ARHGEF11[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 2396743	NM_198236.3(ARHGEF11):c.4577C>T (p.Pro1526Leu)	ARHGEF11, LRRC71 (P1523L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129056	NM_198236.3(ARHGEF11):c.4520T>C (p.Phe1507Ser)	ARHGEF11, LRRC71 (F1467S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129055	NM_198236.3(ARHGEF11):c.4505C>T (p.Thr1502Met)	ARHGEF11, LRRC71 (T1492M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308433	NM_198236.3(ARHGEF11):c.4480G>C (p.Gly1494Arg)	ARHGEF11, LRRC71 (G1454R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347126	NM_198236.3(ARHGEF11):c.4453G>A (p.Ala1485Thr)	ARHGEF11, LRRC71 (A1485T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129054	NM_198236.3(ARHGEF11):c.4418C>T (p.Thr1473Ile)	ARHGEF11, LRRC71 (T1473I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129053	NM_198236.3(ARHGEF11):c.4403C>A (p.Thr1468Asn)	ARHGEF11, LRRC71 (T1428N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309300	NM_198236.3(ARHGEF11):c.4390A>G (p.Met1464Val)	ARHGEF11, LRRC71 (M1464V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534819	NM_198236.3(ARHGEF11):c.4378A>G (p.Arg1460Gly)	ARHGEF11, LRRC71 (R1450G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205389	NM_198236.3(ARHGEF11):c.4355G>A (p.Arg1452His)	ARHGEF11, LRRC71 (R1412H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129052	NM_198236.3(ARHGEF11):c.4349C>T (p.Pro1450Leu)	ARHGEF11, LRRC71 (P1450L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270135	NM_198236.3(ARHGEF11):c.4345C>T (p.Arg1449Cys)	ARHGEF11, LRRC71 (R1446C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312977	NM_198236.3(ARHGEF11):c.4333G>A (p.Asp1445Asn)	ARHGEF11, LRRC71 (D1435N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240800	NM_198236.3(ARHGEF11):c.4327G>T (p.Gly1443Cys)	ARHGEF11, LRRC71 (G1443C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380153	NM_198236.3(ARHGEF11):c.4310A>C (p.Gln1437Pro)	ARHGEF11, LRRC71 (Q1427P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727976	NM_198236.3(ARHGEF11):c.4193-6G>C	ARHGEF11, LRRC71	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2513237	NM_198236.3(ARHGEF11):c.4084G>A (p.Val1362Ile)	ARHGEF11, LRRC71 (V1352I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273888	NM_198236.3(ARHGEF11):c.4014G>T (p.Trp1338Cys)	ARHGEF11, LRRC71 (W1298C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319811	NM_198236.3(ARHGEF11):c.3986C>A (p.Pro1329His)	ARHGEF11, LRRC71 (P1319H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386742	NM_198236.3(ARHGEF11):c.3940C>T (p.Arg1314Trp)	ARHGEF11, LRRC71 (R1274W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602575	NM_198236.3(ARHGEF11):c.3872G>T (p.Gly1291Val)	ARHGEF11, LRRC71 (G1291V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212706	NM_198236.3(ARHGEF11):c.3847G>A (p.Val1283Ile)	ARHGEF11, LRRC71 (V1243I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129051	NM_198236.3(ARHGEF11):c.3832C>A (p.Pro1278Thr)	ARHGEF11, LRRC71 (P1275T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273122	NM_198236.3(ARHGEF11):c.3832C>G (p.Pro1278Ala)	ARHGEF11, LRRC71 (P1275A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294441	NM_198236.3(ARHGEF11):c.3811G>A (p.Glu1271Lys)	ARHGEF11, LRRC71 (E1261K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357112	NM_198236.3(ARHGEF11):c.3764G>A (p.Ser1255Asn)	ARHGEF11, LRRC71 (S1255N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129050	NM_198236.3(ARHGEF11):c.3531G>C (p.Gln1177His)	ARHGEF11, LRRC71 (Q1137H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312966	NM_198236.3(ARHGEF11):c.3511G>A (p.Gly1171Arg)	ARHGEF11 (G1161R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548689	NM_198236.3(ARHGEF11):c.3436G>A (p.Gly1146Ser)	ARHGEF11 (G1136S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313018	NM_198236.3(ARHGEF11):c.3427G>A (p.Ala1143Thr)	ARHGEF11 (A1103T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543198	NM_198236.3(ARHGEF11):c.3382G>A (p.Ala1128Thr)	ARHGEF11 (A1088T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356064	NM_198236.3(ARHGEF11):c.3380C>A (p.Ala1127Asp)	ARHGEF11 (A1087D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204552	NM_198236.3(ARHGEF11):c.3356G>A (p.Arg1119Gln)	ARHGEF11 (R1079Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312998	NM_198236.3(ARHGEF11):c.3290A>G (p.Tyr1097Cys)	ARHGEF11 (Y1057C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129049	NM_198236.3(ARHGEF11):c.3269A>G (p.Lys1090Arg)	ARHGEF11 (K1087R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313017	NM_198236.3(ARHGEF11):c.3253A>G (p.Ile1085Val)	ARHGEF11 (I1075V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129048	NM_198236.3(ARHGEF11):c.3163T>C (p.Ser1055Pro)	ARHGEF11 (S1015P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129047	NM_198236.3(ARHGEF11):c.2869C>G (p.Leu957Val)	ARHGEF11 (L917V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129046	NM_198236.3(ARHGEF11):c.2848C>T (p.Arg950Trp)	ARHGEF11 (R940W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588533	NM_198236.3(ARHGEF11):c.2567G>A (p.Arg856Gln)	ARHGEF11 (R846Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129045	NM_198236.3(ARHGEF11):c.2459C>T (p.Pro820Leu)	ARHGEF11 (P817L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260408	NM_198236.3(ARHGEF11):c.2450G>A (p.Arg817Gln)	ARHGEF11 (R814Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495877	NM_198236.3(ARHGEF11):c.2408G>A (p.Arg803Gln)	ARHGEF11 (R800Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639471	NM_198236.3(ARHGEF11):c.2295G>A (p.Val765=)	ARHGEF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492660	NM_198236.3(ARHGEF11):c.2194C>T (p.Leu732Phe)	ARHGEF11 (L722F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488294	NM_198236.3(ARHGEF11):c.2186C>T (p.Thr729Ile)	ARHGEF11 (T719I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588068	NM_198236.3(ARHGEF11):c.2157C>A (p.Ser719Arg)	ARHGEF11 (S719R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381490	NM_198236.3(ARHGEF11):c.2146G>A (p.Gly716Ser)	ARHGEF11 (G706S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244805	NM_198236.3(ARHGEF11):c.2093G>A (p.Ser698Asn)	ARHGEF11 (S688N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312947	NM_198236.3(ARHGEF11):c.1940T>C (p.Ile647Thr)	ARHGEF11 (I637T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609692	NM_198236.3(ARHGEF11):c.1921G>A (p.Asp641Asn)	ARHGEF11 (D601N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327761	NM_198236.3(ARHGEF11):c.1811A>G (p.Asn604Ser)	ARHGEF11 (N594S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402155	NM_198236.3(ARHGEF11):c.1789C>A (p.Pro597Thr)	ARHGEF11 (P557T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611999	NM_198236.3(ARHGEF11):c.1787C>T (p.Ser596Phe)	ARHGEF11 (S556F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313008	NM_198236.3(ARHGEF11):c.1660A>G (p.Lys554Glu)	ARHGEF11 (K550E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246882	NM_198236.3(ARHGEF11):c.1615G>A (p.Ala539Thr)	ARHGEF11 (A535T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539120	NM_198236.3(ARHGEF11):c.1454G>A (p.Arg485Gln)	ARHGEF11 (R445Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239824	NM_198236.3(ARHGEF11):c.1347G>T (p.Met449Ile)	ARHGEF11 (M445I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309870	NM_198236.3(ARHGEF11):c.1303G>A (p.Glu435Lys)	ARHGEF11 (E431K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409868	NM_198236.3(ARHGEF11):c.1289G>A (p.Arg430His)	ARHGEF11 (R390H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129044	NM_198236.3(ARHGEF11):c.1231A>G (p.Lys411Glu)	ARHGEF11 (K411E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339863	NM_198236.3(ARHGEF11):c.1132A>G (p.Ser378Gly)	ARHGEF11 (S374G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344082	NM_198236.3(ARHGEF11):c.1116C>G (p.Phe372Leu)	ARHGEF11 (F368L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129059	NM_198236.3(ARHGEF11):c.1111A>G (p.Ile371Val)	ARHGEF11 (I367V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537292	NM_198236.3(ARHGEF11):c.1019C>T (p.Pro340Leu)	ARHGEF11 (P340L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129058	NM_198236.3(ARHGEF11):c.983A>C (p.Lys328Thr)	ARHGEF11 (K288T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542927	NM_198236.3(ARHGEF11):c.965G>A (p.Gly322Asp)	ARHGEF11 (G282D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547112	NM_198236.3(ARHGEF11):c.955G>A (p.Gly319Ser)	ARHGEF11 (G315S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312955	NM_198236.3(ARHGEF11):c.923G>A (p.Arg308Gln)	ARHGEF11 (R304Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268784	NM_198236.3(ARHGEF11):c.826T>A (p.Ser276Thr)	ARHGEF11 (S272T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254125	NM_198236.3(ARHGEF11):c.784G>T (p.Gly262Cys)	ARHGEF11 (G258C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279289	NM_198236.3(ARHGEF11):c.424C>T (p.Pro142Ser)	ARHGEF11 (P142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385400	NM_198236.3(ARHGEF11):c.406C>A (p.Pro136Thr)	ARHGEF11 (P132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312988	NM_198236.3(ARHGEF11):c.338C>T (p.Ala113Val)	ARHGEF11 (A113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313016	NM_198236.3(ARHGEF11):c.329A>G (p.Lys110Arg)	ARHGEF11 (K106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025358	NM_198236.3(ARHGEF11):c.138C>G (p.Arg46=)	ARHGEF11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771314	NM_198236.3(ARHGEF11):c.135A>G (p.Gln45=)	ARHGEF11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685710	GRCh37/hg19 1q23.1(chr1:156996766-157144209)x1	ARHGEF11, ETV3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 88