29884[HGNC] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	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 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	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 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 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 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	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 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	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 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	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 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	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 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 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 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	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 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	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 1679730	Single allele	BSX, CLMP +52 more	Duplication	not provided	GUncertain significance
Select item 58189	GRCh38/hg38 11q24.1(chr11:122596622-122776303)x3	LOC124625856, LOC130006962 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2318646	NM_032873.5(UBASH3B):c.58A>G (p.Ser20Gly)	UBASH3B (S20G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2642480	NM_032873.5(UBASH3B):c.64G>C (p.Val22Leu)	UBASH3B (V22L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2232215	NM_032873.5(UBASH3B):c.74G>C (p.Arg25Pro)	UBASH3B (R25P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 774816	NM_032873.5(UBASH3B):c.171C>G (p.Ala57=)	UBASH3B (P21R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 727492	NM_032873.5(UBASH3B):c.183G>A (p.Thr61=)	UBASH3B (R25Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2525321	NM_032873.5(UBASH3B):c.194G>A (p.Ser65Asn)	UBASH3B (V29M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598666	NM_032873.5(UBASH3B):c.271G>A (p.Val91Ile)	UBASH3B (V56I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781236	NM_032873.5(UBASH3B):c.315C>T (p.Ser105=)	UBASH3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2227788	NM_032873.5(UBASH3B):c.316G>A (p.Asp106Asn)	UBASH3B (D106N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781237	NM_032873.5(UBASH3B):c.403-10T>C	UBASH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2222487	NM_032873.5(UBASH3B):c.556A>C (p.Lys186Gln)	UBASH3B (K151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559213	NM_032873.5(UBASH3B):c.581C>T (p.Ala194Val)	UBASH3B (A159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249869	NM_032873.5(UBASH3B):c.727G>C (p.Val243Leu)	UBASH3B (V243L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536195	NM_032873.5(UBASH3B):c.797C>T (p.Thr266Ile)	UBASH3B (T266I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215528	NM_032873.5(UBASH3B):c.832G>A (p.Gly278Arg)	UBASH3B (G278R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330553	NM_032873.5(UBASH3B):c.835G>C (p.Asp279His)	UBASH3B (D279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642481	NM_032873.5(UBASH3B):c.852T>G (p.Ser284=)	UBASH3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372866	NM_032873.5(UBASH3B):c.853C>T (p.Pro285Ser)	UBASH3B (P285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185503	NM_032873.5(UBASH3B):c.910G>A (p.Gly304Ser)	UBASH3B (G304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516349	NM_032873.5(UBASH3B):c.1001C>T (p.Thr334Ile)	UBASH3B (T334I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185500	NM_032873.5(UBASH3B):c.1007C>T (p.Ser336Leu)	UBASH3B (S301L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494523	NM_032873.5(UBASH3B):c.1040T>C (p.Leu347Ser)	UBASH3B (L312S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353007	NM_032873.5(UBASH3B):c.1099T>A (p.Cys367Ser)	UBASH3B (C332S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711917	NM_032873.5(UBASH3B):c.1138G>A (p.Gly380Ser)	UBASH3B (G345S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747650	NM_032873.5(UBASH3B):c.1149G>A (p.Lys383=)	UBASH3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552927	NM_032873.5(UBASH3B):c.1235G>T (p.Gly412Val)	UBASH3B (G377V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372313	NM_032873.5(UBASH3B):c.1238G>A (p.Arg413His)	UBASH3B (R378H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248787	NM_032873.5(UBASH3B):c.1241A>T (p.Tyr414Phe)	UBASH3B (Y414F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776672	NM_032873.5(UBASH3B):c.1281G>A (p.Gln427=)	UBASH3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3185501	NM_032873.5(UBASH3B):c.1369T>G (p.Leu457Val)	UBASH3B (L422V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185502	NM_032873.5(UBASH3B):c.1481G>A (p.Arg494His)	UBASH3B (R459H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556771	NM_032873.5(UBASH3B):c.1520C>T (p.Ala507Val)	UBASH3B (A472V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318791	NM_032873.5(UBASH3B):c.1528A>C (p.Thr510Pro)	UBASH3B (T475P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556266	NM_032873.5(UBASH3B):c.1574T>C (p.Leu525Pro)	UBASH3B (L490P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330552	NM_032873.5(UBASH3B):c.1678A>T (p.Ile560Leu)	UBASH3B (I560L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213433	NM_032873.5(UBASH3B):c.1691G>A (p.Cys564Tyr)	UBASH3B (C564Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530110	NM_032873.5(UBASH3B):c.1789G>T (p.Asp597Tyr)	UBASH3B (D562Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
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 2684657	GRCh37/hg19 11q23.3-24.1(chr11:119688645-122861792)x3	ARHGEF12, BLID +16 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
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 1340376	GRCh37/hg19 11q24.1(chr11:122572827-122788119)x3	CRTAM, JHY +1 more	Copy number gain	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815476	GRCh37/hg19 11q24.1(chr11:122572827-122781694)x3	CRTAM, UBASH3B +1 more	Copy number gain	not provided	GUncertain significance
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 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 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 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
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

ClinVar

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Items: 89