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 |
single nucleotide variant | NM_000551.4(VHL):c.233A>C (p.Asn78Thr) | VHL | Pathogenic | 3 | 10183764 | 10183764 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA357095,UniProtKB:P40337#VAR_005684 |
single nucleotide variant | NM_000551.4(VHL):c.233A>T (p.Asn78Ile) | VHL | Likely pathogenic | 3 | 10183764 | 10183764 | A | T | criteria provided, single submitter | ClinGen:CA357063 |
single nucleotide variant | NM_000551.4(VHL):c.238A>G (p.Ser80Gly) | VHL | Pathogenic/Likely pathogenic | 3 | 10183769 | 10183769 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020142 |
single nucleotide variant | NM_000551.4(VHL):c.238A>C (p.Ser80Arg) | VHL | Pathogenic | 3 | 10183769 | 10183769 | A | C | criteria provided, single submitter | ClinGen:CA16621913 |