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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1
(P2293S)
Single nucleotide variant
(missense variant)
Multiple renal cysts
+2 more
GLikely pathogenic
PKD1
(V3062D)
Single nucleotide variant
(missense variant)
Hypertensive disorder
+4 more
GLikely pathogenic
LOC107303339, VHL
Deletion
Pancreatic cysts
+1 more
GPathogenic
VHL
(S65L)
Single nucleotide variant
(missense variant)
Retinal capillary hemangioma
+5 more
GPathogenic
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