Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000033.4(ABCD1):c.31_46del (p.Arg11fs) | ABCD1 | Pathogenic | X | 152990752 | 152990767 | GCGGGGGAACACGCTGA | G | criteria provided, single submitter | ClinGen:CA278413 |
Deletion | NM_000033.4(ABCD1):c.36del (p.Asn13fs) | ABCD1 | Pathogenic | X | 152990753 | 152990753 | CG | C | criteria provided, single submitter | - |
Indel | NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) | ABCD1 | Pathogenic | X | 152990737 | 152990743 | AGGCCCC | CT | criteria provided, single submitter | ClinGen:CA658799880 |
Deletion | NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) | ABCD1 | Pathogenic | X | 152990704 | 152990729 | GGCAGCCAGCCCAGGTGACATGCCGGT | G | criteria provided, single submitter | ClinGen:CA278121,OMIM:300371.0026 |