LRRC71[gene] - ClinVar

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Items: 77

	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 2613403	NM_144702.3(LRRC71):c.56C>A (p.Thr19Asn)	LRRC71 (T19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342017	NM_144702.3(LRRC71):c.119C>T (p.Thr40Ile)	LRRC71 (T40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120906	NM_144702.3(LRRC71):c.175T>A (p.Ser59Thr)	LRRC71 (S59T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3291738	NM_144702.3(LRRC71):c.179G>C (p.Gly60Ala)	LRRC71 (G60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376178	NM_144702.3(LRRC71):c.205C>T (p.Leu69Phe)	LRRC71 (L69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291743	NM_144702.3(LRRC71):c.212C>A (p.Thr71Lys)	LRRC71 (T71K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215393	NM_144702.3(LRRC71):c.254C>G (p.Pro85Arg)	LRRC71 (P85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291735	NM_144702.3(LRRC71):c.280T>C (p.Ser94Pro)	LRRC71 (S94P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332298	NM_144702.3(LRRC71):c.353A>G (p.Glu118Gly)	LRRC71 (E118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120907	NM_144702.3(LRRC71):c.469G>A (p.Val157Ile)	LRRC71 (V157I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120908	NM_144702.3(LRRC71):c.541A>G (p.Lys181Glu)	LRRC71 (K181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206332	NM_144702.3(LRRC71):c.577T>C (p.Cys193Arg)	LRRC71 (C193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524023	NM_144702.3(LRRC71):c.597G>C (p.Lys199Asn)	LRRC71 (K199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282179	NM_144702.3(LRRC71):c.605T>A (p.Leu202Gln)	LRRC71 (L202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485616	NM_144702.3(LRRC71):c.611G>A (p.Gly204Glu)	LRRC71 (G204E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319595	NM_144702.3(LRRC71):c.647T>G (p.Met216Arg)	LRRC71 (M216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612042	NM_144702.3(LRRC71):c.668C>A (p.Ala223Glu)	LRRC71 (A223E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545326	NM_144702.3(LRRC71):c.722G>A (p.Gly241Asp)	LRRC71 (G241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120910	NM_144702.3(LRRC71):c.838C>G (p.Arg280Gly)	LRRC71 (R280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219422	NM_144702.3(LRRC71):c.880G>C (p.Asp294His)	LRRC71 (D294H)	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 3291742	NM_144702.3(LRRC71):c.940G>A (p.Val314Met)	LOC129931649, LRRC71 (V314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554854	NM_144702.3(LRRC71):c.1004C>T (p.Ser335Phe)	LRRC71 (S335F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291741	NM_144702.3(LRRC71):c.1028C>T (p.Thr343Met)	LRRC71 (T343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458430	NM_144702.3(LRRC71):c.1094C>T (p.Thr365Met)	LRRC71 (T365M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274316	NM_144702.3(LRRC71):c.1167G>T (p.Glu389Asp)	LRRC71 (E389D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371362	NM_144702.3(LRRC71):c.1202C>A (p.Thr401Asn)	LRRC71 (T401N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120903	NM_144702.3(LRRC71):c.1247C>T (p.Thr416Ile)	LRRC71 (T416I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548274	NM_144702.3(LRRC71):c.1268G>A (p.Ser423Asn)	LRRC71 (S423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291736	NM_144702.3(LRRC71):c.1277A>G (p.Lys426Arg)	LRRC71 (K426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543163	NM_144702.3(LRRC71):c.1394A>C (p.Lys465Thr)	LRRC71 (K465T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120904	NM_144702.3(LRRC71):c.1399T>C (p.Phe467Leu)	LRRC71 (F467L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513243	NM_144702.3(LRRC71):c.1414A>G (p.Lys472Glu)	LRRC71 (K472E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259740	NM_144702.3(LRRC71):c.1447C>A (p.Arg483Ser)	LRRC71 (R483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291740	NM_144702.3(LRRC71):c.1450A>C (p.Ile484Leu)	LRRC71 (I484L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120905	NM_144702.3(LRRC71):c.1481C>G (p.Ala494Gly)	LRRC71 (A494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508252	NM_144702.3(LRRC71):c.1530G>C (p.Lys510Asn)	LRRC71 (K510N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291739	NM_144702.3(LRRC71):c.1568A>C (p.Asn523Thr)	LRRC71 (N523T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476232	NM_144702.3(LRRC71):c.1631C>T (p.Pro544Leu)	LRRC71 (P544L)	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 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 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 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 1341236	GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1	CRABP2, HDGF +9 more	Copy number loss	not provided	GUncertain significance
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: 77