ClinVar for Gene (Select 56955) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246698	NC_000004.11:g.(?_88532061)_(89190078_?)dup	ABCG2, DMP1 +6 more	Duplication	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 3125358	NM_020203.6(MEPE):c.980C>T (p.Ala327Val)	MEPE (A358V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125356	NM_020203.6(MEPE):c.853T>C (p.Phe285Leu)	MEPE (F316L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125355	NM_020203.6(MEPE):c.296A>T (p.Glu99Val)	MEPE (E99V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125354	NM_020203.6(MEPE):c.1534G>A (p.Glu512Lys)	MEPE (E399K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125353	NM_020203.6(MEPE):c.1497C>A (p.Asn499Lys)	MEPE (N530K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125352	NM_020203.6(MEPE):c.1076A>G (p.Asp359Gly)	MEPE (D359G +2 more)	Single nucleotide variant (missense variant)	not specified	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 3053532	NM_020203.6(MEPE):c.667C>T (p.Leu223=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related disorder	GLikely benign
Select item 3052922	NM_020203.6(MEPE):c.681A>C (p.Ser227=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related disorder	GBenign
Select item 3044778	NM_020203.6(MEPE):c.1393C>A (p.His465Asn)	MEPE (H352N +2 more)	Single nucleotide variant (missense variant)	MEPE-related disorder	GBenign
Select item 3043486	NM_020203.6(MEPE):c.384T>C (p.Asp128=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related disorder	GLikely benign
Select item 3043442	NM_020203.6(MEPE):c.717C>T (p.Ser239=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related disorder	GLikely benign
Select item 3043104	NM_020203.6(MEPE):c.876G>A (p.Glu292=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related disorder	GLikely benign
Select item 3042673	NM_020203.6(MEPE):c.177A>G (p.Ser59=)	MEPE	Single nucleotide variant (synonymous variant +1 more)	MEPE-related disorder	GLikely benign
Select item 3042443	NM_020203.6(MEPE):c.122A>T (p.Asn41Ile)	MEPE (N41I +1 more)	Single nucleotide variant (missense variant +1 more)	MEPE-related disorder	GBenign
Select item 3038619	NM_020203.6(MEPE):c.616A>G (p.Ser206Gly)	MEPE (S206G +2 more)	Single nucleotide variant (missense variant)	MEPE-related disorder	GBenign
Select item 3036358	NM_020203.6(MEPE):c.972G>A (p.Ala324=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related disorder	GLikely benign
Select item 3032999	NM_020203.6(MEPE):c.430G>A (p.Ala144Thr)	MEPE (A144T +2 more)	Single nucleotide variant (missense variant)	MEPE-related disorder	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 2654935	NM_020203.6(MEPE):c.981A>G (p.Ala327=)	MEPE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636119	NM_020203.6(MEPE):c.775G>A (p.Gly259Ser)	MEPE (G146S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2631127	NM_020203.6(MEPE):c.1456C>A (p.Pro486Thr)	MEPE (P373T +2 more)	Single nucleotide variant (missense variant)	MEPE-related disorder	GUncertain significance
Select item 2629327	NM_020203.6(MEPE):c.365G>A (p.Gly122Glu)	MEPE (G122E +2 more)	Single nucleotide variant (missense variant)	MEPE-related disorder	GUncertain significance
Select item 2618686	NM_020203.6(MEPE):c.1499G>T (p.Arg500Met)	MEPE (R387M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618206	NM_020203.6(MEPE):c.812C>T (p.Ala271Val)	MEPE (A158V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616002	NM_020203.6(MEPE):c.1315C>G (p.Pro439Ala)	MEPE (P470A +2 more)	Single nucleotide variant (missense variant)	not specified	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 2560711	NM_020203.6(MEPE):c.568C>T (p.His190Tyr)	MEPE (H221Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557953	NM_020203.6(MEPE):c.718G>T (p.Gly240Cys)	MEPE (G271C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550072	NM_020203.6(MEPE):c.658A>G (p.Ile220Val)	MEPE (I251V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549512	NM_020203.6(MEPE):c.490C>G (p.Leu164Val)	MEPE (L195V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513932	NM_020203.6(MEPE):c.980C>A (p.Ala327Glu)	MEPE (A214E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510990	NM_020203.6(MEPE):c.950T>C (p.Ile317Thr)	MEPE (I348T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510211	NM_020203.6(MEPE):c.1130C>T (p.Ala377Val)	MEPE (A408V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2498966	GRCh37/hg19 4q22.1(chr4:88344058-89061168)x1	ABCG2, DMP1 +7 more	Copy number loss	not provided	GPathogenic
Select item 2496337	NM_020203.6(MEPE):c.1411T>G (p.Tyr471Asp)	MEPE (Y358D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481585	NM_020203.6(MEPE):c.79A>C (p.Thr27Pro)	MEPE (T27P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477063	NM_020203.6(MEPE):c.1018G>A (p.Asp340Asn)	MEPE (D227N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403047	NM_020203.6(MEPE):c.851G>T (p.Gly284Val)	MEPE (G171V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400757	NM_020203.6(MEPE):c.971C>T (p.Ala324Val)	MEPE (A324V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390462	NM_020203.6(MEPE):c.580A>G (p.Lys194Glu)	MEPE (K194E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380551	NM_020203.6(MEPE):c.265T>C (p.Tyr89His)	MEPE (Y120H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370053	NM_020203.6(MEPE):c.1153G>A (p.Glu385Lys)	MEPE (E385K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365329	NM_020203.6(MEPE):c.1412A>G (p.Tyr471Cys)	MEPE (Y502C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361971	NM_020203.6(MEPE):c.353C>T (p.Pro118Leu)	MEPE (P149L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2354457	NM_020203.6(MEPE):c.617G>T (p.Ser206Ile)	MEPE (S206I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328299	NM_020203.6(MEPE):c.930A>C (p.Glu310Asp)	MEPE (E341D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316894	NM_020203.6(MEPE):c.1036A>C (p.Asn346His)	MEPE (N233H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301083	NM_020203.6(MEPE):c.136G>T (p.Gly46Cys)	MEPE (G77C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294582	NM_020203.6(MEPE):c.1454T>C (p.Met485Thr)	MEPE (M485T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288078	NM_020203.6(MEPE):c.248G>A (p.Ser83Asn)	MEPE (S83N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240887	NM_020203.6(MEPE):c.479C>T (p.Ala160Val)	MEPE (A160V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223773	NM_020203.6(MEPE):c.1112A>G (p.Glu371Gly)	MEPE (E402G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220430	NM_020203.6(MEPE):c.919C>T (p.Pro307Ser)	MEPE (P338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205084	NM_020203.6(MEPE):c.1555T>G (p.Ser519Ala)	MEPE (S550A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808200	GRCh37/hg19 4q22.1(chr4:88696112-88764990)x1	IBSP, MEPE	Copy number loss	not provided	GUncertain significance
Select item 1679105	NM_020203.6(MEPE):c.1179T>A (p.Ser393Arg)	MEPE (S280R +2 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 767963	NM_020203.6(MEPE):c.1461A>C (p.Gln487His)	MEPE (Q487H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767962	NM_020203.6(MEPE):c.1441C>T (p.Arg481Trp)	MEPE (R481W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767961	NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)	MEPE (N449T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767960	NM_020203.6(MEPE):c.1240T>G (p.Ser414Ala)	MEPE (S301A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767959	NM_020203.6(MEPE):c.1185C>G (p.Asn395Lys)	MEPE (N395K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767958	NM_020203.6(MEPE):c.1171G>A (p.Ala391Thr)	MEPE (A278T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 598009	NM_020203.6(MEPE):c.988G>A (p.Val330Ile)	MEPE (V330I +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
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
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 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 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 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 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

ClinVar

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Links from Gene

Items: 87