single nucleotide variant | NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) | AIFM1 | Likely pathogenic | X | 129267384 | 129267384 | C | T | criteria provided, single submitter | ClinGen:CA279885,UniProtKB:O95831#VAR_076217,OMIM:300169.0003 |
single nucleotide variant | NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly) | AIFM1 | Likely pathogenic | X | 129270141 | 129270141 | A | C | criteria provided, single submitter | ClinGen:CA322395 |
single nucleotide variant | NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) | AIFM1 | Pathogenic/Likely pathogenic | X | 129270061 | 129270061 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA175066,UniProtKB:O95831#VAR_076215,OMIM:300169.0006 |
single nucleotide variant | NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) | AIFM1 | Pathogenic | X | 129270060 | 129270060 | C | T | criteria provided, single submitter | ClinGen:CA175068,UniProtKB:O95831#VAR_076214,OMIM:300169.0007 |
single nucleotide variant | NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) | ACTG1 | Likely pathogenic | 17 | 79477842 | 79477842 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001614.5(ACTG1):c.277G>A (p.Glu93Lys) | ACTG1 | Likely pathogenic | 17 | 79479015 | 79479015 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001614.5(ACTG1):c.847A>G (p.Met283Val) | ACTG1 | Likely pathogenic | 17 | 79478090 | 79478090 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys) | ACTG1 | Likely pathogenic | 17 | 79479086 | 79479086 | T | C | criteria provided, single submitter | ClinGen:CA401463179 |
single nucleotide variant | NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) | ACTG1 | Pathogenic/Likely pathogenic | 17 | 79477840 | 79477840 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA401458580 |
single nucleotide variant | NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) | ACTG1 | Likely pathogenic | 17 | 79478399 | 79478399 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA401460425 |