Deletion | NM_000077.5(CDKN2A):c.175_212del (p.Val59fs) | CDKN2A | Pathogenic | 9 | 21971146 | 21971183 | GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC | G | criteria provided, single submitter | ClinGen:CA10578843 |
Deletion | NM_000077.5(CDKN2A):c.221del (p.Asp74fs) | CDKN2A | Pathogenic | 9 | 21971137 | 21971137 | GT | G | criteria provided, single submitter | - |
Deletion | NM_000077.5(CDKN2A):c.238del (p.Arg80fs) | CDKN2A | Likely pathogenic | 9 | 21971120 | 21971120 | CG | C | criteria provided, single submitter | - |
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 |
Deletion | NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) | CDKN2A | Pathogenic | 9 | 21971115 | 21971133 | CGGGTCGGGTGAGAGTGGCG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA299023 |
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 |
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.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.262G>T (p.Glu88Ter) | CDKN2A | Pathogenic | 9 | 21971096 | 21971096 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602751 |