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.212A>G (p.Asn71Ser) | CDKN2A | Likely pathogenic | 9 | 21971146 | 21971146 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA5012207 |
single nucleotide variant | NM_000077.5(CDKN2A):c.150+2T>C | CDKN2A | Likely pathogenic | 9 | 21974675 | 21974675 | A | G | criteria provided, single submitter | ClinGen:CA16612864 |
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_058195.4(CDKN2A):c.193+1G>A | CDKN2A | Pathogenic | 9 | 21994137 | 21994137 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612794,OMIM:600160.0020 |
Deletion | NM_000077.5(CDKN2A):c.358del (p.Glu120fs) | CDKN2A | Pathogenic | 9 | 21971000 | 21971000 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612781 |
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.249C>G (p.His83Gln) | CDKN2A | Pathogenic | 9 | 21971109 | 21971109 | G | C | criteria provided, single submitter | ClinGen:CA16602820 |
single nucleotide variant | NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter) | CDKN2A | Pathogenic | 9 | 21971186 | 21971186 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602756 |