133482[Gene ID] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	EPB41L4A-AS1, EPB41L4A-DT +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +342 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 148519	GRCh38/hg38 5q21.1(chr5:102153447-102656400)x1	LINC00491, LINC00492 +6 more	Copy number loss	See cases	GLikely benign
Select item 151629	GRCh38/hg38 5q21.1(chr5:102304556-102388761)x3	SLCO6A1	Copy number gain	See cases	GLikely benign
Select item 145869	GRCh38/hg38 5q21.1(chr5:102362102-102458385)x3	LOC129994297, SLCO6A1	Copy number gain	See cases	GLikely benign
Select item 721376	NM_173488.5(SLCO6A1):c.2142A>G (p.Lys714=)	SLCO6A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713079	NM_173488.5(SLCO6A1):c.2128A>G (p.Lys710Glu)	SLCO6A1 (K648E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	LOC126807477, LOC126807478 +180 more	Copy number loss	See cases	GPathogenic
Select item 2241618	NM_173488.5(SLCO6A1):c.2080C>T (p.Arg694Cys)	SLCO6A1 (R694C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655625	NM_173488.5(SLCO6A1):c.1950A>G (p.Lys650=)	SLCO6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 151671	GRCh38/hg38 5q21.1(chr5:102388761-102501808)x3	LOC129994297, SLCO6A1	Copy number gain	See cases	GLikely benign
Select item 2233895	NM_173488.5(SLCO6A1):c.1922C>G (p.Thr641Ser)	SLCO6A1 (T641S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 715454	NM_173488.5(SLCO6A1):c.1700G>C (p.Arg567Thr)	SLCO6A1 (R505T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2620306	NM_173488.5(SLCO6A1):c.1592G>C (p.Gly531Ala)	SLCO6A1 (G278A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409051	NM_173488.5(SLCO6A1):c.1417A>G (p.Ile473Val)	SLCO6A1 (I473V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609565	NM_173488.5(SLCO6A1):c.1222A>G (p.Ile408Val)	SLCO6A1 (I408V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 147612	GRCh38/hg38 5q21.1(chr5:102458385-102498538)x1	SLCO6A1	Copy number loss	See cases	GBenign
Select item 2377120	NM_173488.5(SLCO6A1):c.1123G>C (p.Ala375Pro)	SLCO6A1 (A313P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372512	NM_173488.5(SLCO6A1):c.1120G>A (p.Ala374Thr)	SLCO6A1 (A312T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316008	NM_173488.5(SLCO6A1):c.1110G>T (p.Lys370Asn)	SLCO6A1 (K308N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777976	NM_173488.5(SLCO6A1):c.1050T>C (p.Arg350=)	SLCO6A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2383895	NM_173488.5(SLCO6A1):c.1048C>T (p.Arg350Cys)	SLCO6A1 (R288C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462621	NM_173488.5(SLCO6A1):c.1031G>A (p.Arg344Gln)	SLCO6A1 (R282Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264003	NM_173488.5(SLCO6A1):c.1030C>T (p.Arg344Trp)	SLCO6A1 (R344W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268266	NM_173488.5(SLCO6A1):c.1012A>G (p.Asn338Asp)	SLCO6A1 (N276D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790450	NM_173488.5(SLCO6A1):c.975A>G (p.Ala325=)	SLCO6A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2336357	NM_173488.5(SLCO6A1):c.973G>T (p.Ala325Ser)	SLCO6A1 (A263S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298084	NM_173488.5(SLCO6A1):c.863T>A (p.Leu288Gln)	SLCO6A1 (L288Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769301	NM_173488.5(SLCO6A1):c.609A>G (p.Gly203=)	SLCO6A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2255171	NM_173488.5(SLCO6A1):c.535T>C (p.Phe179Leu)	SLCO6A1 (F179L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478482	NM_173488.5(SLCO6A1):c.478A>G (p.Ile160Val)	SLCO6A1 (I160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2459233	NM_173488.5(SLCO6A1):c.425T>A (p.Ile142Asn)	SLCO6A1 (I142N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299297	NM_173488.5(SLCO6A1):c.389T>C (p.Ile130Thr)	SLCO6A1 (I130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474605	NM_173488.5(SLCO6A1):c.107A>G (p.Lys36Arg)	SLCO6A1 (K36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2493968	NM_173488.5(SLCO6A1):c.7G>A (p.Val3Ile)	SLCO6A1 (V3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1808043	GRCh37/hg19 5q21.1(chr5:101475627-102004849)x1	SLCO4C1, SLCO6A1	Copy number loss	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 980169	GRCh37/hg19 5q21.1(chr5:101615870-101775954)x1	SLCO6A1, SLCO4C1	Copy number loss	not provided	GUncertain significance
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814719	GRCh37/hg19 5q21.1(chr5:101766705-101865789)x1	SLCO6A1	Copy number loss	not provided	GLikely benign
Select item 814718	GRCh37/hg19 5q21.1(chr5:101620402-102584810)x3	SLCO4C1, SLCO6A1 +3 more	Copy number gain	not provided	GLikely benign
Select item 814717	GRCh37/hg19 5q21.1-21.2(chr5:101152187-103638623)x3	SLCO4C1, NUDT12 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563096	GRCh37/hg19 5q21.1(chr5:101821498-101961032)x1	SLCO6A1	Copy number loss	not provided	GUncertain significance
Select item 563095	GRCh37/hg19 5q21.1(chr5:101475626-102004849)x3	SLCO4C1, SLCO6A1	Copy number gain	not provided	GUncertain significance
Select item 563094	GRCh37/hg19 5q21.1(chr5:101345717-101709433)x1	SLCO4C1, SLCO6A1	Copy number loss	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442787	GRCh37/hg19 5q21.1(chr5:101475626-102004849)x1	SLCO4C1, SLCO6A1	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441955	GRCh37/hg19 5q21.1-21.2(chr5:98845559-103355831)x1	FAM174A, GIN1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 64