single nucleotide variant | NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) | CALM1 | Pathogenic | 14 | 90870831 | 90870831 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) | CALM2 | Pathogenic | 2 | 47388990 | 47388990 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA186025,UniProtKB:P62158#VAR_069223,OMIM:114182.0003 |
single nucleotide variant | NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) | CALM2 | Pathogenic | 2 | 47388990 | 47388990 | T | A | criteria provided, single submitter | ClinGen:CA186027,UniProtKB:P62158#VAR_073277,OMIM:114182.0004 |
single nucleotide variant | NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) | CALM2 | Pathogenic | 2 | 47388887 | 47388887 | A | C | criteria provided, single submitter | ClinGen:CA186030,UniProtKB:P62158#VAR_073279,OMIM:114182.0005 |
single nucleotide variant | NM_001743.6(CALM2):c.287A>T (p.Asp96Val) | CALM2 | Pathogenic | 2 | 47388996 | 47388996 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA186019,OMIM:114182.0001 |
single nucleotide variant | NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) | CALM2 | Pathogenic | 2 | 47388869 | 47388869 | G | C | criteria provided, single submitter | ClinGen:CA346719008 |
single nucleotide variant | NM_001743.6(CALM2):c.434T>G (p.Met145Arg) | CALM2 | Likely pathogenic | 2 | 47387931 | 47387931 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr) | CALM2 | Pathogenic | 2 | 47388997 | 47388997 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_005184.4(CALM3):c.395A>G (p.Asp132Gly) | CALM3 | Likely pathogenic | 19 | 47112212 | 47112212 | A | G | criteria provided, single submitter | ClinGen:CA16608277 |
single nucleotide variant | NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) | CALM3 | Pathogenic | 19 | 47111841 | 47111841 | A | C | criteria provided, single submitter | ClinGen:CA16616071 |