ATP6V0A2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1197039	NC_000012.12:g.123712055AC[8]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1193378	NC_000012.12:g.123712055AC[6]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1280269	NC_000012.12:g.123712057AC[9]	ATP6V0A2	Microsatellite	not provided	GBenign
Select item 1206994	NC_000012.12:g.123712057AC[7]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1191074	NC_000012.12:g.123712057AC[11]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 669870	NM_012463.3(ATP6V0A2):c.-511T>A	ATP6V0A2	Single nucleotide variant	not provided	GLikely benign
Select item 1249327	NC_000012.12:g.123712057T>A	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 1277865	NC_000012.12:g.123712059T>A	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 1212066	NC_000012.12:g.123712061AC[7]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1194513	NC_000012.12:g.123712061AC[5]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1191205	NC_000012.12:g.123712061AC[6]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1180031	NC_000012.12:g.123712067A>G	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 1219271	NC_000012.12:g.123712077_123712084AC[7]ATACACACAC[1]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1207961	NC_000012.12:g.123712077_123712083AC[3]ATACACACA[1]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1187077	NC_000012.12:g.123712077_123712084AC[5]ATACACACAC[1]	ATP6V0A2	Microsatellite	not provided	GLikely benign
Select item 1199869	NC_000012.12:g.123712122T>C	ATP6V0A2	Single nucleotide variant	not provided	GLikely benign
Select item 669664	NM_012463.3(ATP6V0A2):c.-407A>T	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 669665	NM_012463.3(ATP6V0A2):c.-400G>C	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 676294	NM_012463.3(ATP6V0A2):c.-399A>T	ATP6V0A2	Single nucleotide variant	not provided	GBenign
Select item 1250031	NM_012463.4(ATP6V0A2):c.117+51A>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217128	NM_012463.4(ATP6V0A2):c.117+81G>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677551	NM_012463.4(ATP6V0A2):c.118-73G>A	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2165613	NM_012463.4(ATP6V0A2):c.118-13A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2761230	NM_012463.4(ATP6V0A2):c.118-6del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2032101	NM_012463.4(ATP6V0A2):c.118-9T>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 594101	NM_012463.4(ATP6V0A2):c.118-7_118-3del	ATP6V0A2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2761229	NM_012463.4(ATP6V0A2):c.118-4T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1479815	NM_012463.4(ATP6V0A2):c.118-1G>T	ATP6V0A2	Single nucleotide variant (splice acceptor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 1711946	NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser)	ATP6V0A2 (N43S)	Single nucleotide variant (missense variant)	not provided	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 3057450	NM_012463.4(ATP6V0A2):c.177A>G (p.Glu59=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ATP6V0A2-related disorder	GLikely benign
Select item 845	NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	ATP6V0A2 (R63*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2165089	NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)	ATP6V0A2 (R63Q)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1218839	NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs)	ATP6V0A2 (L65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1957085	NM_012463.4(ATP6V0A2):c.196+8T>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 514198	NM_012463.4(ATP6V0A2):c.196+15T>G	ATP6V0A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1224686	NM_012463.4(ATP6V0A2):c.196+173dup	ATP6V0A2	Duplication (intron variant)	not provided	GBenign
Select item 1225878	NM_012463.4(ATP6V0A2):c.196+235G>A	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201128	NM_012463.4(ATP6V0A2):c.197-283A>G	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193821	NM_012463.4(ATP6V0A2):c.197-263T>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2137546	NM_012463.4(ATP6V0A2):c.197-16A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2742433	NM_012463.4(ATP6V0A2):c.197-14T>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1595355	NM_012463.4(ATP6V0A2):c.197-4A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1968392	NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)	ATP6V0A2 (V69I)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2573812	NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser)	ATP6V0A2 (I77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909918	NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 761095	NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 706498	NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431786	NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val)	ATP6V0A2 (A88V)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 799876	NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 498312	NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 307577	NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1408437	NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile)	ATP6V0A2 (M97I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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
Select item 2970105	NM_012463.4(ATP6V0A2):c.294+16C>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1980370	NM_012463.4(ATP6V0A2):c.294+16C>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2792445	NM_012463.4(ATP6V0A2):c.294+17G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2020633	NM_012463.4(ATP6V0A2):c.294+18A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1183408	NM_012463.4(ATP6V0A2):c.294+103T>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1249838	NM_012463.4(ATP6V0A2):c.294+214C>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230013	NM_012463.4(ATP6V0A2):c.294+217T>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683166	NM_012463.4(ATP6V0A2):c.295-276del	ATP6V0A2	Deletion (intron variant)	not provided	GBenign
Select item 1198966	NM_012463.4(ATP6V0A2):c.295-265G>A	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227635	NM_012463.4(ATP6V0A2):c.295-190G>A	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248711	NM_012463.4(ATP6V0A2):c.295-112dup	ATP6V0A2	Duplication (intron variant)	not provided	GBenign
Select item 1193057	NM_012463.4(ATP6V0A2):c.295-112del	ATP6V0A2	Deletion (intron variant)	not provided	GLikely benign
Select item 508871	NM_012463.4(ATP6V0A2):c.295-17C>A	ATP6V0A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1696304	NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu)	ATP6V0A2 (Q100E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2000140	NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)	ATP6V0A2 (L101*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 197291	NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter)	ATP6V0A2 (Q102*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 307578	NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)	ATP6V0A2 (K103N)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy +4 more	GUncertain significance
Select item 307579	NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3251277	NM_012463.4(ATP6V0A2):c.313G>A (p.Glu105Lys)	ATP6V0A2 (E105K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2988826	NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2415964	NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2806222	NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 21500	NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)	ATP6V0A2 (L118fs)	Deletion (frameshift variant)	Cutis laxa with osteodystrophy	Gnot provided
Select item 2094086	NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)	ATP6V0A2 (E124K)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1944001	NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)	ATP6V0A2 (L125M)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2838924	NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)	ATP6V0A2 (I126fs)	Deletion (frameshift variant)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2421147	NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)	ATP6V0A2 (Y128H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2137448	NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)	ATP6V0A2	Duplication (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 423619	NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)	ATP6V0A2 (H130Y)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2139984	NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)	ATP6V0A2 (K136Q)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1523474	NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala)	ATP6V0A2 (T137A)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1343640	NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile)	ATP6V0A2 (T137I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2695276	NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)	ATP6V0A2 (F138S)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1303408	NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)	ATP6V0A2 (R141H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation +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 1461421	NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)	ATP6V0A2 (V143I)	Inversion (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 95523	NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 3131855	NM_012463.4(ATP6V0A2):c.427G>A (p.Val143Ile)	ATP6V0A2 (V143I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 681546	NM_012463.4(ATP6V0A2):c.432+12C>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 95524	NM_012463.4(ATP6V0A2):c.432+14C>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1298118	NM_012463.4(ATP6V0A2):c.432+230C>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201103	NM_012463.4(ATP6V0A2):c.432+251T>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245614	NM_012463.4(ATP6V0A2):c.433-195C>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678919	NM_012463.4(ATP6V0A2):c.433-170A>G	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292550	NM_012463.4(ATP6V0A2):c.433-117T>C	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195667	NM_012463.4(ATP6V0A2):c.433-60C>T	ATP6V0A2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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