single nucleotide variant | NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) | ABCD1 | Likely pathogenic | X | 152991164 | 152991164 | A | G | criteria provided, single submitter | ClinGen:CA278103,UniProtKB:P33897#VAR_000034,OMIM:300371.0006 |
single nucleotide variant | NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) | ABCD1 | Likely pathogenic | X | 153005649 | 153005649 | T | C | criteria provided, single submitter | ClinGen:CA278375 |
single nucleotide variant | NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) | ABCD1 | Likely pathogenic | X | 153005643 | 153005643 | G | A | criteria provided, single submitter | ClinGen:CA278404 |
single nucleotide variant | NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) | ABCD1 | Likely pathogenic | X | 153006053 | 153006053 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278406 |
single nucleotide variant | NM_000033.4(ABCD1):c.1201C>G (p.Arg401Gly) | ABCD1 | Likely pathogenic | X | 153001685 | 153001685 | C | G | criteria provided, single submitter | ClinGen:CA278458 |
single nucleotide variant | NM_000033.4(ABCD1):c.886T>C (p.Tyr296His) | ABCD1 | Likely pathogenic | X | 152991607 | 152991607 | T | C | criteria provided, single submitter | ClinGen:CA278494 |
single nucleotide variant | NM_000033.4(ABCD1):c.488G>A (p.Arg163His) | ABCD1 | Likely pathogenic | X | 152991209 | 152991209 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043184 |
single nucleotide variant | NM_000033.4(ABCD1):c.1082-1G>A | ABCD1 | Likely pathogenic | X | 153001565 | 153001565 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA415104345 |
single nucleotide variant | NM_000033.4(ABCD1):c.2037G>A (p.Trp679Ter) | ABCD1 | Likely pathogenic | X | 153008988 | 153008988 | G | A | criteria provided, single submitter | ClinGen:CA415118457 |
single nucleotide variant | NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) | ABCD1 | Likely pathogenic | X | 152991163 | 152991163 | A | T | criteria provided, single submitter | ClinGen:CA415098863 |