Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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.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.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.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.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 |