VILL[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	LOC129936460, LOC129936461 +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	ACAA1, ACVR2B +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 2230677	NM_015873.4(VILL):c.112G>A (p.Glu38Lys)	LOC112935929, VILL (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333137	NM_015873.4(VILL):c.122A>G (p.Tyr41Cys)	LOC112935929, VILL (Y41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261647	NM_015873.4(VILL):c.170C>T (p.Ser57Phe)	VILL (S57F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2347243	NM_015873.4(VILL):c.221G>A (p.Gly74Asp)	VILL (G74D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3188551	NM_015873.4(VILL):c.244C>T (p.Arg82Cys)	VILL (R82C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2252284	NM_015873.4(VILL):c.251A>C (p.Gln84Pro)	VILL (Q84P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2554630	NM_015873.4(VILL):c.265G>C (p.Gly89Arg)	VILL (G89R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2614706	NM_015873.4(VILL):c.301G>A (p.Glu101Lys)	VILL (E101K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2305076	NM_015873.4(VILL):c.305C>A (p.Ser102Tyr)	VILL (S102Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2351199	NM_015873.4(VILL):c.334G>A (p.Gly112Arg)	VILL (G112R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3025282	NM_015873.4(VILL):c.354A>T (p.Gly118=)	VILL	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2254560	NM_015873.4(VILL):c.367G>A (p.Asp123Asn)	VILL (D123N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2458320	NM_015873.4(VILL):c.377A>T (p.His126Leu)	VILL (H126L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2215313	NM_015873.4(VILL):c.415C>T (p.His139Tyr)	VILL (H139Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2382920	NM_015873.4(VILL):c.451G>A (p.Val151Met)	VILL (V151M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2552399	NM_015873.4(VILL):c.532C>A (p.Pro178Thr)	VILL (P178T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507600	NM_015873.4(VILL):c.587G>A (p.Arg196Gln)	VILL (R196Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3188552	NM_015873.4(VILL):c.595G>A (p.Glu199Lys)	VILL (E199K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188553	NM_015873.4(VILL):c.598C>T (p.Arg200Cys)	VILL (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188554	NM_015873.4(VILL):c.599G>A (p.Arg200His)	VILL (R30H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373092	NM_015873.4(VILL):c.647C>T (p.Ala216Val)	VILL (A46V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514749	NM_015873.4(VILL):c.654C>A (p.Asp218Glu)	VILL (D48E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188555	NM_015873.4(VILL):c.686G>A (p.Arg229His)	VILL (R229H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188556	NM_015873.4(VILL):c.691G>T (p.Val231Leu)	VILL (V231L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188557	NM_015873.4(VILL):c.716C>T (p.Pro239Leu)	VILL (P69L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231625	NM_015873.4(VILL):c.788T>G (p.Leu263Arg)	VILL (L263R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397893	NM_015873.4(VILL):c.895C>T (p.Arg299Cys)	VILL (R129C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226988	NM_015873.4(VILL):c.896G>A (p.Arg299His)	VILL (R129H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321823	NM_015873.4(VILL):c.956C>A (p.Ala319Asp)	VILL (A149D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338214	NM_015873.4(VILL):c.1000G>A (p.Gly334Ser)	VILL (G131S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350882	NM_015873.4(VILL):c.1062C>A (p.Asn354Lys)	VILL (N184K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033400	NM_015873.4(VILL):c.1164del (p.Asp388fs)	VILL (D185fs +2 more)	Deletion (frameshift variant +1 more)	VILL-related condition	GLikely benign
Select item 3188545	NM_015873.4(VILL):c.1168T>C (p.Ser390Pro)	VILL (S220P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517865	NM_015873.4(VILL):c.1174A>G (p.Lys392Glu)	VILL (K189E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282203	NM_015873.4(VILL):c.1181A>C (p.Glu394Ala)	VILL (E224A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383009	NM_015873.4(VILL):c.1231C>T (p.His411Tyr)	VILL (H208Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188546	NM_015873.4(VILL):c.1292G>A (p.Arg431His)	VILL (R228H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188547	NM_015873.4(VILL):c.1334C>T (p.Thr445Ile)	VILL (T275I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216590	NM_015873.4(VILL):c.1359C>G (p.Asn453Lys)	VILL (N283K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216038	NM_015873.4(VILL):c.1438C>A (p.His480Asn)	VILL (H480N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240299	NM_015873.4(VILL):c.1447G>C (p.Ala483Pro)	VILL (A280P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225149	NM_015873.4(VILL):c.1585C>T (p.Arg529Cys)	VILL (R359C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242314	NM_015873.4(VILL):c.1606A>G (p.Ser536Gly)	VILL (S333G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262089	NM_015873.4(VILL):c.1633A>G (p.Ser545Gly)	VILL (S342G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2533533	NM_015873.4(VILL):c.1679G>A (p.Arg560His)	VILL (R390H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324441	NM_015873.4(VILL):c.1690C>T (p.Arg564Trp)	VILL (R564W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188548	NM_015873.4(VILL):c.1691G>A (p.Arg564Gln)	VILL (R564Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188549	NM_015873.4(VILL):c.1822C>T (p.Pro608Ser)	VILL (P608S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2606798	NM_015873.4(VILL):c.1897A>G (p.Ser633Gly)	VILL (S430G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476072	NM_015873.4(VILL):c.1954T>C (p.Phe652Leu)	VILL (F652L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306352	NM_015873.4(VILL):c.2048C>T (p.Ala683Val)	VILL (A683V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479531	NM_015873.4(VILL):c.2054C>T (p.Pro685Leu)	VILL (P482L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516646	NM_015873.4(VILL):c.2059G>A (p.Val687Met)	VILL (V517M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518338	NM_015873.4(VILL):c.2062C>G (p.Leu688Val)	VILL (L518V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397392	NM_015873.4(VILL):c.2116G>A (p.Asp706Asn)	VILL (D706N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055909	NM_015873.4(VILL):c.2125_2126dup (p.Trp710fs)	VILL (W507fs +2 more)	Duplication (frameshift variant +1 more)	VILL-related condition	GLikely benign
Select item 3188550	NM_015873.4(VILL):c.2213A>G (p.Asn738Ser)	VILL (N738S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216233	NM_015873.4(VILL):c.2222G>A (p.Arg741Gln)	VILL (R538Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2396796	NM_015873.4(VILL):c.2237C>T (p.Pro746Leu)	VILL (P543L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275503	NM_015873.4(VILL):c.2353G>A (p.Val785Ile)	VILL (V615I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622144	NM_015873.4(VILL):c.2363C>T (p.Thr788Ile)	VILL (T618I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616972	NM_015873.4(VILL):c.2372C>T (p.Thr791Met)	VILL (T621M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372634	NM_015873.4(VILL):c.2380G>A (p.Gly794Arg)	VILL (G794R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355152	NM_015873.4(VILL):c.2392C>T (p.Arg798Trp)	VILL (R595W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789980	NM_015873.4(VILL):c.2506G>A (p.Glu836Lys)	VILL (E666K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2685914	GRCh37/hg19 3p22.2(chr3:37338764-38109534)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527008	GRCh37/hg19 3p22.2(chr3:37347773-38109534)	APRG1, CTDSPL +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 830760	NC_000003.12:g.(?_37452365)_(38950372_?)dup	DLEC1, EXOG +15 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 814435	GRCh37/hg19 3p22.2(chr3:37987092-38194369)x3	MIR26A1, DLEC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688578	GRCh37/hg19 3p22.2(chr3:37347149-38120470)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance
Select item 562765	GRCh37/hg19 3p22.2(chr3:38021661-38510752)x3	CTDSPL, PLCD1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 503576	GRCh37/hg19 3p22.2(chr3:37891706-38877793)x3	VILL, XYLB +13 more	Copy number gain	See cases	GUncertain significance
Select item 463218	NC_000003.11:g.(?_37493846)_(38991873_?)del	ACAA1, ACVR2B +15 more	Deletion	Brugada syndrome	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 83