"Ambry Genetics"[submitter] AND "ARHGEF12"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 58