single nucleotide variant | NM_005184.4(CALM3):c.286G>C (p.Asp96His) | CALM3 | Pathogenic | 19 | 47112103 | 47112103 | G | C | criteria provided, single submitter | ClinGen:CA16616292 |
single nucleotide variant | NM_005184.4(CALM3):c.396T>A (p.Asp132Glu) | CALM3 | Pathogenic | 19 | 47112213 | 47112213 | T | A | criteria provided, single submitter | ClinGen:CA16620863 |
single nucleotide variant | NM_005184.4(CALM3):c.422A>G (p.Glu141Gly) | CALM3 | Likely pathogenic | 19 | 47112382 | 47112382 | A | G | criteria provided, single submitter | ClinGen:CA406473868 |
Deletion | NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) | CASQ2 | Pathogenic | 1 | 116283415 | 116283430 | CCTTAAGAATATACAGG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA258047,OMIM:114251.0002 |
Deletion | NM_001232.4(CASQ2):c.62del (p.Glu21fs) | CASQ2 | Pathogenic | 1 | 116311101 | 116311101 | CT | C | criteria provided, single submitter | ClinGen:CA343942 |
single nucleotide variant | NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116311066 | 116311066 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA301925 |
Indel | NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs) | CASQ2 | Likely pathogenic | 1 | 116275548 | 116275550 | TGA | GT | criteria provided, single submitter | ClinGen:CA261480 |
single nucleotide variant | NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn) | CASQ2 | Likely pathogenic | 1 | 116311069 | 116311069 | C | T | criteria provided, single submitter | ClinGen:CA301922 |
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.923C>T (p.Pro308Leu) | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116247829 | 116247829 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA301936 |