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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
BAIAP3, BRICD5
+162 more
Copy number gain
See cases
GPathogenic
MIR1225, PKD1
+2 more
Copy number gain
See cases
GUncertain significance
MIR1225, PKD1
+2 more
(R3750Q +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+2 more
GConflicting classifications of pathogenicity
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