"Ambry Genetics"[submitter] AND "ATP6V0A2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425021	NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)	ATP6V0A2, LOC130009117 (T9I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2493288	NM_012463.4(ATP6V0A2):c.170G>C (p.Arg57Thr)	ATP6V0A2 (R57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343640	NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile)	ATP6V0A2 (T137I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 883835	NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)	ATP6V0A2 (P147L)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 2387784	NM_012463.4(ATP6V0A2):c.472G>A (p.Asp158Asn)	ATP6V0A2 (D158N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 661517	NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)	ATP6V0A2 (V249M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 880545	NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)	ATP6V0A2 (G265R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2530754	NM_012463.4(ATP6V0A2):c.803C>G (p.Thr268Ser)	ATP6V0A2 (T268S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188577	NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)	ATP6V0A2 (R269C)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1253742	NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys)	ATP6V0A2 (E293K)	Single nucleotide variant (missense variant)	not provided +2 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 2069270	NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)	ATP6V0A2 (A326S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2539656	NM_012463.4(ATP6V0A2):c.979G>C (p.Glu327Gln)	ATP6V0A2 (E327Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1523006	NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu)	ATP6V0A2 (K374E)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2599303	NM_012463.4(ATP6V0A2):c.1300C>A (p.His434Asn)	ATP6V0A2 (H434N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220306	NM_012463.4(ATP6V0A2):c.1403A>G (p.Tyr468Cys)	ATP6V0A2 (Y468C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 883133	NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)	ATP6V0A2 (N477S)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +3 more	GUncertain significance
Select item 194085	NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile)	ATP6V0A2 (N477I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 166708	NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	ATP6V0A2 (A496T)	Single nucleotide variant (missense variant)	ATP6V0A2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 2391961	NM_012463.4(ATP6V0A2):c.1558A>T (p.Ser520Cys)	ATP6V0A2 (S520C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336084	NM_012463.4(ATP6V0A2):c.1661T>C (p.Met554Thr)	ATP6V0A2 (M554T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 307591	NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val)	ATP6V0A2, LOC126861666 (I597V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1307274	NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu)	ATP6V0A2, LOC126861666 (K608E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2599180	NM_012463.4(ATP6V0A2):c.1981C>G (p.Pro661Ala)	ATP6V0A2 (P661A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1486958	NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His)	ATP6V0A2 (R678H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2142994	NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)	ATP6V0A2 (A817T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270747	NM_012463.4(ATP6V0A2):c.2501G>A (p.Gly834Asp)	ATP6V0A2 (G834D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612266	NM_012463.4(ATP6V0A2):c.2533C>T (p.Leu845Phe)	ATP6V0A2 (L845F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 883191	NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu)	ATP6V0A2 (F849L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31