SLCO4C1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 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 727471	NM_180991.5(SLCO4C1):c.2173T>C (p.Ter725Arg)	SLCO4C1	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 3320395	NM_180991.5(SLCO4C1):c.2160A>G (p.Ile720Met)	SLCO4C1 (I720M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314935	NM_180991.5(SLCO4C1):c.2134T>G (p.Leu712Val)	SLCO4C1 (L712V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165868	NM_180991.5(SLCO4C1):c.2084C>T (p.Ser695Leu)	SLCO4C1 (S695L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165867	NM_180991.5(SLCO4C1):c.2030T>C (p.Val677Ala)	SLCO4C1 (V677A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273472	NM_180991.5(SLCO4C1):c.2018T>C (p.Val673Ala)	SLCO4C1 (V673A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320388	NM_180991.5(SLCO4C1):c.1993G>A (p.Ala665Thr)	SLCO4C1 (A665T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251400	NM_180991.5(SLCO4C1):c.1984A>T (p.Ile662Phe)	SLCO4C1 (I662F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320397	NM_180991.5(SLCO4C1):c.1976A>C (p.Tyr659Ser)	SLCO4C1 (Y659S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320392	NM_180991.5(SLCO4C1):c.1898T>C (p.Ile633Thr)	SLCO4C1 (I633T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409776	NM_180991.5(SLCO4C1):c.1724C>T (p.Ala575Val)	SLCO4C1 (A575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320387	NM_180991.5(SLCO4C1):c.1654A>C (p.Thr552Pro)	SLCO4C1 (T552P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289644	NM_180991.5(SLCO4C1):c.1531T>C (p.Tyr511His)	SLCO4C1 (Y511H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320389	NM_180991.5(SLCO4C1):c.1523C>T (p.Ser508Leu)	SLCO4C1 (S508L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320390	NM_180991.5(SLCO4C1):c.1514G>T (p.Cys505Phe)	SLCO4C1 (C505F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406573	NM_180991.5(SLCO4C1):c.1510A>G (p.Asn504Asp)	SLCO4C1 (N504D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165866	NM_180991.5(SLCO4C1):c.1496C>A (p.Ala499Asp)	SLCO4C1 (A499D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165865	NM_180991.5(SLCO4C1):c.1459T>C (p.Ser487Pro)	SLCO4C1 (S487P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320393	NM_180991.5(SLCO4C1):c.1406T>G (p.Phe469Cys)	SLCO4C1 (F469C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320394	NM_180991.5(SLCO4C1):c.1358C>G (p.Thr453Arg)	SLCO4C1 (T453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484273	NM_180991.5(SLCO4C1):c.1340G>T (p.Arg447Ile)	SLCO4C1 (R447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165864	NM_180991.5(SLCO4C1):c.1171A>G (p.Thr391Ala)	SLCO4C1 (T391A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165863	NM_180991.5(SLCO4C1):c.1168T>C (p.Ser390Pro)	SLCO4C1 (S390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315229	NM_180991.5(SLCO4C1):c.1067G>A (p.Ser356Asn)	SLCO4C1 (S356N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 792005	NM_180991.5(SLCO4C1):c.1032A>T (p.Glu344Asp)	SLCO4C1 (E344D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2225455	NM_180991.5(SLCO4C1):c.1022G>C (p.Gly341Ala)	SLCO4C1 (G341A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777595	NM_180991.5(SLCO4C1):c.1022-15_1022-10del	SLCO4C1	Deletion (intron variant)	not provided	GLikely benign
Select item 2776130	NM_180991.5(SLCO4C1):c.1022-27AT[7]	SLCO4C1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2401296	NM_180991.5(SLCO4C1):c.889A>G (p.Met297Val)	SLCO4C1 (M297V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165870	NM_180991.5(SLCO4C1):c.886G>C (p.Ala296Pro)	SLCO4C1 (A296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460780	NM_180991.5(SLCO4C1):c.796T>G (p.Tyr266Asp)	SLCO4C1 (Y266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548482	NM_180991.5(SLCO4C1):c.749G>C (p.Gly250Ala)	SLCO4C1 (G250A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165869	NM_180991.5(SLCO4C1):c.746T>A (p.Leu249Gln)	SLCO4C1 (L249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320396	NM_180991.5(SLCO4C1):c.643A>T (p.Ser215Cys)	SLCO4C1 (S215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411680	NM_180991.5(SLCO4C1):c.539T>C (p.Phe180Ser)	SLCO4C1 (F180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329705	NM_180991.5(SLCO4C1):c.316G>A (p.Gly106Ser)	SLCO4C1 (G106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211589	NM_180991.5(SLCO4C1):c.115C>A (p.Pro39Thr)	LOC129994296, SLCO4C1 (P39T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323181	NM_180991.5(SLCO4C1):c.56T>G (p.Ile19Ser)	LOC129994296, SLCO4C1 (I19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278540	NM_180991.5(SLCO4C1):c.50C>T (p.Pro17Leu)	LOC129994296, SLCO4C1 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	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 1527184	GRCh37/hg19 5q21.1(chr5:101281754-101680657)	SLCO4C1	Copy number loss	not specified	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 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 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	ARB2A, CHD1 +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	DHFR, DHX29 +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)	ABLIM3, ACOT12 +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: 71