ABCG2[gene] - ClinVar

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Items: 69

	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	LOC129992695, LOC129992696 +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 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 1251382	NC_000004.12:g.88089831A>G	ABCG2	Single nucleotide variant	not provided	GBenign
Select item 3129639	NM_004827.3(ABCG2):c.1961A>G (p.Tyr654Cys)	ABCG2 (Y654C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3129633	NM_004827.3(ABCG2):c.1948T>C (p.Phe650Leu)	ABCG2 (F648L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224669	NM_004827.3(ABCG2):c.1891G>A (p.Val631Met)	ABCG2 (V629M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2310874	NM_004827.3(ABCG2):c.1777C>T (p.Pro593Ser)	ABCG2 (P591S +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3041649	NM_004827.3(ABCG2):c.1582G>A (p.Ala528Thr)	ABCG2 (A526T +1 more)	Single nucleotide variant (missense variant)	ABCG2-related disorder	GLikely benign
Select item 3129624	NM_004827.3(ABCG2):c.1567A>T (p.Met523Leu)	ABCG2 (M521L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337768	NM_004827.3(ABCG2):c.1541T>C (p.Met514Thr)	ABCG2 (M514T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129615	NM_004827.3(ABCG2):c.1535C>G (p.Thr512Ser)	ABCG2 (T512S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129609	NM_004827.3(ABCG2):c.1453C>A (p.Pro485Thr)	ABCG2 (P483T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531314	NM_004827.3(ABCG2):c.1310A>G (p.Gln437Arg)	ABCG2 (Q437R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239257	NM_004827.3(ABCG2):c.1277+2227G>A	ABCG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267736	NM_004827.3(ABCG2):c.1277+1908T>G	ABCG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2319477	NM_004827.3(ABCG2):c.1255G>T (p.Asp419Tyr)	ABCG2 (D417Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129600	NM_004827.3(ABCG2):c.1195A>T (p.Ile399Phe)	ABCG2 (I397F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265403	NM_004827.3(ABCG2):c.1195-834T>G	ABCG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2467211	NM_004827.3(ABCG2):c.1178A>G (p.Gln393Arg)	ABCG2 (Q391R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267114	NM_004827.3(ABCG2):c.1135T>C (p.Trp379Arg)	ABCG2 (W377R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30384	NM_004827.3(ABCG2):c.1111_1112del (p.Thr371fs)	ABCG2 (T369fs +1 more)	Deletion (frameshift variant)	Blood group, Junior system	GAffects
Select item 3044880	NM_004827.3(ABCG2):c.1060G>A (p.Gly354Arg)	ABCG2 (G352R +1 more)	Single nucleotide variant (missense variant)	ABCG2-related disorder	GLikely benign
Select item 3129659	NM_004827.3(ABCG2):c.972G>T (p.Gln324His)	ABCG2 (Q324H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475371	NM_004827.3(ABCG2):c.904T>C (p.Ser302Pro)	ABCG2 (S302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316403	NM_004827.3(ABCG2):c.869C>G (p.Pro290Arg)	ABCG2 (P290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129652	NM_004827.3(ABCG2):c.867C>A (p.Asn289Lys)	ABCG2 (N289K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057392	NM_004827.3(ABCG2):c.841+3A>G	ABCG2	Single nucleotide variant (intron variant)	ABCG2-related disorder	GLikely benign
Select item 981814	NM_004827.3(ABCG2):c.802G>A (p.Gly268Arg)	ABCG2 (G268R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 30388	NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)	ABCG2 (L264fs)	Deletion (frameshift variant)	Uric acid concentration, serum, quantitative trait locus 1 +2 more	GConflicting classifications of pathogenicity
Select item 2395034	NM_004827.3(ABCG2):c.791T>G (p.Leu264Arg)	ABCG2 (L264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129645	NM_004827.3(ABCG2):c.765C>A (p.Ser255Arg)	ABCG2 (S255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30383	NM_004827.3(ABCG2):c.736C>T (p.Arg246Ter)	ABCG2 (R246*)	Single nucleotide variant (nonsense)	Blood group, Junior system	GAffects
Select item 30387	NM_004827.3(ABCG2):c.706C>T (p.Arg236Ter)	ABCG2 (R236*)	Single nucleotide variant (nonsense)	Blood group, Junior system	Gassociation
Select item 3129641	NM_004827.3(ABCG2):c.449C>G (p.Thr150Arg)	ABCG2 (T150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30389	NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)	ABCG2 (Q141K)	Single nucleotide variant (missense variant)	rosuvastatin response - Efficacy +1 more	Gdrug response
Select item 522888	NM_004827.3(ABCG2):c.419del (p.Leu140fs)	ABCG2 (L140fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1737464	NM_004827.3(ABCG2):c.405G>A (p.Thr135=)	ABCG2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 30385	NM_004827.3(ABCG2):c.376C>T (p.Gln126Ter)	ABCG2 (Q126*)	Single nucleotide variant (nonsense)	Uric acid concentration, serum, quantitative trait locus 1 +1 more	Gassociation
Select item 787808	NM_004827.3(ABCG2):c.369C>T (p.Tyr123=)	ABCG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3059818	NM_004827.3(ABCG2):c.263+10A>G	ABCG2	Single nucleotide variant (intron variant)	ABCG2-related disorder	GBenign
Select item 782442	NM_004827.3(ABCG2):c.204-3C>T	ABCG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2284990	NM_004827.3(ABCG2):c.115T>G (p.Phe39Val)	ABCG2 (F39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30386	NM_004827.3(ABCG2):c.34G>A (p.Val12Met)	ABCG2 (V12M)	Single nucleotide variant (missense variant)	ABCG2-related disorder	GLikely benign
Select item 1236609	NM_004827.3(ABCG2):c.-20+6341T>G	ABCG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3246698	NC_000004.11:g.(?_88532061)_(89190078_?)dup	ABCG2, DMP1 +6 more	Duplication	Autosomal dominant polycystic kidney disease	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	DDX60L, MTHFD2L +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 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 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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +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	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 69