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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
(P25L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
VHL
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
VHL
(S65W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
VHL
Single nucleotide variant
(splice donor variant)
Chuvash polycythemia
+2 more
GPathogenic
VHL
Single nucleotide variant
(intron variant)
Von Hippel-Lindau syndrome
+4 more
GBenign/Likely benign
LOC107303340, VHL
(L118P)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GPathogenic
LOC107303340, VHL
(R120G)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 more
GLikely pathogenic
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Pheochromocytoma
+3 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
Single nucleotide variant
(intron variant)
Chuvash polycythemia
+4 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(V166A +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(R167Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(V170D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
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