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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
(P25L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
VHL
(E52K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
VHL
(P81S)
Single nucleotide variant
(missense variant)
Chuvash polycythemia
+4 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(I180V +1 more)
Single nucleotide variant
(missense variant +1 more)
Von Hippel-Lindau syndrome
+4 more
GUncertain significance
LOC107303340, VHL
(R210W +1 more)
Single nucleotide variant
(missense variant +1 more)
Maffucci syndrome
+4 more
GConflicting classifications of pathogenicity
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