174[geneid] - ClinVar

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Items: 74

	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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	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 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 18168	NC_000004.12:g.73436100G>A	AFP, LOC111832670	Single nucleotide variant	Alpha-fetoprotein, hereditary persistence of	GAffects
Select item 208793	NC_000004.12:g.73436164C>A	AFP, LOC111832670	Single nucleotide variant	Alpha-fetoprotein, hereditary persistence of	GAffects
Select item 3274910	NM_001134.3(AFP):c.118G>A (p.Glu40Lys)	AFP (E40K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051185	NM_001134.3(AFP):c.149T>A (p.Phe50Tyr)	AFP (F50Y)	Single nucleotide variant (missense variant +1 more)	AFP-related disorder	GLikely benign
Select item 3274889	NM_001134.3(AFP):c.167A>G (p.Gln56Arg)	AFP (Q56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471348	NM_001134.3(AFP):c.286G>A (p.Glu96Lys)	AFP (E96K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742527	NM_001134.3(AFP):c.325G>C (p.Gly109Arg)	AFP (G109R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3093344	NM_001134.3(AFP):c.394A>C (p.Thr132Pro)	AFP (T132P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 740705	NM_001134.3(AFP):c.399A>G (p.Pro133=)	AFP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2597245	NM_001134.3(AFP):c.401C>T (p.Ala134Val)	AFP (A134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595416	NM_001134.3(AFP):c.406A>T (p.Ile136Phe)	AFP (I136F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361426	NM_001134.3(AFP):c.418C>A (p.Gln140Lys)	AFP (Q140K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093354	NM_001134.3(AFP):c.428A>C (p.Glu143Ala)	AFP (E143A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 18170	NM_001134.3(AFP):c.543G>A (p.Trp181Ter)	AFP (W181* +1 more)	Single nucleotide variant (nonsense)	Alpha-fetoprotein deficiency	GPathogenic
Select item 2358456	NM_001134.3(AFP):c.550C>T (p.Arg184Cys)	AFP (R184C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588408	NM_001134.3(AFP):c.712A>C (p.Ile238Leu)	AFP (I238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738681	NM_001134.3(AFP):c.714-5C>T	AFP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2527773	NM_001134.3(AFP):c.823C>G (p.Leu275Val)	AFP (L275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059552	NM_001134.3(AFP):c.844-10T>C	AFP	Single nucleotide variant (intron variant)	AFP-related disorder	GBenign
Select item 771142	NM_001134.3(AFP):c.858C>T (p.Ser286=)	AFP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2319744	NM_001134.3(AFP):c.881C>T (p.Thr294Ile)	AFP (T136I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 18169	NM_001134.3(AFP):c.883_884del (p.Leu295fs)	AFP (L137fs +1 more)	Microsatellite (frameshift variant)	Alpha-fetoprotein deficiency	GPathogenic
Select item 2289110	NM_001134.3(AFP):c.932G>A (p.Gly311Asp)	AFP (G153D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618742	NM_001134.3(AFP):c.941T>C (p.Ile314Thr)	AFP (I156T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479955	NM_001134.3(AFP):c.944T>C (p.Ile315Thr)	AFP (I315T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327412	NM_001134.3(AFP):c.962A>C (p.Glu321Ala)	AFP (E163A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274878	NM_001134.3(AFP):c.1001T>C (p.Leu334Ser)	AFP (L334S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538756	NM_001134.3(AFP):c.1045A>G (p.Ile349Val)	AFP (I191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322297	NM_001134.3(AFP):c.1171C>G (p.Leu391Val)	AFP (L233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274900	NM_001134.3(AFP):c.1178G>A (p.Cys393Tyr)	AFP (C235Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521111	NM_001134.3(AFP):c.1334C>T (p.Ser445Leu)	AFP, LOC126807077 (S445L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780929	NM_001134.3(AFP):c.1335G>A (p.Ser445=)	AFP, LOC126807077	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733977	NM_001134.3(AFP):c.1389A>G (p.Gln463=)	AFP, LOC126807077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274914	NM_001134.3(AFP):c.1426G>A (p.Ala476Thr)	AFP, LOC126807077 (A476T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274642	NM_001134.3(AFP):c.1427C>T (p.Ala476Val)	AFP, LOC126807077 (A318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258889	NM_001134.3(AFP):c.1439T>C (p.Ile480Thr)	AFP (I480T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050385	NM_001134.3(AFP):c.1446A>G (p.Gly482=)	AFP	Single nucleotide variant (synonymous variant)	AFP-related disorder	GLikely benign
Select item 2233431	NM_001134.3(AFP):c.1466A>C (p.Glu489Ala)	AFP (E489A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040398	NM_001134.3(AFP):c.1533C>T (p.Cys511=)	AFP	Single nucleotide variant (synonymous variant)	AFP-related disorder	GLikely benign
Select item 2411733	NM_001134.3(AFP):c.1594A>G (p.Ile532Val)	AFP (I532V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536021	NM_001134.3(AFP):c.1599C>G (p.Phe533Leu)	AFP (F375L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093318	NM_001134.3(AFP):c.1621C>A (p.Gln541Lys)	AFP (Q383K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053720	NM_001134.3(AFP):c.1640C>T (p.Thr547Ile)	AFP (T389I +1 more)	Single nucleotide variant (missense variant)	AFP-related disorder	GBenign
Select item 3338239	NM_001134.3(AFP):c.1641A>G (p.Thr547=)	AFP	Single nucleotide variant (synonymous variant)	Alpha-fetoprotein deficiency	GBenign
Select item 788977	NM_001134.3(AFP):c.1641= (p.Thr547=)	AFP	Variation (no sequence alteration)	not provided	GBenign
Select item 3093322	NM_001134.3(AFP):c.1674G>C (p.Lys558Asn)	AFP (K558N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093324	NM_001134.3(AFP):c.1693G>C (p.Glu565Gln)	AFP (E565Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093331	NM_001134.3(AFP):c.1767A>T (p.Glu589Asp)	AFP (E431D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382345	NM_001134.3(AFP):c.1816G>T (p.Ala606Ser)	AFP (A448S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929747	NM_001134.3(AFP):c.1822G>A (p.Gly608Arg)	AFP (G450R +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	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 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 929334	GRCh37/hg19 4q13.3(chr4:74275515-74688555)x3	AFM, AFP +3 more	Copy number gain	See cases	GUncertain significance
Select item 814569	GRCh37/hg19 4q13.3(chr4:74304764-74357478)x1	AFP, AFM	Copy number loss	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562931	GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3	CXCL1, EPGN +15 more	Copy number gain	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 74