ClinVar for Gene (Select 79827) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3145921	NM_024769.5(CLMP):c.892C>T (p.Arg298Cys)	CLMP (R298C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145919	NM_024769.5(CLMP):c.205C>T (p.Arg69Cys)	CLMP (R69C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145918	NM_024769.5(CLMP):c.161C>T (p.Thr54Ile)	CLMP (T54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3058390	NM_024769.5(CLMP):c.298C>T (p.Pro100Ser)	CLMP (P100S)	Single nucleotide variant (missense variant)	CLMP-related disorder	GLikely benign
Select item 3044307	NM_024769.5(CLMP):c.963C>T (p.Asp321=)	CLMP	Single nucleotide variant (synonymous variant)	CLMP-related disorder	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2612615	NM_024769.5(CLMP):c.337G>A (p.Val113Ile)	CLMP (V113I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598756	NM_024769.5(CLMP):c.947G>A (p.Arg316Gln)	CLMP (R316Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594884	NM_024769.5(CLMP):c.1115C>T (p.Thr372Met)	CLMP (T372M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591266	NM_024769.5(CLMP):c.866C>T (p.Ser289Phe)	CLMP (S289F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551828	NM_024769.5(CLMP):c.667G>C (p.Val223Leu)	CLMP (V223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2500824	NM_024769.5(CLMP):c.574C>T (p.Arg192Ter)	CLMP (R192*)	Single nucleotide variant (nonsense)	Congenital short bowel syndrome, autosomal recessive	GLikely pathogenic
Select item 2480285	NM_024769.5(CLMP):c.728C>T (p.Ala243Val)	CLMP (A243V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466661	NM_024769.5(CLMP):c.91G>T (p.Val31Phe)	CLMP (V31F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431641	NM_024769.5(CLMP):c.28+1G>A	CLMP	Single nucleotide variant (splice donor variant)	Congenital short bowel syndrome, autosomal recessive	GLikely pathogenic
Select item 2350503	NM_024769.5(CLMP):c.848G>A (p.Arg283His)	CLMP (R283H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337412	NM_024769.5(CLMP):c.259T>A (p.Ser87Thr)	CLMP (S87T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285858	NM_024769.5(CLMP):c.353G>A (p.Arg118His)	CLMP (R118H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255372	NM_024769.5(CLMP):c.622T>C (p.Cys208Arg)	CLMP (C208R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247779	NM_024769.5(CLMP):c.584T>A (p.Leu195Gln)	CLMP (L195Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222966	NM_024769.5(CLMP):c.883C>T (p.Arg295Trp)	CLMP (R295W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1679730	Single allele	BSX, CLMP +52 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1069033	NM_024769.5(CLMP):c.421G>T (p.Gly141Ter)	CLMP, LOC112042785 (G141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 791496	NM_024769.5(CLMP):c.888C>T (p.Ser296=)	CLMP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787547	NM_024769.5(CLMP):c.1011G>A (p.Gly337=)	CLMP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784224	NM_024769.5(CLMP):c.453G>A (p.Leu151=)	CLMP, LOC112042785	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 753985	NM_024769.5(CLMP):c.1032A>G (p.Glu344=)	CLMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719365	NM_024769.5(CLMP):c.163G>A (p.Asp55Asn)	CLMP (D55N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717942	NM_024769.5(CLMP):c.408G>A (p.Lys136=)	LOC112042785, CLMP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717448	NM_024769.5(CLMP):c.48C>G (p.Thr16=)	CLMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 427825	NM_024769.3(CLMP):c.[29-2A>G];[410G>A]			Intestinal pseudo-obstruction	GPathogenic
Select item 394886	GRCh37/hg19 11q24.1(chr11:123024300-123610766)x3	CLMP, GRAMD1B +2 more	Copy number gain	See cases	GUncertain significance
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 264669	NM_024769.5(CLMP):c.410G>A (p.Cys137Tyr)	CLMP, LOC112042785 (C137Y)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 264668	NM_024769.5(CLMP):c.29-2A>G	CLMP	Single nucleotide variant (splice acceptor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic
Select item 224071	NM_024769.5(CLMP):c.508C>T (p.Arg170Ter)	CLMP, LOC112042785 (R170*)	Single nucleotide variant (nonsense)	Intestinal pseudo-obstruction +1 more	GPathogenic/Likely pathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 155153	GRCh38/hg38 11q24.1(chr11:123187564-123800140)x3	CLMP, GRAMD1B +29 more	Copy number gain	See cases	GUncertain significance
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 50386	NM_024769.5(CLMP):c.371T>A (p.Val124Asp)	CLMP (V124D)	Single nucleotide variant (missense variant)	Congenital short bowel syndrome, autosomal recessive	GPathogenic
Select item 50385	NM_024769.5(CLMP):c.664C>T (p.Arg222Ter)	CLMP (R222*)	Single nucleotide variant (nonsense)	Intestinal pseudo-obstruction	GPathogenic
Select item 50384	NM_024769.5(CLMP):c.821G>A (p.Arg274Gln)	CLMP (R274Q)	Single nucleotide variant (missense variant)	Congenital short bowel syndrome, autosomal recessive	GPathogenic
Select item 50383	NM_024769.5(CLMP):c.230del (p.Glu77fs)	CLMP (E77fs)	Deletion (frameshift variant)	Congenital short bowel syndrome, autosomal recessive	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 88