Indel | NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) | VHL | Likely pathogenic | 3 | 10188276 | 10188284 | TCAATGTTG | ACAATTATTTGTGCCATCTCTCAA | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.413del (p.Pro138fs) | VHL | Pathogenic | 3 | 10188269 | 10188269 | GC | G | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.397del (p.Thr133fs) | VHL | Pathogenic | 3 | 10188252 | 10188252 | CA | C | criteria provided, single submitter | - |
Duplication | NM_000551.4(VHL):c.393_394dup (p.Gln132fs) | VHL | Pathogenic | 3 | 10188249 | 10188250 | A | ACC | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.381del (p.Leu128fs) | VHL | Pathogenic | 3 | 10188236 | 10188236 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.357C>G (p.Phe119Leu) | VHL | Pathogenic | 3 | 10188214 | 10188214 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.350G>A (p.Trp117Ter) | VHL | Pathogenic | 3 | 10188207 | 10188207 | G | A | criteria provided, single submitter | - |
Duplication | NM_000551.4(VHL):c.346dup (p.Leu116fs) | VHL | Pathogenic | 3 | 10188201 | 10188202 | A | AC | criteria provided, single submitter | - |
Duplication | NM_000551.4(VHL):c.304_305dup (p.Pro103fs) | VHL | Pathogenic | 3 | 10183834 | 10183835 | G | GCC | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.294C>G (p.Tyr98Ter) | VHL | Pathogenic | 3 | 10183825 | 10183825 | C | G | criteria provided, single submitter | - |