Insertion | NM_000719.7(CACNA1C):c.3717+1_3717+2insA | CACNA1C | Likely pathogenic | 12 | 2719866 | 2719867 | G | GA | criteria provided, single submitter | ClinGen:CA645372906 |
single nucleotide variant | NM_000719.7(CACNA1C):c.2977G>C (p.Val993Leu) | CACNA1C | Likely pathogenic | 12 | 2714263 | 2714263 | G | C | criteria provided, single submitter | ClinGen:CA383373588 |
single nucleotide variant | NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) | CACNA1C | Likely pathogenic | 12 | 2763013 | 2763013 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA383373944,OMIM:114205.0011 |
single nucleotide variant | NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) | CACNA1C | Likely pathogenic | 12 | 2675688 | 2675688 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA383368599 |
single nucleotide variant | NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu) | CACNA1C | Likely pathogenic | 12 | 2763013 | 2763013 | G | C | criteria provided, single submitter | ClinGen:CA383373945 |
single nucleotide variant | NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) | CALM1 | Likely pathogenic | 14 | 90867729 | 90867729 | A | T | criteria provided, single submitter | ClinGen:CA343809,UniProtKB:P62158#VAR_069222,OMIM:114180.0001 |
single nucleotide variant | NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) | CALM1 | Likely pathogenic | 14 | 90870295 | 90870295 | T | C | criteria provided, single submitter | ClinGen:CA186017,UniProtKB:P62158#VAR_073275,OMIM:114180.0005 |
single nucleotide variant | NM_006888.6(CALM1):c.88A>C (p.Thr30Pro) | CALM1 | Likely pathogenic | 14 | 90867656 | 90867656 | A | C | criteria provided, single submitter | ClinGen:CA16606882 |
single nucleotide variant | NM_006888.6(CALM1):c.313G>A (p.Glu105Lys) | CALM1 | Likely pathogenic | 14 | 90870750 | 90870750 | G | A | criteria provided, single submitter | ClinGen:CA16606883 |
single nucleotide variant | NM_006888.6(CALM1):c.419A>T (p.Glu140Val) | CALM1 | Likely pathogenic | 14 | 90870856 | 90870856 | A | T | criteria provided, single submitter | ClinGen:CA16619892 |