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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V0A2
(L161W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP6V0A2
(R339H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
ATP6V0A2
(K374R)
Single nucleotide variant
(missense variant)
ALG9 congenital disorder of glycosylation
+3 more
GBenign
ATP6V0A2
(R685Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
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