Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000551.4(VHL):c.563T>C (p.Leu188Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10191570 | 10191570 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) | VHL | Pathogenic/Likely pathogenic | 3 | 10183867 | 10183867 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.344A>G (p.His115Arg) | VHL | Pathogenic/Likely pathogenic | 3 | 10188201 | 10188201 | A | G | criteria provided, multiple submitters, no conflicts | - |