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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1, TSC2
(R1459* +9 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 2
+3 more
GPathogenic
PKD1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PKD1
(R739Q)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+1 more
GBenign
PKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
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