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Links from PubMed

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107303340, VHL
(H115N)
Single nucleotide variant
(missense variant +2 more)
Chuvash polycythemia
+1 more
GUncertain significance
LOC107303340, VHL
(H115R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
LOC107303340, VHL
(L178R +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(E94*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
LOC107303340, VHL
(I151T)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GPathogenic
VHL
(N90I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(F76del)
Microsatellite
(inframe_deletion)
Von Hippel-Lindau syndrome
+4 more
GPathogenic/Likely pathogenic
VHL
(W88*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
VHL
(P86S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
VHL
Deletion
Von Hippel-Lindau syndrome
GLikely pathogenic
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