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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
(M1I)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+6 more
GConflicting classifications of pathogenicity
VHL
(P25L)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GBenign
VHL
(P40L)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
GBenign
LOC107303340, VHL
(E186D +1 more)
Single nucleotide variant
(missense variant +1 more)
Chuvash polycythemia
+2 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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