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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992813, PKD2
(P120fs)
Indel
(frameshift variant +1 more)
Hypertensive disorder
+3 more
GPathogenic
MKS1
(S372del +1 more)
Deletion
(inframe_deletion)
Familial aplasia of the vermis
+9 more
GPathogenic/Likely pathogenic
COL4A5
(G1205V)
Single nucleotide variant
(missense variant)
Chronic kidney disease
+2 more
GPathogenic
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