SPARCL1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 147434	GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1	AFF1, AFF1-AS1 +62 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2474888	NM_004684.6(SPARCL1):c.1696A>G (p.Arg566Gly)	SPARCL1 (R441G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297824	NM_004684.6(SPARCL1):c.1627T>A (p.Ser543Thr)	SPARCL1 (S418T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553624	NM_004684.6(SPARCL1):c.1534A>G (p.Ile512Val)	SPARCL1 (I387V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486567	NM_004684.6(SPARCL1):c.1469G>A (p.Cys490Tyr)	SPARCL1 (C365Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218214	NM_004684.6(SPARCL1):c.1462A>T (p.Thr488Ser)	SPARCL1 (T363S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555874	NM_004684.6(SPARCL1):c.1453C>A (p.Leu485Ile)	SPARCL1 (L360I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279457	NM_004684.6(SPARCL1):c.1427A>G (p.Asn476Ser)	SPARCL1 (N351S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458319	NM_004684.6(SPARCL1):c.1205G>C (p.Gly402Ala)	SPARCL1 (G277A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507730	NM_004684.6(SPARCL1):c.1198G>C (p.Glu400Gln)	SPARCL1 (E275Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547156	NM_004684.6(SPARCL1):c.1130T>C (p.Ile377Thr)	SPARCL1 (I252T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494466	NM_004684.6(SPARCL1):c.1052A>C (p.Asp351Ala)	SPARCL1 (D226A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328646	NM_004684.6(SPARCL1):c.1045G>A (p.Gly349Ser)	SPARCL1 (G224S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636267	NM_004684.6(SPARCL1):c.1025ATG[2] (p.Asp344del)	SPARCL1 (D219del +1 more)	Microsatellite (inframe_deletion)	SPARCL1-related condition	GUncertain significance
Select item 2349939	NM_004684.6(SPARCL1):c.982G>A (p.Gly328Ser)	SPARCL1 (G328S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635203	NM_004684.6(SPARCL1):c.971C>T (p.Pro324Leu)	SPARCL1 (P199L +1 more)	Single nucleotide variant (missense variant)	SPARCL1-related condition	GUncertain significance
Select item 2304071	NM_004684.6(SPARCL1):c.917G>C (p.Ser306Thr)	SPARCL1 (S181T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304070	NM_004684.6(SPARCL1):c.891G>T (p.Glu297Asp)	SPARCL1 (E172D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363844	NM_004684.6(SPARCL1):c.850G>A (p.Val284Ile)	SPARCL1 (V284I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2632831	NM_004684.6(SPARCL1):c.625G>T (p.Gly209Cys)	SPARCL1 (G209C +1 more)	Single nucleotide variant (missense variant)	SPARCL1-related condition	GUncertain significance
Select item 2347031	NM_004684.6(SPARCL1):c.536G>C (p.Ser179Thr)	SPARCL1 (S54T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367174	NM_004684.6(SPARCL1):c.515A>G (p.His172Arg)	SPARCL1 (H172R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458869	NM_004684.6(SPARCL1):c.481G>A (p.Glu161Lys)	SPARCL1 (E36K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240055	NM_004684.6(SPARCL1):c.325G>A (p.Val109Met)	SPARCL1 (V109M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267283	NM_004684.6(SPARCL1):c.295G>A (p.Asp99Asn)	SPARCL1 (D99N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2498966	GRCh37/hg19 4q22.1(chr4:88344058-89061168)x1	ABCG2, DMP1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340508	GRCh37/hg19 4q22.1(chr4:88063686-88517522)x3	HSD17B11, HSD17B13 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 562943	GRCh37/hg19 4q22.1(chr4:88397372-88453911)x1	SPARCL1	Copy number loss	not provided	GUncertain significance
Select item 562942	GRCh37/hg19 4q21.3-22.1(chr4:87984263-89193590)x3	AFF1, PPM1K +12 more	Copy number gain	not provided	GUncertain significance
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 53