single nucleotide variant | NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) | CDKN2A | Pathogenic | 9 | 21971028 | 21971028 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602749 |
single nucleotide variant | NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter) | CDKN2A | Pathogenic | 9 | 21971029 | 21971029 | C | T | criteria provided, single submitter | ClinGen:CA16602750 |
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.296G>C (p.Arg99Pro) | CDKN2A | Likely pathogenic | 9 | 21971062 | 21971062 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086116 |
Deletion | NM_000077.5(CDKN2A):c.283del (p.Val95fs) | CDKN2A | Pathogenic | 9 | 21971075 | 21971075 | AC | A | criteria provided, single submitter | ClinGen:CA658656027 |
single nucleotide variant | NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter) | CDKN2A | Pathogenic | 9 | 21971096 | 21971096 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602751 |
single nucleotide variant | NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971098 | 21971098 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582653,UniProtKB:P42771#VAR_001451 |
single nucleotide variant | NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) | CDKN2A | Likely pathogenic | 9 | 21971099 | 21971099 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA5012197 |
single nucleotide variant | NM_000077.5(CDKN2A):c.249C>G (p.His83Gln) | CDKN2A | Pathogenic | 9 | 21971109 | 21971109 | G | C | criteria provided, single submitter | ClinGen:CA16602820 |
Deletion | NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) | CDKN2A | Pathogenic | 9 | 21971105 | 21971118 | GCGTCGTGCACGGGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA299024 |