single nucleotide variant | NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974780 | 21974780 | A | G | criteria provided, multiple submitters, no conflicts | - |
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.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.146T>G (p.Ile49Ser) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974681 | 21974681 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086481 |
single nucleotide variant | NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974759 | 21974759 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618835 |
single nucleotide variant | NM_000077.5(CDKN2A):c.151-1G>T | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971208 | 21971208 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618833 |
single nucleotide variant | NM_000077.5(CDKN2A):c.458-105A>G | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21968346 | 21968346 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612773,OMIM:600160.0014 |
single nucleotide variant | NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974732 | 21974732 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582657,UniProtKB:P42771#VAR_001416 |
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.149A>G (p.Gln50Arg) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974678 | 21974678 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578849,UniProtKB:P42771#VAR_001423 |