Related gene-specific medical variations for Gene (Select 149499) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3291742	NM_144702.3(LRRC71):c.940G>A (p.Val314Met)	LOC129931649, LRRC71 (V314M)	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 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 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 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 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 3120911	NM_144702.3(LRRC71):c.932A>G (p.His311Arg)	LOC129931649, LRRC71 (H311R)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 727976	NM_198236.3(ARHGEF11):c.4193-6G>C	ARHGEF11, LRRC71	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Links from Gene

Items: 29