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Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCD2, LOC107303338
+1 more
Single nucleotide variant
(splice donor variant)
Fanconi anemia
+2 more
GConflicting classifications of pathogenicity
VHL
Deletion
Chuvash polycythemia
GLikely pathogenic
VHL
(A5fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
VHL
(P2A)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GUncertain significance
VHL
(P2R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
VHL
(A5T)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
GUncertain significance
VHL
(A5V)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+3 more
GUncertain significance
VHL
(D9N)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+3 more
GConflicting classifications of pathogenicity
VHL
(E10K)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
VHL
(E10V)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GUncertain significance
VHL
(E12L)
Indel
(missense variant)
Chuvash polycythemia
+3 more
GUncertain significance
VHL
(E12Q)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GUncertain significance
VHL
(A15T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
VHL
(E17D)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GUncertain significance
VHL
(E21A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
VHL
(G24C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GUncertain significance
VHL
(G24D)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GUncertain significance
VHL
(E27A)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(G29C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GUncertain significance
VHL
(G29V)
Indel
(missense variant)
Chuvash polycythemia
+4 more
GUncertain significance
VHL
(G30E)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GLikely benign
VHL
Duplication
(inframe_insertion)
Von Hippel-Lindau syndrome
+3 more
GUncertain significance
VHL
(E31*)
Single nucleotide variant
(nonsense)
Von Hippel-Lindau syndrome
+2 more
GUncertain significance
VHL
(S33L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
VHL
Duplication
(inframe_insertion)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
VHL
(A35D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
VHL
Duplication
(inframe_insertion)
Chuvash polycythemia
+3 more
GConflicting classifications of pathogenicity
VHL
(P40S)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GUncertain significance
VHL
(E42A)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+5 more
GUncertain significance
VHL
(G44C)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GUncertain significance
VHL
(E47K)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GUncertain significance
VHL
(E53del)
Microsatellite
(inframe_indel +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(E52*)
Single nucleotide variant
(nonsense)
Von Hippel-Lindau syndrome
+7 more
GUncertain significance
VHL
(E55D)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
GUncertain significance
VHL
(A56G)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+5 more
GUncertain significance
VHL
(G57W)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GUncertain significance
VHL
(V62A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
VHL
(R64H)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GUncertain significance
VHL
(R69G)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+5 more
GUncertain significance
VHL
(E70G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
VHL
(Q73R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
VHL
(Q73H)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(C77R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
VHL
(C77F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
VHL
(R79C)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
VHL
(P81L)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+3 more
GPathogenic/Likely pathogenic
VHL
(L85V)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GUncertain significance
VHL
(W88R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GPathogenic
VHL
(N90S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
VHL
(D92V)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+6 more
GUncertain significance
VHL
(G93S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(P102R)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
LOC107303340, VHL
(S139F)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(S139C)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GUncertain significance
LOC107303340, VHL
(N141S)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
LOC107303340, VHL
(D143H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
LOC107303340, VHL
(G144E)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GUncertain significance
LOC107303340, VHL
(Q145R)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(I147V)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+6 more
GUncertain significance
LOC107303340, VHL
(N150S)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+4 more
GUncertain significance
LOC107303340, VHL
(P154S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(P154R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
LOC107303340, VHL
(E119fs +1 more)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
LOC107303340, VHL
(R167W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(S127N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LOC107303340, VHL
(V170I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
LOC107303340, VHL
(K130N +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GUncertain significance
LOC107303340, VHL
(K171N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
LOC107303340, VHL
(R182G +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(R182K +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+5 more
GUncertain significance
LOC107303340, VHL
(S183L +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GUncertain significance
LOC107303340, VHL
(Y144N +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(Y185C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(E186K +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GUncertain significance
LOC107303340, VHL
(L188V +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
LOC107303340, VHL
(H191R +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(H191P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(P151T +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(P192S +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(N193S +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GUncertain significance
LOC107303340, VHL
(K196E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(D197A +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(E158G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LOC107303340, VHL
(E199A +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GUncertain significance
LOC107303340, VHL
(R200Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(T202I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
LOC107303340, VHL
(Q203R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
LOC107303340, VHL
(R205G +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GUncertain significance
LOC107303340, VHL
(R205C +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(I165V +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(H167D +1 more)
Single nucleotide variant
(missense variant +2 more)
Chuvash polycythemia
GUncertain significance
LOC107303340, VHL
(R210W +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+4 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(G212* +1 more)
Single nucleotide variant
(nonsense +1 more)
Von Hippel-Lindau syndrome
GUncertain significance
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