ClinVar for MedGen (Select 1717186) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698994	NM_005765.3(ATP6AP2):c.1028C>G (p.Thr343Arg)	ATP6AP2 (T343R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIr	GUncertain significance
Select item 1192374	NM_005765.3(ATP6AP2):c.534+45G>C	ATP6AP2	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type IIr +2 more	GBenign
Select item 869366	NM_005765.3(ATP6AP2):c.293T>C (p.Leu98Ser)	ATP6AP2 (L98S)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIr	GPathogenic
Select item 389602	NM_005765.3(ATP6AP2):c.212G>A (p.Arg71His)	ATP6AP2 (R71H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204912	NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)	ATP6AP2 (V164I)	Single nucleotide variant (missense variant)	X-linked parkinsonism-spasticity syndrome +3 more	GConflicting classifications of pathogenicity
Select item 199113	NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)	ATP6AP2	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Hedera type +3 more	GBenign/Likely benign
Select item 136465	NM_005765.3(ATP6AP2):c.38-5T>C	ATP6AP2	Single nucleotide variant (intron variant)	ATP6AP2-related condition +4 more	GBenign/Likely benign

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