single nucleotide variant | NM_001614.5(ACTG1):c.863A>G (p.Asp288Gly) | ACTG1 | Likely pathogenic | 17 | 79478074 | 79478074 | T | C | criteria provided, single submitter | ClinGen:CA10603415 |
single nucleotide variant | NM_001614.5(ACTG1):c.131T>A (p.Met44Lys) | ACTG1 | Likely pathogenic | 17 | 79479161 | 79479161 | A | T | criteria provided, single submitter | ClinGen:CA10603616 |
single nucleotide variant | NM_001614.5(ACTG1):c.43G>C (p.Gly15Arg) | ACTG1 | Likely pathogenic | 17 | 79479338 | 79479338 | C | G | criteria provided, single submitter | ClinGen:CA16043020 |
single nucleotide variant | NM_001614.5(ACTG1):c.637A>C (p.Lys213Gln) | ACTG1 | Likely pathogenic | 17 | 79478379 | 79478379 | T | G | criteria provided, single submitter | ClinGen:CA16607875 |
single nucleotide variant | NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) | ACTG1 | Likely pathogenic | 17 | 79478586 | 79478586 | C | T | criteria provided, single submitter | ClinGen:CA401461230 |
single nucleotide variant | NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) | ACTG1 | Likely pathogenic | 17 | 79478405 | 79478405 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA401460450 |
single nucleotide variant | NM_001614.5(ACTG1):c.457A>G (p.Met153Val) | ACTG1 | Likely pathogenic | 17 | 79478559 | 79478559 | T | C | criteria provided, single submitter | ClinGen:CA401461116 |
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 |
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.206A>G (p.Tyr69Cys) | ACTG1 | Likely pathogenic | 17 | 79479086 | 79479086 | T | C | criteria provided, single submitter | ClinGen:CA401463179 |