ARHGEF12[gene] - ClinVar - NCBI

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	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 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 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 2308583	NM_015313.3(ARHGEF12):c.19A>G (p.Thr7Ala)	ARHGEF12 (T7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330122	NM_015313.3(ARHGEF12):c.60T>G (p.His20Gln)	ARHGEF12 (H20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531944	NM_015313.3(ARHGEF12):c.119C>T (p.Ala40Val)	ARHGEF12 (A40V)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2486462	NM_015313.3(ARHGEF12):c.404A>G (p.Lys135Arg)	ARHGEF12 (K135R +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3129074	NM_015313.3(ARHGEF12):c.496A>G (p.Ile166Val)	ARHGEF12 (I166V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212398	NM_015313.3(ARHGEF12):c.548G>T (p.Gly183Val)	ARHGEF12 (G183V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486801	NM_015313.3(ARHGEF12):c.631A>C (p.Lys211Gln)	ARHGEF12 (K192Q +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3129075	NM_015313.3(ARHGEF12):c.862G>A (p.Val288Ile)	ARHGEF12 (V288I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339660	NM_015313.3(ARHGEF12):c.865C>G (p.Leu289Val)	ARHGEF12 (L186V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129076	NM_015313.3(ARHGEF12):c.892G>A (p.Asp298Asn)	ARHGEF12 (D195N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129077	NM_015313.3(ARHGEF12):c.901C>T (p.Arg301Trp)	ARHGEF12 (R282W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313023	NM_015313.3(ARHGEF12):c.905C>T (p.Pro302Leu)	ARHGEF12 (P199L +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2215489	NM_015313.3(ARHGEF12):c.1083A>C (p.Glu361Asp)	ARHGEF12 (E258D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295657	NM_015313.3(ARHGEF12):c.1141C>T (p.Arg381Cys)	ARHGEF12 (R381C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129060	NM_015313.3(ARHGEF12):c.1142G>A (p.Arg381His)	ARHGEF12 (R362H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302716	NM_015313.3(ARHGEF12):c.1198A>G (p.Thr400Ala)	ARHGEF12 (T381A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129062	NM_015313.3(ARHGEF12):c.1224C>A (p.Asp408Glu)	ARHGEF12 (D389E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129063	NM_015313.3(ARHGEF12):c.1235A>G (p.His412Arg)	ARHGEF12 (H412R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313026	NM_015313.3(ARHGEF12):c.1384C>T (p.Arg462Cys)	ARHGEF12 (R359C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129064	NM_015313.3(ARHGEF12):c.1385G>A (p.Arg462His)	ARHGEF12 (R359H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536822	NM_015313.3(ARHGEF12):c.1391A>G (p.Tyr464Cys)	ARHGEF12 (Y361C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332631	NM_015313.3(ARHGEF12):c.1459C>T (p.Arg487Cys)	ARHGEF12 (R468C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291319	NM_015313.3(ARHGEF12):c.1460G>A (p.Arg487His)	ARHGEF12 (R487H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129065	NM_015313.3(ARHGEF12):c.1526G>T (p.Arg509Leu)	ARHGEF12 (R490L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364474	NM_015313.3(ARHGEF12):c.1598C>T (p.Ala533Val)	ARHGEF12 (A430V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313021	NM_015313.3(ARHGEF12):c.1862T>C (p.Leu621Pro)	ARHGEF12 (L518P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298768	NM_015313.3(ARHGEF12):c.1891T>C (p.Ser631Pro)	ARHGEF12 (S631P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287586	NM_015313.3(ARHGEF12):c.1903T>A (p.Ser635Thr)	ARHGEF12 (S532T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613031	NM_015313.3(ARHGEF12):c.1928C>G (p.Ser643Cys)	ARHGEF12 (S540C +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3129066	NM_015313.3(ARHGEF12):c.2113C>T (p.Arg705Cys)	ARHGEF12 (R602C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129067	NM_015313.3(ARHGEF12):c.2141C>T (p.Pro714Leu)	ARHGEF12 (P611L +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3129068	NM_015313.3(ARHGEF12):c.2528T>C (p.Ile843Thr)	ARHGEF12 (I824T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470318	NM_015313.3(ARHGEF12):c.2727G>C (p.Gln909His)	ARHGEF12 (Q806H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236622	NM_015313.3(ARHGEF12):c.2764C>T (p.Arg922Cys)	ARHGEF12 (R819C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3129069	NM_015313.3(ARHGEF12):c.2914A>T (p.Asn972Tyr)	ARHGEF12 (N972Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308334	NM_015313.3(ARHGEF12):c.3080T>C (p.Val1027Ala)	ARHGEF12 (V1027A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480179	NM_015313.3(ARHGEF12):c.3314A>G (p.Asn1105Ser)	ARHGEF12 (N1002S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494339	NM_015313.3(ARHGEF12):c.3422C>T (p.Pro1141Leu)	ARHGEF12 (P1038L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313043	NM_015313.3(ARHGEF12):c.3440C>T (p.Ser1147Leu)	ARHGEF12 (S1147L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218508	NM_015313.3(ARHGEF12):c.3451G>A (p.Glu1151Lys)	ARHGEF12 (E1048K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129070	NM_015313.3(ARHGEF12):c.3524A>T (p.Gln1175Leu)	ARHGEF12 (Q1072L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461471	NM_015313.3(ARHGEF12):c.3560T>C (p.Leu1187Ser)	ARHGEF12 (L1187S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313024	NM_015313.3(ARHGEF12):c.3656A>G (p.Gln1219Arg)	ARHGEF12 (Q1200R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313028	NM_015313.3(ARHGEF12):c.3659A>C (p.His1220Pro)	ARHGEF12 (H1117P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129071	NM_015313.3(ARHGEF12):c.3659A>G (p.His1220Arg)	ARHGEF12 (H1201R +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2293211	NM_015313.3(ARHGEF12):c.3745G>A (p.Ala1249Thr)	ARHGEF12 (A1146T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226718	NM_015313.3(ARHGEF12):c.3800T>C (p.Leu1267Pro)	ARHGEF12 (L1164P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316988	NM_015313.3(ARHGEF12):c.3836A>C (p.Gln1279Pro)	ARHGEF12 (Q1176P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376035	NM_015313.3(ARHGEF12):c.3839A>C (p.His1280Pro)	ARHGEF12 (H1261P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603949	NM_015313.3(ARHGEF12):c.3848G>A (p.Arg1283Lys)	ARHGEF12 (R1180K +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3129072	NM_015313.3(ARHGEF12):c.4028T>C (p.Leu1343Pro)	ARHGEF12 (L1240P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313035	NM_015313.3(ARHGEF12):c.4072C>T (p.His1358Tyr)	ARHGEF12 (H1339Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409354	NM_015313.3(ARHGEF12):c.4170T>A (p.Asp1390Glu)	ARHGEF12 (D1371E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517657	NM_015313.3(ARHGEF12):c.4229G>T (p.Arg1410Leu)	ARHGEF12 (R1391L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129073	NM_015313.3(ARHGEF12):c.4244A>G (p.Tyr1415Cys)	ARHGEF12 (Y1312C +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2360458	NM_015313.3(ARHGEF12):c.4579C>T (p.Leu1527Phe)	ARHGEF12 (L1527F +2 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 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	NECTIN1, TLCD5 +14 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	RASopathy +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	DSCAML1, FOXR1 +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

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