single nucleotide variant | NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) | ABCD1 | Pathogenic | X | 153001610 | 153001610 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) | ABCD1 | Pathogenic/Likely pathogenic | X | 152991175 | 152991175 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) | ABCD1 | Likely pathogenic | X | 153008486 | 153008486 | A | G | criteria provided, single submitter | ClinGen:CA415116021 |
single nucleotide variant | NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) | ABCD1 | Pathogenic | X | 152991597 | 152991597 | G | C | criteria provided, single submitter | ClinGen:CA415100288 |
Deletion | NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) | ABCD1 | Pathogenic/Likely pathogenic | X | 153008478 | 153008481 | CGGGT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658799882 |
single nucleotide variant | NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) | ABCD1 | Pathogenic | X | 153005609 | 153005609 | C | G | criteria provided, single submitter | ClinGen:CA415111345 |
single nucleotide variant | NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) | ABCD1 | Pathogenic/Likely pathogenic | X | 153005685 | 153005685 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA415112044 |
single nucleotide variant | NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) | ABCD1 | Pathogenic | X | 153005624 | 153005624 | C | T | criteria provided, single submitter | ClinGen:CA415111462 |
Indel | NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) | ABCD1 | Pathogenic | X | 152990737 | 152990743 | AGGCCCC | CT | criteria provided, single submitter | ClinGen:CA658799880 |
Deletion | NC_000023.10:g.(?_153008421)_(153009209_?)del | ABCD1 | Pathogenic | X | 153008421 | 153009209 | na | na | criteria provided, single submitter | - |