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Items: 1 to 100 of 173

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
Deletion
Von Hippel-Lindau syndrome
GPathogenic
VHL
Deletion
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
Deletion
Chuvash polycythemia
GLikely pathogenic
VHL
Deletion
Von Hippel-Lindau syndrome
GLikely pathogenic
VHL
Deletion
Chuvash polycythemia
+1 more
GPathogenic
VHL
(E41fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(E46fs)
Insertion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(M54R)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GLikely pathogenic
VHL
(R60fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+2 more
GPathogenic
VHL
(E55fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(M54I)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GLikely pathogenic
VHL
(E55fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(G57fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(R60fs)
Deletion
(frameshift variant)
Chuvash polycythemia
+2 more
GPathogenic/Likely pathogenic
VHL
(V62fs)
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
VHL
(P61fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(P61fs)
Deletion
(frameshift variant +1 more)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(V62fs)
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(S65fs)
Duplication
(frameshift variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(L63R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(R64fs)
Duplication
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic/Likely pathogenic
VHL
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S65fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+2 more
GPathogenic
VHL
(R64S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GLikely pathogenic
VHL
(R64P)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+3 more
GPathogenic/Likely pathogenic
VHL
(S65fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
VHL
(S65T)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(S65P)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S65A)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GLikely pathogenic
VHL
(S65*)
Single nucleotide variant
(nonsense)
Von Hippel-Lindau syndrome
+2 more
GPathogenic
VHL
(S65L)
Single nucleotide variant
(missense variant)
Retinal capillary hemangioma
+5 more
GPathogenic
VHL
(S65W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
VHL
(S68P)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(E70fs)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(R69fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+2 more
GPathogenic
VHL
(S68*)
Single nucleotide variant
(nonsense)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(E70fs)
Duplication
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(E70Q)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GLikely pathogenic
VHL
(E70*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(E70K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(S72fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(S72fs)
Deletion
(non-coding transcript variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S72P)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GPathogenic/Likely pathogenic
VHL
(Q73*)
Single nucleotide variant
(nonsense)
Chuvash polycythemia
+2 more
GPathogenic
VHL
(Q73fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(V74F)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+1 more
GLikely pathogenic
VHL
(F76fs)
Duplication
(frameshift variant)
Von Hippel-Lindau syndrome
GLikely pathogenic
VHL
(V74fs)
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(I75del)
Deletion
(inframe_deletion)
Von Hippel-Lindau syndrome
GPathogenic
VHL
Single nucleotide variant
(synonymous variant)
Chuvash polycythemia
GPathogenic
VHL
(F76del)
Microsatellite
(inframe_deletion)
Chuvash polycythemia
+4 more
GPathogenic/Likely pathogenic
VHL
(F76L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(F76I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(F76fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(C77*)
Single nucleotide variant
(nonsense)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(N78fs)
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(N78D)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(N78H)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(N78Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(N78I)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GLikely pathogenic
VHL
(N78T)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GPathogenic
VHL
(N78S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GPathogenic
VHL
(R79P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(S80fs)
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S80R)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(S80G)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GPathogenic/Likely pathogenic
VHL
(S80N)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(S80I)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(R82fs)
Duplication
(frameshift variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(V87fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(P81L)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GPathogenic/Likely pathogenic
VHL
(R82G)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(R82L)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GPathogenic/Likely pathogenic
VHL
(R82P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
VHL
(V84fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(V84L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(V84L)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+3 more
GPathogenic
VHL
(V84E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(V87fs)
Duplication
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(V87fs)
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
VHL
(P86S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GPathogenic/Likely pathogenic
VHL
(P86A)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+2 more
GPathogenic/Likely pathogenic
VHL
(P86R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
VHL
(P86L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(V87fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(W88fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
VHL
(W88R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(W88R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
VHL
Duplication
(inframe_insertion)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(N90fs)
Duplication
(frameshift variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(W88*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
VHL
(W88S)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(W88*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
VHL
(W88C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+1 more
GPathogenic
VHL
(W88C)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(L89H)
Single nucleotide variant
(missense variant)
Papillary renal cell carcinoma type 1
GLikely pathogenic
VHL
(L89P)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(N90fs)
Deletion
(frameshift variant)
Von Hippel-Lindau syndrome
GPathogenic
VHL
(N90I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
VHL
(F91fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
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