Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974756 | 21974756 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA120395,UniProtKB:P42771#VAR_001414,OMIM:600160.0008 |
single nucleotide variant | NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) | CDKN2A | Pathogenic | 9 | 21971199 | 21971199 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA120391,UniProtKB:P42771#VAR_001424,OMIM:600160.0007 |
single nucleotide variant | NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) | CDKN2A | Pathogenic | 9 | 21971057 | 21971057 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA120387,UniProtKB:P42771#VAR_001464,OMIM:600160.0005 |
single nucleotide variant | NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971120 | 21971120 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA120380,OMIM:600160.0002 |