Deletion | NC_000023.10:g.(?_152954020)_(154096327_?)del | ABCD1 | Pathogenic | X | 152954020 | 154096327 | na | na | criteria provided, single submitter | - |
Deletion | NC_000023.10:g.(?_152959340)_(153009209_?)del | ABCD1 | Pathogenic | X | 152959340 | 153009209 | na | na | criteria provided, single submitter | - |
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 |
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.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 | - |
Deletion | NM_000033.4(ABCD1):c.70del (p.Leu24fs) | ABCD1 | Pathogenic | X | 152990789 | 152990789 | GC | G | criteria provided, single submitter | ClinGen:CA658659054 |
single nucleotide variant | NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) | ABCD1 | Likely pathogenic | X | 152990801 | 152990801 | A | C | criteria provided, single submitter | - |
Deletion | NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) | ABCD1 | Pathogenic | X | 152990866 | 152990879 | GCCCGCCGGGGAGCC | G | criteria provided, single submitter | - |
Duplication | NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) | ABCD1 | Pathogenic | X | 152990950 | 152990951 | T | TGGCTCCTGC | criteria provided, single submitter | - |