single nucleotide variant | NM_000551.4(VHL):c.362A>G (p.Asp121Gly) | VHL | Pathogenic/Likely pathogenic | 3 | 10188219 | 10188219 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA357083,UniProtKB:P40337#VAR_005730 |
Deletion | NM_000551.4(VHL):c.402del (p.Glu134fs) | VHL | Pathogenic | 3 | 10188258 | 10188258 | GA | G | criteria provided, single submitter | ClinGen:CA357054 |
single nucleotide variant | NM_000551.4(VHL):c.414A>G (p.Pro138=) | VHL | Pathogenic | 3 | 10188271 | 10188271 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA357138,OMIM:608537.0033 |
single nucleotide variant | NM_000551.4(VHL):c.430G>T (p.Gly144Ter) | VHL | Pathogenic | 3 | 10188287 | 10188287 | G | T | criteria provided, single submitter | ClinGen:CA357109 |
Deletion | NM_000551.4(VHL):c.435_436del (p.Gln145fs) | VHL | Pathogenic | 3 | 10188292 | 10188293 | AGC | A | criteria provided, single submitter | ClinGen:CA357041 |
Deletion | NM_000551.4(VHL):c.444del (p.Phe148fs) | VHL | Pathogenic | 3 | 10188297 | 10188297 | AT | A | criteria provided, single submitter | ClinGen:CA357018 |
single nucleotide variant | NM_000551.4(VHL):c.445G>A (p.Ala149Thr) | VHL | Pathogenic | 3 | 10188302 | 10188302 | G | A | criteria provided, single submitter | ClinGen:CA357066,UniProtKB:P40337#VAR_005740 |
single nucleotide variant | NM_000551.4(VHL):c.445G>C (p.Ala149Pro) | VHL | Pathogenic | 3 | 10188302 | 10188302 | G | C | criteria provided, single submitter | ClinGen:CA357120 |
single nucleotide variant | NM_000551.4(VHL):c.463G>A (p.Val155Met) | VHL | Pathogenic | 3 | 10188320 | 10188320 | G | A | criteria provided, single submitter | ClinGen:CA357026 |
single nucleotide variant | NM_000551.4(VHL):c.464-2A>G | VHL | Pathogenic | 3 | 10191469 | 10191469 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA357046 |