ClinVar for Gene (Select 23650) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2618042	NM_012101.4(TRIM29):c.955C>T (p.Arg319Trp)	TRIM29 (R319W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608625	NM_012101.4(TRIM29):c.830A>C (p.Gln277Pro)	TRIM29 (Q16P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592728	NM_012101.4(TRIM29):c.1172C>A (p.Pro391Gln)	TRIM29 (P130Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548574	NM_012101.4(TRIM29):c.864A>C (p.Glu288Asp)	TRIM29 (E288D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541955	NM_012101.4(TRIM29):c.1373T>G (p.Phe458Cys)	TRIM29 (F458C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540452	NM_012101.4(TRIM29):c.404C>A (p.Ser135Tyr)	TRIM29 (S135Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533244	NM_012101.4(TRIM29):c.1495C>G (p.Gln499Glu)	TRIM29 (Q499E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524557	NM_012101.4(TRIM29):c.1601A>G (p.Gln534Arg)	TRIM29 (Q273R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517287	NM_012101.4(TRIM29):c.432G>T (p.Glu144Asp)	TRIM29 (E144D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507723	NM_012101.4(TRIM29):c.1172C>T (p.Pro391Leu)	TRIM29 (P130L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487188	NM_012101.4(TRIM29):c.1021G>A (p.Asp341Asn)	TRIM29 (D80N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484157	NM_012101.4(TRIM29):c.1334G>A (p.Gly445Asp)	TRIM29 (G184D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458198	NM_012101.4(TRIM29):c.1264C>T (p.Arg422Cys)	LOC112042780, TRIM29 (R161C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455774	NM_012101.4(TRIM29):c.88G>A (p.Glu30Lys)	TRIM29 (E30K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	ARHGEF12, C1QTNF5 +14 more	Duplication	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2400747	NM_012101.4(TRIM29):c.1229G>A (p.Gly410Asp)	LOC112042780, TRIM29 (G149D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392113	NM_012101.4(TRIM29):c.1544G>A (p.Arg515Gln)	TRIM29 (R254Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362959	NM_012101.4(TRIM29):c.1300C>T (p.Arg434Cys)	LOC112042780, TRIM29 (R173C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356620	NM_012101.4(TRIM29):c.537C>G (p.Asn179Lys)	TRIM29 (N179K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353737	NM_012101.4(TRIM29):c.1289C>T (p.Ala430Val)	LOC112042780, TRIM29 (A169V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341630	NM_012101.4(TRIM29):c.1172C>G (p.Pro391Arg)	TRIM29 (P391R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341580	NM_012101.4(TRIM29):c.463C>T (p.Arg155Trp)	TRIM29 (R155W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338769	NM_012101.4(TRIM29):c.1504T>G (p.Phe502Val)	TRIM29 (F502V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316787	NM_012101.4(TRIM29):c.1102C>G (p.His368Asp)	TRIM29 (H368D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294321	NM_012101.4(TRIM29):c.1281G>A (p.Met427Ile)	LOC112042780, TRIM29 (M166I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279889	NM_012101.4(TRIM29):c.1301G>C (p.Arg434Pro)	LOC112042780, TRIM29 (R173P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271562	NM_012101.4(TRIM29):c.1463C>T (p.Ser488Leu)	TRIM29 (S488L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263541	NM_012101.4(TRIM29):c.1403T>C (p.Met468Thr)	TRIM29 (M207T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256197	NM_012101.4(TRIM29):c.296T>C (p.Met99Thr)	TRIM29 (M99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255613	NM_012101.4(TRIM29):c.17C>T (p.Ala6Val)	TRIM29 (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250977	NM_012101.4(TRIM29):c.668G>A (p.Arg223His)	TRIM29 (R223H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246577	NM_012101.4(TRIM29):c.1270G>A (p.Val424Ile)	LOC112042780, TRIM29 (V424I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243182	NM_012101.4(TRIM29):c.1741G>A (p.Gly581Arg)	TRIM29 (G320R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240628	NM_012101.4(TRIM29):c.772G>T (p.Val258Leu)	TRIM29 (V258L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228884	NM_012101.4(TRIM29):c.1204G>T (p.Gly402Trp)	TRIM29 (G402W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220137	NM_012101.4(TRIM29):c.892C>T (p.Arg298Cys)	TRIM29 (R37C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217862	NM_012101.4(TRIM29):c.942C>G (p.Phe314Leu)	TRIM29 (F53L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216541	NM_012101.4(TRIM29):c.1340A>C (p.Asp447Ala)	TRIM29 (D186A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212355	NM_012101.4(TRIM29):c.806C>T (p.Thr269Met)	TRIM29 (T269M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204942	NM_012101.4(TRIM29):c.1003C>T (p.Arg335Trp)	TRIM29 (R74W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	ATP5MG, SCN4B +73 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 1015400	NC_000011.9:g.(?_119077108)_(120133495_?)dup	RNF26, USP2 +9 more	Duplication	RASopathy	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 781049	NM_012101.4(TRIM29):c.1333+8C>A	LOC112042780, TRIM29	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710126	NM_012101.4(TRIM29):c.642C>G (p.Leu214=)	TRIM29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +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 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +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 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	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 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130006854, LOC130006855 +499 more	Copy number gain	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	ACAD8, ACRV1 +551 more	Copy number loss	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 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 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	ACAD8, ACRV1 +549 more	Copy number loss	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 77