ClinVar for Gene (Select 23545) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369857	NM_012463.4(ATP6V0A2):c.724T>G (p.Cys242Gly)	ATP6V0A2 (C242G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369576	NM_012463.4(ATP6V0A2):c.1562T>C (p.Ile521Thr)	ATP6V0A2 (I521T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364825	NM_012463.4(ATP6V0A2):c.1116C>G (p.Thr372=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3361525	NM_012463.4(ATP6V0A2):c.466G>C (p.Glu156Gln)	ATP6V0A2 (E156Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359878	NM_012463.4(ATP6V0A2):c.1627C>T (p.Arg543Cys)	ATP6V0A2 (R543C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348648	NM_012463.4(ATP6V0A2):c.1805T>C (p.Ile602Thr)	ATP6V0A2, LOC126861666 (I602T)	Single nucleotide variant (missense variant)	ATP6V0A2-related disorder	GUncertain significance
Select item 3348590	NM_012463.4(ATP6V0A2):c.2136C>G (p.His712Gln)	ATP6V0A2 (H712Q)	Single nucleotide variant (missense variant)	ATP6V0A2-related disorder	GUncertain significance
Select item 3339571	NM_012463.4(ATP6V0A2):c.1529G>T (p.Arg510Ile)	ATP6V0A2 (R510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337835	NM_012463.4(ATP6V0A2):c.1A>T (p.Met1Leu)	ATP6V0A2, LOC130009117 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3329459	NM_012463.4(ATP6V0A2):c.874G>A (p.Ala292Thr)	ATP6V0A2 (A292T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329458	NM_012463.4(ATP6V0A2):c.654A>C (p.Glu218Asp)	ATP6V0A2 (E218D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329445	NM_012463.4(ATP6V0A2):c.1650C>G (p.Phe550Leu)	ATP6V0A2 (F550L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256749	NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg)	ATP6V0A2 (W537R)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy	GLikely pathogenic
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 3244266	NC_000012.11:g.(?_124171363)_(124242579_?)del	ATP6V0A2, TCTN2	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	ABCB9, ACADS +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3233618	NM_012463.4(ATP6V0A2):c.1886A>C (p.Asn629Thr)	LOC126861666, ATP6V0A2 (N629T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131856	NM_012463.4(ATP6V0A2):c.598A>G (p.Thr200Ala)	ATP6V0A2 (T200A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3131853	NM_012463.4(ATP6V0A2):c.2359G>A (p.Val787Ile)	ATP6V0A2 (V787I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131852	NM_012463.4(ATP6V0A2):c.1705C>G (p.Leu569Val)	ATP6V0A2 (L569V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131851	NM_012463.4(ATP6V0A2):c.1672T>G (p.Leu558Val)	ATP6V0A2 (L558V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063256	GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1	ATP6V0A2, CDK2AP1 +13 more	Copy number loss	not specified	GUncertain significance
Select item 3061618	NM_012463.4(ATP6V0A2):c.1281G>A (p.Leu427=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ATP6V0A2-related disorder	GLikely benign
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 3053602	NM_012463.4(ATP6V0A2):c.2388C>T (p.Leu796=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ATP6V0A2-related disorder	GLikely benign
Select item 3044062	NM_012463.4(ATP6V0A2):c.1431C>G (p.Asn477Lys)	ATP6V0A2 (N477K)	Single nucleotide variant (missense variant)	ATP6V0A2-related disorder	GUncertain significance
Select item 3031167	NM_012463.4(ATP6V0A2):c.2466-4_2466-3dup	ATP6V0A2	Duplication (intron variant)	ATP6V0A2-related disorder	GLikely benign
Select item 3030254	NM_012463.4(ATP6V0A2):c.1764C>T (p.Ile588=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ATP6V0A2-related disorder	GLikely benign
Select item 3030090	NM_012463.4(ATP6V0A2):c.1986C>G (p.Val662=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ATP6V0A2-related disorder	GLikely benign
Select item 3020167	NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3016621	NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3014577	NM_012463.4(ATP6V0A2):c.731+16A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3009969	NM_012463.4(ATP6V0A2):c.117+20C>G	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3004981	NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)	ATP6V0A2 (E293*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2994599	NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)	ATP6V0A2 (S520G)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2991081	NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)	ATP6V0A2 (D768fs)	Deletion (frameshift variant)	ALG9 congenital disorder of glycosylation	GPathogenic
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 2985026	NM_012463.4(ATP6V0A2):c.2465+20T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2984348	NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2983282	NM_012463.4(ATP6V0A2):c.1725-9C>T	ATP6V0A2, LOC126861666	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2973119	NM_012463.4(ATP6V0A2):c.117+19A>G	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
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 2920131	NM_012463.4(ATP6V0A2):c.2466-3del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2918761	NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2916784	NM_012463.4(ATP6V0A2):c.731+12A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2916064	NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2913216	NM_012463.4(ATP6V0A2):c.2055+9G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2912514	NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2911105	NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)	ATP6V0A2 (R340Q)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2910670	NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)	ATP6V0A2 (S752F)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	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 2909003	NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2906281	NM_012463.4(ATP6V0A2):c.1515-7_1515-5del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2903855	NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2902306	NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2899307	NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2896520	NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2890919	NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2885556	NM_012463.4(ATP6V0A2):c.2466-16C>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2883184	NM_012463.4(ATP6V0A2):c.2056-2A>G	ATP6V0A2	Single nucleotide variant (splice acceptor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2882130	NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs)	ATP6V0A2 (S349fs)	Deletion (frameshift variant)	Cutis laxa with osteodystrophy	GLikely pathogenic
Select item 2877447	NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2872401	NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)	ATP6V0A2 (T464S)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2868537	NM_012463.4(ATP6V0A2):c.826-18C>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2857018	NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2855875	NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2848963	NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2843216	NM_012463.4(ATP6V0A2):c.117+10G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2842557	NM_012463.4(ATP6V0A2):c.649-15A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2840813	NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)	ATP6V0A2 (L665*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
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 2829656	NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)	ATP6V0A2	Deletion (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2825579	NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2813479	NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)	ATP6V0A2 (P535fs)	Deletion (frameshift variant)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2813439	NM_012463.4(ATP6V0A2):c.1724+11A>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2812484	NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2808753	NM_012463.4(ATP6V0A2):c.433-5T>C	ATP6V0A2	Single nucleotide variant (intron 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 2802601	NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous 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 2789345	NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)	ATP6V0A2 (W222*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2788189	NM_012463.4(ATP6V0A2):c.1039-15T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2785704	NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2783344	NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2781620	NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2776451	NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2771788	NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)	ATP6V0A2, LOC126861666 (F633L)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2771040	NM_012463.4(ATP6V0A2):c.1515-9T>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2761550	NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)	ATP6V0A2 (N431D)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2761230	NM_012463.4(ATP6V0A2):c.118-6del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
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 2746655	NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
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 2740713	NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)	ATP6V0A2 (A397P)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2735988	NM_012463.4(ATP6V0A2):c.117+1del	ATP6V0A2, LOC130009117	Deletion (splice donor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2732697	NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2729125	NM_012463.4(ATP6V0A2):c.1605+10C>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2725458	NM_012463.4(ATP6V0A2):c.1724+20dup	ATP6V0A2	Duplication (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2723697	NM_012463.4(ATP6V0A2):c.117+7G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign

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