U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from PubMed

Items: 44

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
VHL
(S111R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
LOC107303340, VHL
(Y134* +1 more)
Duplication
(nonsense +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(S65T)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(S127fs +1 more)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(S80N)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
FANCD2, VHL
Deletion
Chuvash polycythemia
+1 more
GPathogenic
FANCD2, VHL
Deletion
Chuvash polycythemia
+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
BRK1, FANCD2
+2 more
Deletion
Chuvash polycythemia
+1 more
GPathogenic
BRK1, FANCD2
+2 more
Deletion
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(A122fs)
Duplication
(frameshift variant +1 more)
Chuvash polycythemia
+2 more
GPathogenic
BRK1, FANCD2
+7 more
Deletion
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
Deletion
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, VHL
(L137fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
LOC107303340, VHL
(R161G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
VHL
(W88C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GPathogenic
LOC107303340, VHL
(F136C)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GConflicting classifications of pathogenicity
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
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
(D126fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
LOC107303340, LOC129936148
+7 more
Deletion
Von Hippel-Lindau syndrome
+1 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
LOC107303340, VHL
(C162W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+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
VHL
(S65*)
Single nucleotide variant
(nonsense)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
LOC107303340, VHL
(N150fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(S65L)
Single nucleotide variant
(missense variant)
Retinal capillary hemangioma
+5 more
GPathogenic
LOC107303340, VHL
(S168fs +1 more)
Insertion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GPathogenic/Likely pathogenic
VHL
(S65W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
VHL
(P81S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GConflicting classifications of pathogenicity
VHL
(Y98H)
Single nucleotide variant
(missense variant)
VHL-related disorder
+4 more
GPathogenic
LOC107303340, VHL
(R161* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
LOC107303340, VHL
(R167Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(S183* +1 more)
Single nucleotide variant
(nonsense +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
Format
Items per page
Sort by
Choose Destination