Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs) | CDKN2A | Likely pathogenic | 9 | 21970997 | 21970998 | G | GCT | criteria provided, single submitter | - |
single nucleotide variant | NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) | CDKN2A | Pathogenic | 9 | 21970981 | 21970981 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013 |
Indel | NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs) | CDKN2A | Likely pathogenic | 9 | 21970965 | 21970977 | GCGCAGGTACCGT | CGCATC | criteria provided, single submitter | ClinGen:CA658656022 |
single nucleotide variant | NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21970901 | 21970901 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA337714 |
Deletion | NC_000009.12:g.(?_21970896)_(21974833_?)del | CDKN2A | Pathogenic | 9 | 21970895 | 21974832 | na | na | criteria provided, single submitter | - |
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 |
Deletion | NC_000009.12:g.(?_21968219)_(21994341_?)del | CDKN2A | Pathogenic | 9 | 21968218 | 21994340 | na | na | criteria provided, single submitter | - |