Deletion | NC_000009.12:g.(?_21968219)_(21994341_?)del | CDKN2A | Pathogenic | 9 | 21968218 | 21994340 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter) | CDKN2A | Pathogenic | 9 | 21994234 | 21994234 | C | A | criteria provided, single submitter | - |
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.159G>A (p.Met53Ile) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971199 | 21971199 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA190730408 |
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 |
Duplication | NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) | CDKN2A | Pathogenic | 9 | 21974695 | 21974696 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA5012308 |
single nucleotide variant | NM_000077.5(CDKN2A):c.151-2A>G | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971209 | 21971209 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086464 |
single nucleotide variant | NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter) | CDKN2A | Pathogenic | 9 | 21974695 | 21974695 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086506 |
Deletion | NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs) | CDKN2A | Likely pathogenic | 9 | 21971003 | 21971018 | TCAGCCAGGTCCACGGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656026 |