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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107303340, VHL
(N131fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(L89F)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GConflicting classifications of pathogenicity
VHL
(G93V)
Indel
(missense variant)
Chuvash polycythemia
+2 more
GLikely pathogenic
VHL
Single nucleotide variant
(synonymous variant)
Chuvash polycythemia
+2 more
GConflicting classifications of pathogenicity
VHL
(R82L)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(K118fs +1 more)
Indel
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
LOC107303340, VHL
(F136S)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(Q132P)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(L128F)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GUncertain significance
LOC107303340, VHL
(H115Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC107303340, VHL
(H115Q)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(I151T)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GPathogenic
LOC107303340, VHL
(R120G)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GLikely pathogenic
VHL
(F76del)
Microsatellite
(inframe_deletion)
Von Hippel-Lindau syndrome
+4 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(R210W +1 more)
Single nucleotide variant
(missense variant +1 more)
Maffucci syndrome
+4 more
GConflicting classifications of pathogenicity
VHL
(L89P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(S65fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
VHL
(P86S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(E186K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
LOC107303340, VHL
(I180V +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(Y156C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
VHL
(R107G)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+4 more
GPathogenic/Likely pathogenic
VHL
(L63P)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GUncertain significance
LOC107303340, VHL
(V166F +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GPathogenic
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