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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
(E52K)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GBenign
VHL
(R79C)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
VHL
(P81S)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GBenign
LOC107303340, VHL
(I180V +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
LOC107303340, VHL
(E186K +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+3 more
GUncertain significance
LOC107303340, VHL
(R200W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
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