single nucleotide variant | NM_000551.4(VHL):c.208G>T (p.Glu70Ter) | VHL | Pathogenic | 3 | 10183739 | 10183739 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602179 |
single nucleotide variant | NM_000551.4(VHL):c.214T>C (p.Ser72Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10183745 | 10183745 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA357006 |
single nucleotide variant | NM_000551.4(VHL):c.217C>T (p.Gln73Ter) | VHL | Pathogenic | 3 | 10183748 | 10183748 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA357036 |
Deletion | NM_000551.4(VHL):c.219_220del (p.Gln73fs) | VHL | Pathogenic | 3 | 10183750 | 10183751 | AGG | A | criteria provided, single submitter | ClinGen:CA020116 |
Deletion | NM_000551.4(VHL):c.226_227del (p.Phe76fs) | VHL | Pathogenic | 3 | 10183757 | 10183758 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611078 |
single nucleotide variant | NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) | VHL | Likely pathogenic | 3 | 10183763 | 10183763 | A | T | criteria provided, single submitter | ClinGen:CA357056 |
single nucleotide variant | NM_000551.4(VHL):c.232A>C (p.Asn78His) | VHL | Pathogenic | 3 | 10183763 | 10183763 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.232A>G (p.Asn78Asp) | VHL | Pathogenic/Likely pathogenic | 3 | 10183763 | 10183763 | A | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000551.4(VHL):c.233del (p.Asn78fs) | VHL | Pathogenic | 3 | 10183763 | 10183763 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.233A>G (p.Asn78Ser) | VHL | Pathogenic | 3 | 10183764 | 10183764 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020131,UniProtKB:P40337#VAR_005683 |