Mutations and Variants in ABCD1

July 12th, 2017 |

Mutations and variations identified in the ABCD1 gene

The ALD 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. The variants (VUS (variant of unknown significance), polymorphisms and synonymous variants) reported come from the Exome Aggregation Consortium (ExAC), a data set that spans >60,000 unrelated individuals sequenced as part of various disease-specific and population genetic studies. This work has also identified variants in the ABCD1 gene, which are included in the ALD database.
The ALD 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 database as a reference guide, please share your ABCD1 mutations identified with the ALD database to make them available to others (your contribution will be acknowledged).

Chromosome position Variant Consequence Exon Remark
152990663 c.-59C>T 5′ UTR Benign, based on its frequency of 11/150 control alleles (48).
152990698 c.-24_57delinsA p.0?
(no translation initiation)
5′ UTR Pathogenic, identified in ALD patient (33).
152990700 c.-22C>T p.0?
upstream ATG (out of frame)
5′ UTR Pathogenic, identified in ALD patient (32). Affects ALDP stability in patient cells (32).
152990702 c.-20C>T 5′ UTR Benign, based on its frequency of 14/1825 control alleles (X:152990702 C/T).
152990705 c.-17_8del p.0?
(no translation initiation)
5′ UTR Pathogenic, identified in >20 ALD patients (extensive pedigree analysis (45)). No detectable ALDP in patient cells (45).
152990722 c.1A>G p.Met1Val
(no translation initiation)
exon 1 Pathogenic, identified in >15 ALD patients (32, 102, 139, 141). No detectable ALDP in patient cells (102, 139, 141).
152990722 c.1A>T p.Met1Val
(no translation initiation)
exon 1 Pathogenic, identified in ALD patient (160).
152990723 c.2T>A p.Met1Lys
(no translation initiation)
exon 1 Pathogenic, identified in 5 ALD patients (58). No detectable ALDP in patient cells (58).
152990724 c.3G>A p.Met1Ile
(no translation initiation)
exon 1 Pathogenic, identified in ALD patient (33).
152990724 c.3G>C p.Met1Ile
(no translation initiation)
exon 1 Pathogenic, identified in ALD patient (73).
152990751 c.30G>A p.Trp10* exon 1 Pathogenic, identified in 3 ALD patients (7, 58). No detectable ALDP in patient cells (7).
152990757 c.36dupG p.Asn13Glufs*182 exon 1 Pathogenic, identified in ALD patient (32). Deleterious mutation.
152990759 c.38A>C p.Asn13Thr exon 1 Benign variant (X:152990759 A/C), confirmed by biochemical testing (48).
152990761 c.40A>G p.Thr14Ala exon 1 VUS (X:152990761 A/G).
152990762 c.41C>G p.Thr14Arg exon 1 VUS (X:152990762 C/G).
152990767 c.[46A>T; 706C>T] p.[Lys16*; Arg236Cys] exon 1 Pathogenic, identified in 2 ALD patients (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 ALD patient (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 ALD patient (16). No detectable ALDP in patient cells (146).
152990788 c.67_83del p.Ala23Serfs*166 exon 1 Pathogenic, identified in 2 ALD patients (71, 150). Deleterious mutation.
152990801 c.80A>C p.Tyr27Ser exon 1 Probably pathogenic, identified in ALD patient (181).
152990811 c.90C>T p.His30His exon 1 Synonymous (X:152990811 C/T).
152990818 c.97_100del p.Tyr33Profs*34 exon 1 Pathogenic, identified in ALD patient (48). Deleterious mutation.
152990820 c.99C>A p.Tyr33* exon 1 Pathogenic, identified in ALD patient (105). Deleterious mutation.
152990820 c.99_102del p.Pro34Trpfs*33 exon 1 Pathogenic, identified in ALD patient (100). Deleterious mutation.
152990821 c.100C>T p.Pro34Ser exon 1 VUS (X:152990821 C/T).
152990823 c.102delinsAT p.Leu35Phefs*160 exon 1 Pathogenic, identified in ALD patient (24). Deleterious mutation.
152990823 c.102dup p.Val36Glyfs*159 exon 1 Pathogenic, identified in ALD patient (120). Deleterious mutation.
152990829 c.108G>A p.Val36Val exon 1 Synonymous (X:152990829 G/A).
152990830 c.109C>G p.Arg37Gly exon 1 Pathogenic, identified in ALD patient (32).
152990831 c.110_17del p.Arg37Profs*155 exon 1 Pathogenic, identified in 2 ALD patients (33, 72). Deleterious mutation.
152990833 c.112C>T p.Gln38* exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152990836 c.115_31delinsGCA p.Cys39Lysfs*151 exon 1 Pathogenic, identified in ALD patient (60). No detectable ALDP in patient cells (60).
152990840 c.119_47del p.Leu40Argfs*145 exon 1 Pathogenic, identified in ALD patient (52). Deleterious mutation.
152990846 c.125delC p.Pro42Argfs*26 exon 1 Pathogenic, identified in ALD patient (96). Deleterious mutation.
152990846 c.125_26insC p.Ala43Glyfs*152 exon 1 Pathogenic, identified in 3 ALD patients (33, 49). Deleterious mutation.
152990859 c.138_39insT p.Gln47Serfs*148 exon 1 Pathogenic, identified in ALD patient (7). Deleterious mutation.
152990860 c.139C>T p.Gln47* exon 1 Pathogenic, identified in 4 ALD patients (33, 58, 105). Deleterious mutation. No detectable ALDP in patient cells (58).
152990866 c.145_46insCGAC p.Ala50Thrfs*146 exon 1 Pathogenic, identified in ALD patient (63). No detectable ALDP in patient cells (63).
152990868 c.147C>T p.Pro49Pro exon 1 Synonymous (X:152990868 C/T).
152990871 c.150dup p.Gly51Argfs*144 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation. No detectable ALDP in patient cells (58).
152990875 c.154G>T p.Glu52* exon 1 Pathogenic, identified in ALD patient (38). Deleterious mutation.
152990875 c.154dup p.Glu52Glyfs*143 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152990876 c.155_56insG p.Pro53Alafs*142 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152990884 c.163C>T p.Gln55* exon 1 Pathogenic, identified in ALD patient (100). Deleterious mutation.
152990892 c.171C>G p.Ala57Ala eonx 1 Synonymous (X:152990892 C/G).
152990894 c.173C>T p.Ser58Phe exon 1 VUS (X:152990894 C/T).
152990902 c.181G>A p.Ala61Thr exon 1 VUS (X:152990902 G/A).
152990907 c.186G>A p.Ala62Ala exon 1 Synonymous (X:152990907 G/A).
152990941 c.220C>T p.Arg74Trp exon 1 Pathogenic, identified in 9 ALD patients (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 ALD patient (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 2 ALD patients (58, 111). No detectable ALDP in patient cells (58).
152990952 c.231G>T p.Trp77Cys exon 1 VUS (X:152990952 G/T).
152990953 c.232_40del p.Arg80_Leu82del exon 1 Pathogenic, identified in 2 ALD patients (38, 58). No detectable ALDP in patient cells (58).
152990955 c.234_42del p.Arg80_Leu82del exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152990955 c.234_42dupCCTGCGGCT p.Arg80_Leu82dup exon 1 Pathogenic, identified in 3 ALD patients (33). Deleterious mutation.
152990961 c.240_41insTTTGCG p.Arg80_Leu81insPheAla exon 1 Pathogenic, identified in ALD patient (27). Deleterious mutation.
152990961 c.240_41insTCCTGCGGC p.Arg80_Leu81insSerCysGly exon 1 Pathogenic, identified in 2 ALD patients (64, 132). Deleterious mutation.
152990964 c.244_245insCTGCGGCTC p.Leu81_Leu82insProAlaAla exon 1 Pathogenic, identified in 4 ALD patients (28, 33). Deleterious mutation. (Originally reported as: c.243-44insCCTGCGGCT)
152990969 c.248del p.Phe83Serfs*20 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152990970 c.249C>T p.Phe83Phe exon 1 Synonymous (X:152990970 C/T).
152990971 c.250C>T p.Pro84Ser exon 1 Pathogenic, identified in ALD patient (90).
152990972 c.251C>T p.Pro84Leu exon 1 Pathogenic, identified in ALD patient (33).
152990974 c.253dup p.Arg85Profs*110 exon 1 Pathogenic, identified in 15 ALD patients (33, 49, 60, 62, 119, 138, 155). No detectable ALDP in patient cells (60).
152990974 c.253del p.Arg85Glyfs*18 exon 1 Pathogenic, identified in ALD patient (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).
152990979 c.258C>T p.Val86Val exon 1 Synonymous (X:152990979 C/T).
152990979 c.258C>G p.Val86Val exon 1 Synonymous (X:152990979 C/G).
152990985 c.264C>A p.Cys88* exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152990985 c.264C>G p.Cys88Trp exon 1 Pathogenic, identified in 3 ALD patients (63). No detectable ALDP in patient cells (63).
152990986 c.265C>T p.Arg89Trp exon 1 VUS (X:152990986 C/T).
152990989 c.268G>A p.Glu90Lys exon 1 Pathogenic, identified in 2 ALD patients (49).
152990989 c.268G>T p.Glu90* exon 1 Pathogenic, identified in ALD patient (141). No detectable ALDP in patient cells (141).
152990991 c.270-71del p.Glu90Aspfs*104 exon 1 Pathogenic, identified in 2 ALD patients (93). Deleterious mutation.
152990995 c.274G>A p.Gly92Arg exon 1 VUS (X:152990995 G/A).
152990995 c.274_311del p.Gly92Hisfs*90 exon 1 Pathogenic, identified in 3 ALD patients (4, 158). Deleterious mutation.
152990996 c.275G>T p.Gly92Val exon 1 VUS (X:152990996 G/T).
152990998 c.277del p.Leu93Cysfs*10 exon 1 Pathogenic, identified in ALD patient (16). Deleterious mutation.
152990998 c.277_96dup p.Ala100Cysfs*10 exon 1 Pathogenic, identified in 2 ALD patients (111, 149). Deleterious mutation.
152991001 c.280_81insGAGACGGGGCTG p.Leu94delinsArgAspGlyAlaVal exon 1 Pathogenic, identified in ALD patient (96).
152991005 c.284C>A p.Ala95Asp exon 1 Pathogenic, identified in 6 ALD patients. No detectable ALDP in patient cells (109).
152991008 c.287_88insCC p.His97Argfs*7 exon 1 Pathogenic, identified in ALD patient (40). Deleterious mutation.
152991011 c.290A>C p.His97Pro exon 1 Pathogenic, identified in 4 ALD patients (33, 142, 170).
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 ALD patient (58). Reduced ALDP in patient cells (58).
152991014 c.293C>A p.Ser98* exon 1 Pathogenic, identified in 2 ALD patients (32, 105). Deleterious mutation.
152991014 c.293C>T p.Ser98Leu exon 1 Pathogenic, identified in 11 ALD patients (7, 33, 48, 49, 58, 98). Normal ALDP level in patient cells (7), but non-functional.
152991014 c.293C>G p.Ser98Trp exon 1 Pathogenic, identified in 3 ALD patients (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 ALD patient (38). Deleterious mutation.
152991016 c.295_98dup p.Ala100Glyfs*96 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991017 c.296C>A p.Ala99Asp exon 1 Pathogenic, identified in ALD patient (48).
152991019 c.298del p.Ala100Profs*3 exon 1 Pathogenic, identified in ALD patient (28). Deleterious mutation.
152991021 c.300C>G p.Ala100Ala exon 1 Synonymous (X:152991021 C/G).
152991022 c.301T>A p.Lys101Met exon 1 Pathogenic, identified in ALD patient (33).
152991026 c.305T>A p.Val102Glu exon 1 Pathogenic, identified in ALD patient (60).
152991030 c.309C>G p.Ser103Arg exon 1 Pathogenic, identified in 2 ALD patients (29, 53). Reduced ALDP in patient cells (53).
152991031 c.310C>T p.Arg104Cys exon 1 Pathogenic, identified in 12 ALD patients (13, 16, 33, 42, 62, 97, 125, 146). Reduced ALDP (35% of control cells) in patient cells (33, 97, 146).
152991032 c.311G>A p.Arg104His exon 1 Pathogenic, identified in 8 ALD patients (4, 32, 33, 47, 49, 132, 137).
152991032 c.311G>T p.Arg104Leu exon 1 Pathogenic, identified in ALD patient (33).
152991032 c.311G>C p.Arg104Pro exon 1 Pathogenic, identified in ALD patient (114).
152991034 c.313A>C p.Thr105Pro exon 1 Pathogenic, identified in 4 ALD patients (33, 38, 158).
152991035 c.314C>T p.Thr105Ile exon 1 Pathogenic, identified in ALD patient (7). No detectable ALDP in patient cells (7).
152991040 c.319del p.Leu107Cysfs*91 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991041 c.320T>C p.Leu107Pro exon 1 Pathogenic, identified in 6 ALD patients (15, 178).
152991041 c.320T>G p.Leu107Arg exon 1 Pathogenic, identified in ALD patient (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 patients (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 ALD patient (86). p.Ser108* is deleterious.
152991044 c.323C>T p.Ser108Leu exon 1 Pathogenic, identified in 11 ALD patients (33, 34, 53, 62, 90, 137, 156). Normal ALDP level in patient cells (53), but non-functional.
152991044 c.323C>G p.Ser108Trp exon 1 Pathogenic, identified in 3 ALD patients (7, 53). Reduced ALDP in patient cells (7).
152991046 c.325del p.Val109Cysfs*89 exon 1 Pathogenic, identified in 3 ALD patients (32). Deleterious mutation.
152991047 c.326T>C p.Val109Ala exon 1 VUS (X:152991047 T/C).
152991058 c.337delC p.Arg113Alafs*85 exon 1 Pathogenic, identified in 7 ALD patients (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 patients (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 patients (33, 49).
152991062 c.341T>C p.Leu114Pro exon 1 Pathogenic, identified in ALD patient (53). Reduced ALDP in patient cells (53).
152991067 c.346G>A p.Gly116Arg exon 1 Pathogenic, identified in 10 ALD patients (7, 29, 32, 33, 58, 145). Reduced ALDP in patient cells (7).
152991067 c.346G>T p.Gly116* exon 1 Pathogenic, identified in 2 ALD patients (137). Deleterious mutation.
152991068 c.347_48delGAinsAT p.Gly116Asp exon 1 Pathogenic, identified in ALD patient (120).
152991068 c.347G>A p.Gly116Glu exon 1 Pathogenic, identified in 3 ALD patients (57, 87, 88)
152991073 c.352delCT p.Leu118Glyfs*76 exon 1 Pathogenic, identified in ALD patient (52). Deleterious mutation.
152991076 c.355del p.Ala119Profs*79 exon 1 Pathogenic, identified in 2 ALD patients (178). Deleterious mutation.
152991076 c.355G>T p.Ala119Ser exon 1 VUS (X:152991076 G/T).
152991077 c.356C>A p.Ala119Asp exon 1 Pathogenic, identified in 2 ALD patients (33).
152991079 c.358C>G p.Arg120Gly exon 1 VUS (X:152991079 C/G).
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 patients (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 Pathogenic, identified in ALD patient (33).
152991096 c.375_78del p.Lys125Asnfs*72 exon 1 Pathogenic, identified in ALD patient (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).
152991104 c.383G>A p.Arg128Gln exon 1 VUS (X:152991104 G/A).
152991106 c.385dup p.Ala129Glyfs*66 exon 1 Pathogenic, identified in 2 ALD patients (59, 64). Deleterious mutation.
152991108 c.387del p.Phe130Leufs*68 exon 1 Pathogenic, identified in ALD patient (29). Deleterious mutation.
152991113 c.392G>T p.Gly131Val exon 1 Benign, based on its frequency of 10/66881 control alleles (X:152991113 G/T).
152991116 c.395G>A p.Trp132* exon 1 Pathogenic, identified in 3 ALD patients (71, 94, 150). Deleterious mutation.
152991117 c.396G>A p.Trp132* exon 1 Pathogenic, identified in 8 ALD patients (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 Pathogenic, identified in ALD patient (95).
152991122 c.401_05delinsAGCATT p.Leu134Glnfs*61 exon 1 Pathogenic, identified in ALD patient (19). Deleterious mutation.
152991127 c.406C>T p.Gln136* exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991131 c.410G>A p.Trp137* exon 1 Pathogenic, identified in 3 ALD patients (96, 98). Deleterious mutation.
152991132 c.411G>A p.Trp137* exon 1 Pathogenic, identified in 6 ALD patients (16, 33, 49, 58, 62). No detectable ALDP in patient cells (49, 146).
152991132 c.411G>T p.Trp137Cys exon 1 Pathogenic, identified in 3 ALD patients (32). No detectable ALDP in patient cells (32).
152991132 c.411_12insC p.Leu138Profs*57 exon 1 Pathogenic, identified in ALD patient (100). Deleterious mutation.
152991133 c.412_23del p.Leu139_Leu142del exon 1 Pathogenic, identified in ALD patient (15). Deleterious mutation.
152991133 c.412_14del p.Leu139del exon 1 Pathogenic, identified in 2 ALD patients (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 16 ALD patients (13, 59, 64, 88, 93, 111, 137, 174, 178).
152991143 c.422C>T p.Ala141Val exon 1 Pathogenic, identified in ALD patient (33).
152991145 c.424del p.Leu142Serfs*56 exon 1 Pathogenic, identified in ALD patient (125). Deleterious mutation.
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 patients (98).
152991148 c.427C>T p.Pro143Ser exon 1 Pathogenic, identified in 5 ALD patients (33, 34, 38, 49, 88).
152991149 c.428C>A p.Pro143His exon 1 Pathogenic, identified in 2 ALD patients (58, 98). Normal ALDP level in patient cells (58), but non-functional.
152991149 c.428C>T p.Pro143Leu exon 1 Pathogenic, identified in ALD patient (33).
152991153 c.432_46delinsCCC p.Thr145_Ser149delinsPro exon 1 Pathogenic, identified in ALD patient (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 VUS (X:152991157 T/A).
152991157 c.436T>G p.Phe146Val exon 1 VUS (X:152991157 T/G).
152991160 c.439G>A p.Val147Ile exon 1 VUS (X:152991160 G/A).
152991160 c.439_41del p.Val147del exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991161 c.440T>G p.Val147Gly exon 1 Pathogenic, identified in ALD patients (32). Normal ALDP level in patient cells (32), but non-functional.
152991161 c.442_444delinsTGTTGA p.Asn148_Thr745delinsCys exon 1 Pathogenic, identified in ALD patient (145). Deleterious mutation.
152991163 c.441_442dup p.Val147_Asn148insIle exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991163 c.442A>G p.Asn148Asp exon 1 Pathogenic, identified in 2 ALD patients (32, 86).
152991163 c.442A>T p.Asn148Tyr exon 1 Pathogenic, identified in ALD patient (60). Normal ALDP level in patient cells (60), but non-functional.
152991164 c.443A>G p.Asn148Ser exon 1 Pathogenic, identified in 12 ALD patients (7, 8, 24, 33, 38, 60, 93, 98, 158). Normal ALDP level in patient cells (7), but non-functional.
152991167 c.446G>A p.Ser149Asn exon 1 Pathogenic, identified in 22 ALD patients (16, 32, 49, 97, 141, 146). Reduced ALDP expression (77% of control cells) in patient cells (97).
152991175 c.454C>A p.Arg152Ser exon 1 Pathogenic, identified in 5 ALD patients (29, 33, 49).
152991175 c.454C>T p.Arg152Cys exon 1 Pathogenic, identified in 13 ALD patients (7, 13, 32, 33, 49, 52, 63, 88, 168). Normal ALDP level in patient cells (7, 32, 49, 52), but non-functional.
152991176 c.455G>C p.Arg152Pro exon 1 Pathogenic, identified in 2 ALD patients (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 patients (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 patients (33, 88).
152991183 c.462_81del p.Glu155Valfs*33 exon 1 Pathogenic, identified in ALD patient (44). Deleterious mutation.
152991190 c.469C>T p.Gln157* exon 1 Pathogenic, identified in 4 ALD patients (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).
152991194 c.473T>C p.Leu158Pro exon 1 Pathogenic, identified in 2 ALD patients (33, 125).
152991197 c.476C>G p.Ala159Gly exon 1 VUS (X:152991197 C/G).
152991197 c.476_99del p.Ala159_Leu166del exon 1 Pathogenic, identified in 2 ALD patients (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 3 ALD patients (70, 111, 158).
152991202 c.481T>C p.Ser161Pro exon 1 Pathogenic, identified in ALD patient (49).
152991203 c.482C>A p.Ser161* exon 1 Pathogenic, identified in 2 ALD patients (29, 88). Deleterious mutation.
152991204 c.483G>A p.Ser161Ser exon 1 Synonymous (X:152991204 G/A).
152991208 c.487C>G p.Arg163Gly exon 1 Pathogenic, identified in ALD patient (163).
152991209 c.488G>A p.Arg163His exon 1 Pathogenic, identified in ALD patient (16). No detectable ALDP in patient cells (32).
152991209 c.488G>T p.Arg163Leu exon 1 Pathogenic, identified in 2 ALD patients (33, 116).
152991209 c.488G>C p.Arg163Pro exon 1 Pathogenic, identified in 9 ALD patients (33, 41, 49, 57).
152991215 c.494del p.Arg165Leufs*33 exon 1 Pathogenic, identified in ALD patient (52). Deleterious mutation.
152991216 c.495_514del p.Leu166Profs*22 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991217 c.496_97insG p.Leu166Argfs*29 exon 1 Pathogenic, identified in 3 ALD patients (61). 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 Pathogenic, identified in ALD patient (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).
152991231 c.510delC p.Tyr171Thrfs*27 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991232 c.511T>C p.Tyr171His exon 1 VUS (X:152991232 T/C).
152991233 c.512A>C p.Tyr171Ser exon 1 Pathogenic, identified in ALD patient (32).
152991235 c.514C>T p.Arg172Cys exon 1 VUS (X:152991235 C/T).
152991235 c.514delC p.Arg172Alafs*26 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991236 c.515G>A p.Arg172His exon 1 VUS (X:152991236 G/A).
152991236 c.515_16insC p.Leu173Profs*23 exon 1 Pathogenic, identified in ALD patient (47, 166). Deleterious mutation. No detectable ALDP in patient cells (166).
152991239 c.518T>C p.Leu173Pro exon 1 Pathogenic, identified in ALD patient (52).
152991241 c.520T>C p.Tyr174His exon 1 Pathogenic, identified in ALD patient (33).
152991241 c.520T>G p.Tyr174Asp exon 1 Pathogenic, identified in 3 ALD patients (8, 15).
152991242 c.521A>G p.Tyr174Cys exon 1 Pathogenic, identified in 29 ALD patients (29, 32, 33, 47, 49, 60, 62, 88, 93, 120, 137). No detectable ALDP in patient cells (32, 49, 60).
152991242 c.521A>C p.Tyr174Ser exon 1 Pathogenic, identified in 5 ALD patients (33, 60, 88, 145). Normal ALDP level in patient cells (60), but non-functional.
152991243 c.522_24del p.Phe175del exon 1 Pathogenic, identified in ALD patient (53). Reduced ALDP expression in patient cells (53).
152991245 c.524_26del p.Phe175del exon 1 Pathogenic, identified in ALD patient (32).
152991250 c.529C>A p.Gln177Lys exon 1 Pathogenic, identified in ALD patient (93).
152991250 c.529C>T p.Gln177* exon 1 Pathogenic, identified in 13 ALD patients (29, 32, 33, 49, 60, 62, 86, 88, 137, 141). 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 patients (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 patients (4, 38).
152991253 c.532C>T p.Gln178* exon 1 Pathogenic, identified in ALD patient (125). 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 ALD patient (60). Deleterious mutation. No detectable ALDP expression in patient cells (60).
152991262 c.541_42del p.Tyr181Profs*13 exon 1 Pathogenic, identified in ALD patient (7). Deleterious mutation. No detectable ALDP expression in patient cells (7).
152991263 c.542A>G p.Tyr181Cys exon 1 Pathogenic, identified in ALD 6 patients (7, 32, 49, 52, 63, 88). No detectable ALDP in patient cells (32).
152991264 c.543C>A p.Tyr181* exon 1 Pathogenic, identified in 7 ALD patients (16, 32, 146). Deleterious mutation. No detectable ALDP in patient cells (32, 146).
152991258 c.544_45insCTACTACC p.Arg182Profs*19 exon 1 Pathogenic, identified in ALD patient (49). Deleterious mutation.
152991266 c.545G>C p.Arg182Pro exon 1 Pathogenic, identified in 10 ALD patients (13, 33, 59, 64, 132, 137).
152991269 c.548T>G p.Val183Gly exon 1 Pathogenic, identified in ALD patient (33).
152991276 c.555C>A p.Asn185Lys exon 1 VUS (X:152991276 C/A).
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).
152991286 c.565C>T p.Arg189Trp exon 1 Pathogenic, identified in 4 ALD patients (29, 33, 60). Normal ALDP level in patient cells (60), but non-functional.
152991287 c.566G>A p.Arg189Gln exon 1 Pathogenic, identified in ALD patient (33).
152991290 c.569T>C p.Leu190Pro exon 1 Pathogenic, identified in ALD patient (38).
152991301 c.580G>A p.Asp194Asn exon 1 Pathogenic, identified in 2 ALD patients (16, 58). Affects ALDP stability in patient cells (58).
152991301 c.580G>C p.Asp194His exon 1 Pathogenic, identified in 7 ALD patients (32, 58, 97, 146). Affects ALDP stability (60% of control cells (97)) in patient cells (58, 97, 146).
152991302 c.581_89del p.Asp194_Leu197delinsVal exon 1 Pathogenic, identified in ALD patient (51).
152991303 c.582C>G p.Asp194Glu exon 1 Pathogenic, identified in ALD patient (32).
152991304 c.583C>T p.Gln195* exon 1 Pathogenic, identified in ALD patient (49). Deleterious mutation.
152991309 c.588_89delCT p.Leu197Aspfs*103 exon 1 Pathogenic, identified in 2 ALD patients (33, 105). Deleterious mutation.
152991312 c.591_92insT p.Thr198Tyrfs*103 exon 1 Pathogenic, identified in ALD patient (24). Deleterious mutation.
152991314 c.593C>A p.Thr198Lys exon 1 Pathogenic, identified in ALD patient (49).
152991314 c.593C>G p.Thr198Arg exon 1 Pathogenic, identified in ALD patient (96).
152991314 c.593C>T p.Thr198Met exon 1 Pathogenic, identified in ALD patient (33).
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 patients (33, 100).
152991319 c.598G>A p.Asp200Asn exon 1 Pathogenic, identified in 2 ALD patients (24, 100).
152991319 c.598delC p.Asp200Thrfs*16 exon 1 Pathogenic, identified in ALD patient (90). Deleterious mutation.
152991320 c.599A>T p.Asp200Val exon 1 Pathogenic, identified in ALD patient (7).
152991321 c.600C>T p.Asp200Asp exon 1 Synonymous (X:152991321 C/T).
152991322 c.601G>A p.Val201Met exon 1 VUS (X:152991322 G/A).
152991333 c.612del p.Phe204Leufs*12 exon 1 Pathogenic, identified in ALD patient (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 2 ALD patients (33).
152991335 c.614_622dup p.Ala205_Ser207dup exon 1 Pathogenic, identified in 2 ALD patients (29, 49). (Originally reported as c.622_23insCGGCCTCTG).
152991336 c.615G>A p.Ala205Ala exon 1 Synonymous (X:152991336 G/A).
152991339 c.621_900+384del664 p.Val208Trpfs*35 exon 1 Pathogenic, identified in 5 ALD patient (32, 49, 141). Deleterious mutation. No detectable ALDP expression in patient cells (32, 49, 141).
152991340 c.619_27del p.Ser207_Ala209del exon 1 Pathogenic, identified in ALD patient (62). No detectable ALDP expression in patient cells (62).
152991343 c.622_634del p.Val208Thrfs*4 exon 1 Pathogenic, identified in ALD patient (15). Deleterious mutation. (Originally reported as c.618_30del).
152991343 c.622dupG p.Val208Glyfs*93 exon 1 Pathogenic, identified in ALD patient (86). Deleterious mutation.
152991344 c.623T>A p.Val208Glu exon 1 Pathogenic, identified in 2 ALD patients (158).
152991353 c.632T>C p.Leu211Pro exon 1 Pathogenic, identified in 2 ALD patients (15, 177).
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 patients (4, 38, 38, 158). Deleterious mutation.
152991359 c.638C>G p.Ser213Cys exon 1 Pathogenic, identified in 2 ALD patients (27, 158).
152991359 c.638C>T p.Ser213Phe exon 1 Pathogenic, identified in ALD patient (32).
152991361 c.640A>G p.Asn214Asp exon 1 Pathogenic, identified in 2 ALD patients (24, 90).
152991364 c.643del p.Leu215* exon 1 Pathogenic, identified in 5 ALD patients (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 patients (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 ALD patient (88). Deleterious mutation.
152991373 c.652C>A p.Pro218Thr exon 1 Pathogenic, identified in 6 ALD patients (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 patients (98). Unclear which of the variants is pathogenic.
152991374 c.653C>G p.Pro218Arg exon 1 Pathogenic, identified in 3 ALD patients (175).
152991380 c.659T>C p.Leu220Pro exon 1 Pathogenic, identified in 28 ALD patients (16, 32, 97, 141, 146). 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 ALD patient (33). Deleterious mutation.
152991383 c.662A>G p.Asp221Gly exon 1 Pathogenic, identified in 3 ALD patients (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 patients (98). Unclear which of the variants is pathogenic.
152991385 c.664G>A p.Val222Met exon 1 VUS (X:152991385 G/A).
152991385 c.664_70dup p.Val224Glyfs*79 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991389 c.668C>A p.Ala223Asp exon 1 Pathogenic, identified in 2 ALD patients (33, 113).
152991392 c.671T>G p.Val224Gly exon 1 Pathogenic, identified in 2 ALD patients (33, 49).
152991395 c.674C>T p.Thr225Ile exon 1 VUS (X:152991395 C/T).
152991398 c.677del p.Tyr227Thrfs*109 exon 1 Pathogenic, identified in 2 ALD patients (29, 33). Deleterious mutation.
152991402 c.681C>G p.Tyr227* exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991405 c.684_85insTACAC p.Leu229Tyrfs*109 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991407 c.686T>C p.Leu229Pro exon 1 Pathogenic, identified in 8 ALD patients (29, 33, 47, 49, 145).
152991412 c.691C>T p.Arg231Trp exon 1 Benign, based on its frequency of 21/84775 control alleles (X:152991412 C/T).
152991413 c.692G>A p.Arg231Gln exon 1 VUS (X:152991413 G/A).
152991413 c.692_94delinsC p.Arg231Profs*69 exon 1 Pathogenic, identified in ALD patient (172). Deleterious mutation.
152991414 c.693_94del p.Ala232Glyfs*68 exon 1 Pathogenic, identified in 2 ALD patients (3, 33). Deleterious mutation. No detectable ALDP expression in patient cells (33).
152991416 c.695_696del p.Ala232Glyfs*68 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation. No detectable ALDP expression in patient cells (58).
152991416 c.695_96insG p.Ala233Glyfs*68 exon 1 Pathogenic, identified in ALD patient (96). Deleterious mutation.
152991417 c.696-706del11 p.Ala233Trpfs*64 exon 1 Pathogenic, identified in ALD patient (100). Deleterious mutation.
152991417 c.696G>T p.Ala232Ala exon 1 Synonymous (X:152991417 G/T).
152991417 c.696G>A p.Ala232Ala exon 1 Synonymous (X:152991417 G/A).
152991418 c.697_900+25del p.Ala233Glyfs*100 exon 1 Pathogenic, identified in ALD patient (48). Deleterious mutation.
152991422 c.701G>A p.Arg234His exon 1 VUS (X:152991422 G/A).
152991427 c.706C>T p.Arg236Cys exon 1 Pathogenicity of the variant p.Arg236Cys is unclear. It was 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 ALD patient (49). Deleterious mutation.
152991428 c.707G>A p.Arg236His exon 1 Benign, based on its frequency of 92/83123 control alleles (X:152991428 G/A).
152991431 c.710G>T p.Gly237Val exon 1 VUS (X:152991431 G/T).
152991433 c.712G>A p.Ala238Thr exon 1 VUS (X:152991433 G/A).
152991435 c.714C>T p.Ala238Ala exon 1 Synonymous (X:152991435 C/T).
152991445 c.724_28del p.Trp242Leufs*57 exon 1 Pathogenic, identified in ALD patient (3). Deleterious mutation.
152991446 c.725G>A p.Trp242* exon 1 Pathogenic, identified in ALD patient (96). Deleterious mutation.
152991447 c.726G>A p.Trp242* exon 1 Pathogenic, identified in 6 ALD patients (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 ALD patient (33). Deleterious mutation.
152991451 c.730_31delinsGAGA p.Ser244Glufs*93 exon 1 Pathogenic, identified in 4 ALD patients (37). Deleterious mutation.
152991453 c.732G>A p.Ser244Ser exon 1 Synonymous (X:152991453 G/A).
152991455 c.734C>A p.Ala245Asp exon 1 Pathogenic, identified in ALD patient (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 ALD patient (52). Deleterious mutation.
152991460 c.739_40insGCCATCG p.Ala247Glyfs*56 exon 1 Pathogenic, identified in ALD patient (93). Deleterious mutation.
152991463 c.742G>A p.Gly248Ser exon 1 VUS (X:152991463 G/A).
152991463 c.742_45del p.Gly248Serfs*87 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991469 c.748_59del p.Val250_Leu253del exon 1 Pathogenic, identified in ALD patient (33).
152991470 c.749_51del p.Val251del exon 1 Pathogenic, identified in ALD patient (33).
152991471 c.750G>A p.Val250Val exon 1 Synonymous (X:152991471 G/A).
152991478 c.757C>G p.Leu253Val exon 1 Benign, based on its frequency of 91/67144 control alleles (X:152991478 C/G).
152991478 c.757_65delinsGAGG p.Leu253Glufs*46 exon 1 Pathogenic, identified in ALD patient (60). Deleterious mutation.
152991482 c.760A>G p.Thr254Ala exon 1 Pathogenic, identified in ALD patient (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 patients (33, 90).
152991481 c.761delC p.Thr254Argfs*82 exon 1 Pathogenic, identified in 2 ALD patients (81, 104). Deleterious mutation.
152991482 c.761C>A p.Thr254Lys exon 1 Pathogenic, identified in 2 ALD patients (33, 52).
152991482 c.761C>T p.Thr254Met exon 1 Pathogenic, identified in 3 ALD patients (15, 33, 105).
152991484 c.763G>A p.Ala255Thr exon 1 VUS (X:152991484 G/A).
152991489 c.768C>T p.Asn256Asn exon 1 Synonymous (X:152991489 C/T).
152991494 c.773T>C p.Leu258Pro exon 1 Pathogenic, identified in ALD patient (33).
152991496 c.775C>T p.Arg259Trp exon 1 Pathogenicity of the variant p.Arg259Trp is unclear. 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).
152991505 c.784_785del p.Ser262Alafs*38 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991506 c.785_91del p.Ser262Cysfs*72 exon 1 Pathogenic, identified in 4 ALD patients (16). Deleterious mutation.
152991506 c.785C>A p.Ser262* exon 1 Pathogenic, identified in ALD patient (120). Deleterious mutation.
152991506 c.785C>G p.Ser262Trp exon 1 Pathogenic, identified in ALD patient (32).
152991508 c.787C>T p.Pro263Ser exon 1 Pathogenic, identified in ALD patient (33).
152991509 c.788C>T p.Pro263Leu exon 1 Pathogenic, identified in ALD patient (7). Affects ALDP stability in patient cells (7).
152991511 c.790A>T p.Lys264* exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991517 c.796G>A p.Gly266Arg exon 1 Pathogenic, identified in 31 ALD patients (8, 16, 24, 33, 49, 52, 53, 59, 62, 64, 67, 72, 88, 90, 93, 96, 105, 132, 137, 162). Normal ALDP level in patient cells (53, 72), but non-functional.
152991517 c.796G>C p.Gly266Arg exon 1 Pathogenic, identified in ALD patient (58). Normal ALDP level in patient cells (58), but non-functional.
152991518 c.797G>A p.Gly266Glu exon 1 Pathogenic, identified in 3 ALD patients (49, 96).
152991520 c.799G>A p.Glu267Lys exon 1 Pathogenic, identified in ALD patient (51).
152991520 c.799G>T p.Glu267* exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991520 c.799del p.Glu267Serfs*69 exon 1 Pathogenic, identified in ALD patient (15). Deleterious mutation.
152991530 c.809C>T p.Ala270Val exon 1 VUS (X:152991530 C/T).
152991532 c.811G>A p.Glu271Lys exon 1 Pathogenic, identified in ALD patient (24).
152991536 c.815_17del p.Glu272del exon 1 Pathogenic, identified in ALD patient (33).
152991539 c.818C>A p.Ala273Glu exon 1 Pathogenic, identified in ALD patient (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 2/31066 control alleles.
152991541 c.[820C>T; 838C>T] p.[Arg274Trp; Arg280Cys] exon 1 Pathogenic, identified in ALD patient (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).
152991544 c.823C>T p.Arg275Trp exon 1 Pathogenic, identified in 8 ALD patients (extended family screening) (181).
152991547 c.826A>G p.Lys276Glu exon 1 Pathogenic, identified in 2 ALD patients (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 patients (15, 158).
152991550 c.829G>A p.Gly277Arg exon 1 Pathogenic, identified in 5 ALD patients (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 4 ALD patients (27, 60). Normal ALDP level in patient cells (60), but non-functional.
152991550 c.829G>T p.Gly277Trp exon 1 Pathogenic, identified in 2 ALD patients (13, 27).
152991551 c.830G>A p.Gly277Glu exon 1 Pathogenic, identified in ALD patient (33).
152991553 c.832G>A p.Glu278Lys exon 1 VUS (X:152991553 G/A).
152991553 c.832G>T p.Glu278* exon 1 Pathogenic, identified in 2 ALD patients (32, 58). Deleterious mutation. No detectable ALDP expression in patient cells (58).
152991553 c.832_34delinsAC p.Glu278Thrfs*58 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991557 c.836T>C p.Leu279Pro exon 1 Pathogenic, identified in ALD patient (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 8 ALD patients (32, 33, 50, 60). Normal ALDP level in patient cells (60), but non-functional.
152991560 c.839G>T p.Arg280Leu exon 1 Pathogenic, identified in 2 ALD patients (55, 93).
152991568 c.847C>T p.His283Tyr exon 1 Pathogenic, identified in 5 ALD patients (32, 141). Affects ALDP stability in patient cells (32, 141).
152991568 c.847C>G p.His283Asp exon 1 Pathogenic, identified in 5 ALD patients (59, 64, 93, 132, 137).
152991569 c.848A>G p.His283Arg exon 1 Pathogenic, identified in 7 ALD patients (89, 93, 173).
152991572 c.851C>A p.Ser284* exon 1 Pathogenic, identified in ALD patient (32). Deleterious mutation. No detectable ALDP expression in patient cells (32).
152991573 c.852_53insACTC p.Arg285Thrfs*17 exon 1 Pathogenic, identified in 2 ALD patients (33, 104). Deleterious mutation.
152991573 c.852dup p.Arg285Alafs*16 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991574 c.853C>G p.Arg285Gly exon 1 Pathogenic, identified in ALD patient (145).
152991575 c.854G>C p.Arg285Pro exon 1 Pathogenic, identified in 2 ALD patients (27, 49).
152991580 c.859G>T p.Val287Leu exon 1 VUS (X:152991580 G/T).
152991590 c.869del p.Ser290Trpfs*46 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991590 c.869C>G p.Ser290Trp exon 1 Pathogenic, identified in ALD patient (90).
152991590 c.869C>A p.Ser290* exon 1 Pathogenic, identified in ALD patient (49). Deleterious mutation. No detectable ALDP expression in patient cells (49).
152991592 c.871G>A p.Glu291Lys exon 1 Pathogenic, identified in 7 ALD patients (5, 58, 59, 60, 64, 132, 137). No detectable ALDP expression in patient cells (58, 60).
152991593 c.872A>G p.Glu291Gly exon 1 Pathogenic, identified in 3 ALD patients (145).
152991594 c.873G>C p.Glu291Asp exon 1 Pathogenic, identified in 2 ALD patients (22, 33). No detectable ALDP expression in patient cells (22, 33).
152991595 c.874_76delGAG p.Glu292del exon 1 Pathogenic, identified in 22 ALD patients (15, 22, 24, 31, 32, 33, 49, 178). No detectable ALDP expression in patient cells (22, 32, 33, 49). (Also reported as p.Glu291del).
152991601 c.880G>A p.Ala294Thr exon 1 Pathogenic, identified in ALD patient (7, 32).
152991602 c.881C>T p.Arg294Val exon 1 Pathogenic, identified in ALD patient (33).
152991603 c.882_883insGC p.Phe295Alafs*42 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991606 c.885delinsTA p.Tyr296Ilefs*5 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991607 c.886_99del14 p.Tyr296Glyfs*100 exon 1 Pathogenic, identified in ALD patient (27). Deleterious mutation.
152991607 c.886T>C p.Tyr296His exon 1 Pathogenic, identified in ALD patient (33).
152991608 c.887A>G p.Tyr296Cys exon 1 Pathogenic, identified in 26 ALD patients (24, 33, 49, 52, 59, 62, 64, 88, 100, 115, 125, 132, 137). Normal ALDP level in patient cells (58), but non-functional.
152991608 c.887A>C p.Tyr296Ser exon 1 Pathogenic, identified in ALD patient (33).
152991609 c.888T>G p.Tyr296* exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation. No detectable ALDP expression in patient cells (58).
152991613 c.892G>C p.Gly298Arg exon 1 Pathogenic, identified in ALD patient (125).
152991613 c.892G>A p.Gly298Ser exon 1 Pathogenic, identified in 5 ALD patients (32, 33).
152991613 c.892_96delinsGTCA p.Gly298Valfs*38 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation. No detectable ALDP expression in patient cells (58).
152991613 c.892_93insGC p.His299Profs*38 exon 1 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152991614 c.893G>A p.Gly298Asp exon 1 Pathogenic, identified in ALD patient (29, 38, 58, 125). No detectable ALDP expression in patient cells (58).
152991614 c.893G>T p.Gly298Val exon 1 Pathogenic, identified in ALD patient (33).
152991614 c.893_94delinsT p.Gly298Valfs*38 exon 1 Pathogenic, identified in ALD patient (53, 84). Deleterious mutation. No detectable ALDP expression in patient cells (53).
152991614 c.893_894insG p.His299Alafs*2 exon 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991616 c.895C>T p.His299Tyr exon 1 VUS (X:152991616 C/T).
152991617 c.896A>G p.His299Arg exon 1 Pathogenic, identified in ALD patient (32).
152991621 c.900G>A p.Val301fs*34 exon 1 Pathogenic, identified in 3 ALD patients (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 patients (49, 59, 64, 132). Deleterious mutation.
152991622 c.900+1G>A p.Val301fs*? IVS 1 Pathogenic, identified in 2 ALD patients (100, 117). Deleterious mutation.
152991623 c.900+2T>C p.Val301fs*? IVS 1 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152991633 c.900+12T>A IVS 1 VUS (X:152991633 T/A).
152991648 c.900+27G>A IVS 1 VUS (X:152991648 G/A).
152991651 c.900+30G>A IVS 1 VUS (X:152991651 G/A).
152994671 c.901-16C>T IVS 1 Benign, based on its frequency of 668/86331 control alleles (X:152994671 C/T).
152994677 c.901-10C>T IVS 1 Benign, based on its frequency of 356/86393 control alleles (X:152994677 C/T).
152994678 c.901-9C>A IVS 1 VUS (X:152994678 C/A)
152994682 c.901-5C>T IVS 1 VUS (X:152994682 C/T).
152994683 c.901-4G>A IVS 1 VUS (X:152994683 G/A).
152994684 c.901-3C>G p.Val301fs*? IVS 1 Pathogenic, identified in ALD patient (60). No detectable ALDP in patient cells (60).
152994685 c.901-2A>C p.Val301fs*? IVS 1 Pathogenic, identified in ALD patient (68). Deleterious mutation.
152994686 c.901-1G>A p.Val301fs*? IVS 1 Pathogenic, identified in 6 ALD patients (33, 49, 62, 111, 125). Deleterious mutation.
152994690 c.904G>A p.Glu302Lys exon 2 Pathogenic, identified in 4 ALD patients (21, 58, 72). Affects ALDP stability in patient cells (58, 72).
152994690 c.904G>C p.Glu302Gln exon 2 Pathogenic, identified in ALD patient (32).Affects ALDP stability in patient cells (32).
152994691 c.905A>T p.Glu302Val exon 2 Pathogenic, identified in ALD patient (88).
152994691 c.905A>G p.Glu302Gly exon 2 Pathogenic, identified in ALD patient (33).
152994692 c.906G>A p.Glu302Glu exon 2 Synonymous (X:152994692 G/A).
152994692 c.906G>C p.Glu302Asp exon 2 Pathogenic, identified in ALD patient (137).
152994696 c.910del p.Ala304Profs*32 exon 2 Pathogenic, identified in ALD patient (84). Deleterious mutation.
152994701 c.915C>A p.Gln177Lys exon 2 Pathogenic, identified in ALD patient (93).
152994705 c.919C>T p.Gln307* exon 2 Pathogenic, identified in 5 ALD patients (62, 63, 127). 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).
152994709 c.923G>A p.Arg308His exon 2 VUS (X:152994709 G/A).
152994717 c.931C>T p.Gln311* exon 2 Pathogenic, identified in 4 ALD patients (2, 60). Deleterious mutation. No detectable ALDP in patient cells (60).
152994718 c.932dup p.Asp312Glyfs*89 exon 2 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152994719 c.933_34insA p.Asp312Argfs*89 exon 2 Pathogenic, identified in ALD patient (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 ALD patient (59, 64). Deleterious mutation.
152994724 c.938T>C p.Leu313Pro exon 2 Pathogenic, identified in 3 ALD patients (33, 88, 90).
152994726 c.940G>C p.Ala314Pro exon 2 Pathogenic, identified in ALD patient (93).
152994729 c.943del p.Ser315Argfs*21 exon 2 Pathogenic, identified in ALD patient (58). Deleterious mutation. No detectable ALDP in patient cells (58).
152994730 c.944C>T p.Ser315Leu exon 2 VUS (X:152994730 C/T).
152994730 c.944C>A p.Ser315* exon 2 Pathogenic, identified in ALD patient (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 patients (129).
152994750 c.964C>A p.Leu322Met exon 2 VUS (X:152994750 C/A).
152994751 c.965T>C p.Leu322Pro exon 2 Pathogenic, identified in 4 ALD patients (26, 33, 62, 135).
152994754 c.968A>T p.Glu323Val exon 2 VUS (X:152994754 A/T).
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 patients (33, 125).
152994763 c.977G>A p.Trp326* exon 2 Pathogenic, identified in 3 ALD patients (2, 60, 154). Deleterious mutation.
152994764 c.978G>A p.Trp326* exon 2 Pathogenic, identified in ALD patient (100). Deleterious mutation.
152994765 c.979_80insT p.Tyr327Leufs*74 exon 2 Pathogenic, identified in ALD patient (60). Deleterious mutation. No detectable ALDP expression in patient cells (60).
152994767 c.981T>A p.Tyr327* exon 2 Pathogenic, identified in ALD patient (38). Deleterious mutation.
152994768 c.982G>T p.Val328Phe exon 2 Pathogenic, identified in ALD patient (120).
152994772 c.986T>G p.Met329Arg exon 2 Pathogenic, identified in ALD patient (33).
152994774 c.988_1005del p.Leu330_Met335del exon 2 Pathogenic, identified in ALD patient (33).
152994777 c.991G>A p.Glu331Lys exon 2 Pathogenic, identified in ALD patient (33).
152994777 c.991G>T p.Glu331* exon 2 Pathogenic, identified in ALD patient (58). Deleterious mutation.
152994780 c.994C>T p.Gln332* exon 2 Pathogenic, identified in 2 ALD patients (63, 165). Deleterious mutation. No detectable ALDP expression in patient cells (63).
152994787 c.1001T>C p.Leu334Pro exon 2 Pathogenic, identified in ALD patient (33).
152994790 c.1004T>G p.Met335Arg exon 2 Pathogenic, identified in ALD patient (33).
152994793 c.1007A>T p.Lys336Met exon 2 Pathogenic, identified in ALD patient (49).
152994794 c.1008G>T p.Lys336Asn exon 2 Pathogenic, identified in ALD patient (32).
152994794 c.1008G>C p.Lys336Asn exon 2 Pathogenic, identified in ALD patient (145).
152994795 c.1009T>C p.Tyr337His exon 2 Pathogenic, identified in ALD patient (33).
152994797 c.1011T>A p.Tyr337* exon 2 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152994800 c.1014G>A p.Val338Val exon 2 Synonymous (X:152994800 G/A).
152994801 c.1015T>C p.Trp339Arg exon 2 Pathogenic, identified in ALD patient (38).
152994802 c.1016G>C p.Trp339Ser exon 2 Pathogenic, identified in ALD patient (145).
152994802 c.1016G>A p.Trp339* exon 2 Pathogenic, identified in ALD patient (33). Deleterious mutation.
152994803 c.1017G>T p.Trp339Cys exon 2 Pathogenic, identified in ALD patient (125).
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).
152994807 c.1021G>T p.Ala341Ser exon 2 VUS (X:152994807 G/T).
152994808 c.1022C>A p.Ala341Asp exon 2 Pathogenic, identified in ALD patient (104). Confirmed by functional studies (104).
152994810 c.1024T>C p.Ser342Pro exon 2 Pathogenic, identified in 3 ALD patients (22, 33). Normal ALDP level in patient cells (22, 33), but non-functional (22, 33).
152994813 c.1027G>A p.Gly343Ser exon 2 Pathogenic, identified in 2 ALD patients (63, 165).
152994814 c.1028G>A p.Gly343Asp exon 2 Pathogenic, identified in 2 ALD patients (33, 49).
152994814 c.1028G>T p.Gly343Val exon 2 Pathogenic, identified in 12 ALD patients (59, 64, 93, 108, 132, 137, 145, 174).
152994817 c.1031T>C p.Leu344Pro exon 2 Pathogenic, identified in ALD patient (33).
152994833 c.1047C>A p.Val349Val exon 2 Synonymous (X:152994833 C/A).
152994836 c.1050del p.Ile351Serfs*15 exon 2 Pathogenic, identified in ALD patient (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 patients (38). Deleterious mutation.
152994858 c.1072T>C p.Ser358Pro exon 2 Benign variant (X:152994858 T/C), confirmed by biochemical testing (139).
152994859 c.1073C>G p.Ser358* exon 2 Pathogenic, identified in 3 ALD patients (60, 100, 154). Deleterious mutation. No detectable ALDP expression in patient cells (60).
152994860 c.1074_75insA p.Glu359Argfs*42 exon 2 Pathogenic, identified in ALD patient (100). Deleterious mutation.
152994862 c.1076_77delAG p.Glu359Argfs*41 exon 2 Pathogenic, identified in 2 ALD patients (37, 145). Deleterious mutation.
152994865 c.1079C>G p.Ser360* exon 2 Pathogenic, identified in 2 ALD patients (33). Deleterious mutation.
152994868 c.1081+1G>T p.Asp361fs*? IVS 2 Pathogenic, identified in 2 ALD patients (32). Deleterious mutation.
152994872 c.1081+5G>T p.Asp361fs*? IVS 2 Pathogenic, identified in 2 ALD patients (32, 104). Deleterious mutation. No detectable ALDP expression in patient cells (104).
152994875 c.1081+8C>T IVS 2 VUS (X:152994875 C/T)
153001534 c.1082-32>delC IVS 2 Benign, based on its frequency of 20/69827 control alleles (X:153001534 GC/G)
153001535 c.1082-31C>T IVS 2 VUS (X:153001535 C/T)
153001539 c.1082-27G>A IVS 2 VUS (X:153001539 G/A)
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 44/78278 control alleles (X:153001547 C/G)
153001551 c.1082-15T>C IVS 2 VUS (X:153001551 T/C).
153001567 c.1083T>A p.Asp361Glu exon 3 VUS (X:153001567 T/A).
153001567 c.1083T>C p.Asp361Asp exon 3 Synonymous (X:153001567 T/C).
153001574 c.1090del p.Ala364Profs*2 exon 3 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001576 c.1092del p.Ala365* exon 3 Pathogenic, identified in ALD patient (48). Deleterious mutation.
153001576 c.1092_93insA p.Val365Serfs*36 exon 3 Pathogenic, identified in ALD patient (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).
153001580 c.1096A>T p.Lys366* exon 3 Pathogenic, identified in 3 ALD patients (181). Deleterious mutation.
153001593 c.1109T>A p.Leu370* exon 3 Pathogenic, identified in 3 ALD patients (120). Deleterious mutation.
153001598 c.1114A>T p.Lys372* exon 3 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001601 c.1117A>G p.Lys373Glu exon 3 VUS (X:153001601 A/G).
153001601 c.1117_19del p.Lys373del exon 3 Pathogenic, identified in ALD patient (33).
153001603 c.1119G>C p.Lys373Asn exon 3 VUS (X:153001603 G/C).
153001604 c.1120G>A p.Glu374Lys exon 3 VUS (X:153001604 G/A).
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).
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 ALD patient (7). Deleterious mutation. No detectable ALDP expression in patient cells (7).
153001621 c.1137dup p.Glu380Argfs*21 exon 3 Pathogenic, identified in ALD patient (104). Deleterious mutation.
153001622 c.1138G>A p.Glu380Lys exon 3 VUS (X:153001622 G/A).
153001625 c.1141C>T p.Arg381Cys exon 3 VUS (X:153001625 C/T).
153001626 c.1142G>A p.Arg381His exon 3 VUS (X:153001626 G/A).
153001634 c.1150G>A p.Ala384Thr exon 3 VUS (X:153001634 G/A).
153001635 c.1151C>G p.Ala384Gly exon 3 VUS (X:153001635 C/G).
153001636 c.1152C>T p.Ala384Ala exon 3 Synonymous (X:153001636 C/T).
153001639 c.1155del p.Phe385Leufs*8 exon 3 Pathogenic, identified in ALD patient (90). Deleterious mutation.
153001643 c.1159del p.Ile387Leufs*6 exon 3 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001647 c.1163_64insG p.Arg389Profs*12 exon 3 Pathogenic, identified in ALD patient (58). Deleterious mutation. No detectable ALDP in patient cells (58).
153001649 c.1165C>G p.Arg389Gly exon 3 Pathogenic, identified in 3 ALD patients (15, 60, 100).
153001649 c.1165C>T p.Arg389Cys exon 3 Pathogenic, identified in 6 ALD patients (58, 98).
153001649 c.[1165C>T; 1224+1gt>tg] p.[Arg389Cys; Val409fs*?] IVS 3 + exon 3 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001650 c.1166G>A p.Arg389His exon 3 Pathogenic, identified in 24 ALD patients (13, 16, 22, 32, 60, 97, 111, 139, 141, 146, 178). 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 patients (60). Deleterious mutation.
153001656 c.1172T>C p.Leu391Pro exon 3 Pathogenic, identified in ALD patient (68).
153001658 c.1174C>G p.Leu392Val exon 3 Pathogenic, identified in 2 ALD patients (33, 88).
153001658 c.1174_81delinsAAT p.Leu392Asnfs*7 exon 3 Pathogenic, identified in ALD patient (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 ALD patient (33). Deleterious mutation.
153001664 c.1180del p.Ala394Argfs*16 exon 3 Pathogenic, identified in 3 ALD patients (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 ALD patient (125). Deleterious mutation.
153001670 c.1186G>A p.Ala396Thr exon 3 Pathogenic, identified in 7 ALD patients (33, 60, 181). No detectable ALDP in patient cells (60).
153001674 c.1190A>G p.Asp397Gly exon 3 VUS (X:153001674 A/G).
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 17 ALD patients (24, 29, 32, 33, 51, 87, 88, 90, 96, 100, 145, 154).
153001685 c.1201C>G p.Arg401Gly exon 3 Pathogenic, identified in 2 ALD patients (100, 154).
153001686 c.1202G>A p.Arg401Gln exon 3 Pathogenic, identified in 36 ALD patients (8, 15, 22, 29, 32, 33, 40, 47, 49, 60, 71, 72, 86, 88, 93, 98, 105, 125, 126, 150, 158). Normal ALDP level in patient cells (22, 32, 33, 49, 60, 72), but non-functional.
153001689 c.1205T>A p.Ile402Asn exon 3 Pathogenic, identified in 2 ALD patients (131). No detectable ALDP in patient cells (131).
153001694 c.1210T>C p.Ser404Pro exon 3 Pathogenic, identified in 3 ALD patients (59, 64, 132).
153001695 c.1211C>A p.Ser404* exon 3 Pathogenic, identified in ALD patient (98). Deleterious mutation.
153001696 c.1212_14del p.Ser405del exon 3 Pathogenic, identified in ALD patient (84).
153001696 c.1212G>A p.Ser404Ser exon 3 Synonymous (X:153001696 G/A).
153001697 c.1213T>C p.Ser405Pro exon 3 Pathogenic, identified in ALD patient (137).
153001698 c.1214C>A p.Ser405* exon 3 Pathogenic, identified in ALD patient (145). Deleterious mutation.
153001699 c.1215G>A p.Ser405Ser exon 3 Synonymous (X:153001699 G/A).
153001703 c.1219A>T p.Lys407* exon 3 Pathogenic, identified in 2 ALD patients (33, 49). Deleterious mutation.
153001708 c.1224G>A p.Val409fs*? exon 3 Pathogenic, identified in 2 ALD patients (13). Deleterious mutation.
153001709 c.1224+1gt>tg p.Val409fs*? IVS 3 Pathogenic, identified in ALD patient (58). Deleterious mutation.
153001710 c.1224+2t>c p.Val409fs*? IVS 3 Pathogenic, identified in ALD patient (64). Deleterious mutation.
153001710 c.1224+2t>g p.Val409fs*? IVS 3 Pathogenic, identified in ALD patient (103). Deleterious mutation.
153001713 c.1224+5C>T IVS 3 VUS (X:153001713 C/T).
153001773 c.1225-26G>T IVS 3 VUS (X:153001773 G/T)
153001790 c.1225-9C>T IVS 3 VUS (X:153001790 C/T)
153001792 c.1225-7_1239del22 p.Val409fs*? IVS 3 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001797 c.1225-2a>c p.Val409fs*? IVS 3 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001797 c.1225-2a>g p.Val409fs*? IVS 3 Pathogenic, identified in ALD patient (96). Deleterious mutation.
153001802 c.1228A>T p.Thr410Ser exon 4 VUS (X:153001802 A/T).
153001804 c.1230G>A p.Thr410Thr exon 4 Synonymous (X:153001804 G/A).
153001803 c.1229C>T p.Thr410Met exon 4 VUS (X:153001803 C/T).
153001811 c.1237G>A p.Ala413Pro exon 4 Pathogenic, identified in ALD patient (33).
153001811 c.1237G>C p.Ala413Pro exon 4 Pathogenic, identified in ALD patient (33).
153001813 c.1239T>C p.Ala413Ala exon 4 Synonymous (X:153001813 T/C).
153001818 c.1244A>G p.Tyr415Cys exon 4 Pathogenic, identified in ALD patient (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 ALD patient (33). Deleterious mutation.
153001824 c.1250del p.Arg418Glyfs*23 exon 4 Pathogenic, identified in ALD patient (7). Deleterious mutation. No detectable ALDP in patient cells (7).
153001826 c.1252C>T p.Arg418Trp exon 4 Pathogenic, identified in 18 ALD patients (8, 15, 29, 33, 40, 58, 145, 177, 178). Affects ALDP stability in patient cells (33, 58, 165).
153001829 c.1255G>A p.Val419Met exon 4 VUS (X:153001829 G/A).
153001833 c.1259A>C p.His420Pro exon 4 Pathogenic, identified in ALD patient (104).
153001834 c.1260C>A p.His420Gln exon 4 VUS (X:153001834 C/A).
153001837 c.1263delG p.Met422Cysfs*19 exon 4 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001842 c.1268T>C p.Phe423Ser exon 4 Pathogenic, identified in ALD patient (145).
153001844 c.1270C>T p.Gln424* exon 4 Pathogenic, identified in 2 ALD patients (32). Deleterious mutation.
153001844 c.1270delC p.Gln424Argfs*17 exon 4 Pathogenic, identified in ALD patient (52). Deleterious mutation.
153001847 c.1273G>A p.Val425Ile exon 4 VUS (X:153001847 G/A).
153001853 c.1279_81del p.Glu427del exon 4 Pathogenic, identified in ALD patient (49).
153001862 c.1288C>T p.Gln430* exon 4 Pathogenic, identified in ALD patient (49). Deleterious mutation.
153001862 c.[1288C>T; 1390C>T] p.[Gln430*; Arg464*] exon 4 + exon 4 Pathogenic, identified in ALD patient (33). Two deleterious mutations.
153001865 c.1291C>T p.Arg431Cys exon 4 VUS (X:153001865 C/T).
153001866 c.1292G>A p.Arg431His exon 4 VUS (X:153001866 G/A).
153001869 c.1295G>A p.Cys432Tyr exon 4 VUS (X:153001869 G/A).
153001873 c.1299C>T p.His433His exon 4 Synonymous (X:153001873 C/T).
153001889 c.1315G>T p.Glu439* exon 4 Pathogenic, identified in ALD patient (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 patients (32, 141). Deleterious mutation. No detectable ALDP in patient cells (32, 141).
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).
153001904 c.1330C>T p.Gln444* exon 4 Pathogenic, identified in 3 ALD patients (32, 60). Deleterious mutation.
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).
153001928 c.1354C>T p.Arg452Trp exon 4 Benign, based on its frequency of 28/84636 control alleles (X:153001928 C/T).
153001929 c.1355G>A p.Arg452Gln exon 4 VUS (X:153001929 G/A).
153001932 c.1358delinsGA p.Ser453* exon 4 Pathogenic, identified in ALD patient (58). Deleterious mutation.
153001933 c.1359delT p.Gly454Valfs*8 exon 4 Pathogenic, identified in ALD patient (60). Deleterious mutation. No detectable ALDP in patient cells (60).
153001940 c.1366C>T p.Arg456Cys exon 4 VUS (X:153001940 C/T).
153001941 c.1367G>A p.Arg456His exon 4 VUS (X:153001941 G/A).
153001941 c.1367G>T p.Arg456Leu exon 4 VUS (X:153001941 G/T).
153001943 c.1369G>C p.Val457Leu exon 4 VUS (X:153001941 G/T).
153001946 c.1372G>T p.Glu458* exon 4 Pathogenic, identified in ALD patient (29). Deleterious mutation.
153001961 c.1387A>T p.Ile463Phe exon 4 VUS (X:153001961 A/T).
153001964 c.1390C>T p.Arg464* exon 4 Pathogenic, identified in 18 ALD patients (6, 32, 33, 47, 49, 59, 62, 64, 96, 105, 132, 141). Deleterious mutation. No detectable ALDP in patient cells (6, 32, 77, 141).
153001964 c.1390_91insA p.Arg464Glnfs*92 exon 4 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153001965 c.1391G>A p.Arg464Gln exon 4 VUS (X:153001965 G/A).
153001965 c.1391G>C p.Arg464Pro exon 4 VUS (X:153001965 G/C).
153001968 c.1393+1G>A p.Val425fs*92 IVS 4 Pathogenic, identified in ALD patient (135). Activation of cryptic spice site, confirmed by functional studies (135).
153001969 c.1393+2T>A p.Phe426Argfs*92 IVS 4 Pathogenic, identified in 6 ALD patients (159). Activation of cryptic spice site, confirmed by functional studies (159).
153002609 c.1394-2A>G p.Gly465fs*? IVS 4 Pathogenic, identified in 4 ALD patients (32, 71, 75, 150). Activation of cryptic spice site, confirmed by functional studies (75).
153002613 c.1396C>T p.Gln466* exon 5 Pathogenic, identified in 3 ALD patients (13, 32, 158). Deleterious mutation. No detectable ALDP in patient cells (32).
153002616 c.1399G>A p.Val467Met exon 5 VUS (X:153002616 G/A).
153002616 c.[1399G>A; 1850G>A] p.[Val467Met; Arg617His] exon 5 + exon 8 Pathogenic, identified in ALD patient (33). 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 patients (143).
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 patients (13). Deleterious mutation.
153002629 c.1412_13del p.Glu471Alafs*84 exon 5 Pathogenic, identified in 2 ALD patients (13). Deleterious mutation.
153002630 c.1413A>G p.Glu471Glu exon 5 Synonymous (X:153002630 A/G).
153002631 c.1414dupC p.Gln472Profs*84 exon 5 Pathogenic, identified in ALD patient (47). Deleterious mutation.
153002632 c.1415_16delAG p.Gln472Argfs*83 exon 5 Pathogenic, identified in 133 ALD patients (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). 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 ALD patient (33). Deleterious mutation.
153002637 c.1420del p.Ile474Serfs*84 exon 5 Pathogenic, identified in ALD patient (60). Deleterious mutation. No detectable ALDP in patient cells(60).
153002639 c.1421T>C p.Ile474Thr exon 5 Pathogenic, identified in 4 ALD patients (33, 88, 125).
153002638 c.1422_26del p.Ile474Metfs*80 exon 5 Pathogenic, identified in ALD patient (66). Deleterious mutation.
153002645 c.1428C>A p.Cys476* exon 5 Pathogenic, identified in ALD patient (125). Deleterious mutation.
153002645 c.1428C>G p.Cys476Trp exon 5 VUS (X:153002645 C/G).
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).
153002646 c.1429G>T p.Glu477* exon 5 Pathogenic, identified in 4 ALD patients (8, 15, 33). Deleterious mutation.
153002647 c.1430del p.Glu477Glyfs*81 exon 5 Pathogenic, identified in 3 ALD patients (91, 100). Deleterious mutation.
153002653 c.1436del p.Ile479Thrfs*79 exon 5 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153002658 c.1441A>T p.Ile481Phe exon 5 Pathogenic, identified in ALD patient (100).
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).
153002662 c.1445T>A p.Val482Asp exon 5 Pathogenic, identified in ALD patient (142).
153002668 c.1451C>G p.Pro484Arg exon 5 Pathogenic, identified in 5 ALD patients (3).
153002669 c.1452C>G p.Pro484Pro exon 5 Synonymous (X:153002669 C/G).
153002671 c.1454C>A p.Ser485* exon 5 Pathogenic, identified in ALD patient (33). 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 ALD patient (33). Deleterious mutation.
153002679 c.1462_63insTGG p.Val488_Val489insVal exon 5 Pathogenic, identified in ALD patient (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 ALD patient (33).
153002687 c.1470_71insGTG p.Val490_Ala491insVal exon 5 Pathogenic, identified in ALD patient (7). No detectable ALDP in patient cells (7).
153002694 c.1477_1488+11del p.Leu493_Arg496del exon 5 Pathogenic, identified in ALD patient (108).
153002695 c.1478T>C p.Leu493Pro exon 5 Pathogenic, identified in 2 ALD patients (33, 88).
153002698 c.1481del p.Asn494Thrfs*64 exon 5 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153002704 c.1487G>C p.Arg496Thr exon 5 VUS (X:153002704 G/C).
153002706 c.1488+1G>A p.Val497fs*? IVS 5 Pathogenic, identified in ALD patient (40). Deleterious mutation.
153005536 c.1489-10delC IVS 5 Benign, based on its frequency of 599/6600 control alleles (X:153005536 GC/G). East-Asian specific polymorphism confirmed by pedigree analysis (68).
153005537 c.1489-9C>T IVS 5 VUS (X:153005537 C/T).
153005540 c.1489-6delC IVS 5 Benign, based on its frequency of 599/6600 control alleles (X:153005536 GC/G). East-Asian specific polymorphism confirmed by pedigree analysis (68).
153005545 c.1489-1_1489delinsTT p.Val497fs*? IVS 5 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153005554 c.1497_1505del p.Glu499_His502delinsAsp exon 6 Pathogenic, identified in ALD patient (105).
153005556 c.1499G>T p.Gly500Val exon 6 Pathogenic, identified in ALD patient (33).
153005558 c.1501A>C p.Met501Leu exon 6 Pathogenic, identified in ALD patient (60). Normal ALDP level in patient cells (60), but non-functional
153005562 c.1505_06insC p.Leu503Serfs*53 exon 6 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153005565 c.1505_10del p.Leu503_Leu504del exon 6 Pathogenic, identified in ALD patient (58).
153005562 c.1508T>C p.Leu503Pro exon 6 Pathogenic, identified in 2 ALD patients (63, 146).
153005565 c.1508_09insC p.Leu504Alafs*52 exon 6 Pathogenic, identified in ALD patient (27). Deleterious mutation.
153005572 c.1514T>C p.Ile505Thr exon 6 Pathogenic, identified in ALD patient (33).
153005571 c.1515C>G p.Ile505Met exon 6 Pathogenic, identified in ALD patient (32, 58). Affects ALDP stability in patient cells (32, 58).
153005572 c.1515_19delinsGCA p.Ile505Metfs*50 exon 6 Pathogenic, identified in ALD patient (60). Deleterious mutation.
153005576 c.1519G>A p.Gly507Ser exon 6 Pathogenic, identified in 3 ALD patients (32).
153005577 c.1520G>A p.Gly507Asp exon 6 Pathogenic, identified in 2 ALD patients (68, 88).
153005577 c.1520G>T p.Gly507Val exon 6 Pathogenic, identified in ALD patient (24).
153005578 c.1521C>T p.Gly507Gly exon 6 Synonymous (X:153005578 C/T).
153005580 c.1523C>T p.Pro508Leu exon 6 Pathogenic, identified in ALD patient (93).
153005583 c.1526A>G p.Asn509Ser exon 6 VUS (X:153005583 A/G).
153005583 c.1526A>T p.Asn509Ile exon 6 Pathogenic, identified in 4 ALD patients (33, 64, 132, 137).
153005585 c.1528G>A p.Gly510Ser exon 6 Pathogenic, identified in 2 ALD patients (33, 100).
153005586 c.1529G>A p.Gly510Asp exon 6 Pathogenic, identified in 5ALD patients (33, 59, 64, 132, 137).
153005588 c.1531T>C p.Cys511Arg exon 6 Pathogenic, identified in ALD patient (33).
153005589 c.1532G>A p.Cys511Tyr exon 6 Pathogenic, identified in 2 ALD patients (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 patients (33, 49). Deleterious mutation.
153005590 c.1533C>G p.Cys511Trp exon 6 Pathogenic, identified in ALD patient (137).
153005591 c.1534G>T p.Gly512Cys exon 6 Pathogenic, identified in ALD patient (47).
153005591 c.1534G>A p.Gly512Ser exon 6 Pathogenic, identified in 29 ALD patients (7, 13, 23, 27, 33, 53, 57, 58, 76, 88, 93, 100, 108, 121, 124, 153, 154, 158, 178, 181). No detectable ALDP in patient cells (7, 23, 53, 58).
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 patients (33, 69).
153005595 c.1538A>G p.Lys513Arg exon 6 Pathogenic, identified in 2 ALD patients (58, 125). No detectable ALDP in patient cells (58).
153005597 c.1540A>C p.Ser514Arg exon 6 Pathogenic, identified in 5 ALD patienst (63, 145).
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 patients (88).
153005598 c.1541G>A p.Ser514Asn exon 6 Pathogenic, identified in 2 ALD patients (58, 145). Affects ALDP stability in patient cells (58).
153005601 c.1544C>A p.Ser515Tyr exon 6 Pathogenic, identified in ALD patient (125).
153005601 c.1544C>T p.Ser515Phe exon 6 Pathogenic, identified in 11 ALD patients (8, 51, 112, 179).
153005604 c.1547T>C p.Leu516Pro exon 6 Pathogenic, identified in 5 ALD patients (33, 58, 71, 150). No detectable ALDP in patient cells (58).
153005605 c.1548G>A p.Leu516Leu exon 6 Synonymous (X:153005605 G/A).
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 patients (6, 33). Deleterious mutation.
153005609 c.1552C>G p.Arg518Gly exon 6 Pathogenic, identified in 4 ALD patients (59, 64, 132, 137).
153005609 c.1552C>T p.Arg518Trp exon 6 Pathogenic, identified in 19 ALD patients (6, 7, 32, 33, 53, 58, 88, 90, 125, 133, 137). No detectable ALDP in patient cells (7, 58).
153005610 c.1553G>A p.Arg518Gln exon 6 Pathogenic, identified in 43 ALD patients (9, 24, 32, 33, 48, 49, 53, 58, 59, 60, 64, 88, 90, 96, 100, 105, 108, 120, 132, 137, 154, 181). No detectable ALDP in patient cells (9, 32, 49, 53, 58, 60).
153005616 c.1559T>A p.Leu520Gln exon 6 Pathogenic, identified in 5 ALD patients (54, 59, 64, 132, 137).
153005621 c.1564G>A p.Gly522Arg exon 6 Pathogenic, identified in 2 ALD patients (7, 58). No detectable ALDP in patient cells (7, 58).
153005624 c.1567C>T p.Leu523Phe exon 6 Pathogenic, identified in ALD patient (96).
153005625 c.1568T>C p.Leu523Pro exon 6 Pathogenic, identified in ALD patient (33).
153005627 c.1570T>C p.Trp524Arg exon 6 Pathogenic, identified in ALD patient (33).
153005628 c.1571G>A p.Trp524* exon 6 Pathogenic, identified in ALD patient (60). Deleterious mutation. No detectable ALDP in patient cells (60).
153005630 c.1573C>G p.Pro525Ala exon 6 Pathogenic, identified in ALD patient (33).
153005630 c.1573C>T p.Pro525Ser exon 6 Pathogenic, identified in ALD patient (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 ALD patient (105). Deleterious mutation.
153005639 c.1582G>A p.Gly528Ser exon 6 Benign, (X:153005639 G/A), confirmed by biochemical testing (144).
153005642 c.1585G>A p.Gly529Ser exon 6 Pathogenic, identified in ALD patient (38).
153005642 c.1585-87del p.Gly529del exon 6 Pathogenic, identified in 2 ALD patients (4, 105).
153005642 c.1585delG p.Gly529Valfs*29 exon 6 Pathogenic, identified in 2 ALD patients (21, 62). Deleterious mutation.
153005643 c.1586_90del p.Gly529Valfs*25 exon 6 Pathogenic, identified in ALD patient (49). Deleterious mutation. No detectable ALDP in patient cells (49).
153005643 c.1586G>A p.Gly529Asp exon 6 Pathogenic, identified in 2 ALD patients (33).
153005649 c.1592_93insT p.Tyr532Leufs*24 exon 6 Pathogenic, identified in ALD patient (38). Deleterious mutation.
153005654 c.1597A>C p.Lys533Gln exon 6 VUS (X:153005654 A/C).
153005654 c.1597A>G p.Lys533Glu exon 6 Pathogenic, identified in ALD patient (60). No detectable ALDP in patient cells (60).
153005656 c.1598_99insA p.Pro534Alafs*22 exon 6 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153005656 c.1599G>T p.Lys533Asn exon 6 Pathogenic, identified in ALD patient (84).
153005657 c.1599delG p.Lys533Asnfs*25 exon 6 Pathogenic, identified in ALD patient (49). Deleterious mutation. No detectable ALDP in patient cells (49).
153005658 c.1600C>T p.Pro534Ser exon 6 Pathogenic, identified in ALD patient (33).
153005658 c.1601C>G p.Pro534Arg exon 6 Pathogenic, identified in 5 ALD patients (67, 86, 93, 132, 137).
153005655 c.1601C>T p.Pro534Leu exon 6 Pathogenic, identified in ALD patient (23). No detectable ALDP in patient cells (23).
153005660 c.1603_04del p.Pro535Thrfs*20 exon 6 Pathogenic, identified in 3 ALD patients (59, 64, 132). Deleterious mutation.
153005660 c.1603_1991del p.Pro535Glufs*69 exon 6 Pathogenic, identified in 7 ALD patients (16, 32). Deleterious mutation. No detectable ALDP in patient cells (32).
153005664 c.1607C>A p.Pro536His exon 6 Pathogenic, identified in ALD patient (84).
153005666 c.1609C>T p.Gln537* exon 6 Pathogenic, identified in ALD patient (96). Deleterious mutation.
153005668 c.1611G>C p.Gln537His exon 6 VUS (X:153005668 G/C).
153005669 c.1612C>T p.Arg538Cys exon 6 VUS (X:153005669 C/T).
153005670 c.1613G>A p.Arg538His exon 6 VUS (X:153005670 G/A).
153005672 c.1615A>C p.Met539Leu exon 6 VUS (X:153005672 A/C).
153005676 c.1619T>C p.Phe540Ser exon 6 Pathogenic, identified in ALD patient (24).
153005676 c.1619T>G p.Phe540Cys exon 6 Pathogenic, identified in ALD patient (96).
153005677 c.1620C>T p.Phe540Phe exon 6 Synonymous (X:153005677 C/T).
153005681 c.1624_26del p.Ile542del exon 6 Pathogenic, identified in ALD patient (68).
153005685 c.1628C>T p.Pro543Leu exon 6 Pathogenic, identified in 33 ALD patients (27, 29, 32, 33, 40, 49, 60, 65, 114, 139, 141, 145, 158, 178). No detectable ALDP in patient cells (32, 49, 60, 139, 141).
153005685 c.1628delC p.Pro543Argfs*15 exon 6 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153005685 c.1628_34dup p.Arg545serfs*13 exon 6 Pathogenic, identified in 2 ALD patients (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 ALD patient (58). Affects ALDP stability in patient cells (58).
153005688 c.1631A>G p.Gln544Arg exon 6 Pathogenic, identified in 6 ALD patients (9, 24, 33, 88, 90). Normal ALDP level in patient cells (9), but non-functional
153005690 c.1633A>T p.Arg545Trp exon 6 Pathogenic, identified in ALD patient (53).
153005692 c.1634+1g>a p.Pro546fs*? IVS 6 Pathogenic, identified in 4 ALD patients (6, 49, 60, 132). Deleterious mutation.
153005692 c.1634+1g>c p.Pro546fs*? IVS 6 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153005695 c.1634+4A>G IVS 6 VUS (X:153005695 A/G).
153005696 c.1634+5G>C IVS 6 VUS (X:153005696 G/C).
153006013 c.1635-16_1645delins CACAGACATGTAGGGC p.Pro546fs*? IVS 6 Pathogenic, identified in ALD patient (181). Deleterious mutation.
153006022 c.1635-6C>T IVS 6 VUS (X:153006022 C/T).
153006026 c.1635-2a>g p.Pro546fs*? IVS 6 Pathogenic, identified in 5 ALD patients (11, 33). Deleterious mutation. No detectable ALDP in patient cells (33) due to splicing defect (11).
153006033 c.1640A>G p.Tyr547Cys exon 7 Pathogenic, identified in 2 ALD patients (104, 124). No detectable ALDP in patient cells (104).
153006046 c.1653C>T p.Gly551Gly exon 7 Synonymous (X:153006046 C/T).
153006046 c.1653insG p.Ser552fs*3 exon 7 Pathogenic, identified in ALD patient (100). Deleterious mutation.
153006047 c.1654T>C p.Ser552Pro exon 7 Pathogenic, identified in 2 ALD patients (28, 33).
153006050 c.1657C>G p.Leu553Val exon 7 Pathogenic, identified in ALD patient (33).
153006053 c.1660C>T p.Arg554Cys exon 7 VUS (X:153006053 C/T).
153006054 c.1661G>A p.Arg554His exon 7 Pathogenic, identified in 44 ALD patients (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). No detectable (1% of controls (97)) ALDP in patient cells (32, 49, 58, 60, 97, 102).
153006056 c.1663G>A p.Asp555Asn exon 7 Pathogenic, identified in ALD patient (52).
153006059 c.1666C>T p.Gln556* exon 7 Pathogenic, identified in ALD patient (58). Deleterious mutation. No detectable ALDP in patient cells (58).
153006060 c.1667A>G p.Gln556Arg exon 7 Pathogenic, identified in 5 ALD patients (40, 59, 64, 132, 137).
153006063 c.1670_71del p.Val557Aspfs*43 exon 7 Pathogenic, identified in ALD patient (49). Deleterious mutation.
153006066 c.1673T>C p.Ile558Thr exon 7 Pathogenic, identified in ALD patient (72). Normal ALDP level in patient cells (72).
153006069 c.1676A>G p.Tyr559Cys exon 7 Pathogenic, identified in 4 ALD patients (32, 33).
153006070 c.1677C>G p.Tyr559* exon 7 Pathogenic, identified in ALD patient (122). Deleterious mutation.
153006071 c.1678C>T p.Pro560Ser exon 7 Pathogenic, identified in ALD patient (49).
153006072 c.1679C>T p.Pro560Leu exon 7 Pathogenic, identified in 39 ALD patients (4, 7, 24, 32, 33, 49, 71, 86, 88, 90, 93, 96, 100, 108, 111, 136, 145, 150, 158, 165). Affects ALDP stability in patient cells (7, 32, 33, 49).
153006072 c.1679C>G p.Pro560Arg exon 7 Pathogenic, identified in ALD patient (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 patients (60). No detectable ALDP in patient cells (60).
153006090 c.1697T>A p.Met566Lys exon 7 Pathogenic, identified in 2 ALD patients (13). No detectable ALDP in patient cells (33).
153006090 c.1697T>C p.Met566Thr exon 7 Pathogenic, identified in ALD patient (58). No detectable ALDP in patient cells (58).
153006092 c.1699C>T p.Gln567* exon 7 Pathogenic, identified in 2 ALD patients (33, 60). Deleterious mutation.
153006107 c.1714_25del p.Ser572_Asp575del exon 7 Pathogenic, identified in 2 ALD patients (81, 104).
153006108 c.1715C>T p.Ser572Leu exon 7 VUS (X:153006108 C/T).
153006108 c.1715C>A p.Ser572* exon 7 Pathogenic, identified in ALD patient (60). Deleterious mutation. No detectable ALDP in patient cells (60).
153006110 c.1717delG p.Glu573Serfs*63 exon 7 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153006113 c.1720C>T p.Gln574* exon 7 Pathogenic, identified in ALD patient (53, 58). Deleterious mutation. No detectable ALDP in patient cells (53, 58).
153006119 c.1726dup p.Leu576Profs*25 exon 7 Pathogenic, identified in ALD patient (120). Deleterious mutation.
153006120 c.1727T>C p.Leu576Pro exon 7 Pathogenic, identified in 4 ALD patients (93, 98, 132, 137).
153006122 c.1729G>T p.Glu577* exon 7 Pathogenic, identified in ALD patient (100). Deleterious mutation.
153006124 c.1731del p.Ala578Profs*58 exon 7 Pathogenic, identified in ALD patient (105). Deleterious mutation.
153006125 c.1732G>A p.Ala578Thr exon 7 VUS (X:153006125 G/A).
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>A p.Val582Ile exon 7 Benign, based on its frequency of 2122/81726 control alleles (X:153006137 G/A).
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 patients (27, 158). Deleterious mutation.
153006140 c.1747_1759del p.Val583Thrfs*49 exon 7 Pathogenic, identified in ALD patient (145). Deleterious mutation.
153006141 c.1748T>A p.Val583Glu exon 7 Benign, based on its frequency of 2132/81068 control alleles (X:153006141 T/A).
153006141 c.1748T>C p.Val583Ala exon 7 Benign, based on its frequency of 7/81068 control alleles (X:153006141 T/C).
153006141 c.1748T>G p.Val583Gly exon 7 Pathogenic, identified in ALD patient (33).
153006147 c.1754T>C p.Leu585Pro exon 7 Pathogenic, identified in ALD patient (68).
153006148 c.1755del p.His586Thrfs*50 exon 7 Pathogenic, identified in ALD patient (62). Deleterious mutation.
153006152 c.1759_61dup p.His587dup exon 7 Pathogenic, identified in ALD patient (125).
153006152 c.1759_70del12 p.His587_Gln590del exon 7 Pathogenic, identified in ALD patient (24).
153006158 c.1765del p.Leu589Cysfs*47 exon 7 Pathogenic, identified in ALD patient (49). Deleterious mutation.
153006161 c.1768C>T p.Gln590* exon 7 Pathogenic, identified in 8 ALD patients (20, 88, 176). Deleterious mutation.
153006162 c.1769A>T p.Gln590Leu exon 7 VUS (X:153006162 A/T).
153006164 c.1771del p.Arg591Glyfs*45 exon 7 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153006164 c.1771C>T p.Arg591Trp exon 7 Pathogenic, identified in 8 ALD patients (24, 32, 33, 53, 72, 161). Normal ALDP level in patient cells (53), but non-functional.
153006165 c.1772G>T p.Arg591Leu exon 7 Pathogenic, identified in 3 ALD patients (88, 145).
153006165 c.1772G>C p.Arg591Pro exon 7 Pathogenic, identified in 3 ALD patients (44, 49, 105). No detectable ALDP expression in patient cells (49).
153006165 c.1772G>A p.Arg591Gln exon 7 Pathogenic, identified in 15 ALD patients (22, 32, 33, 78, 98, 108, 145, 175). Normal ALDP level in patient cells (22, 33), but non-functional (33).
153006173 c.1780G>C p.Gly594Arg exon 7 Pathogenic, identified in ALD patient (83).
153006174 c.1780+1g>a p.Trp595fs*? IVS 7 Pathogenic, identified in 2 ALD patients (7, 53). Deleterious mutation.
153006175 c.1780+2t>g p.Trp595fs*? IVS 7 Pathogenic, identified in 7 ALD patients (38, 58, 71, 118, 150, 158). 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 26/86033 control alleles (X:153006177 G/A).
153008436 c.1781-5C>G IVS 7 VUS (X:153008436 C/G).
153008439 c.1781-2a>g p.Trp595fs*? IVS 7 Pathogenic, identified in 3 ALD patients (32, 33). Deleterious mutation. No detectable ALDP in patient cells (32).
153008440 c.1781-1g>a p.Trp595fs*? IVS 7 Pathogenic, identified in ALD patient (96). Deleterious mutation.
153008440 c.1781-1g>t p.Trp595fs*? IVS 7 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153008443 c.1783T>C p.Trp595Arg exon 8 Pathogenic, identified in ALD patient (88).
153008444 c.1784G>A p.Trp595* exon 8 Pathogenic, identified in 2 ALD patients (33, 90). Deleterious mutation.
153008445 c.1785G>A p.Trp595* exon 8 Pathogenic, identified in 4 ALD patients (24, 59, 64, 132). Deleterious mutation.
153008450 c.1790C>G p.Ala597Gly exon 8 Reported in ExAC (X:153008450 C/G) as a VUS. Pathogenic, identified in ALD patient (58). No detectable ALDP in patient cells (58).
153008451 c.1791_92del p.Met598Valfs*2 exon 8 Pathogenic, identified in ALD patient (6). Deleterious mutation. No detectable ALDP in patient cells (58).
153008452 c.1792A>G p.Met598Val exon 8 VUS (X:153008452 A/G).
153008454 c.1794G>T p.Met598Ile exon 8 VUS (X:153008454 G/T).
153008462 c.1802G>A p.Trp601* exon 8 Pathogenic, identified in 9 ALD patients (27, 33, 53, 79, 100, 154). Deleterious mutation. No detectable ALDP in patient cells (53).
153008463 c.1803G>A p.Trp601* exon 8 Pathogenic, identified in 3 ALD patients (33, 77, 88). Deleterious mutation.
153008464 c.1804A>T p.Lys602* exon 8 Pathogenic, identified in ALD patient (93). Deleterious mutation.
153008470 c.1810G>A p.Val604Ile exon 8 Benign, based on its frequency of 42/38499 control alleles (X:153008470 G/A).
153008474 c.1814T>A p.Leu605Gln exon 8 Pathogenic, identified in 4 ALD patients (59, 64, 132, 137).
153008474 c.1814T>C p.Leu605Pro exon 8 Pathogenic, identified in ALD patient (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 patients (7, 33, 71, 72, 96, 100, 150). No detectable ALDP in patient cells (72).
153008476 c.1816T>G p.Ser606Ala exon 8 Pathogenic, identified in ALD patient (32).
153008477 c.1817C>T p.Ser606Leu exon 8 Pathogenic, identified in 27 ALD patients (6, 13, 22, 24, 33, 46, 49, 52, 57, 58, 59, 60, 64, 97, 100, 132, 137, 178, 180). Reduced (25% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, detectable ALP by immunofluorescence (22, 33, 49, 60).
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 ALD patient (6). Deleterious mutation. No detectable ALDP in patient cells (6).
153008480 c.1820_23del p.Gly607Alafs*28 exon 8 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153008480 c.1820G>A p.Gly607Asp exon 8 Pathogenic, identified in ALD patient (52, 58). Normal ALDP level in patient cells (58), but non-functional.
153008482 c.1822G>A p.Gly608Ser exon 8 Pathogenic, identified in 3 ALD patients (58, 62, 105).
153008483 c.1823G>A p.Gly608Asp exon 8 Reported in ALD male (48), but considering its frequency of 306/36626 control alleles (X:153008483 G/A) this is not a pathogenic variant.
153008485 c.1825G>A p.Glu609Lys exon 8 Pathogenic, identified in 25 ALD patients (15, 16, 32, 33, 49, 60, 62, 72, 88, 90, 97, 141, 146). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALP by immunofluorescence (32, 49, 60, 72, 141, 146).
153008486 c.1826A>G p.Glu609Gly exon 8 Pathogenic, identified in 3 ALD patients (16, 97, 141). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALP by immunofluorescence (32, 49, 60, 72, 141, 146).
153008493 c.1833G>C p.Gln611His exon 8 Pathogenic, identified in ALD patient (33).
153008498 c.1838T>A p.Ile613Asn exon 8 Pathogenic, identified in ALD patient (33).
153008499 c.1839C>T p.Ile613Ile exon 8 Synonymous (X:153008499 C/T).
153008500 c.1840G>A p.Gly614Ser exon 8 VUS (X:153008500 G/A).
153008500 c.1840G>C p.Gly614Arg exon 8 Pathogenic, identified in ALD patient (88).
153008506 c.1846G>A p.Ala616Thr exon 8 Pathogenic, identified in 7 ALD patients (32, 97, 141). Reduced (4% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALP by immunofluorescence (32, 141).
153008507 c.1847C>A p.Ala616Asp exon 8 Pathogenic, identified in ALD patient (90).
153008507 c.1847C>T p.Ala616Val exon 8 Pathogenic, identified in ALD patient (29).
153008509 c.1849C>A p.Arg617Ser exon 8 Pathogenic, identified in ALD patient (92).
153008509 c.1849C>G p.Arg617Gly exon 8 Pathogenic, identified in 10 ALD patients (15, 33, 59, 64, 67, 86, 93, 132, 137).
153008509 c.1849C>T p.Arg617Cys exon 8 Pathogenic, identified in 30 ALD patients (6, 15, 16, 32, 33, 49, 58, 59, 60, 64, 86, 88, 93, 132, 137145, 178). No detectable ALDP in patient cells (32, 49, 58).
153008509 c.1849del p.Arg617Alafs*19 exon 8 Pathogenic, identified in ALD patient (60). Deleterious mutation. No detectable ALDP in patient cells (60).
153008510 c.1850G>A p.Arg617His exon 8 Pathogenic, identified in 42 ALD patients (6, 13, 17, 22, 32, 33, 49, 57, 58, 60, 62, 74, 87, 88, 96, 100, 125, 145, 147, 154, 178). No detectable ALDP in patient cells (22, 33, 49, 58, 60, 147).
153008518 c.1858T>C p.Tyr620His exon 8 Pathogenic, identified in 2 ALD patients (88, 99).
153008519 c.1859del p.Tyr620Serfs*16 exon 8 Pathogenic, identified in 2 ALD patients (80). Deleterious mutation.
153008519 c.1859A>G p.Tyr620Cys exon 8 Pathogenic, identified in ALD patient (58). No detectable ALDP in patient cells (58).
153008520 c.1860C>G p.Tyr620* exon 8 Pathogenic, identified in ALD patient (58). Deleterious mutation.
153008522 c.1862dup p.His621Glnfs*10 exon 8 Pathogenic, identified in ALD patient (58). Deleterious mutation.
153008526 c.1865+1g>a p.Pro623fs*? IVS 8 Pathogenic, identified in 2 ALD patients (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 patients (32).
153008665 c.1866-10g>a p.Pro623fs*? IVS 8 Pathogenic, identified in 21 ALD patients (11, 30, 32, 33, 58, 72, 100, 125, 145, 156, 178). 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 4 ALD patients (32). No detectable ALDP in patient cells (32) due to splicing defect.
153008677 c.1868C>T p.Pro623Leu exon 9 Pathogenic, identified in ALD patient (100).
153008679 c.1870A>G p.Lys624Glu exon 9 VUS (X:153008679 A/G).
153008685 c.1876G>A p.Ala626Thr exon 9 Pathogenic, identified in 12 ALD patients (22, 33, 49, 145). No detectable ALDP in patient cells (22, 33, 49).
c.[1876G>A; 2087A>T] p.[Ala626Thr; Lys696Met] exon 9 + exon 10 Pathogenic, identified in ALD patient (32). p.Ala626Thr is pathogenic; p.Lys696Met is a VUS (X:153009038 A/T).
153008686 c.1877C>A p.Ala626Asp exon 9 Pathogenic, identified in ALD patient (49).
153008689 c.1880T>A p.Leu627His exon 9 Pathogenic, identified in ALD patient (32).
153008689 c.1880dup p.Leu628Profs*3 exon 9 Pathogenic, identified in ALD patient (58). Deleterious mutation.
153008690 c.1881C>T p.Leu627Leu exon 9 Synonymous (X:153008690 C/T).
153008692 c.1883T>A p.Leu628Gln exon 9 Pathogenic, identified in ALD patient (100).
153008692 c.1883T>C p.Leu628Pro exon 9 Pathogenic, identified in 3 ALD patients (33, 60). No detectable ALDP in patient cells (60).
153008694 c.1885G>A p.Asp629Asn exon 9 Pathogenic, identified in 2 ALD patients (145, 165).
153008694 c.1885G>C p.Asp629His exon 9 Pathogenic, identified in ALD patient (22). Normal ALDP level in patient cells (22), but non-functional.
153008697 c.1888G>A p.Glu630Lys exon 9 Pathogenic, identified in 2 ALD patients (33, 145).
153008698 c.1889A>G p.Glu630Gly exon 9 Pathogenic, identified in ALD patient (49).
153008700 c.1891T>C p.Cys631Arg exon 9 Pathogenic, identified in 4 ALD patients (32, 33, 60). No detectable ALDP in patient cells (60).
153008701 c.1892G>A p.Cys631Tyr exon 9 Pathogenic, identified in 5 ALD patients (33, 49, 76, 93).
153008702 c.1893C>G p.Cys631Trp exon 9 Pathogenic, identified in ALD patient (33).
153008703 c.1894A>C p.Thr632Pro exon 9 Pathogenic, identified in 5 ALD patients (33, 96, 100, 120).
153008704 c.1895C>T p.Thr632Ile exon 9 Pathogenic, identified in 11 ALD patients (33, 49, 147), confirmed by extensive pedigree analysis (147).
153008707 c.1898G>T p.Ser633Ile exon 9 Pathogenic, identified in ALD patient (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 4 ALD patients (32, 141). Deleterious mutation. No detectable ALDP in patient cells (141).
153008708 c.1899C>A p.Ser633Arg exon 9 Pathogenic, identified in 2 ALD patients (29, 96).
153008709 c.1900G>T p.Ala634Ser exon 9 VUS (X:153008709 G/T).
153008709 c.1900G>A p.Ala634Thr exon 9 Pathogenic, identified in ALD patient (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 3 ALD patients (32, 49, 58). Affects ALDP stability in patient cells (32, 58).
153008712 c.1903_04insCCA p.Val635delinsAlaMet exon 9 Pathogenic, identified in 2 ALD patients (72, 145). Affects ALDP stability in patient cells (72).
153008716 c.1907_25del p.Ser636Argfs*49 exon 9 Pathogenic, identified in 3 ALD patients (32). Deleterious mutation.
153008716 c.1907G>T p.Ser636Ile exon 9 Pathogenic, identified in 2 ALD patients (27, 42). 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 patients (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 4 ALD patients (33, 96).
153008735 c.1926-27insCAAG p.Ile643Glnfs*92 exon 9 Pathogenic, identified in ALD patient (32). Deleterious mutation.
153008742 c.1933C>T p.Gln645* exon 9 Pathogenic, identified in 3 ALD patients (22, 33). Deleterious mutation. No detectable ALDP in patient cells (22, 33).
153008745 c.1936G>C p.Ala646Pro exon 9 Pathogenic, identified in 2 ALD patients (29, 33).
153008748 c.1939_40insGG p.Ala647Glyfs*45 exon 9 Pathogenic, identified in 4 ALD patients (71, 72). Deleterious mutation. No detectable ALDP in patient cells (72).
153008751 c.1942A>T p.Lys648* exon 9 Pathogenic, identified in ALD patient (84). Deleterious mutation.
153008757 c.1948_49del p.Ala650Glyfs*83 exon 9 Pathogenic, identified in ALD patient (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 Pathogenic, identified in ALD patient (33).
153008770 c.1961T>C p.Leu654Pro exon 9 Pathogenic, identified in 19 ALD patients (32, 49, 62, 97, 139, 141). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALP by immunofluorescence (32, 49, 139, 141).
153008773 c.1964T>C p.Leu655Pro exon 9 Pathogenic, identified in ALD patient (53). Affects ALDP stability in patient cells (53).
153008779 c.1970_72del p.Ile657del exon 9 Pathogenic, identified in 11 ALD patients (16, 32, 33, 111, 141). No detectable ALDP in patient cells (32, 141).
153008782 c.1973C>T p.Thr658Ile exon 9 Pathogenic, identified in 2 ALD patients (33, 58). No detectable ALDP in patient cells (58).
153008787 c.1978C>T p.Arg660Trp exon 9 Pathogenic, identified in 39 ALD patients (7, 13, 16, 22, 23, 24, 32, 33, 49, 53, 57, 58, 60, 88, 90, 97, 135, 141, 145, 146). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALP by immunofluorescence (7, 22, 23, 32, 33, 49, 53, 58, 141, 146).
153008788 c.1979G>A p.Arg660Gln exon 9 Pathogenic, identified in 5 ALD patients (71, 72, 150). No detectable ALDP in patient cells (72).
153008788 c.1979G>C p.Arg660Pro exon 9 Pathogenic, identified in ALD patient (48).
153008791 c.1982-83del p.Pro661Leufs*72 exon 9 Pathogenic, identified in 2 ALD patients (32). Deleterious mutation.
153008797 c.1988T>A p.Leu663Gln exon 9 Pathogenic, identified in 2 ALD patients (32, 58). Affects ALDP stability in patient cells (32, 58).
153008797 c.1988_89insT p.Trp664Valfs*70 exon 9 Pathogenic, identified in 2 ALD patients (33, 49). Deleterious mutation. No detectable ALDP in patient cells (33).
153008801 c.1991+1G>A p.Lys665fs*? IVS 9 Pathogenic, identified in ALD patient (49). Deleterious mutation.
153008802 c.1991+2T>C p.Lys665fs*? IVS 9 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153008805 c.1991+5G>T IVS 9 VUS (X:153008805 G/T).
153008807 c.1991+7G>A IVS 9 VUS (X:153008807 G/A).
153008941 c.1992-2A>G p.Lys665fs*? IVS 9 Pathogenic, identified in 2 ALD patients (32). Deleterious mutation.
153008942 c.1992-1G>A p.Lys665fs*? IVS 9 Pathogenic, identified in ALD patient (49). Deleterious mutation.
153008943 c.1992G>A p.Trp664* exon 10 Pathogenic, identified in ALD patient (98). Deleterious mutation.
153008944 c.1993_95delinsGAG p.Lys665delinsGlu exon 10 Pathogenic, identified in ALD patient (72). Affects ALDP stability in patient cells (72).
153008948 c.[1997A>C;2007C>G] p.[Tyr666Ser;His669Gln] exon 10 Pathogenic, identified in ALD patient (62). Unclear which of the two variants is pathogenic.
153008949 c.1998C>G p.Tyr666* exon 10 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153008950 c.1999C>G p.His667Asp exon 10 Pathogenic, identified in 4 ALD patients (49, 62, 90, 97). Reduced (3% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALP by immunofluorescence (49).
153008950 c.1999_2000delCA p.His669Leufs*64 exon 10 Pathogenic, identified in ALD patient (29). Deleterious mutation.
153008951 c.2000A>G p.His667Arg exon 10 Pathogenic, identified in ALD patient (33).
153008951 c.2000A>T p.His667Leu exon 10 Pathogenic, identified in ALD patient (53). Affects ALDP stability in patient cells (53).
153008953 c.2002A>C p.Thr668Pro exon 10 Pathogenic, identified in ALD patient (33).
153008954 c.2003C>T p.Thr668Ile exon 10 Pathogenic, identified in 2 ALD patients (33, 49). No detectable ALDP in patient cells (49).
153008957 c.2006_07del p.His669Leufs*64 exon 10 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153008957 c.2006A>G p.His669Arg exon 10 Pathogenic, identified in 7 ALD patients (33, 58, 104, 135, 145). No detectable ALDP in patient cells (58).
153008958 c.[2007C>G;1997A>C] p.[His669Gln;Tyr666Ser] exon 10 Pathogenic, identified in ALD patient (62). Unclear which of the two variants is pathogenic.
153008961 c.2010_11insT p.Leu671Serfs*63 exon 10 Pathogenic, identified in ALD patient (33). Deleterious mutation.
153008961 c.2010_2014delinsTAT p.Leu670Phefs*63 exon 10 Pathogenic, identified in 3 ALD patients (87). Deleterious mutation.
153008961 c.2010dupG p.Leu671Alafs*63 exon 10 Pathogenic, identified in ALD patient (181). Deleterious mutation.
153008965 c.2014C>T p.Gln672* exon 10 Pathogenic, identified in 6 ALD patients (25, 27, 28, 33, 87, 88). 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).
153008977 c.2026G>T p.Glu676* exon 10 Pathogenic, identified in 2 ALD patients (33). Deleterious mutation.
153008981 c.2030G>A p.Gly677Asp exon 10 Pathogenic, identified in ALD patient (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).
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 patients (14, 88).
153008987 c.2036G>A p.Trp679* exon 10 Pathogenic, identified in ALD patient (84). Deleterious mutation.
153008988 c.2037G>A p.Trp679* exon 10 Pathogenic, identified in 6 ALD patients (32, 33, 100, 154). 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 10/49270 control alleles (X:153008994 C/G).
153008995 c.2044G>C p.Glu682Gln exon 10 VUS (X:153008995 G/C).
153009002 c.2051T>C p.Leu684Pro exon 10 Pathogenic, identified in ALD patient (33).
153009012 c.2061_2200del p.Leu690Profs*65 exon 10 Pathogenic, identified in ALD patient (32). Deleterious mutation.
153009016 c.2065C>T p.Arg689Cys exon 10 VUS (X:153009016 C/T).
153009029 c.2078C>T p.Thr693Met exon 10 Pathogenic, identified in ALD patient (49). Normal ALDP level in patient cells (49), but non-functional.
153009024 c.2073C>G p.Ser691Arg exon 10 VUS (X:153009024 C/G).
153009038 c.2087A>T p.Lys696Met exon 10 VUS (X:153009038 A/T).
153009041 c.2090A>G p.Gln697Arg exon 10 VUS (X:153009041 A/G).
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).
153009078 c.2127G>A p.Met709Ile exon 10 VUS (X:153009078 G/A).
153009082 c.2131C>T p.Arg711Trp exon 10 VUS (X:153009082 C/T).
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).
153009140 c.2189C>T p.Pro730Leu exon 10 VUS (X:153009140 C/T).
153009141 c.2190G>A p.Pro730Pro exon 10 Synonymous (X:153009141 G/A).
153009152 c.2201C>T p.Pro734Leu exon 10 VUS (X:153009152 C/T).
153009153 c.2202G>A p.Pro734Pro exon 10 Synonymous (X:153009153 G/A).
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 10535/14639 control alleles (X:153009197 G/C).

Legend: Mutations are arranged according to their nucleotide position. 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 patients 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.

References

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