ClinVar for Gene (Select 285513) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2612487	NM_198281.3(GPRIN3):c.1341G>T (p.Arg447Ser)	GPRIN3 (R447S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589432	NM_198281.3(GPRIN3):c.2005G>T (p.Ala669Ser)	GPRIN3 (A669S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588591	NM_198281.3(GPRIN3):c.1217G>C (p.Arg406Pro)	GPRIN3 (R406P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2571213	GRCh37/hg19 4q22.1(chr4:90168931-90874569)x3	GPRIN3, MMRN1 +1 more	Copy number gain	not provided	GPathogenic
Select item 2547937	NM_198281.3(GPRIN3):c.1367C>A (p.Ala456Glu)	GPRIN3 (A456E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546339	NM_198281.3(GPRIN3):c.1918G>A (p.Glu640Lys)	GPRIN3 (E640K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545129	NM_198281.3(GPRIN3):c.1945G>A (p.Val649Met)	GPRIN3 (V649M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542943	NM_198281.3(GPRIN3):c.1616A>G (p.Lys539Arg)	GPRIN3 (K539R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542776	NM_198281.3(GPRIN3):c.593C>T (p.Thr198Ile)	GPRIN3 (T198I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542183	NM_198281.3(GPRIN3):c.2221T>G (p.Ser741Ala)	GPRIN3 (S741A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528254	NM_198281.3(GPRIN3):c.680T>A (p.Ile227Asn)	GPRIN3 (I227N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524118	NM_198281.3(GPRIN3):c.2185A>G (p.Ser729Gly)	GPRIN3 (S729G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2523144	NM_198281.3(GPRIN3):c.2104G>A (p.Ala702Thr)	GPRIN3 (A702T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516902	NM_198281.3(GPRIN3):c.485C>T (p.Ser162Leu)	GPRIN3 (S162L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511582	NM_198281.3(GPRIN3):c.445T>A (p.Ser149Thr)	GPRIN3 (S149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482913	NM_198281.3(GPRIN3):c.1042C>T (p.Arg348Cys)	GPRIN3 (R348C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470182	NM_198281.3(GPRIN3):c.2038C>T (p.Arg680Cys)	GPRIN3 (R680C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469543	NM_198281.3(GPRIN3):c.854C>T (p.Pro285Leu)	GPRIN3 (P285L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460108	NM_198281.3(GPRIN3):c.2195G>A (p.Arg732Gln)	GPRIN3 (R732Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454545	NM_198281.3(GPRIN3):c.1450G>A (p.Gly484Arg)	GPRIN3 (G484R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410147	NM_198281.3(GPRIN3):c.2107G>A (p.Glu703Lys)	GPRIN3 (E703K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402685	NM_198281.3(GPRIN3):c.2287C>T (p.Pro763Ser)	GPRIN3 (P763S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382815	NM_198281.3(GPRIN3):c.2005G>A (p.Ala669Thr)	GPRIN3 (A669T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379254	NM_198281.3(GPRIN3):c.1285A>G (p.Asn429Asp)	GPRIN3 (N429D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375449	NM_198281.3(GPRIN3):c.820C>A (p.Pro274Thr)	GPRIN3 (P274T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374335	NM_198281.3(GPRIN3):c.316A>G (p.Ser106Gly)	GPRIN3 (S106G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368113	NM_198281.3(GPRIN3):c.1092C>A (p.Ser364Arg)	GPRIN3 (S364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356895	NM_198281.3(GPRIN3):c.2299G>A (p.Val767Ile)	GPRIN3 (V767I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350608	NM_198281.3(GPRIN3):c.1838G>A (p.Gly613Asp)	GPRIN3 (G613D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306745	NM_198281.3(GPRIN3):c.2104G>C (p.Ala702Pro)	GPRIN3 (A702P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2287171	NM_198281.3(GPRIN3):c.1600G>A (p.Asp534Asn)	GPRIN3 (D534N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275203	NM_198281.3(GPRIN3):c.1294C>A (p.His432Asn)	GPRIN3 (H432N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241192	NM_198281.3(GPRIN3):c.1615A>C (p.Lys539Gln)	GPRIN3 (K539Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235679	NM_198281.3(GPRIN3):c.202G>A (p.Val68Ile)	GPRIN3 (V68I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225999	NM_198281.3(GPRIN3):c.893C>G (p.Ala298Gly)	GPRIN3 (A298G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 814582	GRCh37/hg19 4q22.1(chr4:89790888-90586088)x1	GPRIN3, TIGD2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 790004	NM_198281.3(GPRIN3):c.1025C>A (p.Ala342Glu)	GPRIN3 (A342E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688079	GRCh37/hg19 4q22.1(chr4:90013931-90644508)x1	GPRIN3, TIGD2	Copy number loss	not provided	GUncertain significance
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 562945	GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1	CCSER1, UNC5C +11 more	Copy number loss	not provided	GPathogenic
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 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic
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
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 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 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 145948	GRCh38/hg38 4q22.1(chr4:89262856-89537501)x3	GPRIN3, LOC129992832 +1 more	Copy number gain	See cases	GLikely benign
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 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic

ClinVar

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Links from Gene

Items: 65