8494[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 2513788	NM_004256.4(SLC22A13):c.38A>T (p.Asp13Val)	SLC22A13 (D13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653669	NM_004256.4(SLC22A13):c.47G>A (p.Arg16His)	SLC22A13 (R16H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2385177	NM_004256.4(SLC22A13):c.148T>G (p.Cys50Gly)	SLC22A13 (C50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163350	NM_004256.4(SLC22A13):c.158C>A (p.Ala53Asp)	SLC22A13 (A53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545645	NM_004256.4(SLC22A13):c.185T>C (p.Leu62Pro)	SLC22A13 (L62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246030	NM_004256.4(SLC22A13):c.328G>C (p.Asp110His)	SLC22A13 (D110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609773	NM_004256.4(SLC22A13):c.398G>A (p.Arg133Gln)	SLC22A13 (R133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163351	NM_004256.4(SLC22A13):c.478G>A (p.Asp160Asn)	SLC22A13 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163352	NM_004256.4(SLC22A13):c.481C>T (p.Arg161Trp)	SLC22A13 (R161W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319069	NM_004256.4(SLC22A13):c.542C>T (p.Ala181Val)	SLC22A13 (A181V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163353	NM_004256.4(SLC22A13):c.604G>A (p.Val202Ile)	SLC22A13 (V202I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319065	NM_004256.4(SLC22A13):c.668C>T (p.Thr223Met)	SLC22A13 (T223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163354	NM_004256.4(SLC22A13):c.730G>A (p.Ala244Thr)	SLC22A13 (A244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371543	NM_004256.4(SLC22A13):c.742C>T (p.Arg248Cys)	SLC22A13 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209811	NM_004256.4(SLC22A13):c.743G>A (p.Arg248His)	SLC22A13 (R248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518422	NM_004256.4(SLC22A13):c.800A>G (p.Tyr267Cys)	SLC22A13 (Y267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240461	NM_004256.4(SLC22A13):c.823G>A (p.Ala275Thr)	LOC112935930, SLC22A13 (A275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403156	NM_004256.4(SLC22A13):c.841C>T (p.Arg281Cys)	LOC112935930, SLC22A13 (R281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163355	NM_004256.4(SLC22A13):c.881C>T (p.Ala294Val)	LOC112935930, SLC22A13 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557649	NM_004256.4(SLC22A13):c.893A>G (p.Asn298Ser)	LOC112935930, SLC22A13 (N298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533738	NM_004256.4(SLC22A13):c.916C>A (p.Leu306Ile)	LOC112935930, SLC22A13 (L306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348151	NM_004256.4(SLC22A13):c.925C>G (p.Gln309Glu)	LOC112935930, SLC22A13 (Q309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319067	NM_004256.4(SLC22A13):c.979C>T (p.His327Tyr)	SLC22A13 (H327Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206308	NM_004256.4(SLC22A13):c.982C>T (p.Pro328Ser)	SLC22A13 (P328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163344	NM_004256.4(SLC22A13):c.1027G>T (p.Val343Leu)	SLC22A13 (V343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163345	NM_004256.4(SLC22A13):c.1074C>T (p.Phe358=)	SLC22A13	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2486515	NM_004256.4(SLC22A13):c.1088A>G (p.Tyr363Cys)	SLC22A13 (Y363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163346	NM_004256.4(SLC22A13):c.1121T>G (p.Val374Gly)	SLC22A13 (V374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235036	NM_004256.4(SLC22A13):c.1174A>G (p.Ser392Gly)	SLC22A13 (S392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163347	NM_004256.4(SLC22A13):c.1216A>G (p.Ile406Val)	SLC22A13 (I406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516342	NM_004256.4(SLC22A13):c.1226T>C (p.Phe409Ser)	SLC22A13 (F409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319068	NM_004256.4(SLC22A13):c.1246G>T (p.Val416Leu)	SLC22A13 (V416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163348	NM_004256.4(SLC22A13):c.1387G>A (p.Gly463Arg)	SLC22A13 (G463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516508	NM_004256.4(SLC22A13):c.1396C>T (p.Leu466Phe)	SLC22A13 (L466F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319066	NM_004256.4(SLC22A13):c.1477G>A (p.Gly493Ser)	SLC22A13 (G493S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258634	NM_004256.4(SLC22A13):c.1508A>G (p.His503Arg)	SLC22A13 (H503R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163349	NM_004256.4(SLC22A13):c.1543G>A (p.Glu515Lys)	SLC22A13 (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265833	NM_004256.4(SLC22A13):c.1570A>G (p.Lys524Glu)	SLC22A13 (K524E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475587	NM_004256.4(SLC22A13):c.1640G>C (p.Ser547Thr)	SLC22A13 (S547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424455	NC_000003.11:g.(?_38180153)_(38618292_?)dup	ACVR2B, EXOG +6 more	Duplication	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
Select item 1527010	GRCh37/hg19 3p22.2(chr3:38109534-38669316)	ACAA1, ACVR2B +8 more	Copy number gain	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +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 980514	GRCh37/hg19 3p22.2(chr3:38302036-38355917)x1	SLC22A14, SLC22A13	Copy number loss	not provided	GLikely benign
Select item 830760	NC_000003.12:g.(?_37452365)_(38950372_?)dup	ACVR2B, CTDSPL +15 more	Duplication	Heterotaxy, visceral, 4, autosomal	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	HHLA2, HIGD1A +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

ClinVar

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Items: 56