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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHB
(R90*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic
VHL
Single nucleotide variant
Von Hippel-Lindau syndrome
+3 more
GUncertain significance
VHL
Single nucleotide variant
Von Hippel-Lindau syndrome
+4 more
GConflicting classifications of pathogenicity
VHL
(A5fs)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
VHL
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GLikely benign
VHL
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
VHL
(M1I)
Single nucleotide variant
(missense variant +1 more)
Nonpapillary renal cell carcinoma
+6 more
GConflicting classifications of pathogenicity
VHL
(E10K)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
VHL
(A11P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
VHL
(E12D)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+5 more
GUncertain significance
VHL
(G14R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GUncertain significance
VHL
(G24C)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GUncertain significance
VHL
(G30R)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+4 more
GConflicting classifications of pathogenicity
VHL
(E32G)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+5 more
GUncertain significance
VHL
(G39V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
VHL
(E42A)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+5 more
GUncertain significance
VHL
(G44R)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+3 more
GUncertain significance
VHL
(E52*)
Single nucleotide variant
(nonsense)
Pheochromocytoma
+7 more
GUncertain significance
VHL
(A56G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
VHL
(A56V)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GUncertain significance
VHL
(R58W)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+5 more
GConflicting classifications of pathogenicity
VHL
(P61A)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
VHL
(R69G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
VHL
(V74A)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GUncertain significance
VHL
(R79G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
VHL
(V84A)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+5 more
GUncertain significance
VHL
Single nucleotide variant
(synonymous variant)
Chuvash polycythemia
+4 more
GLikely benign
VHL
(D92V)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+6 more
GUncertain significance
VHL
(T100A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
VHL
(R107G)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+4 more
GPathogenic/Likely pathogenic
VHL
(R108H)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(L115F)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+4 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(H125Y)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(T133I)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+4 more
GUncertain significance
LOC107303340, VHL
(F136L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
LOC107303340, VHL
(N141S)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+5 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GLikely benign
LOC107303340, VHL
(G144R)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
LOC107303340, VHL
(I147V)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+6 more
GUncertain significance
LOC107303340, VHL
Single nucleotide variant
(intron variant)
not specified
+5 more
GLikely benign
LOC107303340, VHL
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
LOC107303340, VHL
(R167W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(V170I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
LOC107303340, VHL
(R136T +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GUncertain significance
LOC107303340, VHL
(Y185C +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+6 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(P192S +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(R205H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(G212* +1 more)
Single nucleotide variant
(nonsense +1 more)
Chuvash polycythemia
+5 more
GUncertain significance
LOC107303340, VHL
(D213H +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+3 more
GUncertain significance
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