ARHGEF12[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 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 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	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 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 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 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 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 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130006854, LOC130006855 +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	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	ACAD8, ACRV1 +551 more	Copy number loss	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 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 2308583	NM_015313.3(ARHGEF12):c.19A>G (p.Thr7Ala)	ARHGEF12 (T7A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330122	NM_015313.3(ARHGEF12):c.60T>G (p.His20Gln)	ARHGEF12 (H20Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531944	NM_015313.3(ARHGEF12):c.119C>T (p.Ala40Val)	ARHGEF12 (A40V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208565	NM_015313.3(ARHGEF12):c.190G>A (p.Glu64Lys)	ARHGEF12 (E64K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2521603	NM_015313.3(ARHGEF12):c.217G>A (p.Val73Ile)	ARHGEF12 (V54I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486462	NM_015313.3(ARHGEF12):c.404A>G (p.Lys135Arg)	ARHGEF12 (K135R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2385139	NM_015313.3(ARHGEF12):c.473A>G (p.Asp158Gly)	ARHGEF12 (D139G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212398	NM_015313.3(ARHGEF12):c.548G>T (p.Gly183Val)	ARHGEF12 (G183V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486801	NM_015313.3(ARHGEF12):c.631A>C (p.Lys211Gln)	ARHGEF12 (K192Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787914	NM_015313.3(ARHGEF12):c.691C>T (p.Pro231Ser)	ARHGEF12 (P128S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2544066	NM_015313.3(ARHGEF12):c.800C>T (p.Thr267Ile)	ARHGEF12 (T164I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339660	NM_015313.3(ARHGEF12):c.865C>G (p.Leu289Val)	ARHGEF12 (L186V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775300	NM_015313.3(ARHGEF12):c.924+7T>A	ARHGEF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2348854	NM_015313.3(ARHGEF12):c.925A>G (p.Ser309Gly)	ARHGEF12 (S309G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215489	NM_015313.3(ARHGEF12):c.1083A>C (p.Glu361Asp)	ARHGEF12 (E258D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295657	NM_015313.3(ARHGEF12):c.1141C>T (p.Arg381Cys)	ARHGEF12 (R381C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302716	NM_015313.3(ARHGEF12):c.1198A>G (p.Thr400Ala)	ARHGEF12 (T381A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536822	NM_015313.3(ARHGEF12):c.1391A>G (p.Tyr464Cys)	ARHGEF12 (Y361C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332631	NM_015313.3(ARHGEF12):c.1459C>T (p.Arg487Cys)	ARHGEF12 (R468C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291319	NM_015313.3(ARHGEF12):c.1460G>A (p.Arg487His)	ARHGEF12 (R487H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364474	NM_015313.3(ARHGEF12):c.1598C>T (p.Ala533Val)	ARHGEF12 (A430V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298768	NM_015313.3(ARHGEF12):c.1891T>C (p.Ser631Pro)	ARHGEF12 (S631P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287586	NM_015313.3(ARHGEF12):c.1903T>A (p.Ser635Thr)	ARHGEF12 (S532T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613031	NM_015313.3(ARHGEF12):c.1928C>G (p.Ser643Cys)	ARHGEF12 (S540C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710017	NM_015313.3(ARHGEF12):c.1996A>G (p.Met666Val)	ARHGEF12 (M647V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787915	NM_015313.3(ARHGEF12):c.2037A>C (p.Gly679=)	ARHGEF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 154156	GRCh38/hg38 11q23.3(chr11:120453168-121182251)x3	ARHGEF12, GRIK4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2261754	NM_015313.3(ARHGEF12):c.2068G>A (p.Val690Ile)	ARHGEF12 (V587I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710127	NM_015313.3(ARHGEF12):c.2331G>A (p.Val777=)	ARHGEF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2326156	NM_015313.3(ARHGEF12):c.2351G>A (p.Cys784Tyr)	ARHGEF12 (C784Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470318	NM_015313.3(ARHGEF12):c.2727G>C (p.Gln909His)	ARHGEF12 (Q806H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308334	NM_015313.3(ARHGEF12):c.3080T>C (p.Val1027Ala)	ARHGEF12 (V1027A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480179	NM_015313.3(ARHGEF12):c.3314A>G (p.Asn1105Ser)	ARHGEF12 (N1002S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494339	NM_015313.3(ARHGEF12):c.3422C>T (p.Pro1141Leu)	ARHGEF12 (P1038L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218508	NM_015313.3(ARHGEF12):c.3451G>A (p.Glu1151Lys)	ARHGEF12 (E1048K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461471	NM_015313.3(ARHGEF12):c.3560T>C (p.Leu1187Ser)	ARHGEF12 (L1187S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787916	NM_015313.3(ARHGEF12):c.3694T>A (p.Tyr1232Asn)	ARHGEF12 (Y1129N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2352783	NM_015313.3(ARHGEF12):c.3707T>A (p.Ile1236Asn)	ARHGEF12 (I1217N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293211	NM_015313.3(ARHGEF12):c.3745G>A (p.Ala1249Thr)	ARHGEF12 (A1146T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226718	NM_015313.3(ARHGEF12):c.3800T>C (p.Leu1267Pro)	ARHGEF12 (L1164P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316988	NM_015313.3(ARHGEF12):c.3836A>C (p.Gln1279Pro)	ARHGEF12 (Q1176P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2376035	NM_015313.3(ARHGEF12):c.3839A>C (p.His1280Pro)	ARHGEF12 (H1261P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603949	NM_015313.3(ARHGEF12):c.3848G>A (p.Arg1283Lys)	ARHGEF12 (R1180K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754930	NM_015313.3(ARHGEF12):c.3873G>A (p.Pro1291=)	ARHGEF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593901	NM_015313.3(ARHGEF12):c.4000T>A (p.Ser1334Thr)	ARHGEF12 (S1315T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409354	NM_015313.3(ARHGEF12):c.4170T>A (p.Asp1390Glu)	ARHGEF12 (D1371E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517657	NM_015313.3(ARHGEF12):c.4229G>T (p.Arg1410Leu)	ARHGEF12 (R1391L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431657	NM_015313.3(ARHGEF12):c.4449_4455del (p.Met1483fs)	ARHGEF12 (M1380fs +2 more)	Deletion (frameshift variant)	Glaucoma	GUncertain significance
Select item 2610706	NM_015313.3(ARHGEF12):c.4487G>C (p.Cys1496Ser)	ARHGEF12 (C1496S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360458	NM_015313.3(ARHGEF12):c.4579C>T (p.Leu1527Phe)	ARHGEF12 (L1527F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2425667	NC_000011.9:g.(?_120130513)_(121500272_?)del	ARHGEF12, GRIK4 +6 more	Deletion	not provided	GUncertain significance
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	ARHGEF12, C1QTNF5 +14 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 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 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 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 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 221483	GRCh37/hg19 11q23.3(chr11:120169037-120308055)x3	ARHGEF12, POU2F3 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 88