleterious mutation.
152991047 c.326T>C p.Val109Ala exon 1 VUS (X:152991047 T/C) frequency 1/153725 alleles.
152991058 c.337delC p.Arg113Alafs*85 exon 1 Pathogenic, identified in 7 ALD cases (32, 49, 62, 141). No detectable ALDP in patient cells (49, 97, 141).
152991058 c.337C>T p.Arg113Cys exon 1 Pathogenic, identified in 6 ALD cases (32, 49). Normal ALDP level in patient cells (32, 49), but non-functional.
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 2 ALD cases (33, 53). 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 16 ALD cases (7, 29, 32, 33, 58, 145, 221, 263, 266, 274). Reduced ALDP in patient cells (7) and deficient beta-oxidation (261). Mutation affects protein-protein interaction (262).
152991067 c.346G>C p.Gly116Arg exon 1 Pathogenic, identified in 4 ALD cases (33, 239, 240, 266).
152991068 c.347_48delGAinsAT p.Gly116Asp exon 1 Likely pathogenic, identified in a single ALD case (120).
152991068 c.347G>A p.Gly116Glu exon 1 Pathogenic, identified in 3 ALD cases (57, 87, 88)
152991073 c.352delCT p.Leu118Glyfs*76 exon 1 Pathogenic, identified in a single ALD case (52). Deleterious mutation.
152991076 c.355del p.Ala119Profs*79 exon 1 Pathogenic, identified in 2 ALD cases (178). Deleterious mutation.
152991076 c.355G>T p.Ala119Ser exon 1 VUS (X:152991076 G/T) frequency 1/168250 alleles.
152991077 c.356C>A p.Ala119Asp exon 1 Pathogenic, identified in 2 ALD cases (33).
152991079 c.358C>G p.Arg120Gly exon 1 VUS (X:152991079 C/G) frequency 1/165442 alleles.
152991080 c.359G>A p.Arg120His exon 1 VUS (X:152991080 G/A).
152991080 c.359G>C p.Arg120Pro exon 1 Pathogenic, identified in 5 ALD cases (60). Normal ALDP level in patient cells (60), but non-functional.
152991089 c.368C>T p.Ala123Val exon 1 This was a sequence error in original sequence (18)
152991092 c.371G>C p.Arg124Pro exon 1 Likely pathogenic, identified in a single ALD case (33).
152991092 c.371G>A p.Arg124His exon 1 VUS (X:152991092 G/A) frequency 1/21546 alleles.
152991096 c.375_78del p.Lys125Asnfs*72 exon 1 Pathogenic, identified in a single ALD case (123). Deleterious mutation.
152991102 c.381G>A p.Pro127Pro exon 1 Synonymous (X:152991102 G/A).
152991102 c.381G>T p.Pro127Pro exon 1 Synonymous (X:152991102 G/T).
152991103 c.382C>T p.Arg128Trp exon 1 VUS (X:152991103 C/T).
152991104 c.383G>C p.Arg128Pro exon 1 VUS (X:152991104 G/C) frequency 3/171978 alleles.
152991104 c.383G>A p.Arg128Gln exon 1 VUS (X:152991104 G/A) frequency 3/193580 alleles.
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.
152991110 c.389T>G p.Phe130Cys exon 1 VUS (X:152991110 T/G) frequency 1/21683 alleles.
152991112 c.391G>C p.Gly131Arg exon 1 VUS (X:152991112 G/C) frequency 1/172406 alleles.
152991113 c.392G>T p.Gly131Val exon 1 Benign, based on its frequency of 14/175576 alleles (X:152991113 G/T).
152991116 c.395G>A p.Trp132* exon 1 Pathogenic, identified in 2 ALD cases (71, 94). 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 8 ALD patient (16, 32, 33, 49, 141). 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.407A>G p.Gln136Arg exon 1 VUS (X:152991128 A/G) frequency 1/172655 alleles
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 (32, 218). 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).
152991135 c.414C>T p.Leu138Leu exon 1 Synonymous (X:152991135 C/T).
152991141 c.420C>A p.Ile140Ile exon 1 Synonymous (X:152991141 C/A).
152991141 c.420C>T p.Ile140Ile exon 1 Synonymous (X:152991141 C/T).
152991142 c.421G>A p.Ala141Thr exon 1 Pathogenic, identified in 21 ALD cases (13, 59, 64, 88, 93, 111, 137, 174, 178, 220, 266).
152991143 c.422C>A p.Ala141Asp exon 1 Pathogenic, identified in 4 ALD cases (224, 273).
152991143 c.422C>T p.Ala141Val exon 1 Pathogenic, identified in 3 ALD cases (33, 266).
152991145 c.424del p.Leu142Serfs*56 exon 1 Pathogenic, identified in a single ALD case (125). Deleterious mutation.
152991145 c.424C>G p.Leu142Val exon 1 VUS (X:152991145 C/G) frequency 3/196447 alleles.
152991147 c.426C>T p.Leu142Leu exon 1 Synonymous (X:152991147 C/T).
152991148 c.427C>G p.Pro143Ala exon 1 Pathogenic, identified in 3 ALD cases (98).
152991148 c.427C>T p.Pro143Ser exon 1 Pathogenic, identified in 6 ALD cases (33, 34, 38, 49, 88, 228).
152991149 c.428C>A p.Pro143His exon 1 Pathogenic, identified in 2 ALD cases (58, 98). Normal ALDP level in patient cells (58), but non-functional.
152991149 c.428C>T p.Pro143Leu exon 1 Likely pathogenic, identified in a single ALD case (33).
152991153 c.432_46delinsCCC p.Thr145_Ser149delinsPro exon 1 Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58).
152991156 c.435C>G p.Thr145Thr exon 1 Synonymous (X:152991156 C/G).
152991157 c.436T>A p.Phe146Ile exon 1 Benign variant based on its frequency 30/202220 alleles (X:152991157 T/A).
152991157 c.436T>G p.Phe146Val exon 1 VUS (X:152991157 T/G) frequency 1/176235 alleles.
152991160 c.439G>A p.Val147Ile exon 1 VUS (X:152991160 G/A) frequency 2/176480 alleles.
152991160 c.439_41del p.Val147del exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991161 c.440T>G p.Val147Gly exon 1 Pathogenic, identified in a single ALD case32). Normal ALDP level in patient cells (32), but non-functional.
152991161 c.442_444delinsTGTTGA p.Asn148_Thr745delinsCys exon 1 Pathogenic, identified in 2 ALD cases (228). Deleterious mutation.
152991163 c.441_442dup p.Val147_Asn148insIle exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
152991163 c.442A>G p.Asn148Asp exon 1 Pathogenic, identified in 2 ALD cases (32, 86).
152991163 c.442A>T p.Asn148Tyr exon 1 Pathogenic, identified in 2 ALD cases (60, 266. Normal ALDP level in patient cells (60), but non-functional.
152991164 c.443A>G p.Asn148Ser exon 1 Pathogenic, identified in 16 ALD cases (7, 8, 24, 33, 38, 60, 93, 98, 158, 192, 252, 266). Normal ALDP level in patient cells (7), but deficient beta-oxidation in patient cells (259).
152991164 c.443A>T p.Asn148Ile exon 1 Status unknown (VUS), identified in ALD newborn screening (191).
152991167 c.446G>A p.Ser149Asn exon 1 Pathogenic, identified in 25 ALD cases (16, 32, 49, 97, 141, 146, 218). Reduced ALDP expression (77% of control cells) in patient cells (97).
152991168 c.447T>A p.Ser149Arg exon 1 Pathogenic, identified in 2 ALD cases (188, 231). Mutation affects targeting of ALDP in cells (188).
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 17 ALD cases (7, 13, 32, 33, 49, 52, 63, 88, 168, 250, 252, 263, 266). 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 (X:152991176 G/A) frequency 1/177452 alleles
152991176 c.455G>C p.Arg152Pro exon 1 Pathogenic, identified in 2 ALD cases (16, 32). Normal ALDP level in patient cells (32), but non-functional.
152991176 c.455G>T p.Arg152Leu exon 1 Pathogenic, identified in 6 ALD cases (32, 33, 49, 52, 58). Reduced ALDP expression in patient cells (32, 49).
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.
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).
152991192 c.471A>G p.Gln157Gln exon 1 Synonymous (X:152991192 A/G).
152991193 c.472C>G p.Leu158Val exon 1 VUS (X:152991193 C/G) frequency 2/177870 alleles.
152991194 c.473T>C p.Leu158Pro exon 1 Pathogenic, identified in 2 ALD cases (33, 125).
152991196 c.475G>A p.Ala159Thr exon 1 VUS (X:152991196 G/A) frequency 2/199788 alleles.
152991197 c.476C>G p.Ala159Gly exon 1 VUS (X:152991197 C/G) frequency 6/177941 alleles.
152991197 c.476_99del p.Ala159_Leu166del exon 1 Pathogenic, identified in 2 ALD cases (33, 96).
152991198 c.477C>T p.Ala159Ala exon 1 Synonymous (X:152991198 C/T).
152991200 c.479T>C p.Leu160Pro exon 1 Pathogenic, identified in 4 ALD cases (70, 111, 158, 266).
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.
152991204 c.483G>A p.Ser161Ser exon 1 Synonymous (X:152991204 G/A).
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 Pathogenic, identified in 2 ALD cases (243, 268).
152991209 c.488G>A p.Arg163His exon 1 Pathogenic, identified in 5 ALD cases (16, 191, 266, 274). No detectable ALDP in patient cells (32).
152991209 c.488G>T p.Arg163Leu exon 1 Pathogenic, identified in 2 ALD cases (33, 116).
152991209 c.488G>C p.Arg163Pro exon 1 Pathogenic, identified in 9 ALD cases (33, 41, 49, 57).
152991214 c.493C>T p.Arg165Cys exon 1 VUS (X:152991214 C/T) frequency 3/178141 alleles.
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.
152991219 c.498G>T p.Leu166Leu exon 1 Synonymous (X:152991219 G/T).
152991225 c.504C>G p.Ala168Ala exon 1 Synonymous (X:152991225 C/G).
152991227 c.506A>C p.His169Pro exon 1 Likely pathogenic, identified in a single ALD case (145).
152991228 c.507C>T p.His169His exon 1 Synonymous (X:152991228 C/T).
152991229 c.508G>A p.Ala170Thr exon 1 VUS (X:152991229 G/A) frequency 1/178118 alleles.
152991231 c.510delC p.Tyr171Thrfs*27 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991232 c.511T>C p.Tyr171His exon 1 VUS (X:152991232 T/C) frequency 1/178233 alleles.
152991233 c.512A>C p.Tyr171Ser exon 1 Likely pathogenic, identified in a single ALD case (32).
152991235 c.514C>T p.Arg172Cys exon 1 VUS (X:152991235 C/T) frequency 1/178298 alleles.
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 VUS (X:152991236 G/A) frequency 5/200163 alleles.
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 Likely pathogenic, identified in a single ALD case (33).
152991241 c.520T>G p.Tyr174Asp exon 1 Pathogenic, identified in 3 ALD cases (8, 15).
152991242 c.521A>G p.Tyr174Cys exon 1 Pathogenic, identified in 36 ALD cases (29, 32, 33, 47, 49, 60, 62, 88, 93, 120, 137, 182, 239, 266). 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.522_24del p.Phe175del exon 1 Pathogenic, identified in a single ALD case (53). Reduced ALDP expression in patient cells (53).
152991245 c.524_26del p.Phe175del exon 1 Likely pathogenic, identified in a single ALD case (32). Likely deleterious mutation.
152991247 c.526T>A p.Ser176Thr exon 1 VUS (X:152991247 T/A) frequency 1/178394 alleles
152991250 c.529C>A p.Gln177Lys exon 1 Likely pathogenic, identified in a single ALD case (93).
152991250 c.529C>T p.Gln177* exon 1 Pathogenic, identified in 15 ALD cases (29, 32, 33, 49, 60, 62, 86, 88, 93, 137, 141, 266). Deleterious mutation. No detectable ALDP expression in patient cells (32, 49, 60, 141).
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 a single ALD case (125). Deleterious mutation.
152991256 c.535A>T p.Thr179Ser exon 1 VUS (X:152991256 A/T) frequency 1/178372 alleles
152991258 c.537_44dup p.Arg182Profs*19 exon 1 Pathogenic, identified in 2 ALD cases (49, 266). Deleterious mutation.
152991258 c.537C>T p.Thr179Thr exon 1 Synonymous (X:152991258 C/T).
152991259 c.538T>C p.Tyr180His exon 1 VUS (X:152991259 T/C).
152991261 c.540_41insT p.Tyr181Leufs*14 exon 1 Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP expression in patient cells (60).
152991262 c.541_42del p.Tyr181Profs*13 exon 1 Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP expression in patient cells (7).
152991263 c.542A>T p.Tyr181Phe exon 1 VUS (X:152991263 A/T) frequency 1/178358 alleles
152991263 c.542A>G p.Tyr181Cys exon 1 Pathogenic, identified in ALD 10 cases (7, 32, 49, 52, 63, 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, 32, 146, 250). Deleterious mutation. No detectable ALDP in patient cells (32, 146).
152991264 c.543C>G p.Tyr181* exon 1 Pathogenic, identified in 3 ALD cases (101). Deleterious mutation.
152991266 c.545G>C p.Arg182Pro exon 1 Pathogenic, identified in 10 ALD cases (13, 33, 59, 64, 132, 137).
152991269 c.548T>G p.Val183Gly exon 1 Likely pathogenic, identified in a single ALD case (33).
152991276 c.555C>A p.Asn185Lys exon 1 VUS (X:152991276 C/A) frequency 1/178299 alleles.
152991282 c.561C>T p.Asp187Asp exon 1 Synonymous (X:152991282 C/T).
152991283 c.562G>A p.Gly188Arg exon 1 VUS (X:152991283 G/A) frequency 5/178202 alleles.
152991284 c.563G>C p.Gly188Ala exon 1 VUS (X:152991284 G/C) frequency 1/178207 alleles.
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 11 ALD cases (29, 33, 60, 191, 266, 274). Normal ALDP level in patient cells (60), but non-functional.
152991287 c.566G>A p.Arg189Gln exon 1 Likely pathogenic, identified in a single ALD case (33).
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 VUS (X:152991293 G/A) frequency 3/199890 alleles.
152991298 c.577C>T p.Pro193Ser exon 1 VUS (X:152991298 C/T) frequency 1/178086 alleles.
152991301 c.580G>A p.Asp194Asn exon 1 Pathogenic, identified in 2 ALD cases (16, 58). Affects ALDP stability in patient cells (58).
152991301 c.580G>C p.Asp194His exon 1 Pathogenic, identified in 8 ALD cases (32, 58, 97, 146). Affects ALDP stability (60% of control cells (97)) in patient cells (58, 97, 146) and causes deficient beta-oxidation in fibroblasts (259).
152991302 c.581_89del p.Asp194_Leu197delinsVal exon 1 Likely pathogenic, identified in a single ALD case (51).
152991303 c.582C>G p.Asp194Glu exon 1 Likely pathogenic, identified in a single ALD case (32).
152991304 c.583C>T p.Gln195* exon 1 Pathogenic, identified in 2 ALD cases (49, 274). 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 10 ALD cases (33, 207, 243, 266).
152991315 c.594G>A p.Thr198Thr exon 1 Synonymous (X:152991315 G/A).
152991316 c.595G>A p.Glu199Lys exon 1 Pathogenic, identified in 2 ALD cases (33, 100).
152991319 c.598G>A p.Asp200Asn exon 1 Pathogenic, identified in 2 ALD cases (24, 100).
152991319 c.598delC p.Asp200Thrfs*16 exon 1 Pathogenic, identified in a single ALD case (90). Deleterious mutation.
152991320 c.599A>T p.Asp200Val exon 1 Likely pathogenic, identified in a single ALD case (7).
152991321 c.600delC p.Asp200Glufs*16 exon 1 Pathogenic, identified in a single ALD case (90). Deleterious mutation.
152991321 c.600C>T p.Asp200Asp exon 1 Synonymous (X:152991321 C/T).
152991322 c.601G>A p.Val201Met exon 1 Benign variant based on 34/199299 alleles (X:152991322 G/A).
152991333 c.612del p.Phe204Leufs*12 exon 1 Pathogenic, identified in a single ALD case (145). Deleterious mutation.
152991335 c.614C>T p.Ala205Val exon 1 VUS (X:152991335 C/T).
152991335 c.614C>A p.Ala205Glu exon 1 Pathogenic, identified in 6 ALD cases (33, 235, 250, 266).
152991335 c.614_622dup p.Ala205_Ser207dup exon 1 Pathogenic, identified in 2 ALD cases (29, 49). (Originally reported as c.622_23insCGGCCTCTG).
152991336 c.615G>A p.Ala205Ala exon 1 Synonymous (X:152991336 G/A).
152991338 c.617_618delinsT p.Ala206Valfs*10 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152991339 c.621_900+384del664 p.Val208Trpfs*35 exon 1 Pathogenic, identified in 6 ALD patient (32, 49, 141, 218). Deleterious mutation. No detectable ALDP expression in patient cells (32, 49, 141).
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).
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).
152991349 c.628C>T p.His210Tyr exon 1 Probably pathogenic, identified in ALD newborn screening (2 cases) (191).
152991352 c.631C>T p.Leu211Phe exon 1 Probably pathogenic, identified in ALD newborn screening (238).
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.
152991354 c.633C>A p.Leu211Leu exon 1 Synonymous (X:152991354 C/A).
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).
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).
152991370 c.649A>G p.Lys217Glu exon 1 Pathogenic, identified in 6 ALD cases (32, 48, 49, 93, 167). Normal ALDP level in patient cells (49), but non-functional (48).
152991370 c.649A>T p.Lys217* exon 1 Pathogenic, identified in a single ALD case (88). Deleterious mutation.
152991373 c.652C>A p.Pro218Thr exon 1 Pathogenic, identified in 6 ALD cases (29, 32, 49, 145). 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 3 ALD cases (98). Unclear which of the variants is pathogenic.
152991374 c.653C>G p.Pro218Arg exon 1 Likely pathogenic, identified in a single ALD case (175).
152991374 c.653C>T p.Pro218Leu exon 1 Likely pathogenic, identified in a single ALD case (33).
152991380 c.659T>C p.Leu220Pro exon 1 Pathogenic, identified in 30 ALD cases (16, 32, 97, 141, 146, 205, 218, 266). Reduced (22% of control cells) ALDP in patient cells (32, 97, 141, 146).
152991381 c.660G>A p.Leu220Leu exon 1 Synonymous (X:152991381 G/A).
152991381 c.660G>T p.Leu220Leu exon 1 Synonymous (X:152991381 G/T).
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 3 ALD cases (98). Unclear which of the variants is pathogenic.
152991385 c.664G>A p.Val222Met exon 1 VUS (X:152991385 G/A) frequency 3/176462 alleles.
152991385 c.664_70dup p.Val224Glyfs*79 exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
152991388 c.667G>C p.Ala223Pro exon 1 VUS (X:152991388 G/C) frequency 2/198242 alleles.
152991389 c.668C>T p.Ala223Val exon 1 VUS (X:152991389 C/T) frequency 2/176342 alleles.
152991389 c.668C>A p.Ala223Asp exon 1 Pathogenic, identified in 2 ALD cases (33, 113).
152991392 c.671T>G p.Val224Gly exon 1 Pathogenic, identified in 2 ALD cases (33, 49).
152991394 c.673A>G p.Thr225Ala exon 1 VUS (X:152991394 A/G) frequency 1/176356 alleles
152991395 c.674C>T p.Thr225Ile exon 1 VUS (X:152991395 C/T) frequency 1/176348 alleles.
152991398 c.677del p.Tyr227Thrfs*109 exon 1 Pathogenic, identified in 3 ALD cases (29, 33). Deleterious mutation.
152991400 c.679T>C p.Tyr227His exon 1 VUS (X:152991400 T/C) frequency 2/176195 alleles.
152991402 c.681C>G p.Tyr227* exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
152991402 c.681C>A p.Tyr227* exon 1 Pathogenic, identified in a single ALD case (189). Deleterious mutation and biochemically confirmed.
152991404 c.683C>A p.Thr228Asn exon 1 VUS (X:152991404 C/A) frequency 1/176079 alleles
152991405 c.684_85insTACAC p.Leu229Tyrfs*109 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
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 Reported in ALD male (32) as pathogenic, but considering its frequency (61/201001 alleles (X:152991412 C/T)) this is a benign variant.
152991413 c.692G>A p.Arg231Gln exon 1 VUS (X:152991413 G/A) frequency 2/175656 alleles.
152991413 c.692_94delinsC p.Arg231Profs*69 exon 1 Pathogenic, identified in 3 ALD cases (33, 172, 250). Deleterious mutation.
152991414 c.693_94del p.Ala232Glyfs*68 exon 1 Pathogenic, identified in 2 ALD cases (3, 33). Deleterious mutation. No detectable ALDP expression in patient cells (33).
152991416 c.695_696del p.Ala232Glyfs*68 exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP expression in patient cells (58).
152991416 c.695_96insG p.Ala233Glyfs*68 exon 1 Pathogenic, identified in a single ALD case (96). Deleterious mutation.
152991417 c.696_706del11 p.Ala233Trpfs*64 exon 1 Pathogenic, identified in a single ALD case (100). Deleterious mutation.
152991417 c.696G>T p.Ala232Ala exon 1 Synonymous (X:152991417 G/T) frequency 1/175446 alleles.
152991417 c.696G>A p.Ala232Ala exon 1 Synonymous (X:152991417 G/A) frequency 1/175276 alleles.
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 Status unknown (VUS), identified in ALD newborn screening (191).
152991422 c.701G>A p.Arg234His exon 1 VUS (X:152991422 G/A) frequency 5/197276 alleles.
152991427 c.706C>T p.Arg236Cys exon 1 Pathogenicity of the variant p.Arg236Cys is unclear (X:152991427 C/T) frequency 2/175366 alleles). It was also identified in an ALD patient (33), but in combination with a true pathogenic mutation, p.Lys16*
152991427 c.706_09del p.Arg236Glufs*99 exon 1 Pathogenic, identified in a single ALD case (49). Deleterious mutation.
152991428 c.707G>A p.Arg236His exon 1 Benign, based on its frequency of 260/201001 alleles (X:152991428 G/A).
152991431 c.710G>T p.Gly237Val exon 1 VUS (X:152991431 G/T) frequency 1/175446 alleles.
152991433 c.712G>A p.Ala238Thr exon 1 VUS (X:152991433 G/A) frequency 1/175276 alleles.
152991435 c.714C>T p.Ala238Ala exon 1 Synonymous (X:152991435 C/T).
152991436 c.715G>A p.Gly239Ser exon 1 VUS (X:152991436 G/A) frequency 1/175039 alleles.
152991444 c.723del p.Trp242Glyfs*94 exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152991445 c.724_28del p.Trp242Leufs*57 exon 1 Pathogenic, identified in a single ALD case (3). Deleterious mutation.
152991446 c.725G>A p.Trp242* exon 1 Pathogenic, identified in a single ALD case (96). Deleterious mutation.
152991447 c.726G>A p.Trp242* exon 1 Pathogenic, identified in 6 ALD cases (15, 33, 49, 59, 64, 132). Deleterious mutation. No detectable ALDP in patient cells (49).
152991451 c.730delT p.Ser244Argfs*92 exon 1 Pathogenic, identified in a single ALD casein a single ALD case (33). Deleterious mutation.
152991451 c.730_31delinsGAGA p.Ser244Glufs*93 exon 1 Pathogenic, identified in 4 ALD cases (37). Deleterious mutation.
152991452 c.731C>T p.Ser244Leu exon 1 Benign, confirmed by demonstration of normal C26:0-lysoPC levels in plasma (32).
152991453 c.732G>A p.Ser244Ser exon 1 Synonymous (X:152991453 G/A).
152991455 c.734C>A p.Ala245Asp exon 1 Pathogenic, identified in 2 ALD cases (32, 141). Normal ALDP level in patient cells (32, 141), but non-functional (32, 141).
152991456 c.735C>T p.Ala245Ala exon 1 Synonymous (X:152991456 C/T).
152991460 c.739G>A p.Ala247Thr exon 1 VUS (X:152991460 G/A).
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 VUS (X:152991463 G/A) frequency 7/194293 alleles.
152991463 c.742_45del p.Gly248Serfs*87 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991469 c.748_59del p.Val250_Leu253del exon 1 Likely pathogenic, identified in a single ALD case (33). Likely deleterious mutation.
152991470 c.749_51del p.Val251del exon 1 Likely pathogenic, identified in a single ALD case (33). Likely deleterious mutation.
152991471 c.750G>A p.Val250Val exon 1 Synonymous (X:152991471 G/A).
152991473 c.752T>A p.Val251Glu exon 1 Likely pathogenic, identified in a single ALD case (44).
152991478 c.757C>G p.Leu253Val exon 1 Benign, based on its frequency of 156/194759 alleles (X:152991478 C/G).
152991478 c.757_65delinsGAGG p.Leu253Glufs*46 exon 1 Pathogenic, identified in a single ALD case (60). Deleterious mutation.
152991481 c.760dupA p.Thr254Asnfs*47 exon 1 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
152991482 c.760A>G p.Thr254Ala exon 1 Pathogenic, identified in 3 ALD cases (33, 58). 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 10 ALD cases (15, 33, 105, 209, 235, 250, 274).
152991484 c.763G>A p.Ala255Thr exon 1 VUS (X:152991484 G/A).
152991487 c.766_769dup p.Val257Glufs*45 exon 1 Pathogenic, identified in 2 ALD case (274). Deleterious mutation.
152991489 c.768C>T p.Asn256Asn exon 1 Synonymous (X:152991489 C/T).
152991490 c.769G>A p.Val257Met exon 1 VUS (X:152991490 G/A) frequency 1/163453 alleles
152991494 c.773T>C p.Leu258Pro exon 1 Likely pathogenic, identified in a single ALD case (33).
152991496 c.775C>T p.Arg259Trp exon 1 Pathogenicity of the variant p.Arg259Trp is unclear (X:152991496 C/T) frequency 2/157411 alleles. It was identified in an ALD patient (167), but in combination with a true pathogenic mutation, p.Ser108*.
152991497 c.776G>A p.Arg259Gln exon 1 VUS (X:152991497 G/A).
152991499 c.778G>A p.Ala260Thr exon 1 VUS (X:152991499 G/A) frequency 1/156948 alleles
152991505 c.784_785del p.Ser262Alafs*38 exon 1 Pathogenic, identified in 2 ALD cases (33, 235). Deleterious mutation.
152991506 c.785_91del p.Ser262Cysfs*72 exon 1 Pathogenic, identified in 4 ALD cases (16). Deleterious mutation.
152991506 c.785C>A p.Ser262* exon 1 Pathogenic, identified in a single ALD case (120). Deleterious mutation.
152991506 c.785C>G p.Ser262Trp exon 1 Pathogenic, identified in 2 ALD cases (32, 200).
152991508 c.787C>T p.Pro263Ser exon 1 Likely pathogenic, identified in a single ALD case (33).
152991509 c.788C>T p.Pro263Leu exon 1 Pathogenic, identified in a single ALD case (7). Affects ALDP stability in patient cells (7).
152991511 c.790A>T p.Lys264* exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991511 c.790A>C p.Lys264Gln exon 1 VUS (X:152991511 A/C) frequency 1/21836 alleles
152991517 c.796G>A p.Gly266Arg exon 1 Pathogenic, identified in 39 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). 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 4 ALD cases (49, 96, 266).
152991520 c.799G>A p.Glu267Lys exon 1 Likely pathogenic, identified in a single ALD case (51).
152991520 c.799G>T p.Glu267* exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991520 c.799del p.Glu267Serfs*69 exon 1 Pathogenic, identified in a single ALD case (15). Deleterious mutation.
152991530 c.809C>T p.Ala270Val exon 1 VUS (X:152991530 C/T) frequency 5/165970 alleles.
152991532 c.811G>A p.Glu271Lys exon 1 Likely pathogenic, identified in a single ALD case (24).
152991536 c.815_17del p.Glu272del exon 1 Pathogenic, identified in 3 ALD cases (33, 191).
152991539 c.818C>A p.Ala273Glu exon 1 Pathogenic, identified in a single ALD case (58). Normal ALDP level in patient cells (58), but non-functional.
152991540 c.819G>A p.Ala273Ala exon 1 Synonymous (X:152991540 G/A).
152991541 c.820C>T p.Arg274Trp exon 1 VUS (X:152991541 C/T). Identified in 3/138261 alleles.
152991541 c.[820C>T; 838C>T] p.[Arg274Trp; Arg280Cys] exon 1 Likely pathogenic, identified in a single ALD case (49). p.Arg274Trp is most likely benign and p.Arg280Cys is pathogenic.
152991542 c.821G>A p.Arg274Gln exon 1 VUS (X:152991542 G/A) frequency 4/157579 alleles.
152991542 c.821G>C p.Arg274Pro exon 1 Status unknown, no clinical info presented (225)
152991544 c.823C>T p.Arg275Trp exon 1 Pathogenic, identified in 21 ALD cases (extended family screening), confirmed by biochemical testing (181, 243, 274).
152991545 c.824G>C p.Arg275Pro exon 1 Likely pathogenic, identified in a single ALD case (200).
152991547 c.826A>G p.Lys276Glu exon 1 Pathogenic, identified in 2 ALD cases (22, 86). Normal ALDP level in patient cells (22), but non-functional.
152991549 c.828_29insAAT p.Gly277_Glu278insAsn exon 1 Pathogenic, identified in 2 ALD cases (15, 158).
152991550 c.829G>A p.Gly277Arg exon 1 Pathogenic, identified in 5 ALD cases (15, 33, 60, 88). Normal ALDP level in patient cells (60), but non-functional.
152991550 c.829G>C p.Gly277Arg exon 1 Pathogenic, identified in 5 ALD cases (27, 60, 232). Normal ALDP level in patient cells (60), but non-functional.
152991550 c.829G>T p.Gly277Trp exon 1 Pathogenic, identified in 4 ALD cases (13, 27, 200, 239).
152991551 c.830G>A p.Gly277Glu exon 1 Pathogenic, identified in 2 ALD cases (33, 191).
152991553 c.832G>A p.Glu278Lys exon 1 VUS (X:152991553 G/A).
152991553 c.832G>T p.Glu278* exon 1 Pathogenic, identified in 3 ALD cases (32, 58, 218). Deleterious mutation. No detectable ALDP expression in patient cells (58).
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).
152991558 c.837G>A p.Leu279Leu exon 1 Synonymous (X:152991558 G/A).
152991559 c.838C>A p.Arg280Ser exon 1 VUS (X:152991559 C/A).
152991559 c.838C>T p.Arg280Cys exon 1 Pathogenic, identified in 17 ALD cases (32, 33, 50, 60, 191, 193, 266, 274). 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 Status unknown (VUS), identified in ALD newborn screening (2 siblings) (191).
152991560 c.839G>T p.Arg280Leu exon 1 Pathogenic, identified in 2 ALD cases (55, 93).
152991562 c.841T>C p.Tyr281His exon 1 Likely pathogenic, identified in a single ALD case (178).
152991564 c.843C>A p.Tyr281* exon 1 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152991568 c.847C>T p.His283Tyr exon 1 Pathogenic, identified in 5 ALD cases (32, 141). Affects ALDP stability in patient cells (32, 141).
152991568 c.847C>G p.His283Asp exon 1 Pathogenic, identified in 6 ALD cases (59, 64, 93, 132, 137, 266).
152991569 c.848A>G p.His283Arg exon 1 Pathogenic, identified in 7 ALD cases (89, 93, 173).
152991572 c.851C>A p.Ser284* exon 1 Pathogenic, identified in a single ALD case (32). Deleterious mutation. No detectable ALDP expression in patient cells (32).
152991572 c.851C>G p.Ser284Trp exon 1 Status unknown (VUS), identified in ALD newborn screening (191).
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 Status unknown (VUS), identified in ALD newborn screening (2 siblings) (191).
152991574 c.853C>T p.Arg285Cys exon 1 Likely pathogenic, identified in a single ALD case (267).
152991574 c.853C>G p.Arg285Gly exon 1 Likely pathogenic, identified in a single ALD case (145).
152991575 c.854G>C p.Arg285Pro exon 1 Pathogenic, identified in 2 ALD cases (27, 49).
152991575 c.854G>A p.Arg285His exon 1 Status unknown, identified in a clinically affected female, but with normal VLCFA (further testing ongoing). And as (X:152991575 G/A) frequency 2/143709 alleles.
152991580 c.859G>T p.Val287Leu exon 1 VUS (X:152991580 G/T).
152991590 c.869del p.Ser290Trpfs*46 exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
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 a single ALD case (49). Deleterious mutation. No detectable ALDP expression in patient cells (49).
152991592 c.871G>A p.Glu291Lys exon 1 Pathogenic, identified in 8 ALD cases (5, 58, 59, 60, 64, 132, 137, 266). No detectable ALDP expression in patient cells (58, 60).
152991593 c.872A>G p.Glu291Gly exon 1 Pathogenic, identified in 4 ALD cases (145, 263).
152991594 c.873G>C p.Glu291Asp exon 1 Pathogenic, identified in 2 ALD cases (22, 33). No detectable ALDP expression in patient cells (22, 33).
152991595 c.874_76delGAG p.Glu292del exon 1 Pathogenic, identified in 25 ALD cases (15, 22, 24, 31, 32, 33, 49, 178, 250, 257). No detectable ALDP expression in patient cells (22, 32, 33, 49). (Also reported as p.Glu291del).
152991595 c.874G>A p.Glu292Lys exon 1 Pathogenic, identified in 2 ALD cases (184).
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 3 ALD cases (7, 32, 191).
152991602 c.881C>T p.Ala294Val exon 1 Likely pathogenic, identified in a single ALD case (33).
152991603 c.882_883insGC p.Phe295Alafs*42 exon 1 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
152991606 c.885delinsTA p.Tyr296Ilefs*5 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991607 c.886_99del14 p.Tyr296Glyfs*100 exon 1 Pathogenic, identified in a single ALD case (27). Deleterious mutation.
152991607 c.886T>C p.Tyr296His exon 1 Likely pathogenic, identified in a single ALD case (33).
152991608 c.887A>G p.Tyr296Cys exon 1 Pathogenic, identified in 30ALD cases (24, 33, 49, 52, 59, 62, 64, 88, 100, 115, 125, 132, 137, 235, 266). 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).
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 6 ALD cases (32, 33, 218, 253).
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.893G>A p.Gly298Asp exon 1 Pathogenic, identified in 6 ALD cases (29, 38, 58, 125). No detectable ALDP expression in patient cells (58).
152991614 c.893G>T p.Gly298Val exon 1 Likely pathogenic, identified in a single ALD case (33).
152991614 c.893_94delinsT p.Gly298Valfs*38 exon 1 Pathogenic, identified in 2 ALD cases (53, 84). Deleterious mutation. No detectable ALDP expression in patient cells (53).
152991614 c.893_894insG p.His299Alafs*2 exon 1 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152991616 c.895C>T p.His299Tyr exon 1 Benign, based on frequency 25/116669 alleles (X:152991616 C/T).
152991617 c.896A>G p.His299Arg exon 1 Benign, confirmed by biochemical testing (normal plasma VLCFA and C26:0-lysoPC) (32).
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 3 ALD cases (33, 100, 117). Deleterious mutation.
152991623 c.900+2T>C p.Val301fs*? IVS 1 Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided.
152991633 c.900+12T>A IVS 1 VUS (X:152991633 T/A) frequency 1/76302 alleles.
152991648 c.900+27G>A IVS 1 VUS (X:152991648 G/A) frequency 9/88236 alleles.
152991651 c.900+30G>A IVS 1 VUS (X:152991651 G/A) frequency 10/87692 alleles.
152994671 c.901-16C>T IVS 1 Benign, based on its frequency of 1567/199361 alleles (X:152994671 C/T).
152994677 c.901-10C>T IVS 1 Benign, based on its frequency of 773/204021 alleles (X:152994677 C/T).
152994678 c.901-9C>A IVS 1 VUS (X:152994678 C/A) frequency 1/177868 alleles.
152994682 c.901-5C>T IVS 1 Benign, based on its frequency of 47/204461 alleles (X:152994682 C/T).
152994682 c.901-5C>A p.Val301fs*? IVS 1 Pathogenic, identified in 3 ALD cases (218). Affects slicing of exon 2.
152994683 c.901-4G>A IVS 1 VUS (X:152994683 G/A) frequency 3/178069 alleles.
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>A p.Glu302Glu exon 2 Synonymous (X:152994692 G/A).
152994692 c.906G>C p.Glu302Asp exon 2 Likely pathogenic, identified in a single ALD case (137).
152994696 c.910G>A p.Ala304Thr exon 2 VUS (X:152994696 G/A) frequency 2/178390 alleles.
152994696 c.910del p.Ala304Profs*32 exon 2 Pathogenic, identified in a single ALD case (84). Deleterious mutation.
152994699 c.913C>T p.Leu305Leu exon 2 VUS (X:152994699 C/T) frequency 2/178390 alleles
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, 63, 127, 228, 266). Deleterious mutation.
152994707 c.921G>A p.Gln307Gln exon 2 Synonymous (X:152994707 G/A).
152994708 c.922C>T p.Arg308Cys exon 2 VUS (X:152994708 C/T) frequency 4/200081 alleles.
152994709 c.923G>A p.Arg308His exon 2 VUS (X:152994709 G/A) frequency 5/178473 alleles.
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.
152994722 c.936C>G p.Asp312Glu exon 2 VUS (X:152994722 C/G).
152994723 c.937delC p.Leu313Trpfs*23 exon 2 Pathogenic, identified in 3 ALD cases (59, 64, 132). Deleterious mutation.
152994724 c.938T>C p.Leu313Pro exon 2 Pathogenic, identified in 3 ALD cases (33, 88, 90).
152994726 c.940G>C p.Ala314Pro exon 2 Likely pathogenic, identified in a single ALD case (93).
152994729 c.943del p.Ser315Argfs*21 exon 2 Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58).
152994730 c.944C>T p.Ser315Leu exon 2 VUS (X:152994730 C/T) frequency 2/178647 alleles.
152994730 c.944C>A p.Ser315* exon 2 Pathogenic, identified in a single ALD case (49). Deleterious mutation.
152994731 c.945G>A p.Ser315Ser exon 2 Synonymous (X:152994731 G/A).
152994733 c.947A>C p.Gln316Pro exon 2 Pathogenic, identified in 2 ALD cases (129).
152994739 c.953A>G p.Asn318Ser exon 2 VUS (X:152994739 A/G) frequency 1/178710 alleles
152994750 c.964C>A p.Leu322Met exon 2 VUS (X:152994750 C/A) frequency 1/178734 alleles.
152994751 c.965T>C p.Leu322Pro exon 2 Pathogenic, identified in 4 ALD cases (26, 33, 62, 135).
152994753 c.967G>T p.Glu323* exon 2 Pathogenic, identified in a single ALD case (225). Deleterious mutation.
152994754 c.968A>T p.Glu323Val exon 2 VUS (X:152994754 A/T) frequency 1/178740 alleles.
152994756 c.970C>T p.Arg324Cys exon 2 Pathogenic, identified in 3 ALD cases (191, 200).
152994757 c.971G>A p.Arg324His exon 2 VUS (X:152994757 G/A).
152994760 c.974T>C p.Leu325Pro exon 2 Pathogenic, identified in 3 ALD cases (33, 125).
152994763 c.977G>A p.Trp326* exon 2 Pathogenic, identified in 3 ALD cases (2, 60, 154). Deleterious mutation.
152994763 c.977_983del p.Trp326Leufs*8 exon 2 Pathogenic, identified in a single ALD case (225). Deleterious mutation.
152994764 c.978G>A p.Trp326* exon 2 Pathogenic, identified in a single ALD case (100). 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).
152994771 c.985A>C p.Met329Leu exon 2 VUS (X:152994771 A/C) frequency 1/178746 alleles
152994772 c.986T>C p.Met329Thr exon 2 VUS (X:152994772 T/C) frequency 2/178750 alleles
152994772 c.986T>G p.Met329Arg exon 2 Likely pathogenic, identified in a single ALD case (33).
152994774 c.988_1005del p.Leu330_Met335del exon 2 Pathogenic, identified in 2 ALD cases (33, 274). Deleterious mutation.
152994777 c.991G>A p.Glu331Lys exon 2 Likely pathogenic, identified in a single ALD case (33).
152994777 c.991G>T p.Glu331* exon 2 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
152994780 c.994C>T p.Gln332* exon 2 Pathogenic, identified in 3 ALD cases (63, 165, 266). Deleterious mutation. No detectable ALDP expression in patient cells (63).
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).
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 Likely pathogenic, identified in a single ALD case (33).
152994797 c.1011T>A p.Tyr337* exon 2 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
152994800 c.1014G>A p.Val338Val exon 2 Synonymous (X:152994800 G/A).
152994801 c.1015T>C p.Trp339Arg exon 2 Likely pathogenic, identified in a single ALD case (38).
152994801 c.1015T>G p.Trp339Gly exon 2 Pathogenic, identified in 3 ALD cases (186, , 247).
152994802 c.1016G>C p.Trp339Ser exon 2 Likely pathogenic, identified in a single ALD case (145).
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).
152994806 c.1020C>T p.Ser340Ser exon 2 Synonymous (X:152994806 C/T).
152994807 c.1021G>A p.Ala341Thr exon 2 VUS (X:152994807 G/A) frequency 1/178613 alleles.
152994807 c.1021G>T p.Ala341Ser exon 2 VUS (X:152994807 G/T) frequency 9/178613 alleles.
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 Status unknown (VUS), identified in ALD newborn screening (191).
152994813 c.1027G>A p.Gly343Ser exon 2 Pathogenic, identified in 2 ALD cases (63, 165).
152994814 c.1028G>A p.Gly343Asp exon 2 Pathogenic, identified in 3 ALD cases (33, 49, 203).
152994814 c.1028G>T p.Gly343Val exon 2 Pathogenic, identified in 20 ALD cases (59, 64, 93, 108, 132, 137, 145, 174, 206, 263).
152994817 c.1031T>C p.Leu344Pro exon 2 Likely pathogenic, identified in a single ALD case (33).
152994822 c.1036A>G p.Met346Val exon 2 Status unknown (VUS), identified in ALD newborn screening (191).
152994831 c.1045del p.Val349Serfs*17 exon 2 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
152994833 c.1047C>A p.Val349Val exon 2 Synonymous (X:152994833 C/A).
152994836 c.1050del p.Ile351Serfs*15 exon 2 Pathogenic, identified in a single ALD case (32). Deleterious mutation.
152994854 c.1068C>T p.Gly356Gly exon 2 Synonymous (X:152994854 C/T).
152994855 c.1069_70delTinsGCC p.Tyr357Alafs*10 exon 2 Pathogenic, identified in 2 ALD cases (38). Deleterious mutation.
152994858 c.1072T>C p.Ser358Pro exon 2 Benign variant (X:152994858 T/C) frequency 3/177946 alleles, 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.
152994862 c.1076_77delAG p.Glu359Argfs*41 exon 2 Pathogenic, identified in 2 ALD cases (37, 145). Deleterious mutation.
152994864 c.1078_1080delinsC p.Ser360Argfs*40 exon 2 Pathogenic, identified in a single ALD case (250). Deleterious mutation.
152994865 c.1079C>G p.Ser360* exon 2 Pathogenic, identified in 2 ALD cases (33). Deleterious mutation.
152994868 c.1081+1G>T p.Asp361fs*? IVS 2 Pathogenic, identified in 2 ALD cases (32). Deleterious mutation.
152994872 c.1081+5G>T p.Asp361fs*? IVS 2 Pathogenic, identified in 2 ALD cases (32). Deleterious mutation.
152994872 c.1081+5G>C p.Asp361fs*? IVS 2 Pathogenic, identified in a single ALD case (104). Deleterious mutation. No detectable ALDP expression in patient cells (104).
152994875 c.1081+8C>T IVS 2 VUS (X:152994875 C/T) frequency 1/177225 alleles.
153001534 c.1082-32>delC IVS 2 Benign, based on its frequency of 82/193725 alleles (X:153001534 GC/G)
153001535 c.1082-31C>T IVS 2 VUS (X:153001535 C/T) frequency 3/171145 alleles.
153001539 c.1082-27G>A IVS 2 VUS (X:153001539 G/A) frequency 4/172834 alleles.
153001546 c.1082-20A>G IVS 2 VUS (X:153001546 A/G)
153001547 c.1082-19C>G IVS 2 Benign, based on its frequency of 86/200838 alleles (X:153001547 C/G)
153001551 c.1082-15T>C IVS 2 VUS (X:153001551 T/C).
153001566 c.1082A>G p.Asp361Gly exon 3 VUS (X:153001566 A/G) frequency 4/181632 alleles.
153001567 c.1083T>A p.Asp361Glu exon 3 VUS (X:153001567 T/A) frequency 1/177463 alleles.
153001567 c.1083T>C p.Asp361Asp exon 3 Synonymous (X:153001567 T/C).
153001568 c.1084G>A p.Ala362Thr exon 3 VUS (X:153001568 G/A) frequency 1/177465 alleles
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.
153001576 c.1092C>T p.Ala364Ala exon 3 Synonymous (X:153001576 C/T).
153001577 c.1093G>A p.Val365Met exon 3 VUS (X:153001577 G/A) frequency 5/177817 controle alleles..
153001577 c.1093G>C p.Val365Leu exon 3 VUS (X:153001577 G/C) frequency 1/177817 alleles
153001578 c.1094T>A p.Val365Glu exon 3 VUS (X:153001578 T/A) frequency 1/177881 alleles
153001580 c.1096A>T p.Lys366* exon 3 Pathogenic, identified in 4 ALD cases (181, 266). Deleterious mutation.
153001581 c.1097A>G p.Lys366Arg exon 3 VUS (X:153001581 A/G) frequency 1/178004 alleles
153001585 c.1101_1108dup p.Leu370Trpfs*12 exon 3 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
153001593 c.1109T>A p.Leu370* exon 3 Pathogenic, identified in 3 ALD cases (120). Deleterious mutation.
153001597 c.1113A>C p.Glu371Asp exon 3 VUS (X:153001597 A/C) frequency 1/178342 alleles
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>G p.Lys373Glu exon 3 Benign based on frequency 21/200035 alleles (X:153001601 A/G).
153001601 c.1117_19del p.Lys373del exon 3 Likely pathogenic, identified in a single ALD case (33). Likely deleterious mutation.
153001603 c.1119G>C p.Lys373Asn exon 3 VUS (X:153001603 G/C) frequency 1/178411 alleles.
153001604 c.1120G>A p.Glu374Lys exon 3 VUS (X:153001604 G/A) frequency 2/178403 alleles.
153001609 c.1125G>A p.Glu375Glu exon 3 Synonymous (X:153001609 G/A).
153001610 c.1126G>C p.Glu376Gln exon 3 VUS (X:153001610 G/C) frequency 6/200118 alleles.
153001610 c.1126G>T p.Glu376* exon 3 Pathogenic, identified in 2 ALD cases (200, 266). Deleterious mutation.
153001618 c.1134G>A p.Val378Val exon 3 Synonymous (X:153001618 G/A).
153001619 c.1135_36insC p.Ser379Thrfs*22 exon 3 Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP expression in patient cells (7).
153001621 c.1137dup p.Glu380Argfs*21 exon 3 Pathogenic, identified in a single ALD case (104). Deleterious mutation.
153001621 c.1137C>G p.Ser379Arg exon 3 Likely pathogenic, identified in a single ALD case (33).
153001622 c.1138_1151del p.Glu380Leufs*16 exon 3 Pathogenic, identified in a single ALD case (226). Deleterious mutation.
153001622 c.1138G>A p.Glu380Lys exon 3 VUS (X:153001622 G/A) frequency 1/178506 alleles.
153001625 c.1141C>T p.Arg381Cys exon 3 VUS (X:153001625 C/T) frequency 5/200035 alleles.
153001626 c.1142G>A p.Arg381His exon 3 VUS (X:153001626 G/A) frequency 6/200072 alleles.
153001628 c.1144A>C p.Thr382Pro exon 3 Pathogenic, identified in 2 ALD cases (195).
153001632 c.1148_1157del p.Glu383Valfs*7 exon 3 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153001634 c.1150G>A p.Ala384Thr exon 3 VUS (X:153001634 G/A) frequency 1/178617 alleles.
153001635 c.1151C>G p.Ala384Gly exon 3 VUS (X:153001635 C/G) frequency 2/178634 alleles.
153001636 c.1152C>T p.Ala384Ala exon 3 Synonymous (X:153001636 C/T).
153001640 c.1156A>G p.Thr386Ala exon 3 VUS (X:153001640 A/G) frequency 1/178645 alleles.
153001640 c.1156A>T p.Thr386Ser exon 3 VUS (X:153001640 A/T) frequency 1/21583 alleles.
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 14 ALD cases (58, 98, 181, 247, 252, 266).
153001649 c.[1165C>T; 1224+1GT>TG] p.[Arg389Cys; Val409fs*?] IVS 3 + exon 3 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153001650 c.1166G>A p.Arg389His exon 3 Pathogenic, identified in 37 ALD cases (13, 16, 22, 32, 60, 97, 111, 139, 141, 146, 178, 218, 221, 266, 274). Reduced (41% of control cells) ALDP in patient cells (139, 141).
153001655 c.1171_80del p.Leu391Argfs*16 exon 3 Pathogenic, identified in 2 ALD cases (60). Deleterious mutation.
153001655 c.1171_1178del p.Leu391Serfs*7 exon 3 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153001656 c.1172_1175del p.Leu391Argfs*18 exon 3 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
153001656 c.1172T>C p.Leu391Pro exon 3 Likely pathogenic, identified in a single ALD case (68).
153001656 c.1172T>G p.Leu391Arg exon 3 VUS (X:153001656 T/G) frequency 1/178700 alleles
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.1179A>C p.Thr393Thr exon 3 Synonymous (X:153001663 A/C).
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.
153001666 c.1182G>A p.Ala394Ala exon 3 Synonymous (X:153001666 G/A).
153001667 c.1183del p.Ala395Leufs*15 exon 3 Pathogenic, identified in a single ALD case (125). Deleterious mutation.
153001670 c.1186G>A p.Ala396Thr exon 3 Pathogenic, identified in 7 ALD cases (33, 60, 181). No detectable ALDP in patient cells (60).
153001671 c.1187C>T p.Ala396Val exon 3 Likely pathogenic, identified in a single ALD case (189).
153001674 c.1190A>G p.Asp397Gly exon 3 VUS (X:153001674 A/G) frequency 1/178725 alleles.
153001681 c.1197T>C p.Ile399Ile exon 3 Synonymous (X:153001681 T/C).
153001685 c.1201C>A p.Arg401Arg exon 3 Synonymous (X:153001685 C/A).
153001685 c.1201C>T p.Arg401Trp exon 3 Pathogenic, identified in 21 ALD cases (24, 29, 32, 33, 51, 87, 88, 90, 96, 100, 145, 154, 266, 272).
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 43 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). 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).
153001694 c.1210T>C p.Ser404Pro exon 3 Pathogenic, identified in 3 ALD cases (59, 64, 132).
153001695 c.1211C>A p.Ser404* exon 3 Pathogenic, identified in a single ALD case (98). Deleterious mutation.
153001695 c.1211C>T p.Ser404Leu exon 3 VUS (X:153001695 C/T) frequency 1/178707 alleles.
153001696 c.1212_14del p.Ser405del exon 3 Likely pathogenic, identified in a single ALD case (84). Likely deleterious mutation.
153001696 c.1212G>A p.Ser404Ser exon 3 Synonymous (X:153001696 G/A).
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.
153001699 c.1215G>A p.Ser405Ser exon 3 Synonymous (X:153001699 G/A).
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 2 ALD cases (13). Deleterious mutation.
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 Likely pathogenic, identified in a single ALD case (103). Should effect splicing and protein stability, but experimental proof was not provided.
153001713 c.1224+5C>T IVS 3 VUS (X:153001713 C/T) frequency 1/178636 alleles.
153001773 c.1225-26G>T IVS 3 VUS (X:153001773 G/T) frequency 9/178416 alleles.
153001790 c.1225-9C>T IVS 3 VUS (X:153001790 C/T) frequency 2/178534 alleles.
153001791 c.1225-8T>A IVS 3 VUS (X:153001791 T/A) frequency 1/178537 alleles.
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 VUS (X:153001802 A/T) frequency 4/178585 alleles.
153001803 c.1229C>A p.Thr410Lys exon 4 VUS (X:153001803 C/A) frequency 1/178582 alleles.
153001803 c.1229C>T p.Thr410Met exon 4 VUS (X:153001803 C/T) frequency 3/178582 alleles.
153001804 c.1230G>A p.Thr410Thr exon 4 Synonymous (X:153001804 G/A).
153001811 c.1237G>A p.Ala413Pro exon 4 Likely pathogenic, identified in a single ALD case (33).
153001811 c.1237G>C p.Ala413Pro exon 4 Likely pathogenic, identified in a single ALD case (33).
153001812 c.1238C>G p.Ala413Gly exon 4 VUS (X:153001812 C/G) frequency 1/178591 alleles.
153001813 c.1239T>C p.Ala413Ala exon 4 Synonymous (X:153001813 T/C).
153001814 c.1240_1243delGGCT p.Gly414Thrfs*26 exon 4 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153001816 c.1242_1255del p.Tyr415Alafs*8 exon 4 Pathogenic, identified in a single ALD case (211). Deleterious mutation.
153001818 c.1244A>G p.Tyr415Cys exon 4 Likely pathogenic, identified in a single ALD case (84).
153001819 c.1245C>T p.Tyr415Tyr exon 4 Synonymous (X:153001819 C/T).
153001822 c.1248del p.Ala417Profs*24 exon 4 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153001824 c.1250del p.Arg418Glyfs*23 exon 4 Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP in patient cells (7).
153001826 c.1252C>T p.Arg418Trp exon 4 Pathogenic, identified in 24 ALD cases (8, 15, 29, 33, 40, 58, 145, 177, 178, 191, 228, 263, 266). Affects ALDP stability in patient cells (33, 58, 165).
153001827 c.1253G>A p.Arg418Gln exon 4 Status unknown (VUS), identified in ALD newborn screening (191), but also in 1/178560 alleles (X:153001827 G/A).
153001829 c.1255G>A p.Val419Met exon 4 VUS (X:153001829 G/A) frequency 4/178589 alleles.
153001829 c.1255G>C p.Val419Leu exon 4 VUS (X:153001829 G/C) frequency 1/178589 alleles.
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 VUS (X:153001834 C/A) frequency 7/178596 alleles.
153001835 c.1261G>A p.Glu421Lys exon 4 VUS (X:153001835 G/A) frequency 1/178608 alleles.
153001837 c.1263delG p.Met422Cysfs*19 exon 4 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153001841 c.1267T>A p.Phe423Ile exon 4 VUS (X:153001841 T/A) frequency 1/178615 alleles.
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.1270delC p.Gln424Argfs*17 exon 4 Pathogenic, identified in a single ALD case (52). Deleterious mutation.
153001847 c.1273G>A p.Val425Ile exon 4 VUS (X:153001847 G/A).
153001853 c.1279_81del p.Glu427del exon 4 Likely pathogenic, identified in a single ALD case (49). Likely deleterious mutation.
153001862 c.1288C>T p.Gln430* exon 4 Pathogenic, identified in 3 ALD cases (49, 266, 274). Deleterious mutation.
153001862 c.[1288C>T; 1390C>T] p.[Gln430*; Arg464*] exon 4 + exon 4 Pathogenic, identified in a single ALD case (33). Two deleterious mutations.
153001865 c.1291C>T p.Arg431Cys exon 4 VUS (X:153001865 C/T) frequency 1/178596 alleles.
153001866 c.1292G>A p.Arg431His exon 4 VUS (X:153001866 G/A) frequency 2/178590 alleles.
153001869 c.1295G>A p.Cys432Tyr exon 4 VUS (X:153001869 G/A) frequency 1/178586 alleles.
153001873 c.1299C>T p.His433His exon 4 Synonymous (X:153001873 C/T).
153001878 c.1304A>G p.Lys435Arg exon 4 VUS (X:153001878 A/G) frequency 1/178568 alleles.
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).
153001891 c.1317G>A p.Glu439Glu exon 4 Synonymous (X:153001891 G/A).
153001896 c.1322dupA p.Asp442Glyfs*114 exon 4 Pathogenic, identified in 3 ALD cases (32, 141). Deleterious mutation. No detectable ALDP in patient cells (32, 141).
153001900 c.1326C>G p.Asp442Glu exon 4 VUS (X:153001900 C/G) frequency 1/178469 alleles.
153001900 c.1326C>T p.Asp442Asp exon 4 Synonymous (X:153001900 C/T).
153001901 c.1327G>A p.Ala443Thr exon 4 VUS (X:153001901 G/A) frequency 4/178453 alleles.
153001904 c.1330C>T p.Gln444* exon 4 Pathogenic, identified in 3 ALD cases (32, 60). Deleterious mutation.
153001908 c.1334C>T p.Ala445Val exon 4 VUS (X:153001908 C/T) frequency 2/178358 alleles
153001909 c.1335G>A p.Ala445Ala exon 4 Synonymous (X:153001909 G/A).
153001921 c.1347C>T p.Thr449Thr exon 4 Synonymous (X:153001921 C/T).
153001924 c.1350A>G p.Ile450Met exon 4 VUS (X:153001924 A/G) frequency 2/178260 alleles.
153001928 c.1354C>T p.Arg452Trp exon 4 Benign, based on its frequency of 95/204219 alleles (X:153001928 C/T).
153001929 c.1355G>T p.Arg452Leu exon 4 VUS (X:153001929 G/T) frequency 1/178072 alleles.
153001929 c.1355G>A p.Arg452Gln exon 4 VUS (X:153001929 G/A) frequency 3/178072 alleles.
153001932 c.1358delinsGA p.Ser453* exon 4 Pathogenic, identified in a single ALD case (58). Deleterious mutation.
153001933 c.1359delT p.Gly454Valfs*8 exon 4 Pathogenic, identified in 2 ALD cases (60, 266). Deleterious mutation. No detectable ALDP in patient cells (60).
153001940 c.1366dup p.Arg456Profs*100 exon 4 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
153001940 c.1366C>T p.Arg456Cys exon 4 VUS (X:153001940 C/T) frequency 2/177723 alleles.
153001941 c.1367G>A p.Arg456His exon 4 VUS (X:153001941 G/A) frequency 7/177689 alleles.
153001941 c.1367G>T p.Arg456Leu exon 4 VUS (X:153001941 G/T) frequency 1/177689 alleles.
153001941 c.1367G>C p.Arg456Pro exon 4 VUS (X:153001941 G/C) frequency 1/177689 alleles.
153001943 c.1369G>C p.Val457Leu exon 4 VUS (X:153001943 G/C) frequency 1/177679 alleles.
153001946 c.1372G>T p.Glu458* exon 4 Pathogenic, identified in a single ALD case (29). Deleterious mutation.
153001956 c.1382del p.Leu461Argfs*97 exon 4 Pathogenic, identified in a single ALD case (228). Deleterious mutation
153001961 c.1387A>T p.Ile463Phe exon 4 VUS (X:153001961 A/T) frequency 1/176350 alleles.
153001964 c.1390C>T p.Arg464* exon 4 Pathogenic, identified in 20 ALD cases (6, 32, 33, 47, 49, 59, 62, 64, 96, 105, 132, 141, 266). Deleterious mutation. No detectable ALDP in patient cells (6, 32, 77, 141).
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 VUS (X:153001965 G/A) frequency 6/197263 alleles.
153001965 c.1391G>C p.Arg464Pro exon 4 VUS (X:153001965 G/C) frequency 3/175733 alleles.
153001968 c.1393+1G>A p.Val425fs*92 IVS 4 Pathogenic, identified in a single ALD case (135). Activation of cryptic spice site, confirmed by functional studies (135).
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).
153002613 c.1396C>T p.Gln466* exon 5 Pathogenic, identified in 4 ALD cases (13, 32, 158, 266). Deleterious mutation. No detectable ALDP in patient cells (32).
153002616 c.1399G>A p.Val467Met exon 5 VUS (X:153002616 G/A) frequency 1/177603 alleles.
153002616 c.[1399G>A; 1850G>A] p.[Val467Met; Arg617His] exon 5 + exon 8 Pathogenic, identified in 4 ALD cases (33, 235). p.Val467Met is a VUS; p.Arg617His is a true pathogenic mutation.
153002617 c.1400_05del p.Val467_Val468del exon 5 Pathogenic, identified in 2 ALD cases (143).
153002619 c.1402G>A p.Val468Met exon 5 VUS (X:153002619 G/A) frequency 1/177657 alleles.
153002621 c.1404G>A p.Val468Val exon 5 Synonymous (X:153002621 G/A).
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.
153002630 c.1413A>G p.Glu471Glu exon 5 Synonymous (X:153002630 A/G).
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 162 ALD cases (1, 7, 8, 10, 13, 15, 16, 22, 24, 29, 32, 33, 36, 40, 43, 48,, 49, 53, 58, 59, 60, 62, 63, 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). Deleterious mutation. No detectable ALDP in patient cells (7, 22, 32, 36, 53, 58, 60, 146).
153002633 c.1416_17del p.Gly473Aspfs*82 exon 5 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153002637 c.1420del p.Ile474Serfs*84 exon 5 Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells(60).
153002639 c.1421T>C p.Ile474Thr exon 5 Pathogenic, identified in 4 ALD cases (33, 88, 125).
153002638 c.1422_26del p.Ile474Metfs*80 exon 5 Pathogenic, identified in a single ALD case (66). Deleterious mutation.
153002643 c.1426T>G p.Cys476Gly exon 5 VUS (X:153002643 T/G) frequency 1/177774 alleles
153002645 c.1428C>A p.Cys476* exon 5 Pathogenic, identified in a single ALD case (125). Deleterious mutation.
153002645 c.1428C>G p.Cys476Trp exon 5 VUS (X:153002645 C/G) frequency 1/177715 alleles.
153002645 c.1428C>T p.Cys476Cys exon 5 Synonymous (X:153002645 C/T).
153002646 c.1429G>A p.Glu477Lys exon 5 VUS (X:153002646 G/A) frequency 4/177731 alleles.
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.
153002657 c.1440del p.Ile481Serfs*77 exon 5 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
153002658 c.1441A>T p.Ile481Phe exon 5 Likely pathogenic, identified in a single ALD case (100).
153002658 c.1441A>G p.Ile481Val exon 5 VUS (X:153002658 A/G) frequency 1/177634 alleles.
153002660 c.1443C>T p.Ile481Ile exon 5 Synonymous (X:153002660 C/T).
153002661 c.1444G>A p.Val482Ile exon 5 VUS (X:153002661 G/A) frequency 8/199256 alleles.
153002662 c.1445T>A p.Val482Asp exon 5 Likely pathogenic, identified in a single ALD case (142).
153002668 c.1451C>G p.Pro484Arg exon 5 Pathogenic, identified in 5 ALD cases (3).
153002669 c.1452_1482del p.Glu487Trpfs*61 exon 5 Pathogenic, identified in a single ALD case (239). Deleterious mutation.
153002669 c.1452C>G p.Pro484Pro exon 5 Synonymous (X:153002669 C/G).
153002671 c.1454C>A p.Ser485* exon 5 Pathogenic, identified in 2 ALD cases (33, 266). Deleterious mutation.
153002672 c.1455A>C p.Ser485Ser exon 5 Synonymous (X:153002672 A/C).
153002672 c.1455_59delinsGGGA p.Glu487Argfs*71 exon 5 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153002673 c.1456G>A p.Gly486Arg exon 5 VUS (X:153002673 G/A) frequency 5/176936 alleles.
153002679 c.1462_63insTGG p.Val488_Val489insVal exon 5 Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58).
153002684 c.1467G>A p.Val489Val exon 5 Synonymous (X:153002684 G/A).
153002686 c.1469_71del p.Val490del exon 5 Pathogenic, identified in 2 ALD cases (33, 274). Likely a deleterious mutation.
153002687 c.1470_71insGTG p.Val490_Ala491insVal exon 5 Pathogenic, identified in a single ALD case (7). No detectable ALDP in patient cells (7).
153002687 c.1470_72dup p.Ala491dup exon 5 Likely pathogenic, identified in a single ALD case (33). Likely a deleterious mutation.
153002694 c.1477_1488+11del p.Leu493_Arg496del exon 5 Pathogenic, identified in a single ALD case (108). Deleterious mutation.
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 VUS (X:153002704 G/C) frequency 1/174592 alleles.
153002706 c.1488+1G>A p.Val497fs*? IVS 5 Pathogenic, identified in 4 ALD cases (33, 40, 200, 266). Deleterious mutation.
153002708 c.1488+3A>G p.Val497fs*? IVS 5 Pathogenic, identified in 4 ALD cases (32). Deleterious mutation.
153005536 c.1489-10delC IVS 5 Benign, based on its frequency of 1374/197671 alleles (X:153005536 GC/G). East-Asian specific polymorphism (1286/13873 alleles) confirmed by pedigree analysis (68).
153005537 c.1489-9C>T IVS 5 VUS (X:153005537 C/T) frequency 1/175888 alleles.
153005540 c.1489-6delC IVS 5 Benign, based on its frequency of 1466/202516 alleles (X:153005536 GC/G). East-Asian specific polymorphism (1286/13873 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.1489-1_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.
153005546 c.1489G>A p.Val497Met exon 6 VUS (X:153005546 G/A) frequency 1/176603 alleles
153005554 c.1497_1505del p.Glu499_His502delinsAsp exon 6 Pathogenic, identified in a single ALD case (105). Deleterious mutation.
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
153005559 c.1502del p.Met501Serfs*57 exon 6 Pathogenic, identified in a single ALD case (197). Deleterious mutation.
153005562 c.1505_06insC p.Leu503Serfs*53 exon 6 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153005565 c.1505_10del p.Leu503_Leu504del exon 6 Likely pathogenic, identified in a single ALD case (58). Likely a deleterious mutation.
153005562 c.1508T>C p.Leu503Pro exon 6 Pathogenic, identified in 2 ALD cases (63, 146).
153005565 c.1508_09insC p.Leu504Alafs*52 exon 6 Pathogenic, identified in a single ALD case (27). Deleterious mutation.
153005572 c.1514T>C p.Ile505Thr exon 6 Likely pathogenic, identified in a single ALD case (33).
153005571 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.
153005576 c.1519G>A p.Gly507Ser exon 6 Pathogenic, identified in 3 ALD cases (32).
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).
153005578 c.1521C>T p.Gly507Gly exon 6 Synonymous (X:153005578 C/T).
153005579 c.1522C>T p.Pro508Ser exon 6 Probably pathogenic, identified in ALD newborn screening (238).
153005580 c.1523C>T p.Pro508Leu exon 6 Likely pathogenic, identified in a single ALD case (93).
153005583 c.1526A>G p.Asn509Ser exon 6 VUS (X:153005583 A/G) frequency 1/177654 alleles.
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>T p.Cys511Cys exon 6 Synonymous (X:153005590 C/T).
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).
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 41 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). 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).
153005593 c.1536C>G p.Gly512Gly exon 6 Synonymous (X:153005593 C/G).
153005594 c.1537A>C p.Lys513Gln exon 6 Pathogenic, identified in 2 ALD cases (33, 69).
153005595 c.1538A>G p.Lys513Arg exon 6 Pathogenic, identified in 2 ALD cases (58, 125). No detectable ALDP in patient cells (58).
153005597 c.1540A>C p.Ser514Arg exon 6 Pathogenic, identified in 7 ALD cases (63, 145, 226, 263).
153005597 c.1540A>G p.Ser514Gly exon 6 Pathogenic, identified in 2 ALD patienst (32).
153005598 c.1541G>T p.Ser514Ile exon 6 Pathogenic, identified in 2 ALD cases (88).
153005598 c.1541G>A p.Ser514Asn exon 6 Pathogenic, identified in 4 ALD cases (58, 145, 274). Affects ALDP stability in patient cells (58). Mutation affects protein-protein interaction (262).
153005601 c.1544C>A p.Ser515Tyr exon 6 Likely pathogenic, identified in a single ALD case (125).
153005601 c.1544C>T p.Ser515Phe exon 6 Pathogenic, identified in 11 ALD cases (8, 51, 112, 179).
153005604 c.1547T>C p.Leu516Pro exon 6 Pathogenic, identified in 5 ALD cases (33, 58, 71, 225). No detectable ALDP in patient cells (58).
153005605 c.1548G>A p.Leu516Leu exon 6 Synonymous (X:153005605 G/A) frequency 18810/199236 alleles.
153005608 c.1551C>T p.Phe517Phe exon 6 Synonymous (X:153005608 C/T).
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 22 ALD cases (6, 7, 32, 33, 53, 58, 88, 90, 125, 133, 137, 227, 274). No detectable ALDP in patient cells (7, 58).
153005610 c.1553G>A p.Arg518Gln exon 6 Pathogenic, identified in 52 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). 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).
153005621 c.1564G>A p.Gly522Arg exon 6 Pathogenic, identified in 2 ALD cases (7, 58). No detectable ALDP in patient cells (7, 58).
153005624 c.1567C>T p.Leu523Phe exon 6 Pathogenic, identified in 2 ALD cases (96, 235).
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>G p.Pro525Ala exon 6 Likely pathogenic, identified in a single ALD case (33).
153005630 c.1573C>T p.Pro525Ser exon 6 Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58).
153005638 c.1581C>T p.Tyr527Tyr exon 6 Synonymous (X:153005638 C/T).
153005638 c.1581C>A p.Tyr527* exon 6 Pathogenic, identified in a single ALD case (105). Deleterious mutation.
153005639 c.1582G>A p.Gly528Ser exon 6 Benign, (X:153005639 G/A) frequency 8/199702 alleles, confirmed by biochemical testing (144).
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).
153005642 c.1585delG p.Gly529Valfs*29 exon 6 Pathogenic, identified in 2 ALD cases (21, 62). Deleterious mutation.
153005643 c.1586_90del p.Gly529Valfs*25 exon 6 Pathogenic, identified in a single ALD case (49). Deleterious mutation. No detectable ALDP in patient cells (49).
153005643 c.1586G>A p.Gly529Asp exon 6 Pathogenic, identified in 2 ALD cases (33).
153005645 c.1588G>A p.Val530Met exon 6 VUS (X:153005645 G/A) frequency 1/178126 alleles
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 Pathogenic, identified in 5 ALD cases (181, 243, 274).
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 Pathogenic, identified in 2 ALD cases (33, 191).
153005658 c.1601C>T p.Pro534Leu exon 6 Pathogenic, identified in 2 ALD cases (23, 191, 200</a). No detectable ALDP in patient cells (23).
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).
153005664 c.1607C>A p.Pro536His exon 6 Likely pathogenic, identified in a single ALD case (84).
153005666 c.1609C>T p.Gln537* exon 6 Pathogenic, identified in 3 ALD cases (96, 235, 250). Deleterious mutation.
153005668 c.1611G>C p.Gln537His exon 6 VUS (X:153005668 G/C) frequency 2/178177 alleles.
153005669 c.1612C>T p.Arg538Cys exon 6 VUS (X:153005669 C/T) frequency 1/178116 alleles.
153005670 c.1613G>A p.Arg538His exon 6 VUS (X:153005670 G/A).
153005671 c.1614_1640dup p.Met548_Ser549insFYIPQRPY exon 6 Pathogenic, identified in a single ALD case (100). Deleterious mutation.
153005672 c.1615A>C p.Met539Leu exon 6 VUS (X:153005672 A/C) frequency 3/199708 alleles.
153005672 c.1615A>T p.Met539Leu exon 6 VUS (X:153005672 A/T) frequency 1/178110 alleles.
153005674 c.1617G>A p.Met539Ile exon 6 VUS (X:153005674 G/A) frequency 1/178094 alleles.
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 Status unknown (VUS), identified in ALD newborn screening (191).
153005677 c.1620C>T p.Phe540Phe exon 6 Synonymous (X:153005677 C/T).
153005678 c.1621_1628del p.Tyr541Alafs*12 exon 6 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
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 47 ALD cases (27, 29, 32, 33, 40, 49, 60, 65, 114, 139, 141, 145, 158, 178, 208, 214, 227, 228, 266, 274). No detectable ALDP in patient cells (32, 49, 60, 139, 141).
153005685 c.1628delC p.Pro543Argfs*15 exon 6 Pathogenic, identified in 2 ALD cases (33, 266). 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).
153005686 c.1629G>A p.Pro543Pro exon 6 Synonymous (X:153005686 G/A).
153005687 c.1630C>A p.Gln544Lys exon 6 Pathogenic, identified in a single ALD case (58). Affects ALDP stability in patient cells (58).
153005688 c.1631A>G p.Gln544Arg exon 6 Pathogenic, identified in 9 ALD cases (9, 24, 33, 88, 90, 252, 266). Normal ALDP level in patient cells (9), but non-functional (261).
153005690 c.1633A>T p.Arg545Trp exon 6 Likely pathogenic, identified in a single ALD case (53).
153005691 c.1634G>A p.Arg545Lys exon 6 VUS (X:153005691 G/A) frequency 1/177632 alleles.
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.
153005695 c.1634+4A>G IVS 6 VUS (X:153005695 A/G) frequency 1/177483 alleles.
153005696 c.1634+5G>C IVS 6 VUS (X:153005696 G/C) frequency 1/177317 alleles.
153006013 c.1635-16_1645delins CACAGACATGTAGGGC p.Pro546fs*? IVS 6 Pathogenic, identified in a single ALD case (243). Deleterious mutation.
153006022 c.1635-6C>T IVS 6 VUS (X:153006022 C/T) frequency 3/199784 alleles.
153006025 c.1635-3C>G p.Pro546fs*? IVS 6 Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided.
153006026 c.1635-2A>G p.Pro546fs*? IVS 6 Pathogenic, identified in 5 ALD cases (11, 33). Deleterious mutation. No detectable ALDP in patient cells (33) due to splicing defect (11).
153006027 c.1635-1G>A p.Pro546fs*? IVS 6 Likely pathogenic, identified in a single ALD case (266). Should effect splicing and protein stability, but experimental proof was not provided.
153006033 c.1640A>G p.Tyr547Cys exon 7 Pathogenic, identified in 3 ALD cases (33, 104, 124). No detectable ALDP in patient cells (104).
153006035 c.1642A>G p.Met548Val exon 7 Pathogenic, identified in 3 ALD cases (200, 266), confirmed by biochemical testing.
153006046 c.1653C>T p.Gly551Gly exon 7 Synonymous (X:153006046 C/T). Variant is found in a segmental duplication region (SEGDUP), which may indicate a low-quality site. See (Pseudogenes & Mutation analysis).
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).
153006050 c.1657C>G p.Leu553Val exon 7 Likely pathogenic, identified in a single ALD case (33).
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 57 ALD cases (28, 29, 32, 33, 49, 52, 58, 59, 60, 62, 63, 64, 87, 88, 97, 100, 102, 107, 108, 111, 120, 132, 137, 145, 178, 191, 213, 235, 238, 266, 273). 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).
153006059 c.1666C>T p.Gln556* exon 7 Pathogenic, identified in a single ALD case (58). 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 Status unknown (VUS), identified in ALD newborn screening (191).
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>G p.Tyr559* exon 7 Pathogenic, identified in a single ALD case (122). Deleterious mutation.
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 40 ALD cases (4, 7, 24, 32, 33, 49, 71, 86, 88, 90, 93, 96, 100, 108, 111, 136, 145, 158, 165, 263, 266). Affects ALDP stability in patient cells (7, 32, 33, 49).
153006072 c.1679C>G p.Pro560Arg exon 7 Pathogenic, identified in a single ALD case (7). No detectable ALDP in patient cells (7).
153006073 c.1680G>A p.Pro560Pro exon 7 Synonymous (X:153006073 G/A).
153006075 c.1682A>T p.Asp561Val exon 7 Pathogenic, identified in 3 ALD cases (60). No detectable ALDP in patient cells (60).
153006087 c.1694A>G p.Asp565Gly exon 7 VUS (X:153006087 A/G) frequency 1/178467 alleles.
153006088 c.1695del p.Asp565Glufs*71 exon 7 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
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.
153006101 c.1708_1709delGG p.Gly570Leufs*30 exon 7 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153006107 c.1714T>C p.Ser572Pro exon 7 Status unknown (VUS), identified in ALD newborn screening (191).
153006107 c.1714_25del p.Ser572_Asp575del exon 7 Pathogenic, identified in 2 ALD cases (81, 104).
153006108 c.1715C>T p.Ser572Leu exon 7 VUS (X:153006108 C/T) frequency 1/178412 alleles.
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).
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 2 ALD cases (53, 58). 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 VUS (X:153006125 G/A) frequency 6/178388 alleles.
153006127 c.1734C>G p.Ala578Ala exon 7 Synonymous (X:153006127 C/G).
153006136 c.1743C>T p.Asp581Asp exon 7 Synonymous (X:153006136 C/T).
153006137 c.1744G>T p.Val582Phe exon 7 VUS (X:153006137 G/T).
153006139 c.1746del p.Val583Cysfs*53 exon 7 Pathogenic, identified in 2 ALD cases (27, 158). Deleterious mutation.
153006140 c.1747G>A p.Val583Met exon 7 Status unknown (VUS), identified in ALD newborn screening (191).
153006140 c.1747_1759del p.Val583Thrfs*49 exon 7 Pathogenic, identified in a single ALD case (145). Deleterious mutation.
153006141 c.1748T>C p.Val583Ala exon 7 Benign, based on its frequency of 26/169917 alleles (X:153006141 T/C).
153006141 c.1748T>A p.Val583Glu exon 7 Identified in a single ALD case (231), but likely benign based on its frequency of 15/153962 alleles (X-153006141-T-A).
153006141 c.1748T>G p.Val583Gly exon 7 Likely pathogenic, identified in a single ALD case (33).
153006143 c.1750C>T p.His584Tyr exon 7 VUS (X:153006143 C/T) frequency 1/178270 alleles
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 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153006152 c.1759_61dup p.His587dup exon 7 Likely pathogenic, identified in a single ALD case (125). Likely a deleterious mutation.
153006152 c.1759_70del12 p.His587_Gln590del exon 7 Pathogenic, identified in a single ALD case (24). Deleterious mutation.
153006158 c.1765del p.Leu589Cysfs*47 exon 7 Pathogenic, identified in a single ALD case (49). Deleterious mutation.
153006161 c.1768C>T p.Gln590* exon 7 Pathogenic, identified in 9 ALD cases (20, 88, 176, 266). Deleterious mutation.
153006162 c.1769A>T p.Gln590Leu exon 7 VUS (X:153006162 A/T) frequency 2/178017 alleles.
153006164 c.1771del p.Arg591Glyfs*45 exon 7 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153006164 c.1771C>T p.Arg591Trp exon 7 Pathogenic, identified in 12 ALD cases (24, 32, 33, 53, 72, 161, 266, 274). 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 28 ALD cases (22, 32, 33, 78, 98, 108, 145, 175, 191, 238, 266, 274). Normal ALDP level in patient cells (22, 33), but non-functional (33).
153006173 c.1780G>C p.Gly594Arg exon 7 Pathogenic, identified in 2 ALD cases (33, 83).
153006174 c.1780+1G>A p.Trp595fs*? IVS 7 Pathogenic, identified in 2 ALD cases (7, 53). Deleterious mutation.
153006175 c.1780+2T>G p.Trp595fs*? IVS 7 Pathogenic, identified in 10 ALD cases (33, 38, 58, 71, 118, 158, 214, 266). 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 alleles (X:153006177 G/A).
153008436 c.1781-5C>G IVS 7 Benign, based on its frequency of 14/170857 alleles (X:153008436 C/G).
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>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.
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 Reported in ExAC (X:153008450 C/G) as a VUS. 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 VUS (X:153008452 A/G) frequency 7/174488 alleles.
153008454 c.1794G>T p.Met598Ile exon 8 VUS (X:153008454 G/T) frequency 6/180542 alleles.
153008457 c.1797dup p.Asp600* exon 8 Pathogenic, identified in 2 ALD cases (219). Deleterious mutation.
153008462 c.1802G>A p.Trp601* exon 8 Pathogenic, identified in 10 ALD cases (27, 33, 53, 79, 100, 154, 266). 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.
153008470 c.1810G>A p.Val604Ile exon 8 Benign, based on its frequency of 116/184498 alleles (X:153008470 G/A).
153008473 c.1813_1831del p.Leu605Argfs*25 exon 8 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153008474 c.1814T>A p.Leu605Gln exon 8 Pathogenic, identified in 4 ALD cases (59, 64, 132, 137).
153008474 c.1814T>C p.Leu605Pro exon 8 Likely pathogenic, identified in a single ALD case (33).
153008475 c.1815G>C p.Leu605Leu exon 8 Synonymous (X:153008475 G/C).
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 (72) 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>T p.Ser606Leu exon 8 Pathogenic, identified in 36 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). Reduced (25% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, detectable ALDP by immunofluorescence (22, 33, 49, 60). Mutation affects ATP-binding capacity of ALDP (194, 244) and deficient beta-oxidation (261).
153008478 c.1818G>A p.Ser606Ser exon 8 Synonymous (X:153008478 G/A).
153008478 c.1818G>C p.Ser606Ser exon 8 Synonymous (X:153008478 G/C).
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 case (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 Reported in ALD male (48), but considering its frequency of 306/36626 alleles (X:153008483 G/A) this is not a pathogenic variant.
153008485 c.1825G>A p.Glu609Lys exon 8 Pathogenic, identified in 36 ALD cases (15, 16, 32, 33, 49, 60, 62, 72, 88, 90, 97, 141, 146, 235, 266, 274). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (32, 49, 60, 72, 141, 146).
153008486 c.1826A>G p.Glu609Gly exon 8 Pathogenic, identified in 4 ALD cases (16, 97, 141, 266). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (32, 49, 60, 72, 141, 146).
153008492 c.1832A>G p.Gln611Arg exon 8 Likely pathogenic, identified in a single ALD case (33).
153008493 c.1833G>C p.Gln611His exon 8 Likely pathogenic, identified in a single ALD case (33).
153008498 c.1838T>A p.Ile613Asn exon 8 Likely pathogenic, identified in a single ALD case (33).
153008499 c.1839C>T p.Ile613Ile exon 8 Synonymous (X:153008499 C/T).
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 VUS (X:153008500 G/A) frequency 9/180754 alleles.
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 8 ALD cases (32, 97, 141, 218). Reduced (4% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, 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 Likely pathogenic, identified in a single ALD case (92).
153008509 c.1849C>G p.Arg617Gly exon 8 Pathogenic, identified in 10 ALD cases (15, 33, 59, 64, 67, 86, 93, 132, 137).
153008509 c.1849C>T p.Arg617Cys exon 8 Pathogenic, identified in 43 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). 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 56 ALD cases (6, 13, 17, 22, 32, 33, 49, 57, 58, 60, 62, 74, 87, 88, 96, 100, 125, 145, 147, 154, 178, 235, 246, 250, 266, 274). No detectable ALDP in patient cells (22, 33, 49, 58, 60, 147) and deficient beta-oxidation in patient cells (261).
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 Status unknown (VUS), identified in ALD newborn screening (191).
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).
153008665 c.1866-10G>A p.Pro623fs*? IVS 8 Pathogenic, identified in 29 ALD cases (11, 30, 32, 33, 58, 72, 100, 125, 145, 156, 178, 191, 235, 250, 274). No detectable ALDP in patient cells (32, 58, 72) due to splicing defect (11, 30).
153008670 c.1866-5C>T IVS 8 VUS (X:153008670 C/T).
153008673 c.1866-2A>T p.Pro623fs*? IVS 8 Pathogenic, identified in 5 ALD cases (32, 250). No detectable ALDP in patient cells (32) due to splicing defect.
153008677 c.1868C>T p.Pro623Leu exon 9 Likely pathogenic, identified in a single ALD case (100).
153008679 c.1870A>G p.Lys624Glu exon 9 VUS (X:153008679 A/G) frequency 2/173670 alleles.
153008685 c.1876G>A p.Ala626Thr exon 9 Pathogenic, identified in 21 ALD cases (22, 33, 49, 145, 196, 220, 259, 266). No detectable ALDP in patient cells (22, 33, 49, 234) and deficient beta-oxidation in patient cells (259).
153008685 c.[1876G>A; 2087A>T] p.[Ala626Thr; Lys696Met] exon 9 + exon 10 Pathogenic, identified in a single ALD case (32). p.Ala626Thr is pathogenic; p.Lys696Met is a VUS (X:153009038 A/T).
153008685 c.1876G>T p.Ala626Ser exon 9 Status unknown (VUS), identified in ALD newborn screening (191).
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.
153008690 c.1881C>T p.Leu627Leu exon 9 Synonymous (X:153008690 C/T).
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.
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 6 ALD cases (33, 49, 76, 93, 266).
153008702 c.1893C>G p.Cys631Trp exon 9 Likely pathogenic, identified in a single ALD case (33).
153008703 c.1894A>C p.Thr632Pro exon 9 Pathogenic, identified in 5 ALD cases (33, 96, 100, 120).
153008704 c.1895C>T p.Thr632Ile exon 9 Pathogenic, identified in 14 ALD cases (33, 49, 147, 238, 266), confirmed by extensive pedigree analysis (147).
153008707 c.1898G>T p.Ser633Ile exon 9 Likely pathogenic, identified in a single ALD case (48).
153008708 c.1899C>T p.Ser633Ser exon 9 Synonymous (X:153008708 C/T).
153008708 c.1899delC p.Ser633Argfs*3 exon 9 Pathogenic, identified in 6 ALD cases (32, 141, 250). Deleterious mutation. No detectable ALDP in patient cells (141).
153008708 c.1899C>A p.Ser633Arg exon 9 Pathogenic, identified in 3 ALD cases (29, 96, 266).
153008709 c.1900G>T p.Ala634Ser exon 9 VUS (X:153008709 G/T).
153008709 c.1900G>A p.Ala634Thr exon 9 Likely pathogenic, identified in a single ALD case (32).
153008711 c.1902C>T p.Ala634Ala exon 9 Synonymous (X:153008711 C/T).
153008712 c.1903G>A p.Val635Met exon 9 Pathogenic, identified in 4 ALD cases (32, 49, 58, 274). Affects ALDP stability in patient cells (32, 58).
153008712 c.1903_04insCCA p.Val635delinsAlaMet exon 9 Pathogenic, identified in 2 ALD cases (72, 145). Affects ALDP stability in patient cells (72).
153008715 c.1906delA p.Ser636Alafs*55 exon 9 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153008716 c.1907_25del p.Ser636Argfs*49 exon 9 Pathogenic, identified in 3 ALD cases (32). Deleterious mutation.
153008716 c.1907G>T p.Ser636Ile exon 9 Pathogenic, identified in 3 ALD cases (27, 42, 266). No detectable ALDP in patient cells (42).
153008718 c.1909A>G p.Ile637Val exon 9 VUS (X:153008718 A/G).
153008720 c.1911C>T p.Ile637Ile exon 9 Synonymous (X:153008720 C/T).
153008721 c.1912G>T p.Asp638Tyr exon 9 Pathogenic, identified in 3 ALD cases (38).
153008723 c.1914C>T p.Asp638Asp exon 9 Synonymous (X:153008723 C/T).
153008724 c.1915G>A p.Val639Met exon 9 VUS (X:153008724 G/A).
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.
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 3 ALD cases (189, 266). Deleterious mutation.
153008745 c.1936G>C p.Ala646Pro exon 9 Pathogenic, identified in 2 ALD cases (29, 33).
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).
153008759 c.1950G>A p.Ala650Ala exon 9 Synonymous (X:153008759 G/A).
153008770 c.1961T>G p.Leu654Arg exon 9 Likely pathogenic, identified in a single ALD case (33).
153008770 c.1961T>C p.Leu654Pro exon 9 Pathogenic, identified in 20 ALD cases (32, 49, 62, 97, 139, 141, 266). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (32, 49, 139, 141).
153008773 c.1964T>C p.Leu655Pro exon 9 Pathogenic, identified in a single ALD case (53). Affects ALDP stability in patient cells (53).
153008775 c.1966_1967dup p.Ile657Profs*35 exon 9 Pathogenic, identified in a single ALD case (274). Deleterious mutation.
153008776 c.1967C>T p.Ser656Phe exon 9 Likely pathogenic, identified in a single ALD case (33).
153008779 c.1970_72del p.Ile657del exon 9 Pathogenic, identified in 12 ALD cases (16, 32, 33, 111, 141, 185). No detectable ALDP in patient cells (32, 141).
153008782 c.1973C>T p.Thr658Ile exon 9 Pathogenic, identified in 3 ALD cases (33, 58, 243). No detectable ALDP in patient cells (58).
153008787 c.1978C>T p.Arg660Trp exon 9 Pathogenic, identified in 59 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). 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 Pathogenic, identified in 4 ALD cases (71, 72, 266). No detectable ALDP in patient cells (72).
153008788 c.1979G>T p.Arg660Leu exon 9 Status unknown (VUS), identified in ALD newborn screening (191).
153008788 c.1979G>C p.Arg660Pro exon 9 Likely pathogenic, identified in a single ALD case (48).
153008791 c.1982_83del p.Pro661Leufs*72 exon 9 Pathogenic, identified in 2 ALD cases (32). Deleterious mutation.
153008797 c.1988T>A p.Leu663Gln exon 9 Pathogenic, identified in 2 ALD cases (32, 58). Affects ALDP stability in patient cells (32, 58).
153008797 c.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.
153008805 c.1991+5G>T IVS 9 VUS (X:153008805 G/T).
153008807 c.1991+7G>A IVS 9 VUS (X:153008807 G/A) frequency 6/135338 alleles.
153008941 c.1992-2A>G p.Lys665fs*? IVS 9 Pathogenic, identified in 8 ALD cases (32, 199, 266, 274). Deleterious mutation.
153008942 c.1992-1G>A p.Lys665fs*? IVS 9 Likely pathogenic, identified in a single ALD case (49). Should effect splicing and protein stability, but experimental proof was not provided.
153008943 c.1992G>A p.Trp664* exon 10 Pathogenic, identified in 2 ALD cases (98, 252). Deleterious mutation.
153008944 c.1993_95delinsGAG p.Lys665delinsGlu exon 10 Pathogenic, identified in a single ALD case (72). Affects ALDP stability in patient cells (72).
153008945 c.1994A>C p.Lys665Thr exon 10 VUS (X:153008945 A/C) frequency 1/165162 alleles.
153008948 c.[1997A>C;2007C>G] p.[Tyr666Ser;His669Gln] exon 10 Likely pathogenic, identified in a single ALD case (62). Unclear which of the two variants is pathogenic.
153008949 c.1998C>G p.Tyr666* exon 10 Pathogenic, identified in a single ALD case (33). Deleterious mutation.
153008949 c.1998C>A p.Tyr666* exon 10 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
153008949 c.1998_1999insGC p.His667Alafs*25 exon 10 Pathogenic, identified in a single ALD case (266). Deleterious mutation.
153008950 c.1999C>G p.His667Asp exon 10 Pathogenic, identified in 5 ALD cases (49, 62, 90, 97). Reduced (3% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (49). Mutation affects targeting to peroxisomes (261).
153008950 c.1999C>A p.His667Asn exon 10 Likely pathogenic, identified in a single ALD case (232).
153008950 c.1999_2000delCA p.His669Leufs*64 exon 10 Pathogenic, identified in a single ALD case (29). Deleterious mutation.
153008951 c.2000A>G p.His667Arg exon 10 Likely pathogenic, identified in a single ALD case (33).
153008951 c.2000A>T p.His667Leu exon 10 Pathogenic, identified in a single ALD case (53). Affects ALDP stability in patient cells (53).
153008953 c.[2002A>G;1021G>T] p.[Thr668Ala;Ala341Ser] exon 10 Likely pathogenic, identified in a single ALD case (258). p.Ala341Ser 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.2006_2007dup p.Leu670Thrfs*22 exon 10 Pathogenic, identified in ALD newborn screening (191). Deleterious mutation.
153008957 c.2006A>G p.His669Arg exon 10 Pathogenic, identified in 10 ALD cases (33, 58, 104, 135, 145, 228, 266, 274). No detectable ALDP in patient cells (58).
153008958 c.[2007C>G;1997A>C] p.[His669Gln;Tyr666Ser] exon 10 Likely pathogenic, 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 a single ALD case (181). Deleterious mutation.
153008963 c.2012T>C p.Leu671Pro exon 10 Likely pathogenic, identified in a single ALD case (255).
153008964 c.2013dup p.Gln672Thrfs*62 exon 10 Pathogenic, identified in a single ALD case (271). Deleterious mutation.
153008965 c.2014C>T p.Gln672* exon 10 Pathogenic, identified in 7 ALD cases (25, 27, 28, 33, 87, 88, 274). Deleterious mutation. No detectable ALDP in patient cells (25).
153008970 c.2019C>T p.Phe673Phe exon 10 Synonymous (X:153008970 C/T).
153008970 c.2019C>G p.Phe673Leu exon 10 VUS (X:153008970 C/G) frequency 2/164208 alleles.
153008971 c.2020G>A p.Asp674Asn exon 10 VUS (X:153008971 G/A) frequency 1/21495 alleles.
153008974 c.2023G>T p.Gly675Trp exon 10 Status unknown (VUS), identified in ALD newborn screening (191).
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 Likely pathogenic, identified in a single ALD case (96).
153008982 c.2031C>T p.Gly677Gly exon 10 Synonymous (X:153008982 C/T).
153008983 c.2032G>A p.Gly678Ser exon 10 VUS (X:153008983 G/A) frequency 1/21526 alleles.
153008983 c.2032G>T p.Gly678Cys exon 10 Benign, confirmed by biochemical testing (210).
153008984 c.2033G>A p.Gly678Asp exon 10 VUS (X:153008984 G/A).
153008986 c.2035T>C p.Trp679Arg exon 10 Pathogenic, identified in 3 ALD cases (14, 88).
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>T p.Phe681Phe exon 10 Synonymous (X:153008994 C/T).
153008994 c.2043C>G p.Phe681Leu exon 10 Benign, based on its frequency of 26/181918 alleles (X:153008994 C/G).
153008995 c.2044G>C p.Glu682Gln exon 10 Benign, based on its frequency of 13/181548 alleles (X:153008995 G/C).
153009002 c.2051T>C p.Leu684Pro exon 10 Pathogenic, identified in 2 ALD cases (33, 225).
153009012 c.2061_2200del p.Leu690Profs*65 exon 10 Pathogenic, identified in a single ALD case (32). Deleterious mutation.
153009016 c.2065C>T p.Arg689Cys exon 10 Benign, based on its frequency of 12/176163 alleles (X:153009016 C/T).
153009024 c.2073C>G p.Ser691Arg exon 10 VUS (X:153009024 C/G).
153009029 c.2078C>T p.Thr693Met exon 10 Pathogenic, identified in a single ALD case (49). Normal ALDP level in patient cells (49), but non-functional.
153009038 c.2087A>T p.Lys696Met exon 10 VUS (X:153009038 A/T) frequency 8/151181 alleles.
153009041 c.2090A>G p.Gln697Arg exon 10 VUS (X:153009041 A/G) frequency 3/147671 alleles.
153009062 c.2111C>T p.Ala704Val exon 10 VUS (X:153009062 C/T).
153009063 c.2112G>A p.Ala704Ala exon 10 Synonymous (X:153009063 G/A).
153009074 c.2123A>G p.Lys708Arg exon 10 VUS (X:153009074 A/G) frequency 1/21422 alleles.
153009078 c.2127G>A p.Met709Ile exon 10 VUS (X:153009078 G/A) frequency 2/136452 alleles.
153009082 c.2131C>T p.Arg711Trp exon 10 VUS (X:153009082 C/T).
153009083 c.2132G>A p.Arg711Gln exon 10 VUS (X:153009083 G/A) frequency 3/132083 alleles.
153009086 c.2135G>C p.Arg712Pro exon 10 Status unknown (VUS), identified in ALD newborn screening (191).
153009089 c.2138T>C p.Leu713Pro exon 10 VUS (X:153009089 T/C) frequency 1/130825 alleles.
153009094 c.2143G>A p.Glu715Lys exon 10 VUS (X:153009094 G/A) frequency 1/21236 alleles.
153009109 c.2158C>G p.Leu720Val exon 10 VUS (X:153009109 C/G).
153009124 c.2173G>A p.Ala725Thr exon 10 VUS (X:153009124 G/A) frequency 4/114962 alleles.
153009136 c.2185G>A p.Val729Met exon 10 VUS (X:153009136 G/A) frequency 1/111788 alleles.
153009140 c.2189C>T p.Pro730Leu exon 10 VUS (X:153009140 C/T) frequency 4/130292 alleles.
153009141 c.2190G>A p.Pro730Pro exon 10 Synonymous (X:153009141 G/A).
153009152 c.2201C>G p.Pro734Arg exon 10 VUS (X:153009152 C/G) frequency 3/127737 alleles.
153009152 c.2201C>T p.Pro734Leu exon 10 VUS (X:153009152 C/T) frequency 9/127737 alleles.
153009153 c.2202G>A p.Pro734Pro exon 10 Synonymous (X:153009153 G/A).
153009160 c.2209C>T p.Pro737Ser exon 10 VUS (X:153009160 C/T) frequency 1/20978 alleles.
153009173 c.2222A>G p.Gln741Arg exon 10 VUS (X:153009173 A/G).
153009176 c.2225G>T p.Gly742Val exon 10 VUS (X:153009176 G/T).
153009184 c.2233A>C p.Thr745Pro exon 10 VUS (X:153009184 A/C).
153009190 c.2238*1C>T 3′ UTR VUS (X:153009190 C/T).
153009196 c.2238*7C>T 3′ UTR VUS (X:153009196 C/T).
153009197 c.2238*8G>C 3′ UTR Benign, based on its frequency of 81685/120445 alleles (X:153009197 G/C).

Legend: Mutations are arranged according to their nucleotide position on the X-chromosome. All mutations (including those that have been published in the past) are annotated using Alamut software using transcript NM_000033.3 on GRCh37 (hg19) as reference sequence. The number of clinically/biochemically affected ALD cases that have been reported/identified for each mutation is indicated. In case additional experimental proof with respect to the effect of the mutation on the ALD protein (ALDP) or mRNA splicing is available references are provided. Note: unpublished mutations (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 mutations.
Because ABCD1 mutations have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided.

Back to Mutations & Biochemistry

References

 

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Last modified | 2021-06-11