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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
(E70A)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GUncertain significance
VHL
(E70D)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(T152P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VHL
(E70Q)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GLikely pathogenic
VHL
(L89F)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(Q132P)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(V130F)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GConflicting classifications of pathogenicity
VHL
(W88R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(W88R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GPathogenic
LOC107303340, VHL
(I151T)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GPathogenic
LOC107303340, VHL
(L178P +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
VHL
(S111N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(P86R)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+3 more
GPathogenic/Likely pathogenic
VHL
(E70G)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GConflicting classifications of pathogenicity
VHL
(P86L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(P86S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(I180V +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
VHL
(P86A)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(V166A +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic/Likely pathogenic
VHL
(E70K)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(Q164R +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GPathogenic
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