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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VHL
(E70K)
Single nucleotide variant
(missense variant)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
VHL
(F76del)
Microsatellite
(inframe_deletion)
Von Hippel-Lindau syndrome
+4 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(R167Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+5 more
GConflicting classifications of pathogenicity
LOC107303340, VHL
(Q195* +1 more)
Single nucleotide variant
(nonsense +1 more)
Von Hippel-Lindau syndrome
+1 more
GPathogenic
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