single nucleotide variant | NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) | CALM1 | Likely pathogenic | 14 | 90870835 | 90870835 | G | A | criteria provided, single submitter | ClinGen:CA390690363 |
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 |
single nucleotide variant | NM_006888.6(CALM1):c.424T>C (p.Phe142Leu) | CALM1 | Pathogenic | 14 | 90871035 | 90871035 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA390690445 |
single nucleotide variant | NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) | CALM1 | Pathogenic | 14 | 90871037 | 90871037 | C | G | criteria provided, single submitter | ClinGen:CA186015,UniProtKB:P62158#VAR_073282,OMIM:114180.0004 |
Duplication | NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) | CASQ2 | Pathogenic | 1 | 116244044 | 116244045 | C | CA | criteria provided, single submitter | - |
single nucleotide variant | NM_001232.4(CASQ2):c.940-1G>T | CASQ2 | Likely pathogenic | 1 | 116245617 | 116245617 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576356 |
single nucleotide variant | NM_001232.4(CASQ2):c.939+1G>T | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116247812 | 116247812 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA29614531 |
single nucleotide variant | NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116247829 | 116247829 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA301936 |
single nucleotide variant | NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) | CASQ2 | Pathogenic | 1 | 116247896 | 116247896 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116268129 | 116268129 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA1023758 |