single nucleotide variant | NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg) | ABCD1 | Pathogenic | X | 152991067 | 152991067 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) | ABCD1 | Pathogenic/Likely pathogenic | X | 152991067 | 152991067 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278414,UniProtKB:P33897#VAR_000030 |
single nucleotide variant | NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) | ABCD1 | Likely pathogenic | X | 152991041 | 152991041 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000033.4(ABCD1):c.311G>A (p.Arg104His) | ABCD1 | Pathogenic/Likely pathogenic | X | 152991032 | 152991032 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA415098597 |
single nucleotide variant | NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) | ABCD1 | Pathogenic | X | 152991014 | 152991014 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA415098560 |
Duplication | NM_000033.4(ABCD1):c.253dup (p.Arg85fs) | ABCD1 | Pathogenic | X | 152990969 | 152990970 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA278445 |
Duplication | NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) | ABCD1 | Pathogenic | X | 152990950 | 152990951 | T | TGGCTCCTGC | 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 | - |
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.70del (p.Leu24fs) | ABCD1 | Pathogenic | X | 152990789 | 152990789 | GC | G | criteria provided, single submitter | ClinGen:CA658659054 |