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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0C
(A138P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMDHD2, ATP6V0C
+26 more
Deletion
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
ABCA3, AMDHD2
+142 more
Duplication
Idiopathic generalized epilepsy
+2 more
GUncertain significance
ABCA3, ADCY9
+170 more
Duplication
Hyperaldosteronism, familial, type IV
+3 more
GUncertain significance
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