Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) | RAF1 | Likely pathogenic | 3 | 12627244 | 12627244 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA257064,UniProtKB:P04049#VAR_037819,OMIM:164760.0003 |
single nucleotide variant | NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) | TTN | Likely pathogenic | 2 | 179391848 | 179391848 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA341209,OMIM:188840.0005 |
single nucleotide variant | NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) | TTN | Likely pathogenic | 2 | 179647707 | 179647707 | A | G | criteria provided, single submitter | ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003 |
single nucleotide variant | NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) | TNNC1 | Likely pathogenic | 3 | 52485301 | 52485301 | C | T | criteria provided, single submitter | ClinGen:CA122392,OMIM:191040.0001 |