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.286G>T (p.Asp96Tyr) | CALM2 | Pathogenic | 2 | 47388997 | 47388997 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) | TECRL | Likely pathogenic | 4 | 65175614 | 65175614 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2935458,OMIM:617242.0002 |
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.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.293A>G (p.Asn98Ser) | CALM1 | Pathogenic/Likely pathogenic | 14 | 90870730 | 90870730 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA343812,UniProtKB:P62158#VAR_069223,OMIM:114180.0002 |
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.389A>G (p.Asp130Gly) | CALM1 | Pathogenic/Likely pathogenic | 14 | 90870826 | 90870826 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA186013,UniProtKB:P62158#VAR_073278,OMIM:114180.0003 |
single nucleotide variant | NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) | CALM1 | Pathogenic | 14 | 90870831 | 90870831 | G | A | criteria provided, single submitter | - |