"GeneDx"[submitter] AND "ATP6V0D2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 2429602	NM_152565.1(ATP6V0D2):c.-54C>T	ATP6V0D2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1241979	NM_152565.1(ATP6V0D2):c.130+44dup	ATP6V0D2	Duplication (intron variant)	not provided	GBenign
Select item 1240691	NM_152565.1(ATP6V0D2):c.130+31G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257365	NM_152565.1(ATP6V0D2):c.130+178A>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222534	NM_152565.1(ATP6V0D2):c.131-310G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276727	NM_152565.1(ATP6V0D2):c.302+42G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289910	NM_152565.1(ATP6V0D2):c.302+69G>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237956	NM_152565.1(ATP6V0D2):c.302+270del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1281964	NM_152565.1(ATP6V0D2):c.303-80G>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290360	NM_152565.1(ATP6V0D2):c.561+146C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248637	NM_152565.1(ATP6V0D2):c.562-69G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275202	NM_152565.1(ATP6V0D2):c.562-12T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272772	NM_152565.1(ATP6V0D2):c.639+42C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261707	NM_152565.1(ATP6V0D2):c.639+100del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1231250	NM_152565.1(ATP6V0D2):c.640-243T>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235201	NM_152565.1(ATP6V0D2):c.814G>A (p.Gly272Arg)	ATP6V0D2 (G272R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237738	NM_152565.1(ATP6V0D2):c.816+273G>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183805	NM_152565.1(ATP6V0D2):c.816+277G>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249205	NM_152565.1(ATP6V0D2):c.817-245dup	ATP6V0D2	Duplication (intron variant)	not provided	GBenign
Select item 1225134	NM_152565.1(ATP6V0D2):c.817-240T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261695	NM_152565.1(ATP6V0D2):c.817-199C>A	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224550	NM_152565.1(ATP6V0D2):c.891+215_891+218del	ATP6V0D2	Microsatellite (intron variant)	not provided	GBenign
Select item 1272376	NM_152565.1(ATP6V0D2):c.891+215_891+217del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1318316	NM_152565.1(ATP6V0D2):c.891+215C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241267	NM_152565.1(ATP6V0D2):c.891+233del	ATP6V0D2	Deletion (intron variant)	not provided	GBenign
Select item 1285746	NM_152565.1(ATP6V0D2):c.891+284C>T	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177798	NM_152565.1(ATP6V0D2):c.892-159T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248392	NM_152565.1(ATP6V0D2):c.892-34T>C	ATP6V0D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239267	NM_152565.1(ATP6V0D2):c.207_208del	ATP6V0D2	Deletion (3 prime UTR variant)	not provided	GBenign

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Items: 31