"GeneDx"[submitter] AND "MRE11"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 306450	NM_005591.4(MRE11):c.*2501A>G	MRE11	Single nucleotide variant (3 prime UTR variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GBenign
Select item 129622	NM_005591.4(MRE11):c.2092A>G (p.Met698Val)	MRE11 (M698V +2 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 223843	NM_005591.4(MRE11):c.2071-53G>T	MRE11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1219455	NM_005591.4(MRE11):c.2070+231del	MRE11	Deletion (intron variant)	not provided	GLikely benign
Select item 186158	NM_005591.4(MRE11):c.2049G>A (p.Gly683=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +2 more	GLikely benign
Select item 141995	NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu)	MRE11 (S681L +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 1282562	NM_005591.4(MRE11):c.1994+298G>C	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 221127	NM_005591.4(MRE11):c.1994+10G>A	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +4 more	GBenign
Select item 141025	NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	MRE11 (K633fs +2 more)	Duplication (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +3 more	GConflicting classifications of pathogenicity
Select item 1193454	NM_005591.4(MRE11):c.1926+195A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199082	NM_005591.4(MRE11):c.1926+102A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 8782	NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)	MRE11 (R633* +2 more)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1 +3 more	GPathogenic
Select item 1313602	NM_005591.4(MRE11):c.1889A>C (p.Gln630Pro)	MRE11 (Q602P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1232762	NM_005591.4(MRE11):c.1868-85_1868-84del	MRE11	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1292427	NM_005591.4(MRE11):c.1868-133C>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233205	NM_005591.4(MRE11):c.1868-273G>A	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216871	NM_005591.4(MRE11):c.1867+241T>C	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127978	NM_005591.4(MRE11):c.1843T>C (p.Ser615Pro)	MRE11 (S615P +1 more)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 127977	NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)	MRE11 (R604P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 127976	NM_005591.4(MRE11):c.1811G>A (p.Arg604His)	MRE11 (R604H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1264255	NM_005591.4(MRE11):c.1784-66A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242478	NM_005591.4(MRE11):c.1783+270C>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235473	NM_005591.4(MRE11):c.1783+119A>C	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 127975	NM_005591.4(MRE11):c.1783+5G>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +5 more	GConflicting classifications of pathogenicity
Select item 127974	NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)	MRE11 (R576Q)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 127973	NM_005591.4(MRE11):c.1564G>A (p.Ala522Thr)	MRE11 (A522T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223007	NM_005591.4(MRE11):c.1564-251_1564-250dup	MRE11	Duplication (intron variant)	not provided	GBenign
Select item 1212731	NM_005591.4(MRE11):c.1564-251_1564-249dup	MRE11	Duplication (intron variant)	not provided	GLikely benign
Select item 1183481	NM_005591.4(MRE11):c.1564-251dup	MRE11	Duplication (intron variant)	not provided	GBenign
Select item 1292459	NM_005591.4(MRE11):c.1564-228del	MRE11	Deletion (intron variant)	not provided	GBenign
Select item 1233702	NM_005591.4(MRE11):c.1564-286A>C	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203060	NM_005591.4(MRE11):c.1563+233A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 232638	NM_005591.4(MRE11):c.1505G>A (p.Arg502His)	MRE11 (R502H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1281164	NM_005591.4(MRE11):c.1501-178del	MRE11	Deletion (intron variant)	not provided	GBenign
Select item 1215180	NM_005591.4(MRE11):c.1501-219G>A	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127030	NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)	MRE11 (E494K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127031	NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)	MRE11 (A492D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127972	NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys)	MRE11 (R488C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1231486	NM_005591.4(MRE11):c.1327-273T>C	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220838	NM_005591.4(MRE11):c.1326+235_1326+237del	MRE11	Microsatellite (intron variant)	not provided	GBenign
Select item 1271315	NM_005591.4(MRE11):c.1326+99T>A	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223845	NM_005591.4(MRE11):c.1326+93G>T	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 185166	NM_005591.4(MRE11):c.1318G>A (p.Ala440Thr)	MRE11 (A440T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1700997	NM_005591.4(MRE11):c.1311T>A (p.Phe437Leu)	MRE11 (F437L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1191291	NM_005591.4(MRE11):c.1226-53A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225009	NM_005591.4(MRE11):c.1226-101C>A	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228344	NM_005591.4(MRE11):c.1226-255C>T	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223146	NM_005591.4(MRE11):c.1225+333T>C	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189077	NM_005591.4(MRE11):c.1225+224G>A	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196319	NM_005591.4(MRE11):c.1225+124_1225+137dup	MRE11	Duplication (intron variant)	not provided	GLikely benign
Select item 1291204	NM_005591.4(MRE11):c.1225+39A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206983	NM_005591.4(MRE11):c.1225+27A>G	MRE11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1250380	NM_005591.4(MRE11):c.1225+23G>T	MRE11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 193884	NM_005591.4(MRE11):c.1225+19T>C	MRE11	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 127971	NM_005591.4(MRE11):c.1221A>C (p.Lys407Asn)	MRE11 (K407N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 232274	NM_005591.4(MRE11):c.1169C>T (p.Ala390Val)	MRE11 (A390V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127969	NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln)	MRE11 (R388Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1227451	NM_005591.4(MRE11):c.1099-26G>C	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1209372	NM_005591.4(MRE11):c.1099-105C>G	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205730	NM_005591.4(MRE11):c.1099-118_1099-115del	MRE11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1260226	NM_005591.4(MRE11):c.1099-163G>A	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 127032	NM_005591.4(MRE11):c.1099-217A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229092	NM_005591.4(MRE11):c.1098+289G>C	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194086	NM_005591.4(MRE11):c.1098+215G>T	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240796	NM_005591.4(MRE11):c.1098+212T>C	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273871	NM_005591.4(MRE11):c.1098+204C>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140776	NM_005591.4(MRE11):c.1098+17T>C	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 186775	NM_005591.4(MRE11):c.1090C>A (p.Arg364=)	MRE11	Single nucleotide variant (synonymous variant)	Ataxia-telangiectasia-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 127968	NM_005591.4(MRE11):c.1090C>G (p.Arg364Gly)	MRE11 (R364G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 127967	NM_005591.4(MRE11):c.1052G>A (p.Arg351His)	MRE11 (R351H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 140846	NM_005591.4(MRE11):c.1032T>G (p.Leu344=)	MRE11	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1292488	NM_005591.4(MRE11):c.1017+284C>T	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 140946	NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)	MRE11 (S334R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +5 more	GBenign
Select item 182551	NM_005591.4(MRE11):c.969A>G (p.Pro323=)	MRE11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 479780	NM_005591.4(MRE11):c.931G>T (p.Asp311Tyr)	MRE11 (D311Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 127989	NM_005591.4(MRE11):c.913C>T (p.Arg305Trp)	MRE11 (R305W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 127988	NM_005591.4(MRE11):c.846-12T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder +2 more	GConflicting classifications of pathogenicity
Select item 1229254	NM_005591.4(MRE11):c.846-60T>A	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199500	NM_005591.4(MRE11):c.845+267G>T	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182546	NM_005591.4(MRE11):c.845+110C>A	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 182550	NM_005591.4(MRE11):c.845+11T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GBenign/Likely benign
Select item 1312331	NM_005591.4(MRE11):c.845+6T>G	MRE11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 485811	NM_005591.4(MRE11):c.835G>C (p.Ala279Pro)	MRE11 (A279P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +3 more	GUncertain significance
Select item 1302091	NM_005591.4(MRE11):c.829G>C (p.Gly277Arg)	MRE11 (G277R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 182549	NM_005591.4(MRE11):c.822T>C (p.Leu274=)	MRE11	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 127987	NM_005591.4(MRE11):c.818C>G (p.Ser273Cys)	MRE11 (S273C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +4 more	GUncertain significance
Select item 452794	NM_005591.4(MRE11):c.788T>C (p.Ile263Thr)	MRE11 (I263T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 182548	NM_005591.4(MRE11):c.771A>G (p.Glu257=)	MRE11	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 141911	NM_005591.4(MRE11):c.729G>C (p.Trp243Cys)	MRE11 (W243C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +3 more	GUncertain significance
Select item 1239109	NM_005591.4(MRE11):c.660-309A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197592	NM_005591.4(MRE11):c.659+203A>T	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253029	NM_005591.4(MRE11):c.659+107A>G	MRE11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210743	NM_005591.4(MRE11):c.659+79A>C	MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213592	NM_005591.4(MRE11):c.659+30C>G	MRE11	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 127986	NM_005591.4(MRE11):c.653A>G (p.Gln218Arg)	MRE11 (Q218R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 8786	NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)	MRE11 (W210C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 182554	NM_005591.4(MRE11):c.627_628del (p.Trp210fs)	MRE11 (W210fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 127985	NM_005591.4(MRE11):c.604A>G (p.Arg202Gly)	MRE11 (R202G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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