"Baylor Genetics"[submitter] AND "MRE11"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 479732	NM_005591.4(MRE11):c.2124A>G (p.Arg708=)	MRE11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 186502	NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup)	MRE11	Microsatellite (inframe_insertion)	Ataxia-telangiectasia-like disorder +3 more	GUncertain significance
Select item 3239752	NM_005591.4(MRE11):c.2083G>C (p.Asp695His)	MRE11 (D667H +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 3239748	NM_005591.4(MRE11):c.2080G>A (p.Asp694Asn)	MRE11 (D666N +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 184593	NM_005591.4(MRE11):c.2076T>A (p.Asp692Glu)	MRE11 (D692E +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 2676691	NM_005591.4(MRE11):c.2071-15T>A	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 186243	NM_005591.4(MRE11):c.2070+2T>A	MRE11	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia-like disorder +3 more	GConflicting classifications of pathogenicity
Select item 1799793	NM_005591.4(MRE11):c.2035C>T (p.Gln679Ter)	MRE11 (Q651* +2 more)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1 +1 more	GUncertain significance
Select item 483605	NM_005591.4(MRE11):c.2033G>A (p.Ser678Asn)	MRE11 (S678N +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 2676686	NM_005591.4(MRE11):c.2029C>T (p.Gln677Ter)	MRE11 (Q649* +2 more)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1 +1 more	GConflicting classifications of pathogenicity
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 481761	NM_005591.4(MRE11):c.1927-1G>T	MRE11	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 141533	NM_005591.4(MRE11):c.1927-2A>G	MRE11	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GLikely pathogenic
Select item 2676684	NM_005591.4(MRE11):c.1916A>C (p.Asn639Thr)	MRE11 (N611T +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GUncertain significance
Select item 663369	NM_005591.4(MRE11):c.1913A>T (p.Lys638Met)	MRE11 (K637M +2 more)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 479731	NM_005591.4(MRE11):c.1898G>A (p.Arg633Gln)	MRE11 (R633Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 1681558	NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)	MRE11 (Q602* +2 more)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 820248	NM_005591.4(MRE11):c.1882A>T (p.Arg628Ter)	MRE11 (R600* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 820219	NM_005591.4(MRE11):c.1868-5T>C	MRE11	Single nucleotide variant (intron variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GConflicting classifications of pathogenicity
Select item 187174	NM_005591.4(MRE11):c.1867+2T>C	MRE11	Single nucleotide variant (splice donor variant +1 more)	Ataxia-telangiectasia-like disorder +2 more	GPathogenic/Likely pathogenic
Select item 2676702	NM_005591.4(MRE11):c.1798del (p.Glu600fs)	MRE11 (E599fs +1 more)	Deletion (frameshift variant +1 more)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 1799595	NM_005591.4(MRE11):c.1783+1G>A	MRE11	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GLikely pathogenic
Select item 2676693	NM_005591.4(MRE11):c.1775G>A (p.Arg592Lys)	MRE11 (R592K)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GUncertain significance
Select item 481760	NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr)	MRE11 (A585T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 2676679	NM_005591.4(MRE11):c.1744_1747dup (p.Asn583fs)	MRE11 (N583fs)	Duplication (frameshift variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 220076	NM_005591.4(MRE11):c.1736G>A (p.Gly579Glu)	MRE11 (G579E)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 819924	NM_005591.4(MRE11):c.1729A>G (p.Arg577Gly)	MRE11 (R577G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186717	NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly)	MRE11 (R576G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +6 more	GUncertain significance
Select item 184445	NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)	MRE11 (R576*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1 +3 more	GPathogenic
Select item 220769	NM_005591.4(MRE11):c.1724G>A (p.Gly575Asp)	MRE11 (G575D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 185085	NM_005591.4(MRE11):c.1715G>A (p.Arg572Gln)	MRE11 (R572Q)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 8784	NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	MRE11 (R572*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 142425	NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)	MRE11 (N556S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +3 more	GConflicting classifications of pathogenicity
Select item 142542	NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)	MRE11 (I548T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +4 more	GConflicting classifications of pathogenicity
Select item 233090	NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)	MRE11 (L545fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder +2 more	GPathogenic/Likely pathogenic
Select item 3239751	NM_005591.4(MRE11):c.1598C>A (p.Ser533Ter)	MRE11 (S533*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 1799863	NM_005591.4(MRE11):c.1596G>C (p.Gln532His)	MRE11 (Q532H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GUncertain significance
Select item 185426	NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys)	MRE11 (R525K)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 1067255	NM_005591.4(MRE11):c.1563+1G>A	MRE11	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia-like disorder +1 more	GConflicting classifications of pathogenicity
Select item 481755	NM_005591.4(MRE11):c.1555G>T (p.Val519Phe)	MRE11 (V519F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 2676688	NM_005591.4(MRE11):c.1545del (p.Asp516fs)	MRE11 (D516fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 1799665	NM_005591.4(MRE11):c.1532dup (p.Asn511fs)	MRE11 (N511fs)	Duplication (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GPathogenic/Likely pathogenic
Select item 186164	NM_005591.4(MRE11):c.1516G>A (p.Glu506Lys)	MRE11 (E506K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 140941	NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)	MRE11 (E506*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder +3 more	GPathogenic/Likely pathogenic
Select item 220556	NM_005591.4(MRE11):c.1508G>A (p.Arg503His)	MRE11 (R503H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +3 more	GUncertain significance
Select item 142153	NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)	MRE11 (R502C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 186707	NM_005591.4(MRE11):c.1499A>T (p.Glu500Val)	MRE11 (E500V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +3 more	GUncertain significance
Select item 481768	NM_005591.4(MRE11):c.1496A>T (p.Glu499Val)	MRE11 (E499V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 229851	NM_005591.4(MRE11):c.1496A>G (p.Glu499Gly)	MRE11 (E499G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 186706	NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg)	MRE11 (L493R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +3 more	GUncertain significance
Select item 231931	NM_005591.4(MRE11):c.1475C>T (p.Ala492Val)	MRE11 (A492V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
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 184056	NM_005591.4(MRE11):c.1463G>A (p.Arg488His)	MRE11 (R488H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 2676681	NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)	MRE11 (K486fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 479762	NM_005591.4(MRE11):c.1456A>G (p.Lys486Glu)	MRE11 (K486E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231449	NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)	MRE11 (R483*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1 +2 more	GPathogenic/Likely pathogenic
Select item 1800330	NM_005591.4(MRE11):c.1441dup (p.Thr481fs)	MRE11 (T481fs)	Duplication (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GPathogenic/Likely pathogenic
Select item 216095	NM_005591.4(MRE11):c.1441del (p.Thr481fs)	MRE11 (T481fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 216608	NM_005591.4(MRE11):c.1418T>C (p.Leu473Ser)	MRE11 (L473S)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 1681582	NM_005591.4(MRE11):c.1383T>G (p.Phe461Leu)	MRE11 (F461L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GUncertain significance
Select item 534778	NM_005591.4(MRE11):c.1369G>A (p.Ala457Thr)	MRE11 (A457T)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GUncertain significance
Select item 2676683	NM_005591.4(MRE11):c.1356_1357del (p.Gly453fs)	MRE11 (G453fs)	Microsatellite (frameshift variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 142523	NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg)	MRE11 (Q445R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +3 more	GUncertain significance
Select item 2676703	NM_005591.4(MRE11):c.1327-1del	MRE11	Deletion (splice acceptor variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 240184	NM_005591.4(MRE11):c.1327-2A>G	MRE11	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia-like disorder +2 more	GLikely pathogenic
Select item 2676701	NM_005591.4(MRE11):c.1326+2T>C	MRE11	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 818938	NM_005591.4(MRE11):c.1326+2T>G	MRE11	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GLikely pathogenic
Select item 2676697	NM_005591.4(MRE11):c.1288G>T (p.Glu430Ter)	MRE11 (E430*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 142344	NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)	MRE11 (V429A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +5 more	GConflicting classifications of pathogenicity
Select item 1073861	NM_005591.4(MRE11):c.1280dup (p.Leu427fs)	MRE11 (L427fs)	Duplication (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GPathogenic/Likely pathogenic
Select item 485812	NM_005591.4(MRE11):c.1252dup (p.Ile418fs)	MRE11 (I418fs)	Duplication (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GPathogenic/Likely pathogenic
Select item 479741	NM_005591.4(MRE11):c.1253T>A (p.Ile418Asn)	MRE11 (I418N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GUncertain significance
Select item 818597	NM_005591.4(MRE11):c.1210C>T (p.Gln404Ter)	MRE11 (Q404*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1 +1 more	GPathogenic/Likely pathogenic
Select item 483623	NM_005591.4(MRE11):c.1195T>C (p.Phe399Leu)	MRE11 (F399L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 2676698	NM_005591.4(MRE11):c.1187del (p.Ile396fs)	MRE11 (I396fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 230401	NM_005591.4(MRE11):c.1180G>C (p.Asp394His)	MRE11 (D394H)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 664561	NM_005591.4(MRE11):c.1163G>C (p.Arg388Pro)	MRE11 (R388P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 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 187636	NM_005591.4(MRE11):c.1162C>T (p.Arg388Trp)	MRE11 (R388W)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 216094	NM_005591.4(MRE11):c.1143del (p.Phe381fs)	MRE11 (F381fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GPathogenic/Likely pathogenic
Select item 141307	NM_005591.4(MRE11):c.1139G>A (p.Arg380His)	MRE11 (R380H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 186193	NM_005591.4(MRE11):c.1135dup (p.Leu379fs)	MRE11 (L379fs)	Duplication (frameshift variant)	Ataxia-telangiectasia-like disorder 1 +1 more	GPathogenic/Likely pathogenic
Select item 1260482	NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)	MRE11 (V367fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 219926	NM_005591.4(MRE11):c.1129A>G (p.Ser377Gly)	MRE11 (S377G)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 2676685	NM_005591.4(MRE11):c.1127del (p.Phe376fs)	MRE11 (F376fs)	Deletion (frameshift variant)	Ataxia-telangiectasia-like disorder +1 more	GPathogenic/Likely pathogenic
Select item 2676695	NM_005591.4(MRE11):c.1098+1del	MRE11	Deletion (splice donor variant)	Ataxia-telangiectasia-like disorder 1	GUncertain significance
Select item 2676692	NM_005591.4(MRE11):c.1098+1G>T	MRE11	Single nucleotide variant (splice donor variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 1681596	NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter)	MRE11 (R366*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder +2 more	GPathogenic/Likely pathogenic
Select item 466427	NM_005591.4(MRE11):c.1091G>T (p.Arg364Leu)	MRE11 (R364L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GUncertain significance
Select item 140953	NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)	MRE11 (R364*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 2676704	NM_005591.4(MRE11):c.1069C>T (p.Gln357Ter)	MRE11 (Q357*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 656574	NM_005591.4(MRE11):c.1058G>A (p.Gly353Asp)	MRE11 (G353D)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +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 185161	NM_005591.4(MRE11):c.1051C>T (p.Arg351Cys)	MRE11 (R351C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +3 more	GUncertain significance
Select item 220877	NM_005591.4(MRE11):c.1046G>A (p.Arg349Gln)	MRE11 (R349Q)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +3 more	GUncertain significance
Select item 232825	NM_005591.4(MRE11):c.1045C>T (p.Arg349Trp)	MRE11 (R349W)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +2 more	GUncertain significance
Select item 3239747	NM_005591.4(MRE11):c.1018-4_1018-2delinsGG	MRE11	Indel (splice acceptor variant)	Ataxia-telangiectasia-like disorder 1	GLikely pathogenic
Select item 447736	NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)	MRE11 (K339*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic

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