Variants of ABCD1 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Gly116Arg | exon 1 | D | Pathogenic | ClinVar |
| p.Gln136* | exon 1 | D | Pathogenic | ClinVar |
| p.Ala141Thr | exon 1 | D | Pathogenic | ClinVar |
| p.Asn148Ser | exon 1 | D | Pathogenic | ClinVar |
| p.Tyr174Asp | exon 1 | D | Pathogenic | ClinVar |
| p.Ala205Glu | exon 1 | D | Likely pathogenic | ClinVar |
| p.Arg236His | exon 1 | ? | Uncertain significance | ClinVar |
| p.Val250= | exon 1 | ? | Uncertain significance | ClinVar |
| p.Gly266Arg | exon 1 | D | Pathogenic | ClinVar |
| p.Arg280Cys | exon 1 | D | Likely pathogenic | ClinVar |
| p.Glu291Lys | exon 1 | D | Pathogenic | ClinVar |
| p.Tyr296His | exon 1 | D | Likely pathogenic | ClinVar |
| p.Tyr296Cys | exon 1 | D | Pathogenic | ClinVar |
| p.Arg389Gly | exon 3 | D | Pathogenic | ClinVar |
| p.Arg401Gly | exon 3 | D | Likely pathogenic | ClinVar |
| p.Arg401Gln | exon 3 | D | Pathogenic | ClinVar |
| p.Arg418Trp | exon 4 | D | Pathogenic | ClinVar |
| p.Gln430* | exon 4 | D | Pathogenic | ClinVar |
| p.Arg464* | exon 4 | D | Pathogenic | ClinVar |
| p.Gln466* | exon 5 | D | Pathogenic | ClinVar |
| p.Glu477* | exon 5 | D | Pathogenic | ClinVar |
| p.Pro484Arg | exon 5 | D | Pathogenic | ClinVar |
| p.Thr506Pro | exon 6 | ? | Uncertain significance | ClinVar |
| p.Ser515Phe | exon 6 | D | Pathogenic | ClinVar |
| p.Leu516= | exon 6 | N | Benign | ClinVar |
| p.Arg518Trp | exon 6 | D | Pathogenic | ClinVar |
| p.Arg518Gln | exon 6 | D | Pathogenic | ClinVar |
| p.Gly529Asp | exon 6 | D | Likely pathogenic | ClinVar |
| p.Leu531Pro | exon 6 | D | Likely pathogenic | ClinVar |
| p.Arg554Ser | exon 7 | D | Likely pathogenic | ClinVar |
| p.Arg554His | exon 7 | D | Pathogenic | ClinVar |
| p.Pro560Leu | exon 7 | D | Pathogenic | ClinVar |
| p.Arg591Trp | exon 7 | D | Pathogenic | ClinVar |
| p.Met598Val | exon 8 | ? | Uncertain significance | ClinVar |
| p.Trp601* | exon 8 | D | Pathogenic | ClinVar |
| p.Ser606Leu | exon 8 | D | Pathogenic | ClinVar |
| p.Ser606= | exon 8 | ? | Uncertain significance | ClinVar |
| p.Glu609Lys | exon 8 | D | Pathogenic | ClinVar |
| p.Arg617Cys | exon 8 | D | Pathogenic | ClinVar |
| p.Arg617His | exon 8 | D | Pathogenic | ClinVar |
| p.Val635Ala | exon 9 | ? | Uncertain significance | ClinVar |
| p.Ile652Asn | exon 9 | ? | Uncertain significance | ClinVar |
| p.Pro730= | exon 10 | N | Likely benign | ClinVar |
| p.Ter746Ser | exon 10 | ? | Uncertain significance | ClinVar |