Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334425 | 201334425 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004273,OMIM:191045.0002 |
single nucleotide variant | NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) | TNNT2 | Pathogenic | 1 | 201334766 | 201334766 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004157,OMIM:191045.0001 |
single nucleotide variant | NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) | PSEN2 | Pathogenic/Likely pathogenic | 1 | 227073246 | 227073246 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA224950,UniProtKB:P49810#VAR_009214,OMIM:600759.0005 |
single nucleotide variant | NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) | PSEN2 | Pathogenic | 1 | 227073304 | 227073304 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA224953,UniProtKB:P49810#VAR_006462,OMIM:600759.0001 |