ClinVar for MedGen (Select 98030) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1462973	NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)	ATP6V0A2 (R776H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 1368713	NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)	ATP6V0A2, LOC130009117 (M10V)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 1309768	NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)	ATP6V0A2 (V295I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1303408	NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)	ATP6V0A2 (R141H)	Single nucleotide variant (missense variant)	Wrinkly skin syndrome +3 more	GUncertain significance
Select item 1192375	NM_012463.4(ATP6V0A2):c.649-114T>G	ATP6V0A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1190639	NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)	ATP6V0A2 (I180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1183408	NM_012463.4(ATP6V0A2):c.294+103T>C	ATP6V0A2	Single nucleotide variant (intron variant)	Cutis laxa with osteodystrophy +2 more	GBenign
Select item 982811	NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp)	ATP6V0A2 (E741D)	Single nucleotide variant (missense variant)	Wrinkly skin syndrome	GUncertain significance
Select item 932514	NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)	ATP6V0A2 (V556M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 872301	NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)	ATP6V0A2 (D706N)	Single nucleotide variant (missense variant)	Wrinkly skin syndrome +3 more	GUncertain significance
Select item 512155	NM_012463.4(ATP6V0A2):c.1327-16G>A	ATP6V0A2	Single nucleotide variant (intron variant)	Cutis laxa with osteodystrophy +3 more	GBenign/Likely benign
Select item 451817	NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)	ATP6V0A2 (R340W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 390767	NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	ATP6V0A2 (R141L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 307597	NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)	ATP6V0A2 (G778V)	Single nucleotide variant (missense variant)	Wrinkly skin syndrome +3 more	GUncertain significance
Select item 307595	NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)	ATP6V0A2 (I691T)	Single nucleotide variant (missense variant)	Wrinkly skin syndrome +3 more	GUncertain significance
Select item 307587	NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)	ATP6V0A2 (P522L)	Single nucleotide variant (missense variant)	Wrinkly skin syndrome +3 more	GUncertain significance
Select item 307580	NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	ATP6V0A2 (A205V)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 307578	NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)	ATP6V0A2 (K103N)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 260260	NM_012463.4(ATP6V0A2):c.732-23T>C	ATP6V0A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 95525	NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95524	NM_012463.4(ATP6V0A2):c.432+14C>T	ATP6V0A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 95523	NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95520	NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95519	NM_012463.4(ATP6V0A2):c.1514+1G>A	ATP6V0A2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 21499	NM_012463.4(ATP6V0A2):c.294+1G>A	ATP6V0A2	Single nucleotide variant (splice donor variant)	Cutis laxa with osteodystrophy +1 more	GPathogenic

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Items: 25