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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107303340, VHL
(V165fs +1 more)
Deletion
(frameshift variant +2 more)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(H125fs)
Microsatellite
(intron variant +2 more)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(Y134* +1 more)
Duplication
(nonsense +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(S127fs +1 more)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(L169fs +1 more)
Duplication
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(I151V)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(N150fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(A122fs)
Duplication
(frameshift variant +1 more)
Chuvash polycythemia
+2 more
GPathogenic
LOC107303340, VHL
(L137fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
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
(C162* +1 more)
Single nucleotide variant
(nonsense +1 more)
Chuvash polycythemia
+2 more
GPathogenic
LOC107303340, VHL
(F148fs)
Deletion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(L118fs)
Insertion
(frameshift variant +1 more)
Chuvash polycythemia
+2 more
GPathogenic
VHL
(W88C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(N150fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(L89P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(S168fs +1 more)
Insertion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GPathogenic/Likely pathogenic
VHL
(N78S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GPathogenic
VHL
(Y98H)
Single nucleotide variant
(missense variant)
VHL-related disorder
+4 more
GPathogenic
LOC107303340, VHL
(S183* +1 more)
Single nucleotide variant
(nonsense +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
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