NM_005591.4(MRE11):c.820C>T (p.Leu274Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561002] |
Chr11:94471599 [GRCh38] Chr11:94204765 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1379A>G (p.Glu460Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757185]|Hereditary cancer-predisposing syndrome [RCV000563508] |
Chr11:94459529 [GRCh38] Chr11:94192695 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.139G>T (p.Ala47Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561468] |
Chr11:94490847 [GRCh38] Chr11:94224013 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2080G>C (p.Asp694His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563649] |
Chr11:94420172 [GRCh38] Chr11:94153338 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.291G>A (p.Gln97=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000525869]|Hereditary cancer-predisposing syndrome [RCV000569581] |
Chr11:94485947 [GRCh38] Chr11:94219113 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.942A>G (p.Leu314=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232139]|Hereditary cancer-predisposing syndrome [RCV000561774] |
Chr11:94470546 [GRCh38] Chr11:94203712 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.573A>C (p.Arg191=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591753]|Hereditary cancer-predisposing syndrome [RCV000563994]|not specified [RCV003987609] |
Chr11:94476375 [GRCh38] Chr11:94209541 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.923T>C (p.Phe308Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566860] |
Chr11:94470565 [GRCh38] Chr11:94203731 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.9:g.(?_94209449)_(94212048_?)dup |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV000528294]|Ataxia-telangiectasia-like disorder [RCV001379841] |
Chr11:94476283..94478882 [GRCh38] Chr11:94209449..94212048 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1479C>T (p.Leu493=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002527985]|Hereditary cancer-predisposing syndrome [RCV000566306] |
Chr11:94459429 [GRCh38] Chr11:94192595 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1278T>C (p.Thr426=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569245] |
Chr11:94460984 [GRCh38] Chr11:94194150 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2007A>G (p.Thr669=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231528]|Hereditary cancer-predisposing syndrome [RCV000565894]|not specified [RCV000780434] |
Chr11:94429974 [GRCh38] Chr11:94163140 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1099G>T (p.Val367Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005010536]|Hereditary cancer-predisposing syndrome [RCV000566002] |
Chr11:94464239 [GRCh38] Chr11:94197405 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1843_1848del (p.Ser615_Arg616del) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000568026] |
Chr11:94445829..94445834 [GRCh38] Chr11:94178995..94179000 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.818C>T (p.Ser273Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568031] |
Chr11:94471601 [GRCh38] Chr11:94204767 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1201C>T (p.His401Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757186]|Hereditary cancer-predisposing syndrome [RCV000564041] |
Chr11:94464137 [GRCh38] Chr11:94197303 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001783013]|Ataxia-telangiectasia-like disorder [RCV002527494]|Hereditary cancer-predisposing syndrome [RCV000561055]|not provided [RCV000516990] |
Chr11:94470473 [GRCh38] Chr11:94203639 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1987G>A (p.Asp663Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232140]|Hereditary cancer-predisposing syndrome [RCV000564245] |
Chr11:94435839 [GRCh38] Chr11:94169005 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.858G>T (p.Leu286Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002526911]|Hereditary cancer-predisposing syndrome [RCV000566374] |
Chr11:94470630 [GRCh38] Chr11:94203796 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232642]|Hereditary breast ovarian cancer syndrome [RCV002222551]|Hereditary cancer-predisposing syndrome [RCV000564272] |
Chr11:94447231 [GRCh38] Chr11:94180397 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1868-9del |
deletion |
Ataxia-telangiectasia-like disorder [RCV000543257] |
Chr11:94437244 [GRCh38] Chr11:94170410 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.908C>T (p.Thr303Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001296475]|Hereditary cancer-predisposing syndrome [RCV000564511]|See cases [RCV002252168] |
Chr11:94470580 [GRCh38] Chr11:94203746 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1205G>C (p.Arg402Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232397]|Hereditary cancer-predisposing syndrome [RCV000564516] |
Chr11:94464133 [GRCh38] Chr11:94197299 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1582G>A (p.Ala528Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001361015]|Hereditary cancer-predisposing syndrome [RCV000566905] |
Chr11:94447420 [GRCh38] Chr11:94180586 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1501-8T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231808] |
Chr11:94456346 [GRCh38] Chr11:94189512 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.524A>G (p.Lys175Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005004249]|Hereditary cancer-predisposing syndrome [RCV000562732] |
Chr11:94478755 [GRCh38] Chr11:94211921 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.221C>A (p.Thr74Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569108]|Ataxia-telangiectasia-like disorder [RCV003767106]|Hereditary cancer-predisposing syndrome [RCV000565496]|not provided [RCV005000240] |
Chr11:94486017 [GRCh38] Chr11:94219183 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.894A>C (p.Lys298Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565685] |
Chr11:94470594 [GRCh38] Chr11:94203760 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000009327]|Ataxia-telangiectasia-like disorder [RCV001034660]|Hereditary cancer-predisposing syndrome [RCV000565698]|not provided [RCV004700210] |
Chr11:94437206 [GRCh38] Chr11:94170372 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000009328]|Ataxia-telangiectasia-like disorder [RCV001034646]|Hereditary cancer-predisposing syndrome [RCV000115917]|not provided [RCV000212557] |
Chr11:94479726 [GRCh38] Chr11:94212892 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000009329]|Ataxia-telangiectasia-like disorder [RCV000791361]|Hereditary cancer-predisposing syndrome [RCV000130661]|not provided [RCV001531123] |
Chr11:94447288 [GRCh38] Chr11:94180454 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000009330]|Ataxia-telangiectasia-like disorder [RCV003591623] |
Chr11:94459466 [GRCh38] Chr11:94192632 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000009331]|not provided [RCV000712327] |
Chr11:94476318 [GRCh38] Chr11:94209484 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.704A>G (p.Asp235Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561316] |
Chr11:94471715 [GRCh38] Chr11:94204881 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.120C>G (p.Leu40=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562296] |
Chr11:94490866 [GRCh38] Chr11:94224032 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1018-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563411] |
Chr11:94467894 [GRCh38] Chr11:94201060 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1622G>A (p.Ser541Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562857] |
Chr11:94447380 [GRCh38] Chr11:94180546 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1826A>G (p.Lys609Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561213] |
Chr11:94445851 [GRCh38] Chr11:94179017 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1897del (p.Arg633fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000564005] |
Chr11:94437206 [GRCh38] Chr11:94170372 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.906C>G (p.His302Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564258] |
Chr11:94470582 [GRCh38] Chr11:94203748 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1882A>C (p.Arg628=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001446544]|Hereditary cancer-predisposing syndrome [RCV000564333] |
Chr11:94437221 [GRCh38] Chr11:94170387 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.886A>C (p.Met296Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564086] |
Chr11:94470602 [GRCh38] Chr11:94203768 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.676A>G (p.Thr226Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569153]|Hereditary cancer-predisposing syndrome [RCV000561847] |
Chr11:94471743 [GRCh38] Chr11:94204909 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.983_985dup (p.Val328_Thr329insIle) |
duplication |
Ataxia-telangiectasia-like disorder [RCV001066694]|Hereditary cancer-predisposing syndrome [RCV000566110] |
Chr11:94470502..94470503 [GRCh38] Chr11:94203668..94203669 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.545-1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003459355]|Ataxia-telangiectasia-like disorder [RCV003757187]|Hereditary cancer-predisposing syndrome [RCV000566346]|not provided [RCV000992330] |
Chr11:94476404 [GRCh38] Chr11:94209570 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1085T>A (p.Leu362His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565298] |
Chr11:94467826 [GRCh38] Chr11:94200992 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1868-2A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566791] |
Chr11:94437237 [GRCh38] Chr11:94170403 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569106]|Ataxia-telangiectasia-like disorder [RCV002526785]|Hereditary cancer-predisposing syndrome [RCV000566920] |
Chr11:94486068 [GRCh38] Chr11:94219234 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1784-6T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231809] |
Chr11:94445899 [GRCh38] Chr11:94179065 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.870A>T (p.Lys290Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562674] |
Chr11:94470618 [GRCh38] Chr11:94203784 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1926+2_1926+5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV000562766] |
Chr11:94437172..94437175 [GRCh38] Chr11:94170338..94170341 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.545-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562964] |
Chr11:94476406 [GRCh38] Chr11:94209572 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563007] |
Chr11:94492799 [GRCh38] Chr11:94225965 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1781G>A (p.Arg594Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001065528]|Hereditary cancer-predisposing syndrome [RCV000563048] |
Chr11:94447221 [GRCh38] Chr11:94180387 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.5G>C (p.Ser2Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563074] |
Chr11:94492797 [GRCh38] Chr11:94225963 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2114G>T (p.Arg705Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565741] |
Chr11:94420138 [GRCh38] Chr11:94153304 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1185T>C (p.Ile395=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002526786]|Hereditary cancer-predisposing syndrome [RCV000567187]|not provided [RCV001662614] |
Chr11:94464153 [GRCh38] Chr11:94197319 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.831A>G (p.Gly277=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232400]|Hereditary cancer-predisposing syndrome [RCV000567427] |
Chr11:94471588 [GRCh38] Chr11:94204754 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1139G>C (p.Arg380Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561925] |
Chr11:94464199 [GRCh38] Chr11:94197365 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.909A>G (p.Thr303=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001212175]|Hereditary cancer-predisposing syndrome [RCV000565560] |
Chr11:94470579 [GRCh38] Chr11:94203745 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.342C>A (p.Gly114=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757190]|Hereditary cancer-predisposing syndrome [RCV000567491] |
Chr11:94479734 [GRCh38] Chr11:94212900 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.681C>G (p.Asn227Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001068353]|Hereditary cancer-predisposing syndrome [RCV000561701] |
Chr11:94471738 [GRCh38] Chr11:94204904 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1732G>T (p.Gly578Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232297]|Hereditary cancer-predisposing syndrome [RCV002461306] |
Chr11:94447270 [GRCh38] Chr11:94180436 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1102G>C (p.Asp368His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567958] |
Chr11:94464236 [GRCh38] Chr11:94197402 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.403-6_403-5delinsAT |
indel |
Ataxia-telangiectasia-like disorder [RCV001417898]|Hereditary cancer-predisposing syndrome [RCV002461307] |
Chr11:94478881..94478882 [GRCh38] Chr11:94212047..94212048 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.763A>G (p.Lys255Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232398]|Hereditary cancer-predisposing syndrome [RCV000562496] |
Chr11:94471656 [GRCh38] Chr11:94204822 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2042C>G (p.Ser681Trp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001062032]|Hereditary cancer-predisposing syndrome [RCV000566036] |
Chr11:94429939 [GRCh38] Chr11:94163105 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1183A>G (p.Ile395Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000531247]|Hereditary cancer-predisposing syndrome [RCV001010078] |
Chr11:94464155 [GRCh38] Chr11:94197321 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.654G>T (p.Gln218His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568322] |
Chr11:94476294 [GRCh38] Chr11:94209460 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.221C>G (p.Thr74Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568546] |
Chr11:94486017 [GRCh38] Chr11:94219183 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.826C>G (p.Pro276Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568573] |
Chr11:94471593 [GRCh38] Chr11:94204759 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2050G>A (p.Val684Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566481] |
Chr11:94429931 [GRCh38] Chr11:94163097 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1773_1774del (p.Gly593fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV005004251]|Hereditary cancer-predisposing syndrome [RCV000566492] |
Chr11:94447228..94447229 [GRCh38] Chr11:94180394..94180395 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.202T>C (p.Ser68Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232298] |
Chr11:94486036 [GRCh38] Chr11:94219202 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.149A>G (p.Asn50Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563215] |
Chr11:94490837 [GRCh38] Chr11:94224003 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.861G>C (p.Leu287=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563348] |
Chr11:94470627 [GRCh38] Chr11:94203793 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.*3T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563381] |
Chr11:94420122 [GRCh38] Chr11:94153288 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1274C>A (p.Thr425Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000563788]|not provided [RCV003237926] |
Chr11:94460988 [GRCh38] Chr11:94194154 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.310A>T (p.Ser104Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232090]|Hereditary breast ovarian cancer syndrome [RCV001030702]|Hereditary cancer-predisposing syndrome [RCV000567054] |
Chr11:94485928 [GRCh38] Chr11:94219094 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.794A>C (p.Gln265Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565002] |
Chr11:94471625 [GRCh38] Chr11:94204791 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1904T>G (p.Val635Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002530308]|Hereditary cancer-predisposing syndrome [RCV000565205]|not provided [RCV003482288] |
Chr11:94437199 [GRCh38] Chr11:94170365 [GRCh37] Chr11:11q21 |
likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.1305G>C (p.Gln435His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000561206] |
Chr11:94460957 [GRCh38] Chr11:94194123 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 |
copy number loss |
See cases [RCV000052710] |
Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3 |
pathogenic |
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 |
copy number loss |
See cases [RCV000052711] |
Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2 |
pathogenic |
NM_005591.4(MRE11):c.*1359T>C |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054452] |
Chr11:94418766 [GRCh38] Chr11:94151932 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.*2731G>A |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054453] |
Chr11:94417394 [GRCh38] Chr11:94150560 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.*570A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109826]|Malignant tumor of urinary bladder [RCV000054454] |
Chr11:94419555 [GRCh38] Chr11:94152721 [GRCh37] Chr11:11q21 |
uncertain significance|other |
NM_005591.4(MRE11):c.*631C>T |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054455] |
Chr11:94419494 [GRCh38] Chr11:94152660 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.-105-326A>T |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054456] |
Chr11:94493232 [GRCh38] Chr11:94226398 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.-105-387C>T |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054457] |
Chr11:94493293 [GRCh38] Chr11:94226459 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1098+1177G>A |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054458] |
Chr11:94466636 [GRCh38] Chr11:94199802 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1098+1408A>G |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054459] |
Chr11:94466405 [GRCh38] Chr11:94199571 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1098+1620T>C |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054460] |
Chr11:94466193 [GRCh38] Chr11:94199359 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1098+614C>T |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054461] |
Chr11:94467199 [GRCh38] Chr11:94200365 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1202A>G (p.His401Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000791374]|Hereditary cancer-predisposing syndrome [RCV000459053]|Malignant tumor of urinary bladder [RCV000054462] |
Chr11:94464136 [GRCh38] Chr11:94197302 [GRCh37] Chr11:11q21 |
uncertain significance|other |
NM_005591.4(MRE11):c.1225+40T>C |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054463] |
Chr11:94464073 [GRCh38] Chr11:94197239 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1225+572A>T |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054464] |
Chr11:94463541 [GRCh38] Chr11:94196707 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1225+577A>C |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054465] |
Chr11:94463536 [GRCh38] Chr11:94196702 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1225+605T>C |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054466] |
Chr11:94463508 [GRCh38] Chr11:94196674 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1225+804T>C |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054467] |
Chr11:94463309 [GRCh38] Chr11:94196475 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1327-461A>C |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054468] |
Chr11:94460042 [GRCh38] Chr11:94193208 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1783+561G>A |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054469] |
Chr11:94446658 [GRCh38] Chr11:94179824 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1784-438A>G |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054470] |
Chr11:94446331 [GRCh38] Chr11:94179497 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.20+821G>A |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054471] |
Chr11:94491961 [GRCh38] Chr11:94225127 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.314+99A>G |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054472] |
Chr11:94485825 [GRCh38] Chr11:94218991 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.545-297G>T |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054473] |
Chr11:94476700 [GRCh38] Chr11:94209866 [GRCh37] Chr11:11q21 |
other |
NM_005591.4(MRE11):c.1563+281G>A |
single nucleotide variant |
Malignant tumor of urinary bladder [RCV000054487] |
Chr11:94455995 [GRCh38] Chr11:94189161 [GRCh37] Chr11:11q21 |
other |
NM_005591.3(MRE11A):c.1868-2403A>G |
single nucleotide variant |
Lung cancer [RCV000110449] |
Chr11:94439638 [GRCh38] Chr11:94172804 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*1933G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000278815]|not provided [RCV000114884] |
Chr11:94418192 [GRCh38] Chr11:94151358 [GRCh37] Chr11:93791006 [NCBI36] Chr11:11q21 |
uncertain significance|not provided |
NM_005591.4(MRE11):c.*1776C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000336118]|not provided [RCV000114885] |
Chr11:94418349 [GRCh38] Chr11:94151515 [GRCh37] Chr11:93791163 [NCBI36] Chr11:11q21 |
uncertain significance|not provided |
NM_005591.4(MRE11):c.*1746G>T |
single nucleotide variant |
not provided [RCV000114886] |
Chr11:94418379 [GRCh38] Chr11:94151545 [GRCh37] Chr11:93791193 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.*1228A>G |
single nucleotide variant |
not provided [RCV000114887] |
Chr11:94418897 [GRCh38] Chr11:94152063 [GRCh37] Chr11:93791711 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.*685C>T |
single nucleotide variant |
not provided [RCV000114888] |
Chr11:94419440 [GRCh38] Chr11:94152606 [GRCh37] Chr11:93792254 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.*656T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109824]|not provided [RCV000114889] |
Chr11:94419469 [GRCh38] Chr11:94152635 [GRCh37] Chr11:93792283 [NCBI36] Chr11:11q21 |
uncertain significance|not provided |
NM_005591.4(MRE11):c.*431G>T |
single nucleotide variant |
not provided [RCV000114890] |
Chr11:94419694 [GRCh38] Chr11:94152860 [GRCh37] Chr11:93792508 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.*214T>G |
single nucleotide variant |
not provided [RCV000114891] |
Chr11:94419911 [GRCh38] Chr11:94153077 [GRCh37] Chr11:93792725 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.1995-94G>A |
single nucleotide variant |
not provided [RCV000114892] |
Chr11:94430080 [GRCh38] Chr11:94163246 [GRCh37] Chr11:93802894 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.1995-111G>T |
single nucleotide variant |
not provided [RCV000114893] |
Chr11:94430097 [GRCh38] Chr11:94163263 [GRCh37] Chr11:93802911 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.1784-116C>G |
single nucleotide variant |
not provided [RCV000114894] |
Chr11:94446009 [GRCh38] Chr11:94179175 [GRCh37] Chr11:93818823 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.1500+168A>G |
single nucleotide variant |
not provided [RCV000114895] |
Chr11:94459240 [GRCh38] Chr11:94192406 [GRCh37] Chr11:93832054 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000524518]|Ataxia-telangiectasia-like disorder [RCV000791398]|Hereditary cancer-predisposing syndrome [RCV000131601]|not provided [RCV000114896]|not specified [RCV000781546] |
Chr11:94459428 [GRCh38] Chr11:94192594 [GRCh37] Chr11:93832242 [NCBI36] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000524517]|Ataxia-telangiectasia-like disorder [RCV001079570]|Hereditary breast ovarian cancer syndrome [RCV002225316]|Hereditary cancer-predisposing syndrome [RCV000115907]|not provided [RCV000114897]|not specified [RCV000193395] |
Chr11:94459433 [GRCh38] Chr11:94192599 [GRCh37] Chr11:93832247 [NCBI36] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided |
NM_005591.4(MRE11):c.1099-217A>G |
single nucleotide variant |
not provided [RCV000114898] |
Chr11:94464456 [GRCh38] Chr11:94197622 [GRCh37] Chr11:93837270 [NCBI36] Chr11:11q21 |
benign|not provided |
NM_005591.4(MRE11):c.1098+131A>C |
single nucleotide variant |
not provided [RCV000114899] |
Chr11:94467682 [GRCh38] Chr11:94200848 [GRCh37] Chr11:93840496 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.845+86G>A |
single nucleotide variant |
not provided [RCV000114900] |
Chr11:94471488 [GRCh38] Chr11:94204654 [GRCh37] Chr11:93844302 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.21-100T>A |
single nucleotide variant |
not provided [RCV000114901] |
Chr11:94491065 [GRCh38] Chr11:94224231 [GRCh37] Chr11:93863879 [NCBI36] Chr11:11q21 |
not provided |
NM_005591.4(MRE11):c.1052G>A (p.Arg351His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567024]|Ataxia-telangiectasia-like disorder [RCV000524508]|Hereditary cancer-predisposing syndrome [RCV000115901]|Ovarian cancer [RCV003153374]|not provided [RCV000212566]|not specified [RCV001194166] |
Chr11:94467859 [GRCh38] Chr11:94201025 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NM_005591.4(MRE11):c.1090C>G (p.Arg364Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228251]|Hereditary cancer-predisposing syndrome [RCV000220133]|not provided [RCV000115902] |
Chr11:94467821 [GRCh38] Chr11:94200987 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000765029]|Ataxia-telangiectasia-like disorder [RCV000791404]|Hereditary cancer-predisposing syndrome [RCV000115903]|not provided [RCV000212567] |
Chr11:94464175 [GRCh38] Chr11:94197341 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000313574]|Ataxia-telangiectasia-like disorder [RCV000858639]|Hereditary breast ovarian cancer syndrome [RCV002225330]|Hereditary cancer-predisposing syndrome [RCV000115904]|not provided [RCV001704015]|not specified [RCV000212553] |
Chr11:94490865 [GRCh38] Chr11:94224031 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1221A>C (p.Lys407Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008016]|Ataxia-telangiectasia-like disorder [RCV002512513]|Hereditary cancer-predisposing syndrome [RCV000575180]|not provided [RCV000115905] |
Chr11:94464117 [GRCh38] Chr11:94197283 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003224151]|Ataxia-telangiectasia-like disorder [RCV000524516]|Hereditary cancer-predisposing syndrome [RCV000115906]|not provided [RCV000212568] |
Chr11:94459446 [GRCh38] Chr11:94192612 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1564G>A (p.Ala522Thr) |
single nucleotide variant |
not provided [RCV000115908] |
Chr11:94447438 [GRCh38] Chr11:94180604 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133134]|Ataxia-telangiectasia-like disorder [RCV001079651]|Dystonic disorder [RCV000626883]|Hereditary cancer-predisposing syndrome [RCV000115909]|MRE11-related disorder [RCV003952557]|not provided [RCV000656868]|not specified [RCV001193484] |
Chr11:94447275 [GRCh38] Chr11:94180441 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1783+5G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001287216]|Ataxia-telangiectasia-like disorder [RCV001080166]|Hereditary breast ovarian cancer syndrome [RCV002225331]|Hereditary cancer-predisposing syndrome [RCV000115910]|MRE11-related disorder [RCV003935108]|not provided [RCV000589610]|not specified [RCV002477282] |
Chr11:94447214 [GRCh38] Chr11:94180380 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000411847]|Ataxia-telangiectasia-like disorder [RCV000791355]|Hereditary cancer-predisposing syndrome [RCV000115911]|not provided [RCV000212572]|not specified [RCV001778710] |
Chr11:94445866 [GRCh38] Chr11:94179032 [GRCh37] Chr11:11q21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000524525]|Hereditary cancer-predisposing syndrome [RCV000115912]|MRE11-related disorder [RCV003964972]|not provided [RCV000656869]|not specified [RCV000212571] |
Chr11:94445866 [GRCh38] Chr11:94179032 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_005591.4(MRE11):c.1843T>C (p.Ser615Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228252]|Hereditary cancer-predisposing syndrome [RCV000220070]|not provided [RCV000115913] |
Chr11:94445834 [GRCh38] Chr11:94179000 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.21-6_26del |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV000778135]|Ataxia-telangiectasia-like disorder [RCV001043632]|Hereditary cancer-predisposing syndrome [RCV000115914] |
Chr11:94490960..94490971 [GRCh38] Chr11:94224126..94224137 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000684785]|Ataxia-telangiectasia-like disorder [RCV000791353]|Hereditary cancer-predisposing syndrome [RCV000115915]|not provided [RCV000656866] |
Chr11:94485964 [GRCh38] Chr11:94219130 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.311G>C (p.Ser104Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003129778]|Ataxia-telangiectasia-like disorder [RCV000684797]|Hereditary cancer-predisposing syndrome [RCV000115916]|not provided [RCV000212556]|not specified [RCV004700424] |
Chr11:94485927 [GRCh38] Chr11:94219093 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.464G>A (p.Arg155His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005003474]|Ataxia-telangiectasia-like disorder [RCV001367130]|Hereditary cancer-predisposing syndrome [RCV000115918]|not provided [RCV000212558] |
Chr11:94478815 [GRCh38] Chr11:94211981 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000400887]|Ataxia-telangiectasia-like disorder [RCV000791435]|Hereditary breast ovarian cancer syndrome [RCV004760380]|Hereditary cancer-predisposing syndrome [RCV000115919]|MRE11-related disorder [RCV004742262]|not provided [RCV000656867]|not specified [RCV000212559] |
Chr11:94478750 [GRCh38] Chr11:94211916 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.545-9C>A |
single nucleotide variant |
not provided [RCV000115920] |
Chr11:94476412 [GRCh38] Chr11:94209578 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.604A>G (p.Arg202Gly) |
single nucleotide variant |
not provided [RCV000115921] |
Chr11:94476344 [GRCh38] Chr11:94209510 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.653A>G (p.Gln218Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001299595]|Hereditary cancer-predisposing syndrome [RCV000213766]|not provided [RCV000115922] |
Chr11:94476295 [GRCh38] Chr11:94209461 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000524539]|Ataxia-telangiectasia-like disorder [RCV000791444]|Hereditary cancer-predisposing syndrome [RCV000115923]|Ovarian neoplasm [RCV000415455]|not provided [RCV000212562]|not specified [RCV004800292] |
Chr11:94471601 [GRCh38] Chr11:94204767 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.846-12T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003114261]|Ataxia-telangiectasia-like disorder [RCV002228253]|not provided [RCV000115924] |
Chr11:94470654 [GRCh38] Chr11:94203820 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV002490781]|Ataxia-telangiectasia-like disorder [RCV000627767]|Hereditary cancer-predisposing syndrome [RCV000115925]|not provided [RCV000212563]|not specified [RCV003323403] |
Chr11:94470575 [GRCh38] Chr11:94203741 [GRCh37] Chr11:11q21 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000410760]|Ataxia-telangiectasia-like disorder [RCV001080129]|Hereditary breast ovarian cancer syndrome [RCV002225341]|Hereditary cancer-predisposing syndrome [RCV000128960]|not provided [RCV000712325]|not specified [RCV000117633] |
Chr11:94420160 [GRCh38] Chr11:94153326 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.403-6G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000277270]|Ataxia-telangiectasia-like disorder [RCV001081363]|Hereditary breast ovarian cancer syndrome [RCV002225342]|not provided [RCV000590098]|not specified [RCV000117634] |
Chr11:94478882 [GRCh38] Chr11:94212048 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.1225+19T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000412379]|Ataxia-telangiectasia-like disorder [RCV002228782]|Hereditary breast ovarian cancer syndrome [RCV002225492]|not provided [RCV000586234]|not specified [RCV000174111] |
Chr11:94464094 [GRCh38] Chr11:94197260 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.235T>C (p.Leu79=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002241664]|not provided [RCV003886500]|not specified [RCV001290519] |
Chr11:94486003 [GRCh38] Chr11:94219169 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.562A>G (p.Arg188Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002462904]|not specified [RCV001293554] |
Chr11:94476386 [GRCh38] Chr11:94209552 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 |
copy number loss |
See cases [RCV000133838] |
Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1 |
pathogenic |
NM_005591.4(MRE11):c.1501-4C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757151]|Hereditary cancer-predisposing syndrome [RCV000130012] |
Chr11:94456342 [GRCh38] Chr11:94189508 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1724G>T (p.Gly575Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113938]|Ataxia-telangiectasia-like disorder [RCV000684770]|Hereditary cancer-predisposing syndrome [RCV000130046]|not provided [RCV000712324] |
Chr11:94447278 [GRCh38] Chr11:94180444 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1927-2A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000988623]|Ataxia-telangiectasia-like disorder [RCV001376961]|Hereditary cancer-predisposing syndrome [RCV000130102] |
Chr11:94435901 [GRCh38] Chr11:94169067 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.923dup (p.Met309fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV003467131]|Hereditary cancer-predisposing syndrome [RCV000130113] |
Chr11:94470564..94470565 [GRCh38] Chr11:94203730..94203731 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112605]|Ataxia-telangiectasia-like disorder [RCV000524522]|Hereditary breast ovarian cancer syndrome [RCV002225429]|Hereditary cancer-predisposing syndrome [RCV000130116]|not specified [RCV000248684] |
Chr11:94447222 [GRCh38] Chr11:94180388 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1883G>A (p.Arg628Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133142]|Ataxia-telangiectasia-like disorder [RCV001347442]|Hereditary cancer-predisposing syndrome [RCV000130126]|not provided [RCV002478393]|not specified [RCV005055599] |
Chr11:94437220 [GRCh38] Chr11:94170386 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1609G>C (p.Ala537Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133143]|Hereditary cancer-predisposing syndrome [RCV000130134] |
Chr11:94447393 [GRCh38] Chr11:94180559 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.660-5T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005003488]|Ataxia-telangiectasia-like disorder [RCV000859008]|Hereditary cancer-predisposing syndrome [RCV000130199] |
Chr11:94471764 [GRCh38] Chr11:94204930 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1792G>T (p.Gly598Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228492]|Hereditary cancer-predisposing syndrome [RCV000130321] |
Chr11:94445885 [GRCh38] Chr11:94179051 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.508C>T (p.Gln170Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130478] |
Chr11:94478771 [GRCh38] Chr11:94211937 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.905A>G (p.His302Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000130504] |
Chr11:94470583 [GRCh38] Chr11:94203749 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.2070+5del |
deletion |
Ataxia-telangiectasia-like disorder [RCV000791450]|Hereditary cancer-predisposing syndrome [RCV000130516]|MRE11-related disorder [RCV003935222]|not specified [RCV004800294] |
Chr11:94429906 [GRCh38] Chr11:94163072 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.758C>T (p.Pro253Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567117]|Ataxia-telangiectasia-like disorder [RCV002228314]|Hereditary cancer-predisposing syndrome [RCV000130519]|not provided [RCV004998271] |
Chr11:94471661 [GRCh38] Chr11:94204827 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.3(MRE11):c.1226_1228delGAG |
deletion |
Ataxia-telangiectasia-like disorder [RCV000811398]|Hereditary cancer-predisposing syndrome [RCV000130595] |
Chr11:94461034..94461036 [GRCh38] Chr11:94194200..94194202 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1784-5A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757152]|Hereditary cancer-predisposing syndrome [RCV000130612] |
Chr11:94445898 [GRCh38] Chr11:94179064 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.729G>C (p.Trp243Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV002505112]|Ataxia-telangiectasia-like disorder [RCV002514732]|Hereditary cancer-predisposing syndrome [RCV000130619]|not provided [RCV001762303] |
Chr11:94471690 [GRCh38] Chr11:94204856 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000410737]|Ataxia-telangiectasia-like disorder [RCV001034669]|Hereditary cancer-predisposing syndrome [RCV000130759]|not provided [RCV001753515] |
Chr11:94429939 [GRCh38] Chr11:94163105 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.895A>T (p.Ile299Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467156]|Ataxia-telangiectasia-like disorder [RCV002512543]|Hereditary cancer-predisposing syndrome [RCV000130768]|not provided [RCV000757467] |
Chr11:94470593 [GRCh38] Chr11:94203759 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2054A>G (p.Asp685Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000684820]|Hereditary cancer-predisposing syndrome [RCV000130849]|MRE11-related disorder [RCV003390821] |
Chr11:94429927 [GRCh38] Chr11:94163093 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001292914]|Ataxia-telangiectasia-like disorder [RCV000642460]|Hereditary cancer-predisposing syndrome [RCV000130877]|not provided [RCV000994699]|not specified [RCV000781547] |
Chr11:94479685 [GRCh38] Chr11:94212851 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.94A>G (p.Arg32Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131000] |
Chr11:94490892 [GRCh38] Chr11:94224058 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1190A>C (p.His397Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133144]|Ataxia-telangiectasia-like disorder [RCV000700560]|Hereditary cancer-predisposing syndrome [RCV000131008]|MRE11-related disorder [RCV003415957] |
Chr11:94464148 [GRCh38] Chr11:94197314 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000381943]|Ataxia-telangiectasia-like disorder [RCV000791405]|Hereditary breast ovarian cancer syndrome [RCV002225441]|Hereditary cancer-predisposing syndrome [RCV000131015]|not provided [RCV001579337]|not specified [RCV001731391] |
Chr11:94456335 [GRCh38] Chr11:94189501 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467164]|Ataxia-telangiectasia-like disorder [RCV001220994]|Hereditary breast ovarian cancer syndrome [RCV001374545]|Hereditary cancer-predisposing syndrome [RCV000131177]|not provided [RCV000712326]|not specified [RCV001194167] |
Chr11:94478797 [GRCh38] Chr11:94211963 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.497C>T (p.Pro166Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467168]|Ataxia-telangiectasia-like disorder [RCV002228657]|Hereditary cancer-predisposing syndrome [RCV000131199]|not specified [RCV004700446] |
Chr11:94478782 [GRCh38] Chr11:94211948 [GRCh37] Chr11:11q21 |
pathogenic|uncertain significance |
NM_005591.4(MRE11):c.983T>G (p.Val328Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000542093]|Hereditary cancer-predisposing syndrome [RCV000131210] |
Chr11:94470505 [GRCh38] Chr11:94203671 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.845+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131228] |
Chr11:94471569 [GRCh38] Chr11:94204735 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1852A>G (p.Met618Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV002498644]|Ataxia-telangiectasia-like disorder [RCV002228662]|Hereditary cancer-predisposing syndrome [RCV000131401]|not provided [RCV003477551]|not specified [RCV000508182] |
Chr11:94445825 [GRCh38] Chr11:94178991 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133145]|Ataxia-telangiectasia-like disorder [RCV000524513]|Hereditary cancer-predisposing syndrome [RCV000131418]|MRE11-related disorder [RCV003398769]|not provided [RCV000517743]|not specified [RCV003235057] |
Chr11:94460976 [GRCh38] Chr11:94194142 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.471G>A (p.Met157Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131454] |
Chr11:94478808 [GRCh38] Chr11:94211974 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000515229]|Ataxia-telangiectasia-like disorder [RCV000791406]|Hereditary cancer-predisposing syndrome [RCV000131531]|MRE11-related disorder [RCV003945150]|not provided [RCV000994695] |
Chr11:94447335 [GRCh38] Chr11:94180501 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1238A>G (p.Asn413Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000376230]|Ataxia-telangiectasia-like disorder [RCV002228663]|Hereditary cancer-predisposing syndrome [RCV000131542]|not provided [RCV001289101] |
Chr11:94461024 [GRCh38] Chr11:94194190 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.239G>T (p.Arg80Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567140]|Ataxia-telangiectasia-like disorder [RCV000524529]|Hereditary cancer-predisposing syndrome [RCV000131578] |
Chr11:94485999 [GRCh38] Chr11:94219165 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.247T>G (p.Cys83Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000131608] |
Chr11:94485991 [GRCh38] Chr11:94219157 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.469A>G (p.Met157Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001114036]|Ataxia-telangiectasia-like disorder [RCV000524533]|Hereditary breast ovarian cancer syndrome [RCV001030700]|Hereditary cancer-predisposing syndrome [RCV000131610]|not provided [RCV003477552]|not specified [RCV004998277] |
Chr11:94478810 [GRCh38] Chr11:94211976 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1858A>G (p.Ile620Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000263891]|Ataxia-telangiectasia-like disorder [RCV001065906]|Hereditary cancer-predisposing syndrome [RCV000131613]|MRE11-related disorder [RCV003422026] |
Chr11:94445819 [GRCh38] Chr11:94178985 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112603]|Ataxia-telangiectasia-like disorder [RCV001081514]|Hereditary breast ovarian cancer syndrome [RCV002225446]|Hereditary cancer-predisposing syndrome [RCV000131661]|not provided [RCV000731881]|not specified [RCV000781549] |
Chr11:94445879 [GRCh38] Chr11:94179045 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467181]|Ataxia-telangiectasia-like disorder [RCV000700255]|Hereditary breast ovarian cancer syndrome [RCV001030701]|Hereditary cancer-predisposing syndrome [RCV000131662]|not provided [RCV004998279]|not specified [RCV002509243] |
Chr11:94478816 [GRCh38] Chr11:94211982 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000765027]|Ataxia-telangiectasia-like disorder [RCV002228505]|Hereditary cancer-predisposing syndrome [RCV000131699]|not provided [RCV000992324] |
Chr11:94459574 [GRCh38] Chr11:94192740 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113939]|Ataxia-telangiectasia-like disorder [RCV000627772]|Hereditary cancer-predisposing syndrome [RCV000131733]|not provided [RCV000518010]|not specified [RCV003323411] |
Chr11:94447359 [GRCh38] Chr11:94180525 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.981A>G (p.Lys327=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110707]|Ataxia-telangiectasia-like disorder [RCV002228667]|Hereditary cancer-predisposing syndrome [RCV000131792] |
Chr11:94470507 [GRCh38] Chr11:94203673 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.402G>C (p.Gly134=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001048349]|Hereditary cancer-predisposing syndrome [RCV000132092] |
Chr11:94479674 [GRCh38] Chr11:94212840 [GRCh37] Chr11:11q21 |
likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.826C>T (p.Pro276Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000627766]|Hereditary cancer-predisposing syndrome [RCV000132247]|not provided [RCV000992331] |
Chr11:94471593 [GRCh38] Chr11:94204759 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.661A>C (p.Ser221Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567074]|Ataxia-telangiectasia-like disorder [RCV000688365]|Hereditary cancer-predisposing syndrome [RCV000128911]|not provided [RCV004998251]|not specified [RCV003330498] |
Chr11:94471758 [GRCh38] Chr11:94204924 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098+17T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000409241]|Ataxia-telangiectasia-like disorder [RCV002228469]|Hereditary breast ovarian cancer syndrome [RCV002225420]|Hereditary cancer-predisposing syndrome [RCV000128913]|not provided [RCV000587873]|not specified [RCV000251662] |
Chr11:94467796 [GRCh38] Chr11:94200962 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.315-4del |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV000411119]|Ataxia-telangiectasia-like disorder [RCV001084852]|Hereditary cancer-predisposing syndrome [RCV000128995]|not provided [RCV000589770] |
Chr11:94479765 [GRCh38] Chr11:94212931 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.1032T>G (p.Leu344=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000410736]|Ataxia-telangiectasia-like disorder [RCV001081395]|Hereditary breast ovarian cancer syndrome [RCV002225423]|Hereditary cancer-predisposing syndrome [RCV000129049]|MRE11-related disorder [RCV003905227]|not provided [RCV000586471]|not specified [RCV000212565] |
Chr11:94467879 [GRCh38] Chr11:94201045 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.244T>C (p.Tyr82His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003460888]|Ataxia-telangiectasia-like disorder [RCV001339593]|Hereditary cancer-predisposing syndrome [RCV000129120] |
Chr11:94485994 [GRCh38] Chr11:94219160 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1972A>G (p.Thr658Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000524526]|Hereditary cancer-predisposing syndrome [RCV000132275]|not specified [RCV000517173] |
Chr11:94435854 [GRCh38] Chr11:94169020 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.496C>G (p.Pro166Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132279] |
Chr11:94478783 [GRCh38] Chr11:94211949 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.553C>G (p.Pro185Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000132439] |
Chr11:94476395 [GRCh38] Chr11:94209561 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1448G>A (p.Arg483Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228642]|Hereditary cancer-predisposing syndrome [RCV000129201] |
Chr11:94459460 [GRCh38] Chr11:94192626 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.845+2T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567080]|Ataxia-telangiectasia-like disorder [RCV002228305]|Hereditary cancer-predisposing syndrome [RCV000129209]|not provided [RCV000397709] |
Chr11:94471572 [GRCh38] Chr11:94204738 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000988624]|Ataxia-telangiectasia-like disorder [RCV000797374]|Hereditary cancer-predisposing syndrome [RCV000129216]|not provided [RCV000513255] |
Chr11:94456323 [GRCh38] Chr11:94189489 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000396813]|Ataxia-telangiectasia-like disorder [RCV001080118]|Hereditary breast ovarian cancer syndrome [RCV002225426]|Hereditary cancer-predisposing syndrome [RCV000129222]|not provided [RCV000589426]|not specified [RCV001289100] |
Chr11:94470486 [GRCh38] Chr11:94203652 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000662680]|Ataxia-telangiectasia-like disorder [RCV000791403]|Hereditary breast ovarian cancer syndrome [RCV002509233]|Hereditary cancer-predisposing syndrome [RCV000129234]|not provided [RCV001092185] |
Chr11:94467821 [GRCh38] Chr11:94200987 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1306T>C (p.Tyr436His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129343] |
Chr11:94460956 [GRCh38] Chr11:94194122 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1081C>G (p.Pro361Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129352] |
Chr11:94467830 [GRCh38] Chr11:94200996 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV000642448]|Ataxia-telangiectasia-like disorder [RCV001034650]|Hereditary cancer-predisposing syndrome [RCV000129354]|not provided [RCV001795249] |
Chr11:94435846..94435847 [GRCh38] Chr11:94169012..94169013 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008033]|Ataxia-telangiectasia-like disorder [RCV000524527]|Hereditary cancer-predisposing syndrome [RCV000129361]|not provided [RCV001799622]|not specified [RCV000780431] |
Chr11:94492783 [GRCh38] Chr11:94225949 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228644]|Hereditary cancer-predisposing syndrome [RCV000129396]|not provided [RCV000588212] |
Chr11:94447284 [GRCh38] Chr11:94180450 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.37T>A (p.Phe13Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001079597]|Hereditary cancer-predisposing syndrome [RCV000129638]|MRE11-related disorder [RCV003945144]|not provided [RCV000524531]|not specified [RCV000780432] |
Chr11:94490949 [GRCh38] Chr11:94224115 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1458A>C (p.Lys486Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002512531]|Hereditary cancer-predisposing syndrome [RCV000129640] |
Chr11:94459450 [GRCh38] Chr11:94192616 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1139G>A (p.Arg380His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467120]|Ataxia-telangiectasia-like disorder [RCV000524511]|Hereditary cancer-predisposing syndrome [RCV000129776]|not provided [RCV000992323]|not specified [RCV000780433] |
Chr11:94464199 [GRCh38] Chr11:94197365 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.526A>G (p.Ile176Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228649]|Hereditary cancer-predisposing syndrome [RCV000129836] |
Chr11:94478753 [GRCh38] Chr11:94211919 [GRCh37] Chr11:11q21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.305G>T (p.Gly102Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567100]|Ataxia-telangiectasia-like disorder [RCV000627765]|Hereditary cancer-predisposing syndrome [RCV000129920]|Premature ovarian insufficiency [RCV000766156] |
Chr11:94485933 [GRCh38] Chr11:94219099 [GRCh37] Chr11:11q21 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 11q21(chr11:94324282-96081666)x3 |
copy number gain |
See cases [RCV000134847] |
Chr11:94324282..96081666 [GRCh38] Chr11:94057448..95814830 [GRCh37] Chr11:93697096..95454478 [NCBI36] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.901C>G (p.Leu301Val) |
single nucleotide variant |
Triple-negative breast cancer [RCV000202377] |
Chr11:94470587 [GRCh38] Chr11:94203753 [GRCh37] Chr11:11q21 |
association |
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 |
copy number loss |
See cases [RCV000138038] |
Chr11:91086659..109595582 [GRCh38] Chr11:90819827..109466308 [GRCh37] Chr11:90459475..108971518 [NCBI36] Chr11:11q14.3-22.3 |
pathogenic |
NM_005591.4(MRE11):c.-95A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110007]|not specified [RCV000160569] |
Chr11:94492896 [GRCh38] Chr11:94226062 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NM_005591.4(MRE11):c.426C>T (p.Asp142=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000362540]|Ataxia-telangiectasia-like disorder [RCV001079573]|Hereditary cancer-predisposing syndrome [RCV000160570]|MRE11-related disorder [RCV003907494]|not provided [RCV000755569]|not specified [RCV000212554] |
Chr11:94478853 [GRCh38] Chr11:94212019 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_005591.4(MRE11):c.771A>G (p.Glu257=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112690]|Ataxia-telangiectasia-like disorder [RCV001080782]|Hereditary breast ovarian cancer syndrome [RCV002225463]|Hereditary cancer-predisposing syndrome [RCV000160571]|MRE11-related disorder [RCV003927528]|not provided [RCV000586751]|not specified [RCV000212560] |
Chr11:94471648 [GRCh38] Chr11:94204814 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005591.4(MRE11):c.822T>C (p.Leu274=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000396829]|Ataxia-telangiectasia-like disorder [RCV001079572]|Hereditary cancer-predisposing syndrome [RCV000160572]|not provided [RCV001531124]|not specified [RCV000212561] |
Chr11:94471597 [GRCh38] Chr11:94204763 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_005591.4(MRE11):c.845+11T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000411280]|Ataxia-telangiectasia-like disorder [RCV002229428]|not specified [RCV000160573] |
Chr11:94471563 [GRCh38] Chr11:94204729 [GRCh37] Chr11:11q21 |
benign|likely benign|uncertain significance |
NM_005591.4(MRE11):c.969A>G (p.Pro323=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000409014]|Ataxia-telangiectasia-like disorder [RCV001083858]|Hereditary cancer-predisposing syndrome [RCV000160574]|not provided [RCV000712329]|not specified [RCV000212564] |
Chr11:94470519 [GRCh38] Chr11:94203685 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005591.4(MRE11):c.120C>T (p.Leu40=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000524512]|Ataxia-telangiectasia-like disorder [RCV001080131]|Hereditary cancer-predisposing syndrome [RCV000160575]|not provided [RCV000857671]|not specified [RCV000212552] |
Chr11:94490866 [GRCh38] Chr11:94224032 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000684815]|Ataxia-telangiectasia-like disorder [RCV001034631]|Hereditary cancer-predisposing syndrome [RCV000160576]|not provided [RCV000761799]|not specified [RCV003317108] |
Chr11:94490909 [GRCh38] Chr11:94224075 [GRCh37] Chr11:11q21 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_005591.4(MRE11):c.627_628del (p.Trp210fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000160577] |
Chr11:94476320..94476321 [GRCh38] Chr11:94209486..94209487 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000157663]|Ataxia-telangiectasia-like disorder [RCV002229382]|Hereditary cancer-predisposing syndrome [RCV001011397] |
Chr11:94490846 [GRCh38] Chr11:94224012 [GRCh37] Chr11:11q21 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_005591.3:c.315-4insT |
insertion |
Hereditary cancer-predisposing syndrome [RCV000160568] |
Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.869A>G (p.Lys290Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164408] |
Chr11:94470619 [GRCh38] Chr11:94203785 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1715G>A (p.Arg572Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567244]|Ataxia-telangiectasia-like disorder [RCV000703355]|Hereditary breast ovarian cancer syndrome [RCV001030633]|Hereditary cancer-predisposing syndrome [RCV000164445] |
Chr11:94447287 [GRCh38] Chr11:94180453 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.201C>T (p.Pro67=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001497960]|Hereditary cancer-predisposing syndrome [RCV000164480]|not specified [RCV004998320] |
Chr11:94486037 [GRCh38] Chr11:94219203 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.634A>G (p.Asn212Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005055657]|Ataxia-telangiectasia-like disorder [RCV001308469]|Hereditary cancer-predisposing syndrome [RCV000164483] |
Chr11:94476314 [GRCh38] Chr11:94209480 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1051C>T (p.Arg351Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000336333]|Ataxia-telangiectasia-like disorder [RCV000791423]|Hereditary cancer-predisposing syndrome [RCV000164530]|not provided [RCV000994697] |
Chr11:94467860 [GRCh38] Chr11:94201026 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1318G>A (p.Ala440Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000802150]|Hereditary cancer-predisposing syndrome [RCV000164535]|MRE11-related disorder [RCV003416036]|not provided [RCV001753558] |
Chr11:94460944 [GRCh38] Chr11:94194110 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1024G>A (p.Glu342Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002515142]|Hereditary cancer-predisposing syndrome [RCV000164548]|not provided [RCV004998322] |
Chr11:94467887 [GRCh38] Chr11:94201053 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.912G>A (p.Val304=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001499616]|Hereditary cancer-predisposing syndrome [RCV000164568] |
Chr11:94470576 [GRCh38] Chr11:94203742 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.999A>G (p.Gln333=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000627777]|Hereditary cancer-predisposing syndrome [RCV000164611] |
Chr11:94470489 [GRCh38] Chr11:94203655 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.821_823delinsA (p.Leu274fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV000164635]|not provided [RCV004998325] |
Chr11:94471596..94471598 [GRCh38] Chr11:94204762..94204764 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1500G>C (p.Glu500Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164671] |
Chr11:94459408 [GRCh38] Chr11:94192574 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.228C>T (p.Leu76=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001425983]|Hereditary cancer-predisposing syndrome [RCV000164735]|not provided [RCV001701773] |
Chr11:94486010 [GRCh38] Chr11:94219176 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1834G>C (p.Val612Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000688783]|Hereditary cancer-predisposing syndrome [RCV000164799] |
Chr11:94445843 [GRCh38] Chr11:94179009 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000411963]|Ataxia-telangiectasia-like disorder [RCV001209800]|Hereditary cancer-predisposing syndrome [RCV000164850] |
Chr11:94447428 [GRCh38] Chr11:94180594 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.297C>T (p.Val99=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757156]|Hereditary cancer-predisposing syndrome [RCV000166806]|not provided [RCV004998354] |
Chr11:94485941 [GRCh38] Chr11:94219107 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1867+2T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001781515]|Ataxia-telangiectasia-like disorder [RCV001378979]|Hereditary cancer-predisposing syndrome [RCV000166874] |
Chr11:94445808 [GRCh38] Chr11:94178974 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.492T>C (p.Ile164=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000873443]|Hereditary cancer-predisposing syndrome [RCV000166917] |
Chr11:94478787 [GRCh38] Chr11:94211953 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.107C>T (p.Thr36Met) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000524510]|Hereditary cancer-predisposing syndrome [RCV000164951] |
Chr11:94490879 [GRCh38] Chr11:94224045 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.504_511del (p.Leu169fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003468726]|Ataxia-telangiectasia-like disorder [RCV001059474]|Hereditary cancer-predisposing syndrome [RCV000164971] |
Chr11:94478768..94478775 [GRCh38] Chr11:94211934..94211941 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1091G>A (p.Arg364Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228975]|Hereditary cancer-predisposing syndrome [RCV000166926] |
Chr11:94467820 [GRCh38] Chr11:94200986 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1671C>T (p.Asp557=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228976]|Hereditary cancer-predisposing syndrome [RCV000166949] |
Chr11:94447331 [GRCh38] Chr11:94180497 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2109_2117del (p.Leu703_Asn706delinsPhe) |
deletion |
Ataxia-telangiectasia-like disorder [RCV001041944]|Hereditary cancer-predisposing syndrome [RCV000166952] |
Chr11:94420135..94420143 [GRCh38] Chr11:94153301..94153309 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.188A>G (p.His63Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166963] |
Chr11:94486050 [GRCh38] Chr11:94219216 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.141C>T (p.Ala47=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001417159]|Hereditary cancer-predisposing syndrome [RCV000166965] |
Chr11:94490845 [GRCh38] Chr11:94224011 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.259C>T (p.Arg87Trp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468730]|Ataxia-telangiectasia-like disorder [RCV000524530]|Hereditary cancer-predisposing syndrome [RCV000165051]|not provided [RCV002472955] |
Chr11:94485979 [GRCh38] Chr11:94219145 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1639A>C (p.Ser547Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001222739]|Hereditary cancer-predisposing syndrome [RCV000167075] |
Chr11:94447363 [GRCh38] Chr11:94180529 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1336del (p.Leu446fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000167093] |
Chr11:94459572 [GRCh38] Chr11:94192738 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1559G>A (p.Arg520His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000684817]|Hereditary cancer-predisposing syndrome [RCV000167176] |
Chr11:94456280 [GRCh38] Chr11:94189446 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1563+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167177] |
Chr11:94456273 [GRCh38] Chr11:94189439 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1462C>G (p.Arg488Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228987]|Hereditary cancer-predisposing syndrome [RCV000167193]|not specified [RCV000518797] |
Chr11:94459446 [GRCh38] Chr11:94192612 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1586T>G (p.Leu529Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165191] |
Chr11:94447416 [GRCh38] Chr11:94180582 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1476C>T (p.Ala492=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001494723]|Hereditary cancer-predisposing syndrome [RCV000165196]|not provided [RCV003390869]|not specified [RCV001194168] |
Chr11:94459432 [GRCh38] Chr11:94192598 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.534A>G (p.Leu178=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000537858]|Hereditary cancer-predisposing syndrome [RCV000165247]|not provided [RCV003390870]|not specified [RCV002281984] |
Chr11:94478745 [GRCh38] Chr11:94211911 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.106A>G (p.Thr36Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468737]|Ataxia-telangiectasia-like disorder [RCV000687085]|Hereditary cancer-predisposing syndrome [RCV000165274] |
Chr11:94490880 [GRCh38] Chr11:94224046 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.315-14dup |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV000410959]|Ataxia-telangiectasia-like disorder [RCV001081372]|Hereditary cancer-predisposing syndrome [RCV000162501]|not provided [RCV000588749]|not specified [RCV001288239] |
Chr11:94479764..94479765 [GRCh38] Chr11:94212930..94212931 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.1275A>C (p.Thr425=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109911]|Ataxia-telangiectasia-like disorder [RCV001401844]|Hereditary cancer-predisposing syndrome [RCV000162504] |
Chr11:94460987 [GRCh38] Chr11:94194153 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1887G>A (p.Gln629=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000162763] |
Chr11:94437216 [GRCh38] Chr11:94170382 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.531G>C (p.Ala177=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165463] |
Chr11:94478748 [GRCh38] Chr11:94211914 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.154-5A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001429101]|Hereditary cancer-predisposing syndrome [RCV000165478] |
Chr11:94486089 [GRCh38] Chr11:94219255 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.880A>G (p.Met294Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003462178]|Ataxia-telangiectasia-like disorder [RCV002228746]|Hereditary cancer-predisposing syndrome [RCV000165543]|not provided [RCV004998335] |
Chr11:94470608 [GRCh38] Chr11:94203774 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2115A>G (p.Arg705=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001455507]|Hereditary cancer-predisposing syndrome [RCV000162832] |
Chr11:94420137 [GRCh38] Chr11:94153303 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.303T>C (p.Phe101=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001398311]|Hereditary cancer-predisposing syndrome [RCV000162835]|not provided [RCV003390864] |
Chr11:94485935 [GRCh38] Chr11:94219101 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2052T>C (p.Val684=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001078742]|Hereditary cancer-predisposing syndrome [RCV000163045]|not provided [RCV000859425] |
Chr11:94429929 [GRCh38] Chr11:94163095 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.1097G>A (p.Arg366Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000529843]|Ataxia-telangiectasia-like disorder [RCV002228560]|Hereditary cancer-predisposing syndrome [RCV000163072] |
Chr11:94467814 [GRCh38] Chr11:94200980 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1880C>T (p.Thr627Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229432]|Hereditary cancer-predisposing syndrome [RCV000167233] |
Chr11:94437223 [GRCh38] Chr11:94170389 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.690A>G (p.Pro230=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000627776]|Hereditary cancer-predisposing syndrome [RCV000167241]|not provided [RCV003390875] |
Chr11:94471729 [GRCh38] Chr11:94204895 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1757C>T (p.Ser586Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000812588]|Hereditary cancer-predisposing syndrome [RCV000165607]|MRE11-related disorder [RCV004742293] |
Chr11:94447245 [GRCh38] Chr11:94180411 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1200G>T (p.Arg400Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001057295]|Hereditary cancer-predisposing syndrome [RCV000165663] |
Chr11:94464138 [GRCh38] Chr11:94197304 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2049G>A (p.Gly683=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000642471]|Hereditary cancer-predisposing syndrome [RCV000165700]|not provided [RCV001288237] |
Chr11:94429932 [GRCh38] Chr11:94163098 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1516G>A (p.Glu506Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468753]|Hereditary cancer-predisposing syndrome [RCV000165707] |
Chr11:94456323 [GRCh38] Chr11:94189489 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1203T>C (p.His401=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000859257]|Hereditary cancer-predisposing syndrome [RCV000165712]|not provided [RCV004584618] |
Chr11:94464135 [GRCh38] Chr11:94197301 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1135dup (p.Leu379fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV004567282]|Hereditary cancer-predisposing syndrome [RCV000165739] |
Chr11:94464202..94464203 [GRCh38] Chr11:94197368..94197369 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1463G>A (p.Arg488His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000289892]|Ataxia-telangiectasia-like disorder [RCV000791399]|Hereditary cancer-predisposing syndrome [RCV000163173] |
Chr11:94459445 [GRCh38] Chr11:94192611 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.485T>C (p.Ile162Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468807]|Ataxia-telangiectasia-like disorder [RCV001059451]|Hereditary cancer-predisposing syndrome [RCV000167314]|not provided [RCV004998358] |
Chr11:94478794 [GRCh38] Chr11:94211960 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.835G>A (p.Ala279Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167334] |
Chr11:94471584 [GRCh38] Chr11:94204750 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2047G>A (p.Gly683Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167339] |
Chr11:94429934 [GRCh38] Chr11:94163100 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1995-5C>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167358] |
Chr11:94429991 [GRCh38] Chr11:94163157 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1497G>A (p.Glu499=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000167370] |
Chr11:94459411 [GRCh38] Chr11:94192577 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1162C>T (p.Arg388Trp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567345]|Ataxia-telangiectasia-like disorder [RCV000691337]|Hereditary cancer-predisposing syndrome [RCV000167382] |
Chr11:94464176 [GRCh38] Chr11:94197342 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2070+2T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468758]|Ataxia-telangiectasia-like disorder [RCV000642458]|Hereditary breast ovarian cancer syndrome [RCV000416696]|Hereditary cancer-predisposing syndrome [RCV000165802]|not provided [RCV003480069] |
Chr11:94429909 [GRCh38] Chr11:94163075 [GRCh37] Chr11:11q21 |
likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.689C>T (p.Pro230Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003462189]|Ataxia-telangiectasia-like disorder [RCV000524535]|Hereditary cancer-predisposing syndrome [RCV000165843] |
Chr11:94471730 [GRCh38] Chr11:94204896 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.218A>G (p.His73Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001114037]|Ataxia-telangiectasia-like disorder [RCV001315516]|Hereditary cancer-predisposing syndrome [RCV000165886]|not provided [RCV002291580] |
Chr11:94486020 [GRCh38] Chr11:94219186 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.462A>G (p.Gly154=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228569]|Hereditary cancer-predisposing syndrome [RCV000163342] |
Chr11:94478817 [GRCh38] Chr11:94211983 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.940C>T (p.Leu314=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110708]|Ataxia-telangiectasia-like disorder [RCV000867432]|Hereditary cancer-predisposing syndrome [RCV000163491]|MRE11-related disorder [RCV003917564] |
Chr11:94470548 [GRCh38] Chr11:94203714 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.2037A>G (p.Gln679=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002516519]|Hereditary cancer-predisposing syndrome [RCV000167425] |
Chr11:94429944 [GRCh38] Chr11:94163110 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.739dup (p.His247fs) |
duplication |
Ataxia-telangiectasia-like disorder [RCV002228994]|Hereditary cancer-predisposing syndrome [RCV000167449] |
Chr11:94471679..94471680 [GRCh38] Chr11:94204845..94204846 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.64C>T (p.His22Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591692]|Hereditary cancer-predisposing syndrome [RCV000167489] |
Chr11:94490922 [GRCh38] Chr11:94224088 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.718C>G (p.Leu240Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000807724]|Hereditary cancer-predisposing syndrome [RCV000167503] |
Chr11:94471701 [GRCh38] Chr11:94204867 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1833T>G (p.Ala611=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000165928] |
Chr11:94445844 [GRCh38] Chr11:94179010 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.112G>T (p.Val38Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468764]|Ataxia-telangiectasia-like disorder [RCV000806347]|Hereditary cancer-predisposing syndrome [RCV000165955] |
Chr11:94490874 [GRCh38] Chr11:94224040 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.358A>G (p.Ile120Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468767]|Ataxia-telangiectasia-like disorder [RCV000524532]|Hereditary cancer-predisposing syndrome [RCV000166004]|not provided [RCV004998342]|not specified [RCV003114317] |
Chr11:94479718 [GRCh38] Chr11:94212884 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1150A>C (p.Lys384Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166029] |
Chr11:94464188 [GRCh38] Chr11:94197354 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1809C>G (p.Thr603=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166039] |
Chr11:94445868 [GRCh38] Chr11:94179034 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.618T>C (p.Asp206=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000545946]|Hereditary cancer-predisposing syndrome [RCV000163640] |
Chr11:94476330 [GRCh38] Chr11:94209496 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup) |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV001292959]|Ataxia-telangiectasia-like disorder [RCV000549395]|Hereditary cancer-predisposing syndrome [RCV000166107]|not provided [RCV002472956] |
Chr11:94420166..94420167 [GRCh38] Chr11:94153332..94153333 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000663118]|Ataxia-telangiectasia-like disorder [RCV000859203]|Hereditary cancer-predisposing syndrome [RCV000163694] |
Chr11:94459417 [GRCh38] Chr11:94192583 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000627764]|Ataxia-telangiectasia-like disorder [RCV001034648]|Colonic neoplasm [RCV001651033]|Hereditary cancer-predisposing syndrome [RCV000163701]|not provided [RCV001531122] |
Chr11:94447276 [GRCh38] Chr11:94180442 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1086T>C (p.Leu362=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001502248]|Hereditary cancer-predisposing syndrome [RCV000163740]|not provided [RCV000859537] |
Chr11:94467825 [GRCh38] Chr11:94200991 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.777G>A (p.Gln259=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112689]|Ataxia-telangiectasia-like disorder [RCV000524538]|Hereditary cancer-predisposing syndrome [RCV000163750]|not specified [RCV003317114] |
Chr11:94471642 [GRCh38] Chr11:94204808 [GRCh37] Chr11:11q21 |
benign|likely benign|uncertain significance |
NM_005591.4(MRE11):c.789C>G (p.Ile263Met) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591690]|Hereditary cancer-predisposing syndrome [RCV000166208] |
Chr11:94471630 [GRCh38] Chr11:94204796 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1699A>G (p.Asn567Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133157]|Ataxia-telangiectasia-like disorder [RCV000684790]|Hereditary cancer-predisposing syndrome [RCV000166221]|not provided [RCV000712323] |
Chr11:94447303 [GRCh38] Chr11:94180469 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1404T>C (p.Asp468=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000328552]|Ataxia-telangiectasia-like disorder [RCV001087058]|Hereditary cancer-predisposing syndrome [RCV000166278] |
Chr11:94459504 [GRCh38] Chr11:94192670 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000765026]|Ataxia-telangiectasia-like disorder [RCV001034667]|Hereditary cancer-predisposing syndrome [RCV000166345]|not provided [RCV002472958] |
Chr11:94459430 [GRCh38] Chr11:94192596 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000765025]|Ataxia-telangiectasia-like disorder [RCV001034668]|Hereditary cancer-predisposing syndrome [RCV000166346]|not provided [RCV002472959] |
Chr11:94459409 [GRCh38] Chr11:94192575 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.432A>G (p.Leu144=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000859319]|Hereditary cancer-predisposing syndrome [RCV000163816] |
Chr11:94478847 [GRCh38] Chr11:94212013 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV003444061]|Ataxia-telangiectasia-like disorder [RCV001052500]|Hereditary cancer-predisposing syndrome [RCV000163829]|not provided [RCV000761797] |
Chr11:94464115..94464116 [GRCh38] Chr11:94197281..94197282 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.840A>G (p.Val280=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001394839]|Hereditary cancer-predisposing syndrome [RCV000163860]|MRE11-related disorder [RCV004742291] |
Chr11:94471579 [GRCh38] Chr11:94204745 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2076T>A (p.Asp692Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110619]|Ataxia-telangiectasia-like disorder [RCV000524528]|Hereditary cancer-predisposing syndrome [RCV000163872]|not provided [RCV004797786] |
Chr11:94420176 [GRCh38] Chr11:94153342 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.177T>C (p.Gly59=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228701]|Hereditary cancer-predisposing syndrome [RCV000163876] |
Chr11:94486061 [GRCh38] Chr11:94219227 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468781]|Ataxia-telangiectasia-like disorder [RCV000524520]|Hereditary cancer-predisposing syndrome [RCV000166359]|MRE11-related disorder [RCV003407619]|See cases [RCV002252012]|not provided [RCV003477628]|not specified [RCV000505885] |
Chr11:94447276 [GRCh38] Chr11:94180442 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1090C>A (p.Arg364=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000627775]|Hereditary cancer-predisposing syndrome [RCV000166423]|not provided [RCV001762386]|not specified [RCV003987386] |
Chr11:94467821 [GRCh38] Chr11:94200987 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.250A>G (p.Met84Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468783]|Ataxia-telangiectasia-like disorder [RCV001035150]|Hereditary cancer-predisposing syndrome [RCV000166439]|not provided [RCV000992327] |
Chr11:94485988 [GRCh38] Chr11:94219154 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1443A>G (p.Thr481=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000524515]|Hereditary cancer-predisposing syndrome [RCV000166453]|not specified [RCV004700510] |
Chr11:94459465 [GRCh38] Chr11:94192631 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.971A>G (p.Asp324Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000791819]|Hereditary cancer-predisposing syndrome [RCV000166455] |
Chr11:94470517 [GRCh38] Chr11:94203683 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.588A>G (p.Lys196=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000166457] |
Chr11:94476360 [GRCh38] Chr11:94209526 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.346C>T (p.Leu116Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228769]|Hereditary cancer-predisposing syndrome [RCV000166460] |
Chr11:94479730 [GRCh38] Chr11:94212896 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1746G>A (p.Gln582=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757153]|Hereditary cancer-predisposing syndrome [RCV000164030] |
Chr11:94447256 [GRCh38] Chr11:94180422 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.81G>A (p.Glu27=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001087268]|Hereditary cancer-predisposing syndrome [RCV000164037]|MRE11-related disorder [RCV003945281]|not provided [RCV000859260] |
Chr11:94490905 [GRCh38] Chr11:94224071 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.968C>T (p.Pro323Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164049] |
Chr11:94470520 [GRCh38] Chr11:94203686 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1676A>G (p.Asp559Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001307343]|Hereditary cancer-predisposing syndrome [RCV000164066] |
Chr11:94447326 [GRCh38] Chr11:94180492 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1758G>A (p.Ser586=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000276910]|Ataxia-telangiectasia-like disorder [RCV000874586]|Hereditary cancer-predisposing syndrome [RCV000166497] |
Chr11:94447244 [GRCh38] Chr11:94180410 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.181C>G (p.Leu61Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001294988]|Hereditary cancer-predisposing syndrome [RCV000166500] |
Chr11:94486057 [GRCh38] Chr11:94219223 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1445_1446delinsTTAA (p.Gln482fs) |
indel |
Hereditary cancer-predisposing syndrome [RCV000166568] |
Chr11:94459462..94459463 [GRCh38] Chr11:94192628..94192629 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.640T>C (p.Phe214Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000524534]|Ataxia-telangiectasia-like disorder [RCV001201366]|Hereditary cancer-predisposing syndrome [RCV000166584]|not provided [RCV004998349] |
Chr11:94476308 [GRCh38] Chr11:94209474 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1783G>C (p.Ala595Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228970]|Hereditary cancer-predisposing syndrome [RCV000166631] |
Chr11:94447219 [GRCh38] Chr11:94180385 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1470T>C (p.Ile490=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164146] |
Chr11:94459438 [GRCh38] Chr11:94192604 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.45A>G (p.Ile15Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164221] |
Chr11:94490941 [GRCh38] Chr11:94224107 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1167A>G (p.Val389=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002516462]|Hereditary cancer-predisposing syndrome [RCV000164243] |
Chr11:94464171 [GRCh38] Chr11:94197337 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.773A>G (p.Gln258Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228774]|Hereditary cancer-predisposing syndrome [RCV000166678] |
Chr11:94471646 [GRCh38] Chr11:94204812 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.645G>C (p.Val215=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757155]|Hereditary cancer-predisposing syndrome [RCV000166707] |
Chr11:94476303 [GRCh38] Chr11:94209469 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1280T>C (p.Leu427Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228973]|Hereditary cancer-predisposing syndrome [RCV000166758] |
Chr11:94460982 [GRCh38] Chr11:94194148 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.294A>C (p.Ser98=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591691]|Hereditary cancer-predisposing syndrome [RCV000166760] |
Chr11:94485944 [GRCh38] Chr11:94219110 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.530C>T (p.Ala177Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000701788]|Hereditary cancer-predisposing syndrome [RCV000164273] |
Chr11:94478749 [GRCh38] Chr11:94211915 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1154T>C (p.Phe385Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000164301]|not provided [RCV003482237] |
Chr11:94464184 [GRCh38] Chr11:94197350 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1089A>G (p.Val363=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757154]|Hereditary cancer-predisposing syndrome [RCV000164311] |
Chr11:94467822 [GRCh38] Chr11:94200988 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1374A>G (p.Val458=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001446967]|Hereditary cancer-predisposing syndrome [RCV000195713] |
Chr11:94459534 [GRCh38] Chr11:94192700 [GRCh37] Chr11:11q21 |
likely pathogenic|likely benign |
NM_005591.4(MRE11):c.1564-7C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001450612] |
Chr11:94447445 [GRCh38] Chr11:94180611 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.717T>C (p.Asp239=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001489603]|Hereditary cancer-predisposing syndrome [RCV000196657] |
Chr11:94471702 [GRCh38] Chr11:94204868 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.6T>A (p.Ser2Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001303166] |
Chr11:94492796 [GRCh38] Chr11:94225962 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1326+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000197117] |
Chr11:94460933 [GRCh38] Chr11:94194099 [GRCh37] Chr11:11q21 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1143del (p.Phe381fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003462311]|Ataxia-telangiectasia-like disorder [RCV001067349]|Hereditary cancer-predisposing syndrome [RCV000197350] |
Chr11:94464195 [GRCh38] Chr11:94197361 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.138T>C (p.Leu46=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000197929] |
Chr11:94490848 [GRCh38] Chr11:94224014 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.753A>C (p.Ile251=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000859064]|Hereditary cancer-predisposing syndrome [RCV000198213]|not provided [RCV003477660] |
Chr11:94471666 [GRCh38] Chr11:94204832 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.660-9T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000198792] |
Chr11:94471768 [GRCh38] Chr11:94204934 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.862C>T (p.Arg288Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000627773]|Hereditary cancer-predisposing syndrome [RCV000198965] |
Chr11:94470626 [GRCh38] Chr11:94203792 [GRCh37] Chr11:11q21 |
likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.1418T>C (p.Leu473Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003462334]|Ataxia-telangiectasia-like disorder [RCV000524514]|Hereditary cancer-predisposing syndrome [RCV000199015] |
Chr11:94459490 [GRCh38] Chr11:94192656 [GRCh37] Chr11:11q21 |
likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.1441del (p.Thr481fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003468896]|Ataxia-telangiectasia-like disorder [RCV001384423]|Hereditary cancer-predisposing syndrome [RCV000199221] |
Chr11:94459467 [GRCh38] Chr11:94192633 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.293C>T (p.Ser98Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000199571]|Hereditary cancer-predisposing syndrome [RCV002460984] |
Chr11:94485945 [GRCh38] Chr11:94219111 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1792G>C (p.Gly598Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001345107]|Hereditary cancer-predisposing syndrome [RCV004943769] |
Chr11:94445885 [GRCh38] Chr11:94179051 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.315-5_315-4dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV000199935]|Hereditary cancer-predisposing syndrome [RCV002258825] |
Chr11:94479764..94479765 [GRCh38] Chr11:94212930..94212931 [GRCh37] Chr11:11q21 |
likely pathogenic|benign|likely benign |
NM_005591.4(MRE11):c.1974C>T (p.Thr658=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757159]|Hereditary cancer-predisposing syndrome [RCV000200074] |
Chr11:94435852 [GRCh38] Chr11:94169018 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.476T>C (p.Val159Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003129803]|Ataxia-telangiectasia-like disorder [RCV000684800]|Hereditary cancer-predisposing syndrome [RCV000200393]|not provided [RCV000992329]|not specified [RCV001194169] |
Chr11:94478803 [GRCh38] Chr11:94211969 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.1225+10T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000281306]|Ataxia-telangiectasia-like disorder [RCV000200713] |
Chr11:94464103 [GRCh38] Chr11:94197269 [GRCh37] Chr11:11q21 |
likely pathogenic|likely benign|uncertain significance |
NM_005591.4(MRE11):c.108G>A (p.Thr36=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001415700]|Hereditary cancer-predisposing syndrome [RCV000561088] |
Chr11:94490878 [GRCh38] Chr11:94224044 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1687T>C (p.Ser563Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001323691]|Hereditary cancer-predisposing syndrome [RCV000204218] |
Chr11:94447315 [GRCh38] Chr11:94180481 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2113A>G (p.Arg705Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005003559]|Ataxia-telangiectasia-like disorder [RCV000791384]|Hereditary cancer-predisposing syndrome [RCV000204274]|not provided [RCV004998424] |
Chr11:94420139 [GRCh38] Chr11:94153305 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1338C>G (p.Leu446=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001421922]|Hereditary cancer-predisposing syndrome [RCV002460989] |
Chr11:94459570 [GRCh38] Chr11:94192736 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.855T>C (p.Gly285=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001475945] |
Chr11:94470633 [GRCh38] Chr11:94203799 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1995-19_1995-8del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV002229175]|Hereditary cancer-predisposing syndrome [RCV000204662] |
Chr11:94429994..94430005 [GRCh38] Chr11:94163160..94163171 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+8A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001453255] |
Chr11:94464105 [GRCh38] Chr11:94197271 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.498G>A (p.Pro166=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001407725]|Hereditary cancer-predisposing syndrome [RCV000563219] |
Chr11:94478781 [GRCh38] Chr11:94211947 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1783+10G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112604]|Ataxia-telangiectasia-like disorder [RCV001408988] |
Chr11:94447209 [GRCh38] Chr11:94180375 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1508G>A (p.Arg503His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468956]|Ataxia-telangiectasia-like disorder [RCV001201360]|Hereditary breast ovarian cancer syndrome [RCV001030636]|Hereditary cancer-predisposing syndrome [RCV000204840] |
Chr11:94456331 [GRCh38] Chr11:94189497 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-12_1226-10del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV000204873] |
Chr11:94461046..94461048 [GRCh38] Chr11:94194212..94194214 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.475G>A (p.Val159Met) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001350372]|Hereditary cancer-predisposing syndrome [RCV000204887] |
Chr11:94478804 [GRCh38] Chr11:94211970 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.761C>T (p.Thr254Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001368801]|Hereditary cancer-predisposing syndrome [RCV000204960] |
Chr11:94471658 [GRCh38] Chr11:94204824 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.314+6T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000408997]|Ataxia-telangiectasia-like disorder [RCV001296095]|Hereditary cancer-predisposing syndrome [RCV000205309]|not provided [RCV003237767]|not specified [RCV003230450] |
Chr11:94485918 [GRCh38] Chr11:94219084 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1918T>A (p.Tyr640Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001309101]|Hereditary cancer-predisposing syndrome [RCV000205335] |
Chr11:94437185 [GRCh38] Chr11:94170351 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2053G>T (p.Asp685Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001368895]|Hereditary cancer-predisposing syndrome [RCV000205426] |
Chr11:94429928 [GRCh38] Chr11:94163094 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1994+10G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000298889]|Ataxia-telangiectasia-like disorder [RCV001079590]|Hereditary breast ovarian cancer syndrome [RCV002225508]|not provided [RCV000586722]|not specified [RCV001289102] |
Chr11:94435822 [GRCh38] Chr11:94168988 [GRCh37] Chr11:11q21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005591.4(MRE11):c.1129A>G (p.Ser377Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567460]|Ataxia-telangiectasia-like disorder [RCV001341581]|Hereditary cancer-predisposing syndrome [RCV000205929] |
Chr11:94464209 [GRCh38] Chr11:94197375 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1046G>A (p.Arg349Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468965]|Ataxia-telangiectasia-like disorder [RCV000205970]|Hereditary cancer-predisposing syndrome [RCV000575585]|not specified [RCV001193483] |
Chr11:94467865 [GRCh38] Chr11:94201031 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.21-11_21-8del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV003765318]|Hereditary cancer-predisposing syndrome [RCV000206191] |
Chr11:94490973..94490976 [GRCh38] Chr11:94224139..94224142 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1741G>A (p.Gly581Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001318989]|Hereditary cancer-predisposing syndrome [RCV000206218] |
Chr11:94447261 [GRCh38] Chr11:94180427 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1718G>T (p.Gly573Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005090035]|Hereditary cancer-predisposing syndrome [RCV000206358] |
Chr11:94447284 [GRCh38] Chr11:94180450 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1724G>A (p.Gly575Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468960]|Ataxia-telangiectasia-like disorder [RCV000524519]|Hereditary cancer-predisposing syndrome [RCV000206575] |
Chr11:94447278 [GRCh38] Chr11:94180444 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1783+7A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000368990]|Ataxia-telangiectasia-like disorder [RCV000859063]|Hereditary cancer-predisposing syndrome [RCV000708710] |
Chr11:94447212 [GRCh38] Chr11:94180378 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1902T>C (p.Asn634=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001475936]|Hereditary cancer-predisposing syndrome [RCV000206772] |
Chr11:94437201 [GRCh38] Chr11:94170367 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1736G>A (p.Gly579Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468941]|Ataxia-telangiectasia-like disorder [RCV002229168]|Hereditary cancer-predisposing syndrome [RCV000203835] |
Chr11:94447266 [GRCh38] Chr11:94180432 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.535T>C (p.Tyr179His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003462373]|Ataxia-telangiectasia-like disorder [RCV001316325]|Hereditary cancer-predisposing syndrome [RCV000204139] |
Chr11:94478744 [GRCh38] Chr11:94211910 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2124A>G (p.Arg708=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003459287]|Ataxia-telangiectasia-like disorder [RCV003767105]|Hereditary cancer-predisposing syndrome [RCV000562213] |
Chr11:94420128 [GRCh38] Chr11:94153294 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.295_298del (p.Val99fs) |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV004569154]|Ataxia-telangiectasia-like disorder [RCV002232091]|Hereditary cancer-predisposing syndrome [RCV000563905]|not provided [RCV001288238] |
Chr11:94485940..94485943 [GRCh38] Chr11:94219106..94219109 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.2050G>C (p.Val684Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001043069]|Hereditary cancer-predisposing syndrome [RCV000564794] |
Chr11:94429931 [GRCh38] Chr11:94163097 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.931G>T (p.Asp311Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562832]|not provided [RCV004777739]|not specified [RCV001797749] |
Chr11:94470557 [GRCh38] Chr11:94203723 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.910G>T (p.Val304Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564110] |
Chr11:94470578 [GRCh38] Chr11:94203744 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.806C>G (p.Ser269Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591720]|Hereditary cancer-predisposing syndrome [RCV000219565] |
Chr11:94471613 [GRCh38] Chr11:94204779 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.544+5G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001205528]|Hereditary cancer-predisposing syndrome [RCV000223595] |
Chr11:94478730 [GRCh38] Chr11:94211896 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1201C>G (p.His401Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133192]|Ataxia-telangiectasia-like disorder [RCV001063241]|Hereditary cancer-predisposing syndrome [RCV000223614] |
Chr11:94464137 [GRCh38] Chr11:94197303 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1507C>T (p.Arg503Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001762485]|Ataxia-telangiectasia-like disorder [RCV000807720]|Hereditary cancer-predisposing syndrome [RCV000215319]|not provided [RCV003237777] |
Chr11:94456332 [GRCh38] Chr11:94189498 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.292T>C (p.Ser98Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217124]|MRE11-related disorder [RCV003982968] |
Chr11:94485946 [GRCh38] Chr11:94219112 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2043G>A (p.Ser681=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001504062]|Hereditary cancer-predisposing syndrome [RCV000234126]|not provided [RCV003884416] |
Chr11:94429938 [GRCh38] Chr11:94163104 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.224G>A (p.Cys75Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591721]|Hereditary cancer-predisposing syndrome [RCV000219695]|not provided [RCV000761798] |
Chr11:94486014 [GRCh38] Chr11:94219180 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1728A>T (p.Arg576=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591717]|Hereditary cancer-predisposing syndrome [RCV000219760] |
Chr11:94447274 [GRCh38] Chr11:94180440 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2028C>T (p.Ser676=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001437640]|Hereditary cancer-predisposing syndrome [RCV000219767] |
Chr11:94429953 [GRCh38] Chr11:94163119 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1098+2T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001378881]|Hereditary cancer-predisposing syndrome [RCV000221914] |
Chr11:94467811 [GRCh38] Chr11:94200977 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.986C>G (p.Thr329Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008172]|Ataxia-telangiectasia-like disorder [RCV001057384]|Hereditary cancer-predisposing syndrome [RCV000213127]|not specified [RCV000781548] |
Chr11:94470502 [GRCh38] Chr11:94203668 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.716A>G (p.Asp239Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229273]|Hereditary cancer-predisposing syndrome [RCV000213144] |
Chr11:94471703 [GRCh38] Chr11:94204869 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1475C>T (p.Ala492Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003469046]|Ataxia-telangiectasia-like disorder [RCV003757160]|Hereditary cancer-predisposing syndrome [RCV000217220] |
Chr11:94459433 [GRCh38] Chr11:94192599 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.659+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000410656]|Ataxia-telangiectasia-like disorder [RCV000812799]|Hereditary breast ovarian cancer syndrome [RCV004794376]|Hereditary cancer-predisposing syndrome [RCV000217276]|MRE11-related disorder [RCV003401135] |
Chr11:94476288 [GRCh38] Chr11:94209454 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.801A>G (p.Gly267=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000870695]|Hereditary cancer-predisposing syndrome [RCV000217301] |
Chr11:94471618 [GRCh38] Chr11:94204784 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1492G>A (p.Asp498Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229550]|Hereditary cancer-predisposing syndrome [RCV000217443] |
Chr11:94459416 [GRCh38] Chr11:94192582 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1500+3A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219924] |
Chr11:94459405 [GRCh38] Chr11:94192571 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.186T>C (p.Phe62=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222238] |
Chr11:94486052 [GRCh38] Chr11:94219218 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2058dup (p.Glu687Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000222271] |
Chr11:94429922..94429923 [GRCh38] Chr11:94163088..94163089 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.162T>C (p.Phe54=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003105828]|Hereditary cancer-predisposing syndrome [RCV000222319] |
Chr11:94486076 [GRCh38] Chr11:94219242 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1496A>G (p.Glu499Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468984]|Ataxia-telangiectasia-like disorder [RCV000823379]|Hereditary cancer-predisposing syndrome [RCV000219982] |
Chr11:94459412 [GRCh38] Chr11:94192578 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.83A>C (p.Lys28Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219989]|not provided [RCV002472970] |
Chr11:94490903 [GRCh38] Chr11:94224069 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1840G>A (p.Ala614Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219996] |
Chr11:94445837 [GRCh38] Chr11:94179003 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.636C>T (p.Asn212=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229767]|Hereditary cancer-predisposing syndrome [RCV000220015]|not specified [RCV004998439] |
Chr11:94476312 [GRCh38] Chr11:94209478 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1165G>T (p.Val389Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001339845]|Hereditary cancer-predisposing syndrome [RCV000560949] |
Chr11:94464173 [GRCh38] Chr11:94197339 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1187T>C (p.Ile396Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232295]|Hereditary cancer-predisposing syndrome [RCV001010221] |
Chr11:94464151 [GRCh38] Chr11:94197317 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.408T>C (p.Asp136=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002519667]|Hereditary cancer-predisposing syndrome [RCV000213586] |
Chr11:94478871 [GRCh38] Chr11:94212037 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2096A>G (p.Asn699Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229300]|Hereditary cancer-predisposing syndrome [RCV000217632] |
Chr11:94420156 [GRCh38] Chr11:94153322 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1403A>T (p.Asp468Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001201911]|Hereditary cancer-predisposing syndrome [RCV000217682] |
Chr11:94459505 [GRCh38] Chr11:94192671 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.267C>G (p.Val89=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000859141]|Hereditary cancer-predisposing syndrome [RCV000220044]|MRE11-related disorder [RCV003897483] |
Chr11:94485971 [GRCh38] Chr11:94219137 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2086C>T (p.Pro696Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000798615]|Hereditary cancer-predisposing syndrome [RCV000220197] |
Chr11:94420166 [GRCh38] Chr11:94153332 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1209A>G (p.Glu403=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005090112]|Hereditary cancer-predisposing syndrome [RCV000213706] |
Chr11:94464129 [GRCh38] Chr11:94197295 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1190A>G (p.His397Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213755] |
Chr11:94464148 [GRCh38] Chr11:94197314 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1926+4A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001201347]|Hereditary cancer-predisposing syndrome [RCV000215453] |
Chr11:94437173 [GRCh38] Chr11:94170339 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.28G>A (p.Glu10Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000809391]|Hereditary cancer-predisposing syndrome [RCV000215459] |
Chr11:94490958 [GRCh38] Chr11:94224124 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.454C>T (p.His152Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000531980]|Hereditary cancer-predisposing syndrome [RCV000215483] |
Chr11:94478825 [GRCh38] Chr11:94211991 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.222C>G (p.Thr74=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002516178]|Hereditary cancer-predisposing syndrome [RCV000215492] |
Chr11:94486016 [GRCh38] Chr11:94219182 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.227T>G (p.Leu76Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217791] |
Chr11:94486011 [GRCh38] Chr11:94219177 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.804C>T (p.Ser268=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003765430]|Hereditary cancer-predisposing syndrome [RCV000217821] |
Chr11:94471615 [GRCh38] Chr11:94204781 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1571C>G (p.Thr524Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229558]|Hereditary cancer-predisposing syndrome [RCV000217915] |
Chr11:94447431 [GRCh38] Chr11:94180597 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.2051T>C (p.Val684Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229289]|Hereditary cancer-predisposing syndrome [RCV000220272] |
Chr11:94429930 [GRCh38] Chr11:94163096 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1390A>G (p.Lys464Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220274] |
Chr11:94459518 [GRCh38] Chr11:94192684 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1505G>A (p.Arg502His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229285]|Hereditary cancer-predisposing syndrome [RCV000220333]|not provided [RCV001753673] |
Chr11:94456334 [GRCh38] Chr11:94189500 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.37T>C (p.Phe13Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008157]|Ataxia-telangiectasia-like disorder [RCV000691356]|Hereditary cancer-predisposing syndrome [RCV000220334] |
Chr11:94490949 [GRCh38] Chr11:94224115 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1169C>T (p.Ala390Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220339]|not provided [RCV004725083] |
Chr11:94464169 [GRCh38] Chr11:94197335 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1663G>A (p.Ala555Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213767] |
Chr11:94447339 [GRCh38] Chr11:94180505 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.55A>G (p.Thr19Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213862] |
Chr11:94490931 [GRCh38] Chr11:94224097 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1106A>G (p.Tyr369Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000547139]|Hereditary cancer-predisposing syndrome [RCV000215559] |
Chr11:94464232 [GRCh38] Chr11:94197398 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.714T>C (p.Ile238=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215615] |
Chr11:94471705 [GRCh38] Chr11:94204871 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2121A>G (p.Arg707=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215625] |
Chr11:94420131 [GRCh38] Chr11:94153297 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.98G>A (p.Gly33Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229301]|Hereditary cancer-predisposing syndrome [RCV000215660] |
Chr11:94490888 [GRCh38] Chr11:94224054 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.393T>A (p.Asp131Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000217988] |
Chr11:94479683 [GRCh38] Chr11:94212849 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1165G>A (p.Val389Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218045]|Ovarian cancer [RCV003153512] |
Chr11:94464173 [GRCh38] Chr11:94197339 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NM_005591.4(MRE11):c.1138C>T (p.Arg380Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000691913]|Hereditary cancer-predisposing syndrome [RCV000220409] |
Chr11:94464200 [GRCh38] Chr11:94197366 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2074G>C (p.Asp692His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220433] |
Chr11:94420178 [GRCh38] Chr11:94153344 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.660-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220497] |
Chr11:94471760 [GRCh38] Chr11:94204926 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1952T>A (p.Val651Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001337145]|Hereditary cancer-predisposing syndrome [RCV000213930] |
Chr11:94435874 [GRCh38] Chr11:94169040 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.431T>C (p.Leu144Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000213959]|not provided [RCV004998486] |
Chr11:94478848 [GRCh38] Chr11:94212014 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.762C>T (p.Thr254=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214050] |
Chr11:94471657 [GRCh38] Chr11:94204823 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.444A>G (p.Gly148=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000859209]|Hereditary cancer-predisposing syndrome [RCV000226500] |
Chr11:94478835 [GRCh38] Chr11:94212001 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1826dup (p.Thr610fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV000218130] |
Chr11:94445850..94445851 [GRCh38] Chr11:94179016..94179017 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.346C>A (p.Leu116Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218139] |
Chr11:94479730 [GRCh38] Chr11:94212896 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1628A>G (p.Asp543Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000220566] |
Chr11:94447374 [GRCh38] Chr11:94180540 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.52_54del (p.Ala18del) |
deletion |
Ataxia-telangiectasia-like disorder [RCV001241237]|Hereditary cancer-predisposing syndrome [RCV000214124]|not specified [RCV003323457] |
Chr11:94490932..94490934 [GRCh38] Chr11:94224098..94224100 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.863G>A (p.Arg288His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229230]|Hereditary cancer-predisposing syndrome [RCV000226663]|Ovarian cancer [RCV003153500]|not provided [RCV003237775] |
Chr11:94470625 [GRCh38] Chr11:94203791 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NM_005591.4(MRE11):c.315-2A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003469030]|Ataxia-telangiectasia-like disorder [RCV003591718]|Hereditary breast ovarian cancer syndrome [RCV002222449]|Hereditary cancer-predisposing syndrome [RCV000215862]|not provided [RCV002262810] |
Chr11:94479763 [GRCh38] Chr11:94212929 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.924C>A (p.Phe308Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008165]|Ataxia-telangiectasia-like disorder [RCV002228964]|Hereditary cancer-predisposing syndrome [RCV000215866]|MRE11-related disorder [RCV003401142] |
Chr11:94470564 [GRCh38] Chr11:94203730 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.363A>C (p.Pro121=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001505405]|Hereditary cancer-predisposing syndrome [RCV000215919] |
Chr11:94479713 [GRCh38] Chr11:94212879 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1358G>C (p.Gly453Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215972] |
Chr11:94459550 [GRCh38] Chr11:94192716 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.337G>A (p.Asp113Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002228957]|Hereditary cancer-predisposing syndrome [RCV000218270] |
Chr11:94479739 [GRCh38] Chr11:94212905 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.611A>G (p.Lys204Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001203673]|Hereditary cancer-predisposing syndrome [RCV000220671] |
Chr11:94476337 [GRCh38] Chr11:94209503 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2094G>C (p.Met698Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222507] |
Chr11:94420158 [GRCh38] Chr11:94153324 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1176A>G (p.Pro392=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229283]|Hereditary cancer-predisposing syndrome [RCV000222508] |
Chr11:94464162 [GRCh38] Chr11:94197328 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1868-4C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591719]|Hereditary cancer-predisposing syndrome [RCV000214244] |
Chr11:94437239 [GRCh38] Chr11:94170405 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.260G>A (p.Arg87Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000793989]|Hereditary cancer-predisposing syndrome [RCV000214295]|not provided [RCV004998479] |
Chr11:94485978 [GRCh38] Chr11:94219144 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1810C>T (p.Arg604Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000627768]|Hereditary cancer-predisposing syndrome [RCV000216092] |
Chr11:94445867 [GRCh38] Chr11:94179033 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1107T>C (p.Tyr369=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001505337]|Hereditary cancer-predisposing syndrome [RCV000229732] |
Chr11:94464231 [GRCh38] Chr11:94197397 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.364G>C (p.Val122Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133188]|Hereditary cancer-predisposing syndrome [RCV000220959] |
Chr11:94479712 [GRCh38] Chr11:94212878 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.33C>A (p.Asn11Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229573]|Hereditary cancer-predisposing syndrome [RCV000222620] |
Chr11:94490953 [GRCh38] Chr11:94224119 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.259C>G (p.Arg87Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000222685] |
Chr11:94485979 [GRCh38] Chr11:94219145 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.659+1491A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000208882] |
Chr11:94474798 [GRCh38] Chr11:94207964 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1501-544C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000208974] |
Chr11:94456882 [GRCh38] Chr11:94190048 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1868-1793T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209149] |
Chr11:94439028 [GRCh38] Chr11:94172194 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1145G>C (p.Ser382Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000765030]|Ataxia-telangiectasia-like disorder [RCV001302309]|Hereditary cancer-predisposing syndrome [RCV000214375] |
Chr11:94464193 [GRCh38] Chr11:94197359 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.740A>G (p.His247Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000642461]|Hereditary cancer-predisposing syndrome [RCV000214472] |
Chr11:94471679 [GRCh38] Chr11:94204845 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2058T>G (p.Phe686Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216250] |
Chr11:94429923 [GRCh38] Chr11:94163089 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1289A>T (p.Glu430Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218616] |
Chr11:94460973 [GRCh38] Chr11:94194139 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1143T>C (p.Phe381=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000221027] |
Chr11:94464195 [GRCh38] Chr11:94197361 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1233G>A (p.Glu411=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109913]|Ataxia-telangiectasia-like disorder [RCV001469622]|Hereditary cancer-predisposing syndrome [RCV000221037] |
Chr11:94461029 [GRCh38] Chr11:94194195 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.924C>T (p.Phe308=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000875099]|Hereditary cancer-predisposing syndrome [RCV000221126]|MRE11-related disorder [RCV003929918]|not specified [RCV004998475] |
Chr11:94470564 [GRCh38] Chr11:94203730 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1326+93G>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225511]|Hereditary cancer-predisposing syndrome [RCV000209182]|not provided [RCV001563111] |
Chr11:94460843 [GRCh38] Chr11:94194009 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.18_19delinsTG (p.Leu7Val) |
indel |
Ataxia-telangiectasia-like disorder 1 [RCV005003567]|Ataxia-telangiectasia-like disorder [RCV002229248]|Hereditary cancer-predisposing syndrome [RCV000214528]|not provided [RCV004998459] |
Chr11:94492783..94492784 [GRCh38] Chr11:94225949..94225950 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1927G>T (p.Val643Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214612] |
Chr11:94435899 [GRCh38] Chr11:94169065 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001762492]|Ataxia-telangiectasia-like disorder [RCV000524509]|Hereditary cancer-predisposing syndrome [RCV000225827]|MRE11-related disorder [RCV003947728]|not provided [RCV003237778] |
Chr11:94467837 [GRCh38] Chr11:94201003 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1326_1326+8dup |
duplication |
Hereditary cancer-predisposing syndrome [RCV000216326] |
Chr11:94460927..94460928 [GRCh38] Chr11:94194093..94194094 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1350A>G (p.Thr450=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229313]|Hereditary cancer-predisposing syndrome [RCV000216448]|MRE11-related disorder [RCV004725092] |
Chr11:94459558 [GRCh38] Chr11:94192724 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1642A>G (p.Ile548Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008164]|Ataxia-telangiectasia-like disorder [RCV001366999]|Hereditary cancer-predisposing syndrome [RCV000218768] |
Chr11:94447360 [GRCh38] Chr11:94180526 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003469065]|Ataxia-telangiectasia-like disorder [RCV002229304]|Hereditary cancer-predisposing syndrome [RCV000218839] |
Chr11:94447362..94447369 [GRCh38] Chr11:94180528..94180535 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.390C>T (p.Asp130=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001430430]|Hereditary cancer-predisposing syndrome [RCV000221191] |
Chr11:94479686 [GRCh38] Chr11:94212852 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.954A>G (p.Pro318=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229570]|Hereditary cancer-predisposing syndrome [RCV000221233] |
Chr11:94470534 [GRCh38] Chr11:94203700 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.766A>G (p.Asn256Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003765421]|Hereditary cancer-predisposing syndrome [RCV000221277] |
Chr11:94471653 [GRCh38] Chr11:94204819 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.403-131T>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209354] |
Chr11:94479007 [GRCh38] Chr11:94212173 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2071-53G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000411487]|Hereditary cancer-predisposing syndrome [RCV000209483]|not provided [RCV001546456] |
Chr11:94420234 [GRCh38] Chr11:94153400 [GRCh37] Chr11:11q21 |
likely pathogenic|benign|likely benign |
NM_005591.4(MRE11):c.659+1306G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209504] |
Chr11:94474983 [GRCh38] Chr11:94208149 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+1292A>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209783] |
Chr11:94474997 [GRCh38] Chr11:94208163 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1853T>G (p.Met618Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000330635]|Ataxia-telangiectasia-like disorder [RCV001324948]|Hereditary cancer-predisposing syndrome [RCV000216532] |
Chr11:94445824 [GRCh38] Chr11:94178990 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.7A>G (p.Thr3Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001299121]|Hereditary cancer-predisposing syndrome [RCV000216593] |
Chr11:94492795 [GRCh38] Chr11:94225961 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1367A>G (p.Glu456Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000218876] |
Chr11:94459541 [GRCh38] Chr11:94192707 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2099C>G (p.Thr700Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000525528]|Ataxia-telangiectasia-like disorder [RCV002229936]|Hereditary cancer-predisposing syndrome [RCV000218975] |
Chr11:94420153 [GRCh38] Chr11:94153319 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1180G>C (p.Asp394His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468999]|Ataxia-telangiectasia-like disorder [RCV002518267]|Hereditary cancer-predisposing syndrome [RCV000218986] |
Chr11:94464158 [GRCh38] Chr11:94197324 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1828A>G (p.Thr610Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002515732]|Hereditary cancer-predisposing syndrome [RCV000221307] |
Chr11:94445849 [GRCh38] Chr11:94179015 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1967T>C (p.Phe656Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232448]|Hereditary cancer-predisposing syndrome [RCV000561665] |
Chr11:94435859 [GRCh38] Chr11:94169025 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1225+1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214897] |
Chr11:94464112 [GRCh38] Chr11:94197278 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1656A>G (p.Glu552=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216606] |
Chr11:94447346 [GRCh38] Chr11:94180512 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1141T>C (p.Phe381Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001373769]|Hereditary cancer-predisposing syndrome [RCV000216684] |
Chr11:94464197 [GRCh38] Chr11:94197363 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1611T>C (p.Ala537=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216756] |
Chr11:94447391 [GRCh38] Chr11:94180557 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1413G>A (p.Glu471=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000876987]|Hereditary breast ovarian cancer syndrome [RCV002225519]|Hereditary cancer-predisposing syndrome [RCV000219037]|not specified [RCV004998452] |
Chr11:94459495 [GRCh38] Chr11:94192661 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.336A>G (p.Gln112=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219095] |
Chr11:94479740 [GRCh38] Chr11:94212906 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1807A>G (p.Thr603Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133191]|Ataxia-telangiectasia-like disorder [RCV001049319]|Hereditary cancer-predisposing syndrome [RCV000221518] |
Chr11:94445870 [GRCh38] Chr11:94179036 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1045C>T (p.Arg349Trp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000763777]|Ataxia-telangiectasia-like disorder [RCV001064569]|Hereditary cancer-predisposing syndrome [RCV000223190]|not provided [RCV004998473] |
Chr11:94467866 [GRCh38] Chr11:94201032 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1861A>G (p.Ile621Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001318490]|Hereditary cancer-predisposing syndrome [RCV000223240] |
Chr11:94445816 [GRCh38] Chr11:94178982 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.564G>C (p.Arg188Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005090127]|Hereditary cancer-predisposing syndrome [RCV000223258] |
Chr11:94476384 [GRCh38] Chr11:94209550 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003468973]|Ataxia-telangiectasia-like disorder [RCV002229537]|Hereditary cancer-predisposing syndrome [RCV000210166] |
Chr11:94486009 [GRCh38] Chr11:94219175 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1548T>G (p.Asp516Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000214988] |
Chr11:94456291 [GRCh38] Chr11:94189457 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1622G>T (p.Ser541Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001242278]|Hereditary cancer-predisposing syndrome [RCV000214989] |
Chr11:94447380 [GRCh38] Chr11:94180546 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.891T>G (p.His297Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219230] |
Chr11:94470597 [GRCh38] Chr11:94203763 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.986C>A (p.Thr329Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003469097]|Ataxia-telangiectasia-like disorder [RCV000704453]|Hereditary cancer-predisposing syndrome [RCV000223376] |
Chr11:94470502 [GRCh38] Chr11:94203668 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.592G>T (p.Val198Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215255] |
Chr11:94476356 [GRCh38] Chr11:94209522 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.263C>T (p.Pro88Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000215256] |
Chr11:94485975 [GRCh38] Chr11:94219141 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.339T>C (p.Asp113=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229216]|Hereditary cancer-predisposing syndrome [RCV000216938] |
Chr11:94479737 [GRCh38] Chr11:94212903 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1018A>T (p.Ile340Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000216941] |
Chr11:94467893 [GRCh38] Chr11:94201059 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003469031]|Ataxia-telangiectasia-like disorder [RCV000642442]|Breast carcinoma [RCV001554327]|Hereditary cancer-predisposing syndrome [RCV000216978] |
Chr11:94459461 [GRCh38] Chr11:94192627 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.2004C>T (p.Ser668=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229572]|Hereditary cancer-predisposing syndrome [RCV000217050] |
Chr11:94429977 [GRCh38] Chr11:94163143 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.121G>C (p.Asp41His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567512]|Ataxia-telangiectasia-like disorder [RCV001298208]|Hereditary cancer-predisposing syndrome [RCV000219364] |
Chr11:94490865 [GRCh38] Chr11:94224031 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1394A>C (p.Glu465Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000219374] |
Chr11:94459514 [GRCh38] Chr11:94192680 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1563G>A (p.Glu521=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002229362]|Hereditary cancer-predisposing syndrome [RCV001012138] |
Chr11:94456276 [GRCh38] Chr11:94189442 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.405A>T (p.Ala135=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000228815] |
Chr11:94478874 [GRCh38] Chr11:94212040 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.879G>A (p.Lys293=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000859122]|Hereditary cancer-predisposing syndrome [RCV000229452] |
Chr11:94470609 [GRCh38] Chr11:94203775 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.414T>C (p.Leu138=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001461183]|Hereditary cancer-predisposing syndrome [RCV002461003] |
Chr11:94478865 [GRCh38] Chr11:94212031 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1131T>C (p.Ser377=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001456780]|Hereditary cancer-predisposing syndrome [RCV000231662] |
Chr11:94464207 [GRCh38] Chr11:94197373 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.315-4T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001485072] |
Chr11:94479765 [GRCh38] Chr11:94212931 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1923A>G (p.Ser641=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001434883]|Hereditary cancer-predisposing syndrome [RCV002461002] |
Chr11:94437180 [GRCh38] Chr11:94170346 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1327-2A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004567749]|Ataxia-telangiectasia-like disorder [RCV000226518]|Hereditary cancer-predisposing syndrome [RCV002461001] |
Chr11:94459583 [GRCh38] Chr11:94192749 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.323G>C (p.Trp108Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000792188]|Hereditary cancer-predisposing syndrome [RCV000565282] |
Chr11:94479753 [GRCh38] Chr11:94212919 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1867G>A (p.Ala623Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000562659] |
Chr11:94445810 [GRCh38] Chr11:94178976 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.411A>G (p.Ala137=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568834]|not specified [RCV000516275] |
Chr11:94478868 [GRCh38] Chr11:94212034 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.835G>C (p.Ala279Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000688223]|Ataxia-telangiectasia-like disorder [RCV002232658]|Hereditary cancer-predisposing syndrome [RCV000563733]|not provided [RCV004760620] |
Chr11:94471584 [GRCh38] Chr11:94204750 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.958A>C (p.Ile320Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231812]|Hereditary cancer-predisposing syndrome [RCV000567044] |
Chr11:94470530 [GRCh38] Chr11:94203696 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1927-1G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000662872]|Ataxia-telangiectasia-like disorder [RCV002231529]|Hereditary cancer-predisposing syndrome [RCV000564266] |
Chr11:94435900 [GRCh38] Chr11:94169066 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1466A>G (p.His489Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001319346]|Hereditary cancer-predisposing syndrome [RCV000567873] |
Chr11:94459442 [GRCh38] Chr11:94192608 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.20+28G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003316428]|Hereditary breast ovarian cancer syndrome [RCV002225565]|not provided [RCV001689856]|not specified [RCV000252025] |
Chr11:94492754 [GRCh38] Chr11:94225920 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1892C>G (p.Pro631Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232093]|Hereditary cancer-predisposing syndrome [RCV000566558] |
Chr11:94437211 [GRCh38] Chr11:94170377 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.788T>C (p.Ile263Thr) |
single nucleotide variant |
not provided [RCV000521402] |
Chr11:94471631 [GRCh38] Chr11:94204797 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1632C>G (p.Asp544Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232402]|Hereditary cancer-predisposing syndrome [RCV000567206] |
Chr11:94447370 [GRCh38] Chr11:94180536 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2033G>A (p.Ser678Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569215]|Ataxia-telangiectasia-like disorder [RCV002232445]|Hereditary cancer-predisposing syndrome [RCV000565796] |
Chr11:94429948 [GRCh38] Chr11:94163114 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1456A>G (p.Lys486Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001335298]|Hereditary cancer-predisposing syndrome [RCV000568897]|not provided [RCV005000241] |
Chr11:94459452 [GRCh38] Chr11:94192618 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1637T>C (p.Met546Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005091381]|Hereditary cancer-predisposing syndrome [RCV000564897] |
Chr11:94447365 [GRCh38] Chr11:94180531 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.188A>C (p.His63Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567751] |
Chr11:94486050 [GRCh38] Chr11:94219216 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.73T>C (p.Phe25Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003465236]|Ataxia-telangiectasia-like disorder [RCV002231613]|Hereditary cancer-predisposing syndrome [RCV000567785] |
Chr11:94490913 [GRCh38] Chr11:94224079 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1550A>G (p.Asp517Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569058] |
Chr11:94456289 [GRCh38] Chr11:94189455 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.19C>G (p.Leu7Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110005]|Hereditary cancer-predisposing syndrome [RCV000568582] |
Chr11:94492783 [GRCh38] Chr11:94225949 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.845+267G>T |
single nucleotide variant |
not provided [RCV001564163] |
Chr11:94471307 [GRCh38] Chr11:94204473 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1567A>G (p.Met523Val) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030635]|Hereditary cancer-predisposing syndrome [RCV000568668] |
Chr11:94447435 [GRCh38] Chr11:94180601 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1926+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000565057] |
Chr11:94437175 [GRCh38] Chr11:94170341 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.*313G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000304924] |
Chr11:94419812 [GRCh38] Chr11:94152978 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2452C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000306318] |
Chr11:94417673 [GRCh38] Chr11:94150839 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.508C>A (p.Gln170Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000308108]|Hereditary cancer-predisposing syndrome [RCV000572619] |
Chr11:94478771 [GRCh38] Chr11:94211937 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*1083T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000309137] |
Chr11:94419042 [GRCh38] Chr11:94152208 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NM_005591.4(MRE11):c.*2699A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000312170] |
Chr11:94417426 [GRCh38] Chr11:94150592 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.*1366G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000314926] |
Chr11:94418759 [GRCh38] Chr11:94151925 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*669C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000315731] |
Chr11:94419456 [GRCh38] Chr11:94152622 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*630TC[17] |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV000319260] |
Chr11:94419465..94419466 [GRCh38] Chr11:94152631..94152632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.-106+5G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000319622]|not provided [RCV001660605] |
Chr11:94493786 [GRCh38] Chr11:94226952 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.*2106T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000323360] |
Chr11:94418019 [GRCh38] Chr11:94151185 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1545A>G (p.Glu515=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000324914]|Ataxia-telangiectasia-like disorder [RCV001468244]|Hereditary cancer-predisposing syndrome [RCV002461066] |
Chr11:94456294 [GRCh38] Chr11:94189460 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.*2296A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000328625] |
Chr11:94417829 [GRCh38] Chr11:94150995 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*659CT[4]CCC[1] |
insertion |
Ataxia-telangiectasia-like disorder 1 [RCV000332757] |
Chr11:94419465..94419466 [GRCh38] Chr11:94152631..94152632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*447T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000339644] |
Chr11:94419678 [GRCh38] Chr11:94152844 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.848A>G (p.His283Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000342005]|Ataxia-telangiectasia-like disorder [RCV000813667]|Hereditary cancer-predisposing syndrome [RCV000570707]|not provided [RCV004693074] |
Chr11:94470640 [GRCh38] Chr11:94203806 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.890A>C (p.His297Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002527986]|Hereditary cancer-predisposing syndrome [RCV000566314] |
Chr11:94470598 [GRCh38] Chr11:94203764 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*1304A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000344106] |
Chr11:94418821 [GRCh38] Chr11:94151987 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*630TC[14] |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV000345538] |
Chr11:94419466..94419467 [GRCh38] Chr11:94152632..94152633 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*1661A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000348912] |
Chr11:94418464 [GRCh38] Chr11:94151630 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*660C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000354141] |
Chr11:94419465 [GRCh38] Chr11:94152631 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1868-4C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000356327]|Ataxia-telangiectasia-like disorder [RCV002229956]|Hereditary cancer-predisposing syndrome [RCV001013455] |
Chr11:94437239 [GRCh38] Chr11:94170405 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.*741A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000359888] |
Chr11:94419384 [GRCh38] Chr11:94152550 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*189G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000362011] |
Chr11:94419936 [GRCh38] Chr11:94153102 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.*2444A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000363439] |
Chr11:94417681 [GRCh38] Chr11:94150847 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.*997A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000366112] |
Chr11:94419128 [GRCh38] Chr11:94152294 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.545-13A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000366150]|Ataxia-telangiectasia-like disorder [RCV002520777] |
Chr11:94476416 [GRCh38] Chr11:94209582 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.18A>T (p.Ala6=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000368218]|Hereditary cancer-predisposing syndrome [RCV000575761]|not provided [RCV004567851] |
Chr11:94492784 [GRCh38] Chr11:94225950 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.*2662A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000369204] |
Chr11:94417463 [GRCh38] Chr11:94150629 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NC_000011.10:g.94493863C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000374171]|not provided [RCV001612969] |
Chr11:94493863 [GRCh38] Chr11:94227029 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.*1766G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000374444] |
Chr11:94418359 [GRCh38] Chr11:94151525 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.*630TC[16] |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV000261725] |
Chr11:94419465..94419466 [GRCh38] Chr11:94152631..94152632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*910dup |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV000264388] |
Chr11:94419214..94419215 [GRCh38] Chr11:94152380..94152381 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2258G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000376307] |
Chr11:94417867 [GRCh38] Chr11:94151033 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2067A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000380273] |
Chr11:94418058 [GRCh38] Chr11:94151224 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NM_005591.4(MRE11):c.*630TC[18] |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV000385521] |
Chr11:94419465..94419466 [GRCh38] Chr11:94152631..94152632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.780G>T (p.Leu260=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000567421] |
Chr11:94471639 [GRCh38] Chr11:94204805 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.*2178A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000266016] |
Chr11:94417947 [GRCh38] Chr11:94151113 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*671C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000267499] |
Chr11:94419454 [GRCh38] Chr11:94152620 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*659CT[6]CCC[1] |
insertion |
Ataxia-telangiectasia-like disorder 1 [RCV000389620] |
Chr11:94419465..94419466 [GRCh38] Chr11:94152631..94152632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*183G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000390025]|not provided [RCV004706855] |
Chr11:94419942 [GRCh38] Chr11:94153108 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.*1554C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000394643] |
Chr11:94418571 [GRCh38] Chr11:94151737 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*628G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000398176] |
Chr11:94419497 [GRCh38] Chr11:94152663 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.*1086A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000399609] |
Chr11:94419039 [GRCh38] Chr11:94152205 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2320T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000271201] |
Chr11:94417805 [GRCh38] Chr11:94150971 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.-106+8C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000273871] |
Chr11:94493783 [GRCh38] Chr11:94226949 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*442A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000399980]|not provided [RCV004706854] |
Chr11:94419683 [GRCh38] Chr11:94152849 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.*2703A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000400768] |
Chr11:94417422 [GRCh38] Chr11:94150588 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1783+8C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000553282] |
Chr11:94447211 [GRCh38] Chr11:94180377 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.*2501A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000276984]|not provided [RCV001683237] |
Chr11:94417624 [GRCh38] Chr11:94150790 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.*1743dup |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV000282301] |
Chr11:94418381..94418382 [GRCh38] Chr11:94151547..94151548 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.914G>A (p.Arg305Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000287129]|Ataxia-telangiectasia-like disorder [RCV001217476]|Hereditary cancer-predisposing syndrome [RCV001018917] |
Chr11:94470574 [GRCh38] Chr11:94203740 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*659CT[7]CCC[1] |
insertion |
Ataxia-telangiectasia-like disorder 1 [RCV000288194] |
Chr11:94419465..94419466 [GRCh38] Chr11:94152631..94152632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*511G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000291543] |
Chr11:94419614 [GRCh38] Chr11:94152780 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.*630TC[20] |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV000293610] |
Chr11:94419465..94419466 [GRCh38] Chr11:94152631..94152632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.585T>C (p.Asn195=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000302157]|Hereditary cancer-predisposing syndrome [RCV002461067] |
Chr11:94476363 [GRCh38] Chr11:94209529 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.*848A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000303200] |
Chr11:94419277 [GRCh38] Chr11:94152443 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1091G>T (p.Arg364Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470754]|Ataxia-telangiectasia-like disorder [RCV002232294]|Hereditary cancer-predisposing syndrome [RCV001017252]|not provided [RCV005000170] |
Chr11:94467820 [GRCh38] Chr11:94200986 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1104C>G (p.Asp368Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000566117] |
Chr11:94464234 [GRCh38] Chr11:94197400 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1047_1048delinsAA (p.Glu350Lys) |
indel |
Hereditary cancer-predisposing syndrome [RCV000566551] |
Chr11:94467863..94467864 [GRCh38] Chr11:94201029..94201030 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.587A>G (p.Lys196Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000813661]|Hereditary cancer-predisposing syndrome [RCV000566785] |
Chr11:94476361 [GRCh38] Chr11:94209527 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.605G>A (p.Arg202Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569107] |
Chr11:94476343 [GRCh38] Chr11:94209509 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-2A>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569190] |
Chr11:94461038 [GRCh38] Chr11:94194204 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1965T>C (p.Ile655=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591752]|Hereditary cancer-predisposing syndrome [RCV000569011]|not provided [RCV005000285] |
Chr11:94435861 [GRCh38] Chr11:94169027 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.394C>T (p.Pro132Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003465198]|Ataxia-telangiectasia-like disorder [RCV002231526]|Hereditary cancer-predisposing syndrome [RCV000569936] |
Chr11:94479682 [GRCh38] Chr11:94212848 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.9:g.(?_94194092)_(94212937_?)dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV000815907] |
Chr11:94460926..94479771 [GRCh38] Chr11:94194092..94212937 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1875A>C (p.Lys625Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231810]|Hereditary cancer-predisposing syndrome [RCV001013491]|not provided [RCV002473052] |
Chr11:94437228 [GRCh38] Chr11:94170394 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.433A>G (p.Ser145Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571823] |
Chr11:94478846 [GRCh38] Chr11:94212012 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1420G>A (p.Val474Met) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000537357]|Ataxia-telangiectasia-like disorder [RCV001201393]|Hereditary cancer-predisposing syndrome [RCV001011506] |
Chr11:94459488 [GRCh38] Chr11:94192654 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.531G>A (p.Ala177=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001393049]|Hereditary cancer-predisposing syndrome [RCV000573006] |
Chr11:94478748 [GRCh38] Chr11:94211914 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1551T>G (p.Asp517Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232296]|Hereditary cancer-predisposing syndrome [RCV002461305] |
Chr11:94456288 [GRCh38] Chr11:94189454 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.681C>T (p.Asn227=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001506341]|Hereditary cancer-predisposing syndrome [RCV000574850] |
Chr11:94471738 [GRCh38] Chr11:94204904 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1760G>A (p.Arg587Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569345] |
Chr11:94447242 [GRCh38] Chr11:94180408 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1700A>G (p.Asn567Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574897] |
Chr11:94447302 [GRCh38] Chr11:94180468 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1002C>T (p.Ser334=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001458220]|Hereditary cancer-predisposing syndrome [RCV000574911]|MRE11-related disorder [RCV003983127] |
Chr11:94470486 [GRCh38] Chr11:94203652 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2070+14A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000409860]|Ataxia-telangiectasia-like disorder [RCV002230745]|not provided [RCV003237838] |
Chr11:94429897 [GRCh38] Chr11:94163063 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1936G>A (p.Val646Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569403]|not specified [RCV003114695] |
Chr11:94435890 [GRCh38] Chr11:94169056 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1108A>G (p.Ser370Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570882] |
Chr11:94464230 [GRCh38] Chr11:94197396 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1252dup (p.Ile418fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV003465267]|Hereditary cancer-predisposing syndrome [RCV000569572] |
Chr11:94461009..94461010 [GRCh38] Chr11:94194175..94194176 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1317C>T (p.Thr439=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001478517]|Hereditary cancer-predisposing syndrome [RCV000569603] |
Chr11:94460945 [GRCh38] Chr11:94194111 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1784-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575073] |
Chr11:94445895 [GRCh38] Chr11:94179061 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1648T>A (p.Leu550Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571379] |
Chr11:94447354 [GRCh38] Chr11:94180520 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1421T>C (p.Val474Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001059369]|Hereditary cancer-predisposing syndrome [RCV000574415] |
Chr11:94459487 [GRCh38] Chr11:94192653 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1266A>G (p.Ser422=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575163] |
Chr11:94460996 [GRCh38] Chr11:94194162 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.211del (p.Thr71fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000574506] |
Chr11:94486027 [GRCh38] Chr11:94219193 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.795A>G (p.Gln265=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574614] |
Chr11:94471624 [GRCh38] Chr11:94204790 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1937T>C (p.Val646Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001208572]|Hereditary cancer-predisposing syndrome [RCV000568074] |
Chr11:94435889 [GRCh38] Chr11:94169055 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.558T>C (p.Asp186=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568110] |
Chr11:94476390 [GRCh38] Chr11:94209556 [GRCh37] Chr11:11q21 |
likely benign |
GRCh37/hg19 11q21(chr11:94130773-94283185)x1 |
copy number loss |
See cases [RCV000446967] |
Chr11:94130773..94283185 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 |
copy number loss |
See cases [RCV000446395] |
Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
GRCh37/hg19 11q21(chr11:93975926-94529037)x3 |
copy number gain |
See cases [RCV000445949] |
Chr11:93975926..94529037 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.16G>A (p.Ala6Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001307467]|Hereditary cancer-predisposing syndrome [RCV000462838] |
Chr11:94492786 [GRCh38] Chr11:94225952 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1673C>G (p.Ser558Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001304858]|Hereditary cancer-predisposing syndrome [RCV000474047] |
Chr11:94447329 [GRCh38] Chr11:94180495 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1099-4del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001498829] |
Chr11:94464243 [GRCh38] Chr11:94197409 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.677C>T (p.Thr226Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001361779]|Hereditary cancer-predisposing syndrome [RCV000466940] |
Chr11:94471742 [GRCh38] Chr11:94204908 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1800G>T (p.Glu600Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003133268]|Ataxia-telangiectasia-like disorder [RCV000627769]|Hereditary cancer-predisposing syndrome [RCV000463914]|not provided [RCV002480390] |
Chr11:94445877 [GRCh38] Chr11:94179043 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.314A>C (p.Lys105Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000468142] |
Chr11:94485924 [GRCh38] Chr11:94219090 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.677C>G (p.Thr226Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002230346]|Hereditary cancer-predisposing syndrome [RCV001025635]|Ovarian cancer [RCV003153617] |
Chr11:94471742 [GRCh38] Chr11:94204908 [GRCh37] Chr11:11q21 |
benign|uncertain significance |
NC_000011.10:g.94498091C>G |
single nucleotide variant |
not provided [RCV004707287]|not specified [RCV000454644] |
Chr11:94498091 [GRCh38] Chr11:94231257 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1501-4C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001322909]|Hereditary cancer-predisposing syndrome [RCV000456239]|not specified [RCV003155190] |
Chr11:94456342 [GRCh38] Chr11:94189508 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1799A>G (p.Glu600Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001326857] |
Chr11:94445878 [GRCh38] Chr11:94179044 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.488A>C (p.Asp163Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001034644]|Hereditary cancer-predisposing syndrome [RCV000475404] |
Chr11:94478791 [GRCh38] Chr11:94211957 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.49G>C (p.Val17Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002230785] |
Chr11:94490937 [GRCh38] Chr11:94224103 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1546G>C (p.Asp516His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001312898] |
Chr11:94456293 [GRCh38] Chr11:94189459 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.230A>T (p.Glu77Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001034661]|Hereditary cancer-predisposing syndrome [RCV000468523] |
Chr11:94486008 [GRCh38] Chr11:94219174 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.775C>G (p.Gln259Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001351570]|Hereditary cancer-predisposing syndrome [RCV000476289] |
Chr11:94471644 [GRCh38] Chr11:94204810 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1822T>G (p.Ser608Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000461337]|Hereditary cancer-predisposing syndrome [RCV003168786] |
Chr11:94445855 [GRCh38] Chr11:94179021 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.402+10G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000461420] |
Chr11:94479664 [GRCh38] Chr11:94212830 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1808C>T (p.Thr603Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001351814]|Hereditary cancer-predisposing syndrome [RCV000461449]|not provided [RCV001357392] |
Chr11:94445869 [GRCh38] Chr11:94179035 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098+8C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000472672]|not specified [RCV003987547] |
Chr11:94467805 [GRCh38] Chr11:94200971 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.299A>C (p.Asn100Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001361387]|Hereditary cancer-predisposing syndrome [RCV000568366] |
Chr11:94485939 [GRCh38] Chr11:94219105 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1788C>T (p.Asp596=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568466] |
Chr11:94445889 [GRCh38] Chr11:94179055 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.845+7G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001462097] |
Chr11:94471567 [GRCh38] Chr11:94204733 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1341A>T (p.Ser447=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001496596]|Hereditary cancer-predisposing syndrome [RCV001010950] |
Chr11:94459567 [GRCh38] Chr11:94192733 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1927-9C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000473385]|MRE11-related disorder [RCV003899968] |
Chr11:94435908 [GRCh38] Chr11:94169074 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1282A>G (p.Arg428Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001315026] |
Chr11:94460980 [GRCh38] Chr11:94194146 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1935G>A (p.Glu645=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001461225]|Hereditary cancer-predisposing syndrome [RCV002461221] |
Chr11:94435891 [GRCh38] Chr11:94169057 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1259A>C (p.Lys420Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001305495]|Hereditary cancer-predisposing syndrome [RCV000458741]|not provided [RCV003333987] |
Chr11:94461003 [GRCh38] Chr11:94194169 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.21-9T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001441199] |
Chr11:94490974 [GRCh38] Chr11:94224140 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1100T>G (p.Val367Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001344103]|Hereditary cancer-predisposing syndrome [RCV000473674] |
Chr11:94464238 [GRCh38] Chr11:94197404 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1694C>T (p.Ala565Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000568551] |
Chr11:94447308 [GRCh38] Chr11:94180474 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 |
copy number loss |
See cases [RCV000510457] |
Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_005591.4(MRE11):c.1410T>C (p.Ile470=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000564496] |
Chr11:94459498 [GRCh38] Chr11:94192664 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2008T>A (p.Ser670Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569460] |
Chr11:94429973 [GRCh38] Chr11:94163139 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1195T>A (p.Phe399Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233075] |
Chr11:94464143 [GRCh38] Chr11:94197309 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.208A>G (p.Lys70Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569700]|not provided [RCV005000267] |
Chr11:94486030 [GRCh38] Chr11:94219196 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1318G>T (p.Ala440Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000765028]|Ataxia-telangiectasia-like disorder [RCV001343633]|Hereditary cancer-predisposing syndrome [RCV000572732] |
Chr11:94460944 [GRCh38] Chr11:94194110 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2085T>A (p.Asp695Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575272] |
Chr11:94420167 [GRCh38] Chr11:94153333 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1896C>G (p.Ser632=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575278] |
Chr11:94437207 [GRCh38] Chr11:94170373 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1351G>C (p.Glu451Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302102] |
Chr11:94459557 [GRCh38] Chr11:94192723 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1897C>A (p.Arg633=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592017]|Hereditary cancer-predisposing syndrome [RCV003302103] |
Chr11:94437206 [GRCh38] Chr11:94170372 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1427A>G (p.Tyr476Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302105] |
Chr11:94459481 [GRCh38] Chr11:94192647 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1924G>A (p.Glu642Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302106] |
Chr11:94437179 [GRCh38] Chr11:94170345 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1338C>T (p.Leu446=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569902] |
Chr11:94459570 [GRCh38] Chr11:94192736 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1281A>T (p.Leu427Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232401]|Hereditary cancer-predisposing syndrome [RCV000575296] |
Chr11:94460981 [GRCh38] Chr11:94194147 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1194T>A (p.Phe398Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232659]|Hereditary cancer-predisposing syndrome [RCV000575404] |
Chr11:94464144 [GRCh38] Chr11:94197310 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1426T>C (p.Tyr476His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757188]|Hereditary cancer-predisposing syndrome [RCV000575422] |
Chr11:94459482 [GRCh38] Chr11:94192648 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.673A>G (p.Ser225Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003459286]|Hereditary cancer-predisposing syndrome [RCV000575432] |
Chr11:94471746 [GRCh38] Chr11:94204912 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.941T>C (p.Leu314Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575466] |
Chr11:94470547 [GRCh38] Chr11:94203713 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1605G>A (p.Glu535=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575510] |
Chr11:94447397 [GRCh38] Chr11:94180563 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.701T>C (p.Leu234Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005010546]|Ataxia-telangiectasia-like disorder [RCV005091382]|Hereditary cancer-predisposing syndrome [RCV000570059] |
Chr11:94471718 [GRCh38] Chr11:94204884 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1253T>A (p.Ile418Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003459288]|Ataxia-telangiectasia-like disorder [RCV005091304]|Hereditary cancer-predisposing syndrome [RCV000570084] |
Chr11:94461009 [GRCh38] Chr11:94194175 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2119A>G (p.Arg707Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570149] |
Chr11:94420133 [GRCh38] Chr11:94153299 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2022C>A (p.Ile674=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757192]|Hereditary cancer-predisposing syndrome [RCV000573081] |
Chr11:94429959 [GRCh38] Chr11:94163125 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1195T>C (p.Phe399Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003465235]|Ataxia-telangiectasia-like disorder [RCV002528133]|Hereditary cancer-predisposing syndrome [RCV000575524] |
Chr11:94464143 [GRCh38] Chr11:94197309 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.423G>A (p.Leu141=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000802897]|Hereditary cancer-predisposing syndrome [RCV000575660] |
Chr11:94478856 [GRCh38] Chr11:94212022 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.785A>C (p.Tyr262Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575705] |
Chr11:94471634 [GRCh38] Chr11:94204800 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1438A>G (p.Lys480Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575717] |
Chr11:94459470 [GRCh38] Chr11:94192636 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1073C>A (p.Pro358Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232641]|Hereditary cancer-predisposing syndrome [RCV000570353] |
Chr11:94467838 [GRCh38] Chr11:94201004 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.371G>T (p.Ser124Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570395] |
Chr11:94479705 [GRCh38] Chr11:94212871 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2024T>C (p.Met675Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001051828]|Hereditary cancer-predisposing syndrome [RCV000573180]|not provided [RCV005000242] |
Chr11:94429957 [GRCh38] Chr11:94163123 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.402G>A (p.Gly134=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573247] |
Chr11:94479674 [GRCh38] Chr11:94212840 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1284G>A (p.Arg428=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591751]|Hereditary cancer-predisposing syndrome [RCV000573248] |
Chr11:94460978 [GRCh38] Chr11:94194144 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1414G>T (p.Glu472Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001052429]|Hereditary cancer-predisposing syndrome [RCV000575912] |
Chr11:94459494 [GRCh38] Chr11:94192660 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.523A>C (p.Lys175Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000575959] |
Chr11:94478756 [GRCh38] Chr11:94211922 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1898G>A (p.Arg633Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569107]|Ataxia-telangiectasia-like disorder [RCV000701480]|Hereditary cancer-predisposing syndrome [RCV000570619] |
Chr11:94437205 [GRCh38] Chr11:94170371 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1634T>C (p.Leu545Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757189]|Hereditary cancer-predisposing syndrome [RCV000573395] |
Chr11:94447368 [GRCh38] Chr11:94180534 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1316C>T (p.Thr439Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000576134] |
Chr11:94460946 [GRCh38] Chr11:94194112 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.32A>G (p.Asn11Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233072]|Hereditary cancer-predisposing syndrome [RCV004944042] |
Chr11:94490954 [GRCh38] Chr11:94224120 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.673A>C (p.Ser225Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000642455]|Hereditary cancer-predisposing syndrome [RCV001025594] |
Chr11:94471746 [GRCh38] Chr11:94204912 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1868-7A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001499695] |
Chr11:94437242 [GRCh38] Chr11:94170408 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1900A>G (p.Asn634Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570792] |
Chr11:94437203 [GRCh38] Chr11:94170369 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1253T>C (p.Ile418Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757191]|Hereditary cancer-predisposing syndrome [RCV000570794] |
Chr11:94461009 [GRCh38] Chr11:94194175 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.229G>A (p.Glu77Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569155]|Dystonic disorder [RCV000626884]|Hereditary cancer-predisposing syndrome [RCV000573517]|not provided [RCV005000268] |
Chr11:94486009 [GRCh38] Chr11:94219175 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1532A>G (p.Asn511Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302112] |
Chr11:94456307 [GRCh38] Chr11:94189473 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1361T>C (p.Met454Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302113] |
Chr11:94459547 [GRCh38] Chr11:94192713 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.402+2_402+3delinsGGG |
indel |
Ataxia-telangiectasia-like disorder [RCV001247634]|Hereditary cancer-predisposing syndrome [RCV000571035] |
Chr11:94479671..94479672 [GRCh38] Chr11:94212837..94212838 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.692A>G (p.Glu231Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005056216]|Hereditary cancer-predisposing syndrome [RCV000571063] |
Chr11:94471727 [GRCh38] Chr11:94204893 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1496A>C (p.Glu499Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571087] |
Chr11:94459412 [GRCh38] Chr11:94192578 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1762G>A (p.Gly588Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232399]|Hereditary cancer-predisposing syndrome [RCV000571122] |
Chr11:94447240 [GRCh38] Chr11:94180406 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.351C>T (p.Asn117=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571123] |
Chr11:94479725 [GRCh38] Chr11:94212891 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1555G>T (p.Val519Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569152]|Ataxia-telangiectasia-like disorder [RCV000692253]|Hereditary cancer-predisposing syndrome [RCV000573775] |
Chr11:94456284 [GRCh38] Chr11:94189450 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1061A>G (p.Asn354Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300635] |
Chr11:94467850 [GRCh38] Chr11:94201016 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.626C>T (p.Ser209Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231811]|Hereditary cancer-predisposing syndrome [RCV004943967] |
Chr11:94476322 [GRCh38] Chr11:94209488 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1408A>G (p.Ile470Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001349029]|Hereditary cancer-predisposing syndrome [RCV000571233] |
Chr11:94459500 [GRCh38] Chr11:94192666 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1151A>T (p.Lys384Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232447]|Hereditary cancer-predisposing syndrome [RCV000573893]|not specified [RCV002469206] |
Chr11:94464187 [GRCh38] Chr11:94197353 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.154-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573906] |
Chr11:94486085 [GRCh38] Chr11:94219251 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1096C>A (p.Arg366=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000642465]|Hereditary cancer-predisposing syndrome [RCV000574053] |
Chr11:94467815 [GRCh38] Chr11:94200981 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1869del (p.Phe624fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000571911] |
Chr11:94437234 [GRCh38] Chr11:94170400 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1763G>A (p.Gly588Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001055653]|Hereditary cancer-predisposing syndrome [RCV000572160] |
Chr11:94447239 [GRCh38] Chr11:94180405 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1448G>T (p.Arg483Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574613] |
Chr11:94459460 [GRCh38] Chr11:94192626 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1920T>C (p.Tyr640=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001448707]|Hereditary cancer-predisposing syndrome [RCV000574661] |
Chr11:94437183 [GRCh38] Chr11:94170349 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.797C>G (p.Pro266Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574671] |
Chr11:94471622 [GRCh38] Chr11:94204788 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1604A>G (p.Glu535Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572330] |
Chr11:94447398 [GRCh38] Chr11:94180564 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098A>G (p.Arg366=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572380] |
Chr11:94467813 [GRCh38] Chr11:94200979 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1727G>C (p.Arg576Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302115] |
Chr11:94447275 [GRCh38] Chr11:94180441 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1672T>C (p.Ser558Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302118] |
Chr11:94447330 [GRCh38] Chr11:94180496 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.473C>A (p.Ser158Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570299] |
Chr11:94478806 [GRCh38] Chr11:94211972 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2023A>T (p.Met675Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231527]|Hereditary cancer-predisposing syndrome [RCV000570333] |
Chr11:94429958 [GRCh38] Chr11:94163124 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.49G>A (p.Val17Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233070] |
Chr11:94490937 [GRCh38] Chr11:94224103 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.734A>T (p.His245Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000642456]|Hereditary cancer-predisposing syndrome [RCV002461948] |
Chr11:94471685 [GRCh38] Chr11:94204851 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.597A>G (p.Thr199=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002234532]|Hereditary cancer-predisposing syndrome [RCV001024738] |
Chr11:94476351 [GRCh38] Chr11:94209517 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.123_125del (p.Asp41del) |
deletion |
Ataxia-telangiectasia-like disorder [RCV002234531] |
Chr11:94490861..94490863 [GRCh38] Chr11:94224027..94224029 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.331T>G (p.Tyr111Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233074]|Hereditary cancer-predisposing syndrome [RCV002461949] |
Chr11:94479745 [GRCh38] Chr11:94212911 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1369G>A (p.Ala457Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004568425]|Ataxia-telangiectasia-like disorder [RCV002233076] |
Chr11:94459539 [GRCh38] Chr11:94192705 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.20+8C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000642466]|Ataxia-telangiectasia-like disorder [RCV002233077] |
Chr11:94492774 [GRCh38] Chr11:94225940 [GRCh37] Chr11:11q21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005591.4(MRE11):c.1241T>C (p.Phe414Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571814] |
Chr11:94461021 [GRCh38] Chr11:94194187 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1109G>A (p.Ser370Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000574373] |
Chr11:94464229 [GRCh38] Chr11:94197395 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1496A>T (p.Glu499Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003465200]|Hereditary cancer-predisposing syndrome [RCV000572162] |
Chr11:94459412 [GRCh38] Chr11:94192578 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1783+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000569342] |
Chr11:94447215 [GRCh38] Chr11:94180381 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.437G>T (p.Cys146Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572313] |
Chr11:94478842 [GRCh38] Chr11:94212008 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003465199]|Ataxia-telangiectasia-like disorder [RCV002232092]|Hereditary cancer-predisposing syndrome [RCV000572406]|not provided [RCV005000266] |
Chr11:94447249 [GRCh38] Chr11:94180415 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.518G>T (p.Ser173Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572450] |
Chr11:94478761 [GRCh38] Chr11:94211927 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.873G>A (p.Gly291=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001475954]|Hereditary cancer-predisposing syndrome [RCV000569816] |
Chr11:94470615 [GRCh38] Chr11:94203781 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1907C>T (p.Thr636Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000572735] |
Chr11:94437196 [GRCh38] Chr11:94170362 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.926T>C (p.Met309Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570106] |
Chr11:94470562 [GRCh38] Chr11:94203728 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.256G>A (p.Asp86Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470820]|Ataxia-telangiectasia-like disorder [RCV000642444]|Hereditary breast ovarian cancer syndrome [RCV002225667]|Hereditary cancer-predisposing syndrome [RCV000570518] |
Chr11:94485982 [GRCh38] Chr11:94219148 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.564G>T (p.Arg188Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000570569] |
Chr11:94476384 [GRCh38] Chr11:94209550 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.330C>T (p.Asn110=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002231612]|Hereditary cancer-predisposing syndrome [RCV000570817] |
Chr11:94479746 [GRCh38] Chr11:94212912 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.474T>C (p.Ser158=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232138]|Hereditary cancer-predisposing syndrome [RCV000573647] |
Chr11:94478805 [GRCh38] Chr11:94211971 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.376C>T (p.His126Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293374] |
Chr11:94479700 [GRCh38] Chr11:94212866 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2052T>A (p.Val684=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293375] |
Chr11:94429929 [GRCh38] Chr11:94163095 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1652C>T (p.Ala551Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293376] |
Chr11:94447350 [GRCh38] Chr11:94180516 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.33C>T (p.Asn11=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001446965]|Hereditary cancer-predisposing syndrome [RCV000571349] |
Chr11:94490953 [GRCh38] Chr11:94224119 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.*1T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000573908] |
Chr11:94420124 [GRCh38] Chr11:94153290 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1273A>T (p.Thr425Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001047543]|Hereditary cancer-predisposing syndrome [RCV000571516] |
Chr11:94460989 [GRCh38] Chr11:94194155 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1720del (p.Arg574fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV000573958] |
Chr11:94447282 [GRCh38] Chr11:94180448 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1191T>C (p.His397=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001475422]|Hereditary cancer-predisposing syndrome [RCV000561116]|not provided [RCV003886414] |
Chr11:94464147 [GRCh38] Chr11:94197313 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.946A>G (p.Asn316Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470755]|Ataxia-telangiectasia-like disorder [RCV000548856]|Hereditary cancer-predisposing syndrome [RCV002461308] |
Chr11:94470542 [GRCh38] Chr11:94203708 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1716A>G (p.Arg572=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000571899] |
Chr11:94447286 [GRCh38] Chr11:94180452 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.16G>C (p.Ala6Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233071]|Hereditary cancer-predisposing syndrome [RCV002461946] |
Chr11:94492786 [GRCh38] Chr11:94225952 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.391G>T (p.Asp131Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233509]|Hereditary cancer-predisposing syndrome [RCV002461947]|not provided [RCV000992328] |
Chr11:94479685 [GRCh38] Chr11:94212851 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1327-9A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002234530] |
Chr11:94459590 [GRCh38] Chr11:94192756 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.302T>A (p.Phe101Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233073] |
Chr11:94485936 [GRCh38] Chr11:94219102 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1443A>C (p.Thr481=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233510]|Hereditary cancer-predisposing syndrome [RCV002461950] |
Chr11:94459465 [GRCh38] Chr11:94192631 [GRCh37] Chr11:11q21 |
likely benign |
NC_000011.10:g.(?_94420119)_(94437241_?)del |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV000642472] |
Chr11:94420119..94437241 [GRCh38] Chr11:94153285..94170407 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-5T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000663303]|Hereditary cancer-predisposing syndrome [RCV001010426] |
Chr11:94461041 [GRCh38] Chr11:94194207 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1204A>G (p.Arg402Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001211871]|Hereditary cancer-predisposing syndrome [RCV002462828] |
Chr11:94464134 [GRCh38] Chr11:94197300 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q21(chr11:94130773-94283185)x1 |
copy number loss |
not provided [RCV000683309] |
Chr11:94130773..94283185 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q21(chr11:93934796-94301509)x3 |
copy number gain |
not provided [RCV000683333] |
Chr11:93934796..94301509 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 |
copy number gain |
not provided [RCV000683374] |
Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
GRCh37/hg19 11q21(chr11:93989761-94819546)x3 |
copy number gain |
not provided [RCV000683351] |
Chr11:93989761..94819546 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q21(chr11:93975926-94626160)x3 |
copy number gain |
not provided [RCV000683345] |
Chr11:93975926..94626160 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.365T>G (p.Val122Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233164] |
Chr11:94479711 [GRCh38] Chr11:94212877 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.10:g.(?_94476279)_(94479771_?)del |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV000707895]|Ataxia-telangiectasia-like disorder [RCV001378464] |
Chr11:94476279..94479771 [GRCh38] Chr11:94209445..94212937 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1036A>G (p.Asn346Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232986]|Hereditary cancer-predisposing syndrome [RCV001017091] |
Chr11:94467875 [GRCh38] Chr11:94201041 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1801A>C (p.Thr601Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233243]|Hereditary cancer-predisposing syndrome [RCV001013229] |
Chr11:94445876 [GRCh38] Chr11:94179042 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.455A>C (p.His152Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233449]|Hereditary cancer-predisposing syndrome [RCV000708711] |
Chr11:94478824 [GRCh38] Chr11:94211990 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.493A>T (p.Ser165Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000708712] |
Chr11:94478786 [GRCh38] Chr11:94211952 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.76A>G (p.Met26Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000708713] |
Chr11:94490910 [GRCh38] Chr11:94224076 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.44T>C (p.Ile15Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000690458]|Hereditary cancer-predisposing syndrome [RCV001022595] |
Chr11:94490942 [GRCh38] Chr11:94224108 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1268A>C (p.Glu423Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002232931]|Hereditary cancer-predisposing syndrome [RCV001010664] |
Chr11:94460994 [GRCh38] Chr11:94194160 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.231G>T (p.Glu77Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233392]|Hereditary cancer-predisposing syndrome [RCV004944124] |
Chr11:94486007 [GRCh38] Chr11:94219173 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1261C>T (p.Pro421Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002233327] |
Chr11:94461001 [GRCh38] Chr11:94194167 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_005591.4(MRE11):c.315-281G>A |
single nucleotide variant |
not provided [RCV001530714] |
Chr11:94480042 [GRCh38] Chr11:94213208 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1564-251dup |
duplication |
not provided [RCV001541335] |
Chr11:94447665..94447666 [GRCh38] Chr11:94180831..94180832 [GRCh37] Chr11:11q21 |
benign |
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 |
copy number loss |
not provided [RCV000737595] |
Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 |
copy number gain |
not provided [RCV000750120] |
Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
NM_005591.4(MRE11):c.845+110C>A |
single nucleotide variant |
not provided [RCV001540196] |
Chr11:94471464 [GRCh38] Chr11:94204630 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1501-178del |
deletion |
not provided [RCV001691296] |
Chr11:94456516 [GRCh38] Chr11:94189682 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1099-118_1099-115del |
microsatellite |
not provided [RCV001572477] |
Chr11:94464354..94464357 [GRCh38] Chr11:94197520..94197523 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1210C>A (p.Gln404Lys) |
single nucleotide variant |
not provided [RCV001572729] |
Chr11:94464128 [GRCh38] Chr11:94197294 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1564-251_1564-249dup |
duplication |
not provided [RCV001586378] |
Chr11:94447665..94447666 [GRCh38] Chr11:94180831..94180832 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV000985223]|Hereditary cancer-predisposing syndrome [RCV002462243] |
Chr11:94464172 [GRCh38] Chr11:94197338 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.21-143G>C |
single nucleotide variant |
not provided [RCV001709910] |
Chr11:94491108 [GRCh38] Chr11:94224274 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.315-228G>C |
single nucleotide variant |
not provided [RCV001575968] |
Chr11:94479989 [GRCh38] Chr11:94213155 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.-106+375T>C |
single nucleotide variant |
not provided [RCV001648660] |
Chr11:94493416 [GRCh38] Chr11:94226582 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.154-11C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001114038]|Ataxia-telangiectasia-like disorder [RCV002558136] |
Chr11:94486095 [GRCh38] Chr11:94219261 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.489C>T (p.Asp163=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001413999]|Hereditary cancer-predisposing syndrome [RCV002462224] |
Chr11:94478790 [GRCh38] Chr11:94211956 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1564-10T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001440432] |
Chr11:94447448 [GRCh38] Chr11:94180614 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1014G>A (p.Glu338=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001447976]|Hereditary cancer-predisposing syndrome [RCV002462227] |
Chr11:94470474 [GRCh38] Chr11:94203640 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1948G>C (p.Asp650His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001062634]|Hereditary breast ovarian cancer syndrome [RCV002225790]|Hereditary cancer-predisposing syndrome [RCV002462306] |
Chr11:94435878 [GRCh38] Chr11:94169044 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.304_305delinsAC (p.Gly102Thr) |
indel |
Ataxia-telangiectasia-like disorder [RCV001038023] |
Chr11:94485933..94485934 [GRCh38] Chr11:94219099..94219100 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1734_1742del (p.Gly579_Gly581del) |
deletion |
Ataxia-telangiectasia-like disorder [RCV001038892]|Hereditary cancer-predisposing syndrome [RCV002462268] |
Chr11:94447260..94447268 [GRCh38] Chr11:94180426..94180434 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV000995807]|Ataxia-telangiectasia-like disorder [RCV001201787]|Hereditary cancer-predisposing syndrome [RCV002462251] |
Chr11:94471598..94471599 [GRCh38] Chr11:94204764..94204765 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.59A>G (p.Asp20Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005056510]|Hereditary cancer-predisposing syndrome [RCV002462125]|not provided [RCV003227855] |
Chr11:94490927 [GRCh38] Chr11:94224093 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1766G>A (p.Gly589Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001043437]|Hereditary cancer-predisposing syndrome [RCV002462273] |
Chr11:94447236 [GRCh38] Chr11:94180402 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2064A>G (p.Ser688=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001501408]|Hereditary cancer-predisposing syndrome [RCV002462226] |
Chr11:94429917 [GRCh38] Chr11:94163083 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1501-8T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000876003] |
Chr11:94456346 [GRCh38] Chr11:94189512 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1327-9A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001393510] |
Chr11:94459590 [GRCh38] Chr11:94192756 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1056G>C (p.Leu352=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001498444]|Hereditary cancer-predisposing syndrome [RCV004029672] |
Chr11:94467855 [GRCh38] Chr11:94201021 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1093C>T (p.Leu365=) |
single nucleotide variant |
not provided [RCV000910111] |
Chr11:94467818 [GRCh38] Chr11:94200984 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.934A>G (p.Ile312Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019194] |
Chr11:94470554 [GRCh38] Chr11:94203720 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1006T>A (p.Cys336Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000822687]|Hereditary cancer-predisposing syndrome [RCV001016969] |
Chr11:94470482 [GRCh38] Chr11:94203648 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.388G>A (p.Asp130Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000815869] |
Chr11:94479688 [GRCh38] Chr11:94212854 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1047_1048del (p.Glu350fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV000817556]|not provided [RCV003238242] |
Chr11:94467863..94467864 [GRCh38] Chr11:94201029..94201030 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1731A>C (p.Arg577Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000806799] |
Chr11:94447271 [GRCh38] Chr11:94180437 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1913A>T (p.Lys638Met) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569759]|Ataxia-telangiectasia-like disorder [RCV000821234]|Hereditary cancer-predisposing syndrome [RCV001013674] |
Chr11:94437190 [GRCh38] Chr11:94170356 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.970G>C (p.Asp324His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000797504] |
Chr11:94470518 [GRCh38] Chr11:94203684 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1500+1153_1563+1027del |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV000791290] |
Chr11:94455249..94458255 [GRCh38] Chr11:94188415..94191421 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.2117A>G (p.Asn706Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000801681] |
Chr11:94420135 [GRCh38] Chr11:94153301 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1658A>C (p.Gln553Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000821680] |
Chr11:94447344 [GRCh38] Chr11:94180510 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.845+4A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000803715]|Hereditary cancer-predisposing syndrome [RCV002462163] |
Chr11:94471570 [GRCh38] Chr11:94204736 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1004T>C (p.Phe335Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000802112]|Hereditary cancer-predisposing syndrome [RCV001009669] |
Chr11:94470484 [GRCh38] Chr11:94203650 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2065A>C (p.Ser689Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000808476]|Hereditary cancer-predisposing syndrome [RCV004028647] |
Chr11:94429916 [GRCh38] Chr11:94163082 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1163G>C (p.Arg388Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467512]|Ataxia-telangiectasia-like disorder [RCV000822676]|Hereditary cancer-predisposing syndrome [RCV001010067] |
Chr11:94464175 [GRCh38] Chr11:94197341 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.715G>C (p.Asp239His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000813026]|Hereditary cancer-predisposing syndrome [RCV002462178] |
Chr11:94471704 [GRCh38] Chr11:94204870 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1243G>C (p.Gly415Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000806456] |
Chr11:94461019 [GRCh38] Chr11:94194185 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.153+6T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000807463] |
Chr11:94490827 [GRCh38] Chr11:94223993 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-6T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000821305] |
Chr11:94461042 [GRCh38] Chr11:94194208 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1082C>G (p.Pro361Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000805202] |
Chr11:94467829 [GRCh38] Chr11:94200995 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.941T>G (p.Leu314Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019332] |
Chr11:94470547 [GRCh38] Chr11:94203713 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.370A>G (p.Ser124Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020937] |
Chr11:94479706 [GRCh38] Chr11:94212872 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.103G>A (p.Asp35Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236073]|Hereditary cancer-predisposing syndrome [RCV001009769] |
Chr11:94490883 [GRCh38] Chr11:94224049 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.976C>T (p.Pro326Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019733] |
Chr11:94470512 [GRCh38] Chr11:94203678 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.329A>G (p.Asn110Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019775] |
Chr11:94479747 [GRCh38] Chr11:94212913 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q21(chr11:94130773-94283185)x1 |
copy number loss |
not provided [RCV000846787] |
Chr11:94130773..94283185 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1087G>A (p.Val363Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000794145]|Hereditary cancer-predisposing syndrome [RCV002462142] |
Chr11:94467824 [GRCh38] Chr11:94200990 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1134T>A (p.Val378=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009969] |
Chr11:94464204 [GRCh38] Chr11:94197370 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1834G>A (p.Val612Met) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000795951]|Hereditary cancer-predisposing syndrome [RCV001013326] |
Chr11:94445843 [GRCh38] Chr11:94179009 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1058G>A (p.Gly353Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569686]|Ataxia-telangiectasia-like disorder [RCV000813023]|Hereditary cancer-predisposing syndrome [RCV001009757] |
Chr11:94467853 [GRCh38] Chr11:94201019 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1501-8T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000813405] |
Chr11:94456346 [GRCh38] Chr11:94189512 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.247T>C (p.Cys83Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000811462]|Hereditary cancer-predisposing syndrome [RCV003166304] |
Chr11:94485991 [GRCh38] Chr11:94219157 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.664A>T (p.Lys222Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569725]|Ataxia-telangiectasia-like disorder [RCV000817012] |
Chr11:94471755 [GRCh38] Chr11:94204921 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.62T>C (p.Ile21Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV000823893]|Hereditary cancer-predisposing syndrome [RCV004639385] |
Chr11:94490924 [GRCh38] Chr11:94224090 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.38T>G (p.Phe13Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001050660]|Hereditary cancer-predisposing syndrome [RCV001021394] |
Chr11:94490948 [GRCh38] Chr11:94224114 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.403-5C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021725] |
Chr11:94478881 [GRCh38] Chr11:94212047 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.427A>G (p.Ile143Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236235]|Hereditary cancer-predisposing syndrome [RCV001022200] |
Chr11:94478852 [GRCh38] Chr11:94212018 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1657C>G (p.Gln553Glu) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030634] |
Chr11:94447345 [GRCh38] Chr11:94180511 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.958A>G (p.Ile320Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003132143]|Hereditary cancer-predisposing syndrome [RCV001019512] |
Chr11:94470530 [GRCh38] Chr11:94203696 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.509A>G (p.Gln170Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002552373]|Hereditary cancer-predisposing syndrome [RCV001023531] |
Chr11:94478770 [GRCh38] Chr11:94211936 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1210C>T (p.Gln404Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003461315]|Hereditary cancer-predisposing syndrome [RCV001010337] |
Chr11:94464128 [GRCh38] Chr11:94197294 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1256C>G (p.Thr419Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010362] |
Chr11:94461006 [GRCh38] Chr11:94194172 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.402+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467663]|Ataxia-telangiectasia-like disorder [RCV002549542]|Hereditary cancer-predisposing syndrome [RCV001021683] |
Chr11:94479673 [GRCh38] Chr11:94212839 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.*2466T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113761] |
Chr11:94417659 [GRCh38] Chr11:94150825 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.*2324G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113762] |
Chr11:94417801 [GRCh38] Chr11:94150967 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2700C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112413] |
Chr11:94417425 [GRCh38] Chr11:94150591 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1007G>A (p.Cys336Tyr) |
single nucleotide variant |
not provided [RCV000992322] |
Chr11:94470481 [GRCh38] Chr11:94203647 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*974C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112502] |
Chr11:94419151 [GRCh38] Chr11:94152317 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.890A>G (p.His297Arg) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030637]|Hereditary cancer-predisposing syndrome [RCV004030913] |
Chr11:94470598 [GRCh38] Chr11:94203764 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.721G>C (p.Val241Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001211178] |
Chr11:94471698 [GRCh38] Chr11:94204864 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.332A>G (p.Tyr111Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001231980]|Hereditary cancer-predisposing syndrome [RCV002462855] |
Chr11:94479744 [GRCh38] Chr11:94212910 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.190G>A (p.Glu64Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001225510]|Hereditary cancer-predisposing syndrome [RCV002462845] |
Chr11:94486048 [GRCh38] Chr11:94219214 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1855T>G (p.Ser619Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001230355] |
Chr11:94445822 [GRCh38] Chr11:94178988 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV000995583]|Ataxia-telangiectasia-like disorder [RCV001205827] |
Chr11:94464225..94464226 [GRCh38] Chr11:94197391..94197392 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.*1174C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110534] |
Chr11:94418951 [GRCh38] Chr11:94152117 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*193T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110618] |
Chr11:94419932 [GRCh38] Chr11:94153098 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.46T>C (p.Leu16=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022925] |
Chr11:94490940 [GRCh38] Chr11:94224106 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.484A>T (p.Ile162Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004570457]|Ataxia-telangiectasia-like disorder [RCV001211130]|Hereditary cancer-predisposing syndrome [RCV002462827] |
Chr11:94478795 [GRCh38] Chr11:94211961 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1972A>C (p.Thr658Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001246581] |
Chr11:94435854 [GRCh38] Chr11:94169020 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2170A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109745] |
Chr11:94417955 [GRCh38] Chr11:94151121 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.-106+11A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110008] |
Chr11:94493780 [GRCh38] Chr11:94226946 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.552del (p.Pro185fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV001210830] |
Chr11:94476396 [GRCh38] Chr11:94209562 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.22G>A (p.Asp8Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003106483]|Hereditary cancer-predisposing syndrome [RCV003368041] |
Chr11:94490964 [GRCh38] Chr11:94224130 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.-105-282G>A |
single nucleotide variant |
not provided [RCV001575844] |
Chr11:94493188 [GRCh38] Chr11:94226354 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.402+145T>C |
single nucleotide variant |
not provided [RCV001568508] |
Chr11:94479529 [GRCh38] Chr11:94212695 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.154-84_154-82dup |
duplication |
not provided [RCV001571519] |
Chr11:94486159..94486160 [GRCh38] Chr11:94219325..94219326 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1867+241T>C |
single nucleotide variant |
not provided [RCV001582200] |
Chr11:94445569 [GRCh38] Chr11:94178735 [GRCh37] Chr11:11q21 |
likely benign |
NC_000011.10:g.94494042T>C |
single nucleotide variant |
not provided [RCV001569237] |
Chr11:94494042 [GRCh38] Chr11:94227208 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+224G>A |
single nucleotide variant |
not provided [RCV001549337] |
Chr11:94463889 [GRCh38] Chr11:94197055 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.544+290T>G |
single nucleotide variant |
not provided [RCV001568213] |
Chr11:94478445 [GRCh38] Chr11:94211611 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+107A>G |
single nucleotide variant |
not provided [RCV001662906] |
Chr11:94476182 [GRCh38] Chr11:94209348 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.71G>C (p.Gly24Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293372] |
Chr11:94490915 [GRCh38] Chr11:94224081 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.565C>T (p.Leu189Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293373] |
Chr11:94476383 [GRCh38] Chr11:94209549 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.790T>C (p.Ser264Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293378] |
Chr11:94471629 [GRCh38] Chr11:94204795 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.159T>C (p.Asp53=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293380] |
Chr11:94486079 [GRCh38] Chr11:94219245 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+333T>C |
single nucleotide variant |
not provided [RCV001596086] |
Chr11:94463780 [GRCh38] Chr11:94196946 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-163G>A |
single nucleotide variant |
not provided [RCV001659504] |
Chr11:94464402 [GRCh38] Chr11:94197568 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.315-34G>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225856]|not provided [RCV001555626] |
Chr11:94479795 [GRCh38] Chr11:94212961 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.403-112T>C |
single nucleotide variant |
not provided [RCV001598442] |
Chr11:94478988 [GRCh38] Chr11:94212154 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1926+195A>G |
single nucleotide variant |
not provided [RCV001555863] |
Chr11:94436982 [GRCh38] Chr11:94170148 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1501-219G>A |
single nucleotide variant |
not provided [RCV001584006] |
Chr11:94456557 [GRCh38] Chr11:94189723 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+203A>T |
single nucleotide variant |
not provided [RCV001561465] |
Chr11:94476086 [GRCh38] Chr11:94209252 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1098+215G>T |
single nucleotide variant |
not provided [RCV001556695] |
Chr11:94467598 [GRCh38] Chr11:94200764 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-26G>C |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225873]|not provided [RCV001611433] |
Chr11:94464265 [GRCh38] Chr11:94197431 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.315-246A>G |
single nucleotide variant |
not provided [RCV001557332] |
Chr11:94480007 [GRCh38] Chr11:94213173 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+23G>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225897]|not provided [RCV001652630] |
Chr11:94464090 [GRCh38] Chr11:94197256 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.660-309A>G |
single nucleotide variant |
not provided [RCV001640040] |
Chr11:94472068 [GRCh38] Chr11:94205234 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1098+212T>C |
single nucleotide variant |
not provided [RCV001643279] |
Chr11:94467601 [GRCh38] Chr11:94200767 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.545-319dup |
duplication |
not provided [RCV001549447] |
Chr11:94476714..94476715 [GRCh38] Chr11:94209880..94209881 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1216G>A (p.Glu406Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463019]|not provided [RCV001573113] |
Chr11:94464122 [GRCh38] Chr11:94197288 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.545-44C>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225914]|not provided [RCV001670735] |
Chr11:94476447 [GRCh38] Chr11:94209613 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.1564-286A>C |
single nucleotide variant |
not provided [RCV001618884] |
Chr11:94447724 [GRCh38] Chr11:94180890 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1226-255C>T |
single nucleotide variant |
not provided [RCV001614435] |
Chr11:94461291 [GRCh38] Chr11:94194457 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.403-212C>A |
single nucleotide variant |
not provided [RCV001585219] |
Chr11:94479088 [GRCh38] Chr11:94212254 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+124_1225+137dup |
duplication |
not provided [RCV001559745] |
Chr11:94463975..94463976 [GRCh38] Chr11:94197141..94197142 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+254A>G |
single nucleotide variant |
not provided [RCV001559771] |
Chr11:94490579 [GRCh38] Chr11:94223745 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.20+141G>A |
single nucleotide variant |
not provided [RCV001673246] |
Chr11:94492641 [GRCh38] Chr11:94225807 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.153+144T>C |
single nucleotide variant |
not provided [RCV001716769] |
Chr11:94490689 [GRCh38] Chr11:94223855 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1225+9G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001454730] |
Chr11:94464104 [GRCh38] Chr11:94197270 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.807A>C (p.Ser269=) |
single nucleotide variant |
not provided [RCV000918602] |
Chr11:94471612 [GRCh38] Chr11:94204778 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1713_1718del (p.569GR[3]) |
deletion |
Ataxia-telangiectasia-like disorder [RCV001222376] |
Chr11:94447284..94447289 [GRCh38] Chr11:94180450..94180455 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1850A>G (p.Asn617Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001242789] |
Chr11:94445827 [GRCh38] Chr11:94178993 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1526A>C (p.Gln509Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012014]|not provided [RCV000992325] |
Chr11:94456313 [GRCh38] Chr11:94189479 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1559G>C (p.Arg520Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002462250]|not provided [RCV000992326] |
Chr11:94456280 [GRCh38] Chr11:94189446 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2658A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112414] |
Chr11:94417467 [GRCh38] Chr11:94150633 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*877A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112504] |
Chr11:94419248 [GRCh38] Chr11:94152414 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1389C>G (p.Asp463Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001245019] |
Chr11:94459519 [GRCh38] Chr11:94192685 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1745A>G (p.Gln582Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001205672]|Hereditary cancer-predisposing syndrome [RCV003163560] |
Chr11:94447257 [GRCh38] Chr11:94180423 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.905A>C (p.His302Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001245495]|Hereditary cancer-predisposing syndrome [RCV002462874] |
Chr11:94470583 [GRCh38] Chr11:94203749 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1326+1del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001241866] |
Chr11:94460935 [GRCh38] Chr11:94194101 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.987C>G (p.Thr329=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019839] |
Chr11:94470501 [GRCh38] Chr11:94203667 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.314+10T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001496716] |
Chr11:94485914 [GRCh38] Chr11:94219080 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.403-146A>G |
single nucleotide variant |
not provided [RCV001556549] |
Chr11:94479022 [GRCh38] Chr11:94212188 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-105C>G |
single nucleotide variant |
not provided [RCV001578013] |
Chr11:94464344 [GRCh38] Chr11:94197510 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1926+102A>G |
single nucleotide variant |
not provided [RCV001563457] |
Chr11:94437075 [GRCh38] Chr11:94170241 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1226-53A>G |
single nucleotide variant |
not provided [RCV001552299] |
Chr11:94461089 [GRCh38] Chr11:94194255 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1563+233A>G |
single nucleotide variant |
not provided [RCV001568962] |
Chr11:94456043 [GRCh38] Chr11:94189209 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.314+62A>G |
single nucleotide variant |
not provided [RCV001556478] |
Chr11:94485862 [GRCh38] Chr11:94219028 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.525G>T (p.Lys175Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002551881]|Hereditary cancer-predisposing syndrome [RCV001023814] |
Chr11:94478754 [GRCh38] Chr11:94211920 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.348C>T (p.Leu116=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020426] |
Chr11:94479728 [GRCh38] Chr11:94212894 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.399A>C (p.Thr133=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021609] |
Chr11:94479677 [GRCh38] Chr11:94212843 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.39T>A (p.Phe13Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021618] |
Chr11:94490947 [GRCh38] Chr11:94224113 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.10:g.94493932G>T |
single nucleotide variant |
not provided [RCV001541088] |
Chr11:94493932 [GRCh38] Chr11:94227098 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1564-251_1564-250dup |
duplication |
not provided [RCV001599185] |
Chr11:94447665..94447666 [GRCh38] Chr11:94180831..94180832 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1868-85_1868-84del |
deletion |
Hereditary breast ovarian cancer syndrome [RCV002225882]|not provided [RCV001621110] |
Chr11:94437319..94437320 [GRCh38] Chr11:94170485..94170486 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1226-101C>A |
single nucleotide variant |
not provided [RCV001608467] |
Chr11:94461137 [GRCh38] Chr11:94194303 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.659+30C>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225865]|not provided [RCV001581741] |
Chr11:94476259 [GRCh38] Chr11:94209425 [GRCh37] Chr11:11q21 |
benign|likely benign |
NM_005591.4(MRE11):c.470T>C (p.Met157Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467669]|Hereditary cancer-predisposing syndrome [RCV001022937] |
Chr11:94478809 [GRCh38] Chr11:94211975 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.-106+315G>T |
single nucleotide variant |
not provided [RCV001637530] |
Chr11:94493476 [GRCh38] Chr11:94226642 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.314+92A>G |
single nucleotide variant |
not provided [RCV001621653] |
Chr11:94485832 [GRCh38] Chr11:94218998 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.315-30G>A |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225864]|not provided [RCV001591519] |
Chr11:94479791 [GRCh38] Chr11:94212957 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.-106+400G>C |
single nucleotide variant |
not provided [RCV001677862] |
Chr11:94493391 [GRCh38] Chr11:94226557 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.-105-279C>T |
single nucleotide variant |
not provided [RCV001617204] |
Chr11:94493185 [GRCh38] Chr11:94226351 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1868-133C>G |
single nucleotide variant |
not provided [RCV001718067] |
Chr11:94437368 [GRCh38] Chr11:94170534 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1017+284C>T |
single nucleotide variant |
not provided [RCV001718083] |
Chr11:94470187 [GRCh38] Chr11:94203353 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.2070+231del |
deletion |
not provided [RCV001588544] |
Chr11:94429680 [GRCh38] Chr11:94162846 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1326+235_1326+237del |
microsatellite |
not provided [RCV001595400] |
Chr11:94460699..94460701 [GRCh38] Chr11:94193865..94193867 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1673C>T (p.Ser558Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012669] |
Chr11:94447329 [GRCh38] Chr11:94180495 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.702G>A (p.Leu234=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002551945]|Hereditary cancer-predisposing syndrome [RCV001025949] |
Chr11:94471717 [GRCh38] Chr11:94204883 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.168G>A (p.Leu56=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012743] |
Chr11:94486070 [GRCh38] Chr11:94219236 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1705G>A (p.Gly569Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005012444]|Hereditary cancer-predisposing syndrome [RCV001012752] |
Chr11:94447297 [GRCh38] Chr11:94180463 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1691C>T (p.Ala564Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012768] |
Chr11:94447311 [GRCh38] Chr11:94180477 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1729A>G (p.Arg577Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004569909]|Ataxia-telangiectasia-like disorder [RCV001212475]|Hereditary cancer-predisposing syndrome [RCV001012872] |
Chr11:94447273 [GRCh38] Chr11:94180439 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1066C>A (p.His356Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009832] |
Chr11:94467845 [GRCh38] Chr11:94201011 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1066C>T (p.His356Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009834] |
Chr11:94467845 [GRCh38] Chr11:94201011 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1772A>C (p.Gln591Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013060] |
Chr11:94447230 [GRCh38] Chr11:94180396 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.748A>G (p.Lys250Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026490] |
Chr11:94471671 [GRCh38] Chr11:94204837 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1820A>G (p.Asn607Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591826]|Hereditary cancer-predisposing syndrome [RCV001013306]|not provided [RCV004998537] |
Chr11:94445857 [GRCh38] Chr11:94179023 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1837T>C (p.Ser613Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013309] |
Chr11:94445840 [GRCh38] Chr11:94179006 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1847G>T (p.Arg616Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591827]|Hereditary cancer-predisposing syndrome [RCV001013401] |
Chr11:94445830 [GRCh38] Chr11:94178996 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1862T>G (p.Ile621Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013437] |
Chr11:94445815 [GRCh38] Chr11:94178981 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1882A>T (p.Arg628Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467610]|Hereditary cancer-predisposing syndrome [RCV001013509] |
Chr11:94437221 [GRCh38] Chr11:94170387 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1244G>A (p.Gly415Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109912]|Hereditary cancer-predisposing syndrome [RCV002258136] |
Chr11:94461018 [GRCh38] Chr11:94194184 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.-42G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110006] |
Chr11:94492843 [GRCh38] Chr11:94226009 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.353T>G (p.Ile118Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001020557] |
Chr11:94479723 [GRCh38] Chr11:94212889 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1956A>G (p.Glu652=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001470396]|Hereditary cancer-predisposing syndrome [RCV001013834] |
Chr11:94435870 [GRCh38] Chr11:94169036 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1960G>T (p.Asp654Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002549396]|Hereditary cancer-predisposing syndrome [RCV001013859] |
Chr11:94435866 [GRCh38] Chr11:94169032 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1989T>C (p.Asp663=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013928] |
Chr11:94435837 [GRCh38] Chr11:94169003 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1989T>G (p.Asp663Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013929] |
Chr11:94435837 [GRCh38] Chr11:94169003 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1994+3A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001325769]|Hereditary cancer-predisposing syndrome [RCV001013959] |
Chr11:94435829 [GRCh38] Chr11:94168995 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2038G>T (p.Val680Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014155] |
Chr11:94429943 [GRCh38] Chr11:94163109 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2065A>T (p.Ser689Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014219] |
Chr11:94429916 [GRCh38] Chr11:94163082 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2048G>A (p.Gly683Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001040083]|Hereditary cancer-predisposing syndrome [RCV001014230] |
Chr11:94429933 [GRCh38] Chr11:94163099 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2070+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014282] |
Chr11:94429907 [GRCh38] Chr11:94163073 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2071G>A (p.Asp691Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001227447]|Hereditary cancer-predisposing syndrome [RCV001014293] |
Chr11:94420181 [GRCh38] Chr11:94153347 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1263T>C (p.Pro421=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010642] |
Chr11:94460999 [GRCh38] Chr11:94194165 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+2T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001784556]|Hereditary cancer-predisposing syndrome [RCV001010421] |
Chr11:94464111 [GRCh38] Chr11:94197277 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.123T>G (p.Asp41Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001292974]|Ataxia-telangiectasia-like disorder [RCV005093061]|Hereditary cancer-predisposing syndrome [RCV001010518] |
Chr11:94490863 [GRCh38] Chr11:94224029 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.246T>C (p.Tyr82=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001505757]|Hereditary cancer-predisposing syndrome [RCV001015463] |
Chr11:94485992 [GRCh38] Chr11:94219158 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.*2531A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113760] |
Chr11:94417594 [GRCh38] Chr11:94150760 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.24T>A (p.Asp8Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015730] |
Chr11:94490962 [GRCh38] Chr11:94224128 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.251T>C (p.Met84Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002549428]|Hereditary cancer-predisposing syndrome [RCV001015831]|MRE11-related disorder [RCV003413803] |
Chr11:94485987 [GRCh38] Chr11:94219153 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.269A>G (p.Gln90Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016344] |
Chr11:94485969 [GRCh38] Chr11:94219135 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2053T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109746] |
Chr11:94418072 [GRCh38] Chr11:94151238 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.*1900C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109747] |
Chr11:94418225 [GRCh38] Chr11:94151391 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*593A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109825] |
Chr11:94419532 [GRCh38] Chr11:94152698 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*429A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001109827] |
Chr11:94419696 [GRCh38] Chr11:94152862 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1326+2T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467593]|Ataxia-telangiectasia-like disorder [RCV002236081]|Hereditary cancer-predisposing syndrome [RCV001011042] |
Chr11:94460934 [GRCh38] Chr11:94194100 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.586A>G (p.Lys196Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002551900]|Hereditary cancer-predisposing syndrome [RCV001024625] |
Chr11:94476362 [GRCh38] Chr11:94209528 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.282C>T (p.Leu94=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236117]|Hereditary cancer-predisposing syndrome [RCV001016710] |
Chr11:94485956 [GRCh38] Chr11:94219122 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1012G>C (p.Glu338Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591829]|Hereditary cancer-predisposing syndrome [RCV001016952] |
Chr11:94470476 [GRCh38] Chr11:94203642 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1022A>G (p.Glu341Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017034]|not provided [RCV002479214] |
Chr11:94467889 [GRCh38] Chr11:94201055 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1048G>A (p.Glu350Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017076] |
Chr11:94467863 [GRCh38] Chr11:94201029 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1409T>C (p.Ile470Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236085]|Hereditary cancer-predisposing syndrome [RCV001011432] |
Chr11:94459499 [GRCh38] Chr11:94192665 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1410T>G (p.Ile470Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011468] |
Chr11:94459498 [GRCh38] Chr11:94192664 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1442C>T (p.Thr481Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236087]|Hereditary cancer-predisposing syndrome [RCV001011603] |
Chr11:94459466 [GRCh38] Chr11:94192632 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs) |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV001386114]|Hereditary cancer-predisposing syndrome [RCV001011611] |
Chr11:94459463..94459464 [GRCh38] Chr11:94192629..94192630 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1054C>G (p.Leu352Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017152] |
Chr11:94467857 [GRCh38] Chr11:94201023 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1112_1127del (p.Gly371fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV002549452]|Hereditary cancer-predisposing syndrome [RCV001017358] |
Chr11:94464211..94464226 [GRCh38] Chr11:94197377..94197392 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1118T>G (p.Phe373Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017388] |
Chr11:94464220 [GRCh38] Chr11:94197386 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*1704G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110533] |
Chr11:94418421 [GRCh38] Chr11:94151587 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1472A>T (p.Asp491Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011766] |
Chr11:94459436 [GRCh38] Chr11:94192602 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.846-2A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467643]|Hereditary cancer-predisposing syndrome [RCV001017845] |
Chr11:94470644 [GRCh38] Chr11:94203810 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.849T>C (p.His283=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002549466]|Hereditary cancer-predisposing syndrome [RCV001017917] |
Chr11:94470639 [GRCh38] Chr11:94203805 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1084C>G (p.Leu362Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110706]|Hereditary cancer-predisposing syndrome [RCV003283980] |
Chr11:94467827 [GRCh38] Chr11:94200993 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.3(MRE11):c.-174T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001110787] |
Chr11:94493859 [GRCh38] Chr11:94227025 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1539T>C (p.Asn513=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002549354]|Hereditary cancer-predisposing syndrome [RCV001011984] |
Chr11:94456300 [GRCh38] Chr11:94189466 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1522A>C (p.Arg508=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011997] |
Chr11:94456317 [GRCh38] Chr11:94189483 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1560T>C (p.Arg520=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001433853]|Hereditary cancer-predisposing syndrome [RCV001012186] |
Chr11:94456279 [GRCh38] Chr11:94189445 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1584A>C (p.Ala528=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012287] |
Chr11:94447418 [GRCh38] Chr11:94180584 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.671G>A (p.Gly224Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003461408]|Ataxia-telangiectasia-like disorder [RCV001038933]|Hereditary cancer-predisposing syndrome [RCV001025574] |
Chr11:94471748 [GRCh38] Chr11:94204914 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.861G>A (p.Leu287=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757213]|Hereditary cancer-predisposing syndrome [RCV001018092] |
Chr11:94470627 [GRCh38] Chr11:94203793 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.871G>C (p.Gly291Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018235] |
Chr11:94470617 [GRCh38] Chr11:94203783 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.88_89delinsTT (p.Ala30Leu) |
indel |
Hereditary cancer-predisposing syndrome [RCV001018368] |
Chr11:94490897..94490898 [GRCh38] Chr11:94224063..94224064 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.881T>C (p.Met294Thr) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001030638]|Hereditary cancer-predisposing syndrome [RCV001018375] |
Chr11:94470607 [GRCh38] Chr11:94203773 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.679A>G (p.Asn227Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001373412]|Hereditary cancer-predisposing syndrome [RCV001025656] |
Chr11:94471740 [GRCh38] Chr11:94204906 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.67C>G (p.Leu23Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025666] |
Chr11:94490919 [GRCh38] Chr11:94224085 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1624G>A (p.Ala542Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012467] |
Chr11:94447378 [GRCh38] Chr11:94180544 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.68T>G (p.Leu23Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025786] |
Chr11:94490918 [GRCh38] Chr11:94224084 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.698T>G (p.Phe233Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025885] |
Chr11:94471721 [GRCh38] Chr11:94204887 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1669G>A (p.Asp557Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236095]|Hereditary cancer-predisposing syndrome [RCV001012651]|not provided [RCV002473163] |
Chr11:94447333 [GRCh38] Chr11:94180499 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098+204C>G |
single nucleotide variant |
not provided [RCV001684859] |
Chr11:94467609 [GRCh38] Chr11:94200775 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470877]|Ataxia-telangiectasia-like disorder [RCV003771833]|Breast carcinoma [RCV001669300] |
Chr11:94464207..94464238 [GRCh38] Chr11:94197373..94197404 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.314+300dup |
duplication |
not provided [RCV001713147] |
Chr11:94485608..94485609 [GRCh38] Chr11:94218774..94218775 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1994+298G>C |
single nucleotide variant |
not provided [RCV001695954] |
Chr11:94435534 [GRCh38] Chr11:94168700 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1225+39A>G |
single nucleotide variant |
not provided [RCV001713219] |
Chr11:94464074 [GRCh38] Chr11:94197240 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1784-66A>G |
single nucleotide variant |
not provided [RCV001667790] |
Chr11:94445959 [GRCh38] Chr11:94179125 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.48A>T (p.Leu16Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023226] |
Chr11:94490938 [GRCh38] Chr11:94224104 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.511A>G (p.Lys171Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001023574] |
Chr11:94478768 [GRCh38] Chr11:94211934 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1783+270C>G |
single nucleotide variant |
not provided [RCV001641282] |
Chr11:94446949 [GRCh38] Chr11:94180115 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1327-273T>C |
single nucleotide variant |
not provided [RCV001610142] |
Chr11:94459854 [GRCh38] Chr11:94193020 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.314+55del |
deletion |
not provided [RCV001584805] |
Chr11:94485869 [GRCh38] Chr11:94219035 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.-105-152dup |
duplication |
not provided [RCV001566055] |
Chr11:94493050..94493051 [GRCh38] Chr11:94226216..94226217 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.403-107G>A |
single nucleotide variant |
not provided [RCV001668827] |
Chr11:94478983 [GRCh38] Chr11:94212149 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.930G>A (p.Glu310=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001493236]|Hereditary cancer-predisposing syndrome [RCV001019160] |
Chr11:94470558 [GRCh38] Chr11:94203724 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+79A>C |
single nucleotide variant |
not provided [RCV001581465] |
Chr11:94476210 [GRCh38] Chr11:94209376 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1098+289G>C |
single nucleotide variant |
not provided [RCV001609332] |
Chr11:94467524 [GRCh38] Chr11:94200690 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.846-60T>A |
single nucleotide variant |
not provided [RCV001609494] |
Chr11:94470702 [GRCh38] Chr11:94203868 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1225+27A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002225861]|not provided [RCV001574815] |
Chr11:94464086 [GRCh38] Chr11:94197252 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.*740G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113844] |
Chr11:94419385 [GRCh38] Chr11:94152551 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*672G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113845] |
Chr11:94419453 [GRCh38] Chr11:94152619 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1885C>T (p.Gln629Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003769460]|Hereditary cancer-predisposing syndrome [RCV001013538] |
Chr11:94437218 [GRCh38] Chr11:94170384 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.189T>C (p.His63=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013557] |
Chr11:94486049 [GRCh38] Chr11:94219215 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+3A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001047883] |
Chr11:94435829 [GRCh38] Chr11:94168995 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1937T>G (p.Val646Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013748] |
Chr11:94435889 [GRCh38] Chr11:94169055 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1946C>T (p.Ser649Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591828]|Hereditary cancer-predisposing syndrome [RCV001013803] |
Chr11:94435880 [GRCh38] Chr11:94169046 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.800G>A (p.Gly267Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027058] |
Chr11:94471619 [GRCh38] Chr11:94204785 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1970C>T (p.Pro657Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013896] |
Chr11:94435856 [GRCh38] Chr11:94169022 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1984A>G (p.Thr662Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013910] |
Chr11:94435842 [GRCh38] Chr11:94169008 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1995-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013961] |
Chr11:94429988 [GRCh38] Chr11:94163154 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1990C>G (p.Gln664Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013972] |
Chr11:94435836 [GRCh38] Chr11:94169002 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.193A>G (p.Asn65Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001249418]|Hereditary cancer-predisposing syndrome [RCV004944955] |
Chr11:94486045 [GRCh38] Chr11:94219211 [GRCh37] Chr11:11q21 |
uncertain significance|not provided |
NM_005591.4(MRE11):c.596C>T (p.Thr199Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001208445] |
Chr11:94476352 [GRCh38] Chr11:94209518 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1034A>G (p.Glu345Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001225868]|Hereditary cancer-predisposing syndrome [RCV001009742] |
Chr11:94467877 [GRCh38] Chr11:94201043 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005012625]|Ataxia-telangiectasia-like disorder [RCV001217467]|Hereditary cancer-predisposing syndrome [RCV002462837] |
Chr11:94447399 [GRCh38] Chr11:94180565 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1225+2T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001206365] |
Chr11:94464111 [GRCh38] Chr11:94197277 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.581T>C (p.Val194Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001206432] |
Chr11:94476367 [GRCh38] Chr11:94209533 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2021T>A (p.Ile674Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014121]|not specified [RCV002271606] |
Chr11:94429960 [GRCh38] Chr11:94163126 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2021T>C (p.Ile674Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014122] |
Chr11:94429960 [GRCh38] Chr11:94163126 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.820C>G (p.Leu274Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001216351]|Hereditary cancer-predisposing syndrome [RCV001027282] |
Chr11:94471599 [GRCh38] Chr11:94204765 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.824C>T (p.Ser275Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001027321] |
Chr11:94471595 [GRCh38] Chr11:94204761 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2052del (p.Asp685fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001014211] |
Chr11:94429929 [GRCh38] Chr11:94163095 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.305G>C (p.Gly102Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001216141] |
Chr11:94485933 [GRCh38] Chr11:94219099 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2091T>C (p.Phe697=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014404] |
Chr11:94420161 [GRCh38] Chr11:94153327 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2099C>T (p.Thr700Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014428] |
Chr11:94420153 [GRCh38] Chr11:94153319 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.21-4A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003769465]|Hereditary cancer-predisposing syndrome [RCV001014581] |
Chr11:94490969 [GRCh38] Chr11:94224135 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.215_219dup (p.Thr74fs) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001014602] |
Chr11:94486018..94486019 [GRCh38] Chr11:94219184..94219185 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1259A>G (p.Lys420Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001230346] |
Chr11:94461003 [GRCh38] Chr11:94194169 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2109A>C (p.Leu703Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001070609] |
Chr11:94420143 [GRCh38] Chr11:94153309 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1124C>A (p.Pro375His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001050546]|Hereditary cancer-predisposing syndrome [RCV002462288] |
Chr11:94464214 [GRCh38] Chr11:94197380 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*2704G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112412] |
Chr11:94417421 [GRCh38] Chr11:94150587 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*1082T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112501] |
Chr11:94419043 [GRCh38] Chr11:94152209 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*973A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001112503] |
Chr11:94419152 [GRCh38] Chr11:94152318 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1099-6T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001051072] |
Chr11:94464245 [GRCh38] Chr11:94197411 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.531G>T (p.Ala177=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003769589]|Hereditary cancer-predisposing syndrome [RCV001023921] |
Chr11:94478748 [GRCh38] Chr11:94211914 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1265C>T (p.Ser422Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010631] |
Chr11:94460997 [GRCh38] Chr11:94194163 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.434G>T (p.Ser145Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001051570] |
Chr11:94478845 [GRCh38] Chr11:94212011 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*760G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113843] |
Chr11:94419365 [GRCh38] Chr11:94152531 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*658T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001113846] |
Chr11:94419467 [GRCh38] Chr11:94152633 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1347A>G (p.Leu449=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010992] |
Chr11:94459561 [GRCh38] Chr11:94192727 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.569A>G (p.Tyr190Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236257]|Hereditary cancer-predisposing syndrome [RCV001024418] |
Chr11:94476379 [GRCh38] Chr11:94209545 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1326G>A (p.Lys442=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV002497335]|Hereditary cancer-predisposing syndrome [RCV001011043] |
Chr11:94460936 [GRCh38] Chr11:94194102 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.572G>A (p.Arg191Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001339149]|Hereditary breast ovarian cancer syndrome [RCV001030639]|Hereditary cancer-predisposing syndrome [RCV001024459] |
Chr11:94476376 [GRCh38] Chr11:94209542 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.572G>T (p.Arg191Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024461] |
Chr11:94476376 [GRCh38] Chr11:94209542 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1366G>A (p.Glu456Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236083]|Hereditary cancer-predisposing syndrome [RCV001011193] |
Chr11:94459542 [GRCh38] Chr11:94192708 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.599T>C (p.Met200Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024774] |
Chr11:94476349 [GRCh38] Chr11:94209515 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.607C>T (p.Pro203Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024868] |
Chr11:94476341 [GRCh38] Chr11:94209507 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.624C>T (p.Asn208=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025041]|not provided [RCV004998570] |
Chr11:94476324 [GRCh38] Chr11:94209490 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1468A>G (p.Ile490Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011722] |
Chr11:94459440 [GRCh38] Chr11:94192606 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1479C>G (p.Leu493=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011794] |
Chr11:94459429 [GRCh38] Chr11:94192595 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1489A>G (p.Ile497Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011838] |
Chr11:94459419 [GRCh38] Chr11:94192585 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1501-3T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011899] |
Chr11:94456341 [GRCh38] Chr11:94189507 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.150T>C (p.Asn50=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011954] |
Chr11:94490836 [GRCh38] Chr11:94224002 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.652C>T (p.Gln218Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025374] |
Chr11:94476296 [GRCh38] Chr11:94209462 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.66T>C (p.His22=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025551] |
Chr11:94490920 [GRCh38] Chr11:94224086 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1612T>A (p.Ser538Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002549369]|Hereditary cancer-predisposing syndrome [RCV001012421] |
Chr11:94447390 [GRCh38] Chr11:94180556 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1629T>C (p.Asp543=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012489] |
Chr11:94447373 [GRCh38] Chr11:94180539 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.6T>C (p.Ser2=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003769617]|Hereditary cancer-predisposing syndrome [RCV001025909] |
Chr11:94492796 [GRCh38] Chr11:94225962 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.598A>G (p.Met200Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001230807]|Hereditary cancer-predisposing syndrome [RCV002462854] |
Chr11:94476350 [GRCh38] Chr11:94209516 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1910C>G (p.Thr637Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001214442] |
Chr11:94437193 [GRCh38] Chr11:94170359 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.734A>G (p.His245Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026309] |
Chr11:94471685 [GRCh38] Chr11:94204851 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1782A>G (p.Arg594=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002549385]|Hereditary cancer-predisposing syndrome [RCV001013136] |
Chr11:94447220 [GRCh38] Chr11:94180386 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.739C>G (p.His247Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757214]|Hereditary cancer-predisposing syndrome [RCV001026380] |
Chr11:94471680 [GRCh38] Chr11:94204846 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.180T>C (p.Asp60=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001403237]|Hereditary cancer-predisposing syndrome [RCV001013205] |
Chr11:94486058 [GRCh38] Chr11:94219224 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.745_747dup (p.Cys249dup) |
duplication |
Hereditary cancer-predisposing syndrome [RCV001026452] |
Chr11:94471671..94471672 [GRCh38] Chr11:94204837..94204838 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1806_1809del (p.Thr603fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001013245] |
Chr11:94445868..94445871 [GRCh38] Chr11:94179034..94179037 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1830T>C (p.Thr610=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013345] |
Chr11:94445847 [GRCh38] Chr11:94179013 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1795C>T (p.Leu599=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013119] |
Chr11:94445882 [GRCh38] Chr11:94179048 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1792G>A (p.Gly598Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013189] |
Chr11:94445885 [GRCh38] Chr11:94179051 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1830T>G (p.Thr610=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002550784]|Hereditary cancer-predisposing syndrome [RCV001013318] |
Chr11:94445847 [GRCh38] Chr11:94179013 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1030C>T (p.Leu344Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001009755] |
Chr11:94467881 [GRCh38] Chr11:94201047 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.944C>G (p.Ala315Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001019363] |
Chr11:94470544 [GRCh38] Chr11:94203710 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1868-5T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001788397]|Ataxia-telangiectasia-like disorder [RCV002236100]|Hereditary cancer-predisposing syndrome [RCV001013456] |
Chr11:94437240 [GRCh38] Chr11:94170406 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1869C>T (p.Ala623=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003769457]|Hereditary cancer-predisposing syndrome [RCV001013462] |
Chr11:94437234 [GRCh38] Chr11:94170400 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.775C>T (p.Gln259Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003467691]|Hereditary cancer-predisposing syndrome [RCV001026791] |
Chr11:94471644 [GRCh38] Chr11:94204810 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1914G>T (p.Lys638Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013681] |
Chr11:94437189 [GRCh38] Chr11:94170355 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1927-5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013734] |
Chr11:94435904 [GRCh38] Chr11:94169070 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1929G>T (p.Val643=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013743] |
Chr11:94435897 [GRCh38] Chr11:94169063 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.808G>T (p.Val270Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005093290]|Hereditary cancer-predisposing syndrome [RCV001027158] |
Chr11:94471611 [GRCh38] Chr11:94204777 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.20+5G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001013989] |
Chr11:94492777 [GRCh38] Chr11:94225943 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2035C>G (p.Gln679Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236101]|Hereditary cancer-predisposing syndrome [RCV001014092] |
Chr11:94429946 [GRCh38] Chr11:94163112 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2023A>G (p.Met675Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005004482]|Ataxia-telangiectasia-like disorder [RCV001051012]|Hereditary cancer-predisposing syndrome [RCV001014099] |
Chr11:94429958 [GRCh38] Chr11:94163124 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.383A>G (p.Asn128Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001021260] |
Chr11:94479693 [GRCh38] Chr11:94212859 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2079T>A (p.Asp693Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001014352] |
Chr11:94420173 [GRCh38] Chr11:94153339 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.424G>A (p.Asp142Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001022137] |
Chr11:94478855 [GRCh38] Chr11:94212021 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.237A>G (p.Leu79=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015320] |
Chr11:94486001 [GRCh38] Chr11:94219167 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.23A>T (p.Asp8Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001015410] |
Chr11:94490963 [GRCh38] Chr11:94224129 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.10:g.(?_94470461)_(94492811_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001033602] |
Chr11:94203627..94225977 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.74T>G (p.Phe25Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001212962]|Hereditary cancer-predisposing syndrome [RCV003163620] |
Chr11:94490912 [GRCh38] Chr11:94224078 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.274G>C (p.Glu92Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001016494] |
Chr11:94485964 [GRCh38] Chr11:94219130 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1306T>A (p.Tyr436Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001010901] |
Chr11:94460956 [GRCh38] Chr11:94194122 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1312C>G (p.Gln438Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001071280]|Hereditary cancer-predisposing syndrome [RCV001010915] |
Chr11:94460950 [GRCh38] Chr11:94194116 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1029G>C (p.Met343Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017068] |
Chr11:94467882 [GRCh38] Chr11:94201048 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1047G>A (p.Arg349=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017072] |
Chr11:94467864 [GRCh38] Chr11:94201030 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1073C>T (p.Pro358Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005093156]|Hereditary cancer-predisposing syndrome [RCV001017213] |
Chr11:94467838 [GRCh38] Chr11:94201004 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1083T>C (p.Pro361=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017233] |
Chr11:94467828 [GRCh38] Chr11:94200994 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003221309]|Ataxia-telangiectasia-like disorder [RCV001037663]|Hereditary cancer-predisposing syndrome [RCV001024452]|Renal transitional cell carcinoma [RCV001554263] |
Chr11:94476377 [GRCh38] Chr11:94209543 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1365T>A (p.Gly455=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001011061] |
Chr11:94459543 [GRCh38] Chr11:94192709 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.576G>A (p.Met192Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001024510] |
Chr11:94476372 [GRCh38] Chr11:94209538 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.579T>G (p.Phe193Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001304017]|Hereditary cancer-predisposing syndrome [RCV001024543]|not provided [RCV004998566] |
Chr11:94476369 [GRCh38] Chr11:94209535 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1115G>A (p.Gly372Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017371] |
Chr11:94464223 [GRCh38] Chr11:94197389 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1130G>A (p.Ser377Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001064915]|Hereditary cancer-predisposing syndrome [RCV001017401] |
Chr11:94464208 [GRCh38] Chr11:94197374 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1130G>T (p.Ser377Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017403] |
Chr11:94464208 [GRCh38] Chr11:94197374 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.838G>A (p.Val280Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002551801]|Hereditary cancer-predisposing syndrome [RCV001017677] |
Chr11:94471581 [GRCh38] Chr11:94204747 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.845+4_845+7del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV001216426] |
Chr11:94471567..94471570 [GRCh38] Chr11:94204733..94204736 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1398G>A (p.Glu466=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001456877]|Hereditary cancer-predisposing syndrome [RCV001011362] |
Chr11:94459510 [GRCh38] Chr11:94192676 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.609A>C (p.Pro203=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236267]|Hereditary cancer-predisposing syndrome [RCV001024891] |
Chr11:94476339 [GRCh38] Chr11:94209505 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1434G>A (p.Leu478=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001398814]|Hereditary cancer-predisposing syndrome [RCV001011561]|MRE11-related disorder [RCV003898033] |
Chr11:94459474 [GRCh38] Chr11:94192640 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.843G>T (p.Lys281Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017777] |
Chr11:94471576 [GRCh38] Chr11:94204742 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.846A>G (p.Lys282=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001017848] |
Chr11:94470642 [GRCh38] Chr11:94203808 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.858G>C (p.Leu286Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018041] |
Chr11:94470630 [GRCh38] Chr11:94203796 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1485del (p.Asp495fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001011818] |
Chr11:94459423 [GRCh38] Chr11:94192589 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.641T>G (p.Phe214Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001025250] |
Chr11:94476307 [GRCh38] Chr11:94209473 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.152A>G (p.Glu51Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236091]|Hereditary cancer-predisposing syndrome [RCV001012028] |
Chr11:94490834 [GRCh38] Chr11:94224000 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1531_1532del (p.Asn511fs) |
deletion |
Hereditary breast ovarian cancer syndrome [RCV004794475]|Hereditary cancer-predisposing syndrome [RCV001012035] |
Chr11:94456307..94456308 [GRCh38] Chr11:94189473..94189474 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1558C>T (p.Arg520Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236093]|Hereditary cancer-predisposing syndrome [RCV001012149] |
Chr11:94456281 [GRCh38] Chr11:94189447 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.158A>G (p.Asp53Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012204] |
Chr11:94486080 [GRCh38] Chr11:94219246 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.156G>A (p.Val52=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591825]|Hereditary cancer-predisposing syndrome [RCV001012227] |
Chr11:94486082 [GRCh38] Chr11:94219248 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.895del (p.Ile299fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV001018549] |
Chr11:94470593 [GRCh38] Chr11:94203759 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.311G>T (p.Ser104Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018709] |
Chr11:94485927 [GRCh38] Chr11:94219093 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.314+2T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018788]|not provided [RCV003482322] |
Chr11:94485922 [GRCh38] Chr11:94219088 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.314+4_314+7del |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV003467651]|Ataxia-telangiectasia-like disorder [RCV002236212]|Hereditary cancer-predisposing syndrome [RCV001018789]|MRE11-related disorder [RCV003396605]|not provided [RCV004702580] |
Chr11:94485917..94485920 [GRCh38] Chr11:94219083..94219086 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_005591.4(MRE11):c.910G>A (p.Val304Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001018874] |
Chr11:94470578 [GRCh38] Chr11:94203744 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1627G>A (p.Asp543Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001012480] |
Chr11:94447375 [GRCh38] Chr11:94180541 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.10:g.(?_94420125)_(94420191_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001033229] |
Chr11:94153291..94153357 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.706G>T (p.Asp236Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026000] |
Chr11:94471713 [GRCh38] Chr11:94204879 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.707A>C (p.Asp236Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001348864]|Hereditary cancer-predisposing syndrome [RCV001026012] |
Chr11:94471712 [GRCh38] Chr11:94204878 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.712A>G (p.Ile238Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001235522]|Hereditary cancer-predisposing syndrome [RCV001026069] |
Chr11:94471707 [GRCh38] Chr11:94204873 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.174T>G (p.Gly58=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002236098]|Hereditary cancer-predisposing syndrome [RCV001012953] |
Chr11:94486064 [GRCh38] Chr11:94219230 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.732C>T (p.Gly244=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV001026280] |
Chr11:94471687 [GRCh38] Chr11:94204853 [GRCh37] Chr11:11q21 |
likely benign |
GRCh37/hg19 11q21(chr11:94153291-94170401) |
copy number loss |
Ataxia-telangiectasia-like disorder 1 [RCV001254035] |
Chr11:94153291..94170401 [GRCh37] Chr11:11q21 |
pathogenic |
GRCh37/hg19 11q21(chr11:93676223-94342737)x3 |
copy number gain |
not provided [RCV001260146] |
Chr11:93676223..94342737 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1629T>A (p.Asp543Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001324655] |
Chr11:94447373 [GRCh38] Chr11:94180539 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.660-6A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003120577]|Ataxia-telangiectasia-like disorder [RCV001348862] |
Chr11:94471765 [GRCh38] Chr11:94204931 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NM_005591.4(MRE11):c.1325A>G (p.Lys442Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001297260] |
Chr11:94460937 [GRCh38] Chr11:94194103 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.100A>T (p.Asn34Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001341992] |
Chr11:94490886 [GRCh38] Chr11:94224052 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1138C>A (p.Arg380Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001299840]|Hereditary cancer-predisposing syndrome [RCV002462911] |
Chr11:94464200 [GRCh38] Chr11:94197366 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.283A>G (p.Ser95Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001321997] |
Chr11:94485955 [GRCh38] Chr11:94219121 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.660-7G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001421084]|not provided [RCV004998888]|not specified [RCV001844291] |
Chr11:94471766 [GRCh38] Chr11:94204932 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1545A>T (p.Glu515Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001362563]|Hereditary cancer-predisposing syndrome [RCV004945068]|not specified [RCV004770104] |
Chr11:94456294 [GRCh38] Chr11:94189460 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.154G>C (p.Val52Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001372890] |
Chr11:94486084 [GRCh38] Chr11:94219250 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1343T>C (p.Leu448Pro) |
single nucleotide variant |
not provided [RCV001311268] |
Chr11:94459565 [GRCh38] Chr11:94192731 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.20+168dup |
duplication |
not provided [RCV001538654] |
Chr11:94492613..94492614 [GRCh38] Chr11:94225779..94225780 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.716A>T (p.Asp239Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001323774]|Hereditary cancer-predisposing syndrome [RCV004035111] |
Chr11:94471703 [GRCh38] Chr11:94204869 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1219A>C (p.Lys407Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001346374]|Hereditary cancer-predisposing syndrome [RCV002462949] |
Chr11:94464119 [GRCh38] Chr11:94197285 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.112G>C (p.Val38Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001364197] |
Chr11:94490874 [GRCh38] Chr11:94224040 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2026T>G (p.Ser676Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001315585] |
Chr11:94429955 [GRCh38] Chr11:94163121 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1589G>A (p.Arg530Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001339798]|Hereditary cancer-predisposing syndrome [RCV004035911] |
Chr11:94447413 [GRCh38] Chr11:94180579 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.343A>G (p.Asn115Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001322932]|Hereditary cancer-predisposing syndrome [RCV003166885] |
Chr11:94479733 [GRCh38] Chr11:94212899 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2024T>G (p.Met675Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001344835] |
Chr11:94429957 [GRCh38] Chr11:94163123 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1152A>G (p.Lys384=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001321852]|Hereditary cancer-predisposing syndrome [RCV002462931] |
Chr11:94464186 [GRCh38] Chr11:94197352 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.884A>G (p.Asn295Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001322078]|Hereditary cancer-predisposing syndrome [RCV004639561] |
Chr11:94470604 [GRCh38] Chr11:94203770 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.802A>G (p.Ser268Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001361280]|Hereditary cancer-predisposing syndrome [RCV004036797] |
Chr11:94471617 [GRCh38] Chr11:94204783 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1372G>A (p.Val458Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001326762]|Hereditary cancer-predisposing syndrome [RCV002462936] |
Chr11:94459536 [GRCh38] Chr11:94192702 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.118C>T (p.Leu40Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001327728]|Hereditary cancer-predisposing syndrome [RCV003294313] |
Chr11:94490868 [GRCh38] Chr11:94224034 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NC_000011.9:g.(?_94153291)_(94153357_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001323303] |
Chr11:94153291..94153357 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.389A>G (p.Asp130Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001324357]|Hereditary cancer-predisposing syndrome [RCV004035129] |
Chr11:94479687 [GRCh38] Chr11:94212853 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.778C>G (p.Leu260Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001341305] |
Chr11:94471641 [GRCh38] Chr11:94204807 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1789A>G (p.Thr597Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001347606] |
Chr11:94445888 [GRCh38] Chr11:94179054 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.9:g.(?_94189432)_(94189514_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001308949] |
Chr11:94189432..94189514 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.187C>T (p.His63Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001359999] |
Chr11:94486051 [GRCh38] Chr11:94219217 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1547A>T (p.Asp516Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001364394]|Hereditary cancer-predisposing syndrome [RCV002462960]|not provided [RCV004998853] |
Chr11:94456292 [GRCh38] Chr11:94189458 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2066G>A (p.Ser689Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001350264]|Hereditary cancer-predisposing syndrome [RCV004945051] |
Chr11:94429915 [GRCh38] Chr11:94163081 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1903G>A (p.Val635Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001366761]|Hereditary cancer-predisposing syndrome [RCV002462962] |
Chr11:94437200 [GRCh38] Chr11:94170366 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.711C>T (p.Phe237=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001394809]|Hereditary cancer-predisposing syndrome [RCV002462970] |
Chr11:94471708 [GRCh38] Chr11:94204874 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.217C>T (p.His73Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001300600]|Hereditary cancer-predisposing syndrome [RCV004944974] |
Chr11:94486021 [GRCh38] Chr11:94219187 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1501-10T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001360833] |
Chr11:94456348 [GRCh38] Chr11:94189514 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.9:g.(?_94153285)_(111965700_?)del |
deletion |
Ataxia-telangiectasia syndrome [RCV001389105] |
Chr11:94153285..111965700 [GRCh37] Chr11:11q21-23.1 |
pathogenic |
NM_005591.4(MRE11):c.1850A>C (p.Asn617Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001315893] |
Chr11:94445827 [GRCh38] Chr11:94178993 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1188C>T (p.Ile396=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001470016] |
Chr11:94464150 [GRCh38] Chr11:94197316 [GRCh37] Chr11:11q21 |
likely benign |
NC_000011.9:g.(?_94180375)_(94180614_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001389778] |
Chr11:94180375..94180614 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1995-25TGTTTT[2] |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV001480054] |
Chr11:94429994..94429999 [GRCh38] Chr11:94163160..94163165 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.174T>C (p.Gly58=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001439581]|Hereditary cancer-predisposing syndrome [RCV002462982] |
Chr11:94486064 [GRCh38] Chr11:94219230 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.18A>G (p.Ala6=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001474391] |
Chr11:94492784 [GRCh38] Chr11:94225950 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.429T>C (p.Ile143=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001442418] |
Chr11:94478850 [GRCh38] Chr11:94212016 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1383T>C (p.Phe461=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001486995]|Hereditary cancer-predisposing syndrome [RCV002462994] |
Chr11:94459525 [GRCh38] Chr11:94192691 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.567C>G (p.Leu189=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001468482]|Hereditary cancer-predisposing syndrome [RCV002462990] |
Chr11:94476381 [GRCh38] Chr11:94209547 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1098+10A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001406928]|not specified [RCV002282539] |
Chr11:94467803 [GRCh38] Chr11:94200969 [GRCh37] Chr11:11q21 |
likely benign |
NC_000011.9:g.(?_94168988)_(94170411_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001389779] |
Chr11:94168988..94170411 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1308C>T (p.Tyr436=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001446576]|Hereditary cancer-predisposing syndrome [RCV003160801] |
Chr11:94460954 [GRCh38] Chr11:94194120 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1327-7C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001444494] |
Chr11:94459588 [GRCh38] Chr11:94192754 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1563+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004570930]|Ataxia-telangiectasia-like disorder [RCV001378466] |
Chr11:94456275 [GRCh38] Chr11:94189441 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.1500+2del |
deletion |
Ataxia-telangiectasia-like disorder [RCV001379565] |
Chr11:94459406 [GRCh38] Chr11:94192572 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.117A>C (p.Thr39=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001411268]|Hereditary cancer-predisposing syndrome [RCV002462974]|not specified [RCV004998878] |
Chr11:94490869 [GRCh38] Chr11:94224035 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1674T>C (p.Ser558=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001432475]|Hereditary cancer-predisposing syndrome [RCV004038311] |
Chr11:94447328 [GRCh38] Chr11:94180494 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1326+99T>A |
single nucleotide variant |
not provided [RCV001681364] |
Chr11:94460837 [GRCh38] Chr11:94194003 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1563+10C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001457550] |
Chr11:94456266 [GRCh38] Chr11:94189432 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1868-273G>A |
single nucleotide variant |
not provided [RCV001617330] |
Chr11:94437508 [GRCh38] Chr11:94170674 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.545-241T>C |
single nucleotide variant |
not provided [RCV001715735] |
Chr11:94476644 [GRCh38] Chr11:94209810 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1564-228del |
deletion |
not provided [RCV001714460] |
Chr11:94447666 [GRCh38] Chr11:94180832 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1783+119A>C |
single nucleotide variant |
not provided [RCV001618014] |
Chr11:94447100 [GRCh38] Chr11:94180266 [GRCh37] Chr11:11q21 |
benign |
NC_000011.10:g.94493959C>A |
single nucleotide variant |
not provided [RCV001716768] |
Chr11:94493959 [GRCh38] Chr11:94227125 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1908T>A (p.Thr636=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001484873] |
Chr11:94437195 [GRCh38] Chr11:94170361 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.845+8T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001482680] |
Chr11:94471566 [GRCh38] Chr11:94204732 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1392G>A (p.Lys464=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001468421]|Hereditary cancer-predisposing syndrome [RCV003160900] |
Chr11:94459516 [GRCh38] Chr11:94192682 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.810G>C (p.Val270=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001483023] |
Chr11:94471609 [GRCh38] Chr11:94204775 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1417T>C (p.Leu473=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001451718] |
Chr11:94459491 [GRCh38] Chr11:94192657 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1280dup (p.Leu427fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV004570964]|Ataxia-telangiectasia-like disorder [RCV001386975] |
Chr11:94460981..94460982 [GRCh38] Chr11:94194147..94194148 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.498G>T (p.Pro166=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV001503961]|Hereditary cancer-predisposing syndrome [RCV002463000] |
Chr11:94478781 [GRCh38] Chr11:94211947 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1963A>G (p.Ile655Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239097]|Hereditary cancer-predisposing syndrome [RCV002463145] |
Chr11:94435863 [GRCh38] Chr11:94169029 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1853T>C (p.Met618Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239102]|Hereditary cancer-predisposing syndrome [RCV002463146] |
Chr11:94445824 [GRCh38] Chr11:94178990 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1784-16T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239103] |
Chr11:94445909 [GRCh38] Chr11:94179075 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1563+19A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239112] |
Chr11:94456257 [GRCh38] Chr11:94189423 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-8_1099-7del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV002239125] |
Chr11:94464246..94464247 [GRCh38] Chr11:94197412..94197413 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004572082]|Ataxia-telangiectasia-like disorder [RCV002239129]|Hereditary cancer-predisposing syndrome [RCV002463149] |
Chr11:94467815 [GRCh38] Chr11:94200981 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.660-5T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239140] |
Chr11:94471764 [GRCh38] Chr11:94204930 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.659+14C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239141] |
Chr11:94476275 [GRCh38] Chr11:94209441 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.300C>T (p.Asn100=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239156]|Hereditary cancer-predisposing syndrome [RCV002463158] |
Chr11:94485938 [GRCh38] Chr11:94219104 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.245_250del (p.Tyr82_Met84delinsLeu) |
deletion |
Ataxia-telangiectasia-like disorder [RCV002239158] |
Chr11:94485988..94485993 [GRCh38] Chr11:94219154..94219159 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.154-19_154-18del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV002239161] |
Chr11:94486102..94486103 [GRCh38] Chr11:94219268..94219269 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.932A>G (p.Asp311Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239664]|Hereditary cancer-predisposing syndrome [RCV004641943] |
Chr11:94470556 [GRCh38] Chr11:94203722 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.199C>T (p.Pro67Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239673] |
Chr11:94486039 [GRCh38] Chr11:94219205 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.21-11T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239675] |
Chr11:94490976 [GRCh38] Chr11:94224142 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2076T>C (p.Asp692=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239090]|Hereditary cancer-predisposing syndrome [RCV003164333]|not provided [RCV004584965] |
Chr11:94420176 [GRCh38] Chr11:94153342 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2071-3C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239091] |
Chr11:94420184 [GRCh38] Chr11:94153350 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1994+15T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239095] |
Chr11:94435817 [GRCh38] Chr11:94168983 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1555G>A (p.Val519Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239113] |
Chr11:94456284 [GRCh38] Chr11:94189450 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1360A>G (p.Met454Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008485]|Ataxia-telangiectasia-like disorder [RCV002239120]|Hereditary cancer-predisposing syndrome [RCV003289480] |
Chr11:94459548 [GRCh38] Chr11:94192714 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1335G>T (p.Gln445His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239121]|Hereditary cancer-predisposing syndrome [RCV004945979] |
Chr11:94459573 [GRCh38] Chr11:94192739 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1099-12C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239126] |
Chr11:94464251 [GRCh38] Chr11:94197417 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.846-6C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239132] |
Chr11:94470648 [GRCh38] Chr11:94203814 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.544+4A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239146] |
Chr11:94478731 [GRCh38] Chr11:94211897 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.519C>T (p.Ser173=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239150]|Hereditary cancer-predisposing syndrome [RCV002463154] |
Chr11:94478760 [GRCh38] Chr11:94211926 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.54A>G (p.Ala18=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239165] |
Chr11:94490932 [GRCh38] Chr11:94224098 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1735G>A (p.Gly579Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239654]|Hereditary cancer-predisposing syndrome [RCV002463147] |
Chr11:94447267 [GRCh38] Chr11:94180433 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1710A>T (p.Arg570Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239655] |
Chr11:94447292 [GRCh38] Chr11:94180458 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2070+16T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239092] |
Chr11:94429895 [GRCh38] Chr11:94163061 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239096] |
Chr11:94435847 [GRCh38] Chr11:94169013 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1483G>C (p.Asp495His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239117] |
Chr11:94459425 [GRCh38] Chr11:94192591 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.881T>G (p.Met294Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239131] |
Chr11:94470607 [GRCh38] Chr11:94203773 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.845+8T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239134] |
Chr11:94471566 [GRCh38] Chr11:94204732 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.678T>C (p.Thr226=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239137] |
Chr11:94471741 [GRCh38] Chr11:94204907 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.658A>C (p.Arg220=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239143] |
Chr11:94476290 [GRCh38] Chr11:94209456 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.261G>T (p.Arg87=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239157]|Hereditary cancer-predisposing syndrome [RCV003308072] |
Chr11:94485977 [GRCh38] Chr11:94219143 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+1G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239163] |
Chr11:94490832 [GRCh38] Chr11:94223998 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1501-17A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239658] |
Chr11:94456355 [GRCh38] Chr11:94189521 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1535C>A (p.Thr512Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293370] |
Chr11:94456304 [GRCh38] Chr11:94189470 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1467T>C (p.His489=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293371] |
Chr11:94459441 [GRCh38] Chr11:94192607 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.390C>G (p.Asp130Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003293379] |
Chr11:94479686 [GRCh38] Chr11:94212852 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.846-7A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003095854]|Hereditary cancer-predisposing syndrome [RCV002258717] |
Chr11:94470649 [GRCh38] Chr11:94203815 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1960G>C (p.Asp654His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258715] |
Chr11:94435866 [GRCh38] Chr11:94169032 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2079T>C (p.Asp693=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757231]|Hereditary cancer-predisposing syndrome [RCV002258716] |
Chr11:94420173 [GRCh38] Chr11:94153339 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1552dup (p.Glu518fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV001784676] |
Chr11:94456286..94456287 [GRCh38] Chr11:94189452..94189453 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1018del (p.Ile340fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV001784674] |
Chr11:94467893 [GRCh38] Chr11:94201059 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1889A>C (p.Gln630Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463031]|not provided [RCV001763966] |
Chr11:94437214 [GRCh38] Chr11:94170380 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1500+2T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001782455] |
Chr11:94459406 [GRCh38] Chr11:94192572 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.829G>C (p.Gly277Arg) |
single nucleotide variant |
not provided [RCV001753980] |
Chr11:94471590 [GRCh38] Chr11:94204756 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.592del (p.Lys197_Val198insTer) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003182391] |
Chr11:94476356 [GRCh38] Chr11:94209522 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.403-2A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV001784675]|Hereditary cancer-predisposing syndrome [RCV003163922] |
Chr11:94478878 [GRCh38] Chr11:94212044 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.845+6T>G |
single nucleotide variant |
not provided [RCV001755085] |
Chr11:94471568 [GRCh38] Chr11:94204734 [GRCh37] Chr11:11q21 |
likely pathogenic|uncertain significance |
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) |
copy number loss |
not specified [RCV002052941] |
Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21 |
pathogenic |
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 |
copy number loss |
not provided [RCV001832892] |
Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3 |
uncertain significance |
GRCh37/hg19 11q21(chr11:93975926-94529037) |
copy number gain |
not specified [RCV002052949] |
Chr11:93975926..94529037 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q14.3-21(chr11:90906452-94437087) |
copy number gain |
not specified [RCV002052947] |
Chr11:90906452..94437087 [GRCh37] Chr11:11q14.3-21 |
uncertain significance |
GRCh37/hg19 11q21(chr11:94130773-94283185) |
copy number loss |
not specified [RCV002052950] |
Chr11:94130773..94283185 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) |
copy number loss |
not specified [RCV002052940] |
Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1 |
pathogenic |
NM_005591.4(MRE11):c.1614T>C (p.Ser538=) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226226]|Hereditary cancer-predisposing syndrome [RCV002463123] |
Chr11:94447388 [GRCh38] Chr11:94180554 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.154-33A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226231] |
Chr11:94486117 [GRCh38] Chr11:94219283 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.402+46A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226229] |
Chr11:94479628 [GRCh38] Chr11:94212794 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1995-6C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239093] |
Chr11:94429992 [GRCh38] Chr11:94163158 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1501-9A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239116] |
Chr11:94456347 [GRCh38] Chr11:94189513 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.846-20T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239133] |
Chr11:94470662 [GRCh38] Chr11:94203828 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.620A>G (p.Glu207Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239144]|Hereditary cancer-predisposing syndrome [RCV003164335] |
Chr11:94476328 [GRCh38] Chr11:94209494 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.529G>C (p.Ala177Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239148] |
Chr11:94478750 [GRCh38] Chr11:94211916 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.173G>C (p.Gly58Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239159] |
Chr11:94486065 [GRCh38] Chr11:94219231 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.153+14G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239162] |
Chr11:94490819 [GRCh38] Chr11:94223985 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1501-11T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239657] |
Chr11:94456349 [GRCh38] Chr11:94189515 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.21-10C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005008486]|Ataxia-telangiectasia-like disorder [RCV002239674] |
Chr11:94490975 [GRCh38] Chr11:94224141 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.2071-23A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226221] |
Chr11:94420204 [GRCh38] Chr11:94153370 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+26G>T |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226223] |
Chr11:94435806 [GRCh38] Chr11:94168972 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1098+40A>G |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226228] |
Chr11:94467773 [GRCh38] Chr11:94200939 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.21-14_21-12del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV002236391]|Hereditary breast ovarian cancer syndrome [RCV002226232] |
Chr11:94490977..94490979 [GRCh38] Chr11:94224143..94224145 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+43T>C |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV002226222] |
Chr11:94435789 [GRCh38] Chr11:94168955 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+17T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239094] |
Chr11:94435815 [GRCh38] Chr11:94168981 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1927-18G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239100] |
Chr11:94435917 [GRCh38] Chr11:94169083 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1927-22_1927-19del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV002239101] |
Chr11:94435918..94435921 [GRCh38] Chr11:94169084..94169087 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1784-19C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239105] |
Chr11:94445912 [GRCh38] Chr11:94179078 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1383T>G (p.Phe461Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004572081]|Ataxia-telangiectasia-like disorder [RCV002239118] |
Chr11:94459525 [GRCh38] Chr11:94192691 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1382T>C (p.Phe461Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239119] |
Chr11:94459526 [GRCh38] Chr11:94192692 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098+17T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239127] |
Chr11:94467796 [GRCh38] Chr11:94200962 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.668A>T (p.His223Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239139]|Hereditary cancer-predisposing syndrome [RCV003365712] |
Chr11:94471751 [GRCh38] Chr11:94204917 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.659+11T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239142] |
Chr11:94476278 [GRCh38] Chr11:94209444 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.464G>T (p.Arg155Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239151]|Hereditary cancer-predisposing syndrome [RCV002463155] |
Chr11:94478815 [GRCh38] Chr11:94211981 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.422dup (p.Leu141fs) |
duplication |
Ataxia-telangiectasia-like disorder [RCV002239153] |
Chr11:94478856..94478857 [GRCh38] Chr11:94212022..94212023 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1226-15C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239662] |
Chr11:94461051 [GRCh38] Chr11:94194217 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1017+18A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239663] |
Chr11:94470453 [GRCh38] Chr11:94203619 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.751A>G (p.Ile251Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239665] |
Chr11:94471668 [GRCh38] Chr11:94204834 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.735T>G (p.His245Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239666]|Hereditary cancer-predisposing syndrome [RCV003164334] |
Chr11:94471684 [GRCh38] Chr11:94204850 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.564G>A (p.Arg188=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239667]|Hereditary cancer-predisposing syndrome [RCV002463152]|not provided [RCV003395425] |
Chr11:94476384 [GRCh38] Chr11:94209550 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.561A>G (p.Glu187=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239668] |
Chr11:94476387 [GRCh38] Chr11:94209553 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.21-17C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239676] |
Chr11:94490982 [GRCh38] Chr11:94224148 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1783+19C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239106] |
Chr11:94447200 [GRCh38] Chr11:94180366 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1783+17G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239107] |
Chr11:94447202 [GRCh38] Chr11:94180368 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1569G>A (p.Met523Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239109] |
Chr11:94447433 [GRCh38] Chr11:94180599 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1564-15TCT[4] |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV002239110]|Hereditary cancer-predisposing syndrome [RCV002258397] |
Chr11:94447447..94447448 [GRCh38] Chr11:94180613..94180614 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1564-12_1564-10del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV002239111] |
Chr11:94447448..94447450 [GRCh38] Chr11:94180614..94180616 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1545A>C (p.Glu515Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239114] |
Chr11:94456294 [GRCh38] Chr11:94189460 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098+15T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239128] |
Chr11:94467798 [GRCh38] Chr11:94200964 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.838G>C (p.Val280Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239135] |
Chr11:94471581 [GRCh38] Chr11:94204747 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.674G>A (p.Ser225Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239138]|Hereditary cancer-predisposing syndrome [RCV004945980] |
Chr11:94471745 [GRCh38] Chr11:94204911 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.544G>A (p.Gly182Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003471295]|Ataxia-telangiectasia-like disorder [RCV002239147]|Hereditary cancer-predisposing syndrome [RCV002463153] |
Chr11:94478735 [GRCh38] Chr11:94211901 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.327G>A (p.Val109=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239155] |
Chr11:94479749 [GRCh38] Chr11:94212915 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.173G>A (p.Gly58Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239160] |
Chr11:94486065 [GRCh38] Chr11:94219231 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.21-5T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239167]|Hereditary cancer-predisposing syndrome [RCV002463159] |
Chr11:94490970 [GRCh38] Chr11:94224136 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1896C>T (p.Ser632=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239651] |
Chr11:94437207 [GRCh38] Chr11:94170373 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003464408]|Ataxia-telangiectasia-like disorder [RCV002239652] |
Chr11:94437215 [GRCh38] Chr11:94170381 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1877C>A (p.Ser626Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239653] |
Chr11:94437226 [GRCh38] Chr11:94170392 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.544+9G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239669] |
Chr11:94478726 [GRCh38] Chr11:94211892 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.345C>T (p.Asn115=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239672] |
Chr11:94479731 [GRCh38] Chr11:94212897 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1110T>G (p.Ser370Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003120232]|Hereditary cancer-predisposing syndrome [RCV004245971] |
Chr11:94464228 [GRCh38] Chr11:94197394 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.845+9T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003120301] |
Chr11:94471565 [GRCh38] Chr11:94204731 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+12T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003121761] |
Chr11:94490821 [GRCh38] Chr11:94223987 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1927-8del |
deletion |
Ataxia-telangiectasia-like disorder [RCV002239099] |
Chr11:94435907 [GRCh38] Chr11:94169073 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1512C>T (p.Phe504=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239115] |
Chr11:94456327 [GRCh38] Chr11:94189493 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1326+10T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239123] |
Chr11:94460926 [GRCh38] Chr11:94194092 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.907A>G (p.Thr303Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239130]|Hereditary cancer-predisposing syndrome [RCV004047356] |
Chr11:94470581 [GRCh38] Chr11:94203747 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.586A>C (p.Lys196Gln) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239145]|Hereditary cancer-predisposing syndrome [RCV002463151] |
Chr11:94476362 [GRCh38] Chr11:94209528 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.527T>G (p.Ile176Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239149] |
Chr11:94478752 [GRCh38] Chr11:94211918 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.74T>A (p.Phe25Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239164] |
Chr11:94490912 [GRCh38] Chr11:94224078 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2030A>G (p.Gln677Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239650] |
Chr11:94429951 [GRCh38] Chr11:94163117 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1270G>A (p.Gly424Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239661]|not provided [RCV003482400] |
Chr11:94460992 [GRCh38] Chr11:94194158 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.544+7C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239670] |
Chr11:94478728 [GRCh38] Chr11:94211894 [GRCh37] Chr11:11q21 |
likely benign |
NC_000011.9:g.(?_94153291)_(94225967_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV002239014] |
Chr11:94153291..94225967 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1953G>A (p.Val651=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239098] |
Chr11:94435873 [GRCh38] Chr11:94169039 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1784-17G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239104] |
Chr11:94445910 [GRCh38] Chr11:94179076 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1783+8C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239108] |
Chr11:94447211 [GRCh38] Chr11:94180377 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1326+12C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239122] |
Chr11:94460924 [GRCh38] Chr11:94194090 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225_1225+1delinsCA |
indel |
Ataxia-telangiectasia-like disorder [RCV002239124]|Hereditary cancer-predisposing syndrome [RCV002463148] |
Chr11:94464112..94464113 [GRCh38] Chr11:94197278..94197279 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.788T>A (p.Ile263Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003471294]|Ataxia-telangiectasia-like disorder [RCV002239136]|Hereditary cancer-predisposing syndrome [RCV002463150] |
Chr11:94471631 [GRCh38] Chr11:94204797 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.460G>A (p.Gly154Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239152] |
Chr11:94478819 [GRCh38] Chr11:94211985 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.344A>G (p.Asn115Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239154]|Hereditary cancer-predisposing syndrome [RCV002463157] |
Chr11:94479732 [GRCh38] Chr11:94212898 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.21-4A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239166] |
Chr11:94490969 [GRCh38] Chr11:94224135 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1693G>A (p.Ala565Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239656] |
Chr11:94447309 [GRCh38] Chr11:94180475 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1500+17A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239659] |
Chr11:94459391 [GRCh38] Chr11:94192557 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1297G>A (p.Val433Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239660]|Hereditary cancer-predisposing syndrome [RCV004047355] |
Chr11:94460965 [GRCh38] Chr11:94194131 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.396C>T (p.Pro132=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002239671]|Hereditary cancer-predisposing syndrome [RCV002463156] |
Chr11:94479680 [GRCh38] Chr11:94212846 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1311T>A (p.Phe437Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463188]|not provided [RCV002275876] |
Chr11:94460951 [GRCh38] Chr11:94194117 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_005591.4(MRE11):c.1783+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV002488670]|Hereditary cancer-predisposing syndrome [RCV002463236] |
Chr11:94447218 [GRCh38] Chr11:94180384 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.875G>A (p.Arg292Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003300641] |
Chr11:94470613 [GRCh38] Chr11:94203779 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.887T>C (p.Met296Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302109] |
Chr11:94470601 [GRCh38] Chr11:94203767 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1995G>A (p.Arg665=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302110] |
Chr11:94429986 [GRCh38] Chr11:94163152 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.379G>A (p.Gly127Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302111] |
Chr11:94479697 [GRCh38] Chr11:94212863 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.582C>G (p.Val194=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592018]|Hereditary cancer-predisposing syndrome [RCV003302114] |
Chr11:94476366 [GRCh38] Chr11:94209532 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2071-14G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002613725] |
Chr11:94420195 [GRCh38] Chr11:94153361 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2022C>G (p.Ile674Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460379] |
Chr11:94429959 [GRCh38] Chr11:94163125 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1207G>A (p.Glu403Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103057]|Hereditary cancer-predisposing syndrome [RCV002460384] |
Chr11:94464131 [GRCh38] Chr11:94197297 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1507C>A (p.Arg503Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460423] |
Chr11:94456332 [GRCh38] Chr11:94189498 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1593T>C (p.Ser531=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460424] |
Chr11:94447409 [GRCh38] Chr11:94180575 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.536A>G (p.Tyr179Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460431] |
Chr11:94478743 [GRCh38] Chr11:94211909 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1474G>A (p.Ala492Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460438] |
Chr11:94459434 [GRCh38] Chr11:94192600 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.3:c.14_15insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV002460538] |
|
likely pathogenic |
NM_005591.4(MRE11):c.1835T>A (p.Val612Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460542] |
Chr11:94445842 [GRCh38] Chr11:94179008 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1197C>G (p.Phe399Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460607] |
Chr11:94464141 [GRCh38] Chr11:94197307 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.265G>T (p.Val89Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103074]|Hereditary cancer-predisposing syndrome [RCV002460617] |
Chr11:94485973 [GRCh38] Chr11:94219139 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1382T>A (p.Phe461Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460669] |
Chr11:94459526 [GRCh38] Chr11:94192692 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.253G>A (p.Gly85Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004796734]|Ataxia-telangiectasia-like disorder [RCV003103076]|Hereditary cancer-predisposing syndrome [RCV002460675] |
Chr11:94485985 [GRCh38] Chr11:94219151 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.57A>G (p.Thr19=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460682] |
Chr11:94490929 [GRCh38] Chr11:94224095 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1172A>T (p.Asn391Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460691] |
Chr11:94464166 [GRCh38] Chr11:94197332 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.376C>G (p.His126Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460713] |
Chr11:94479700 [GRCh38] Chr11:94212866 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1940A>G (p.Asp647Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460736] |
Chr11:94435886 [GRCh38] Chr11:94169052 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1258A>G (p.Lys420Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460739] |
Chr11:94461004 [GRCh38] Chr11:94194170 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1267G>A (p.Glu423Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460743] |
Chr11:94460995 [GRCh38] Chr11:94194161 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1277C>T (p.Thr426Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460745] |
Chr11:94460985 [GRCh38] Chr11:94194151 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1159G>A (p.Asp387Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460747] |
Chr11:94464179 [GRCh38] Chr11:94197345 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.741T>G (p.His247Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460748] |
Chr11:94471678 [GRCh38] Chr11:94204844 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1603G>A (p.Glu535Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460759] |
Chr11:94447399 [GRCh38] Chr11:94180565 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1803T>G (p.Thr601=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460767] |
Chr11:94445874 [GRCh38] Chr11:94179040 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.669T>C (p.His223=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460769] |
Chr11:94471750 [GRCh38] Chr11:94204916 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.650A>C (p.His217Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460770] |
Chr11:94476298 [GRCh38] Chr11:94209464 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1490T>C (p.Ile497Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460771] |
Chr11:94459418 [GRCh38] Chr11:94192584 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1234A>T (p.Ile412Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460772] |
Chr11:94461028 [GRCh38] Chr11:94194194 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1719A>G (p.Gly573=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460773] |
Chr11:94447283 [GRCh38] Chr11:94180449 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.670G>A (p.Gly224Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460776] |
Chr11:94471749 [GRCh38] Chr11:94204915 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2036A>T (p.Gln679Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460777] |
Chr11:94429945 [GRCh38] Chr11:94163111 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.721G>A (p.Val241Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460778] |
Chr11:94471698 [GRCh38] Chr11:94204864 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1640G>A (p.Ser547Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460780] |
Chr11:94447362 [GRCh38] Chr11:94180528 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1879A>G (p.Thr627Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460781] |
Chr11:94437224 [GRCh38] Chr11:94170390 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1806T>C (p.Ser602=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460782] |
Chr11:94445871 [GRCh38] Chr11:94179037 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.776A>G (p.Gln259Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460787] |
Chr11:94471643 [GRCh38] Chr11:94204809 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1677T>C (p.Asp559=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460791] |
Chr11:94447325 [GRCh38] Chr11:94180491 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1535C>T (p.Thr512Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460795] |
Chr11:94456304 [GRCh38] Chr11:94189470 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1236C>A (p.Ile412=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460796] |
Chr11:94461026 [GRCh38] Chr11:94194192 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1416A>G (p.Glu472=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460798] |
Chr11:94459492 [GRCh38] Chr11:94192658 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1269A>C (p.Glu423Asp) |
single nucleotide variant |
not provided [RCV002474326] |
Chr11:94460993 [GRCh38] Chr11:94194159 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1082C>T (p.Pro361Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460800] |
Chr11:94467829 [GRCh38] Chr11:94200995 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1360A>T (p.Met454Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460802] |
Chr11:94459548 [GRCh38] Chr11:94192714 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.89C>G (p.Ala30Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460804] |
Chr11:94490897 [GRCh38] Chr11:94224063 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1500+4del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002460805] |
Chr11:94459404 [GRCh38] Chr11:94192570 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1431G>A (p.Gln477=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460813] |
Chr11:94459477 [GRCh38] Chr11:94192643 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1831G>C (p.Ala611Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460814] |
Chr11:94445846 [GRCh38] Chr11:94179012 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.621G>A (p.Glu207=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460816] |
Chr11:94476327 [GRCh38] Chr11:94209493 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.523A>G (p.Lys175Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460832] |
Chr11:94478756 [GRCh38] Chr11:94211922 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.832G>A (p.Glu278Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460833] |
Chr11:94471587 [GRCh38] Chr11:94204753 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.87T>C (p.Asp29=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460837] |
Chr11:94490899 [GRCh38] Chr11:94224065 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1926+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460840] |
Chr11:94437173 [GRCh38] Chr11:94170339 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.325G>A (p.Val109Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460842] |
Chr11:94479751 [GRCh38] Chr11:94212917 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.366G>C (p.Val122=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460843] |
Chr11:94479710 [GRCh38] Chr11:94212876 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.965A>G (p.Asn322Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460844] |
Chr11:94470523 [GRCh38] Chr11:94203689 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1359G>A (p.Gly453=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103089]|Hereditary cancer-predisposing syndrome [RCV002460847] |
Chr11:94459549 [GRCh38] Chr11:94192715 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2097C>T (p.Asn699=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460851] |
Chr11:94420155 [GRCh38] Chr11:94153321 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1205G>A (p.Arg402Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460409] |
Chr11:94464133 [GRCh38] Chr11:94197299 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1371A>T (p.Ala457=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460433] |
Chr11:94459537 [GRCh38] Chr11:94192703 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1615G>A (p.Ala539Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460461] |
Chr11:94447387 [GRCh38] Chr11:94180553 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.836C>T (p.Ala279Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460462] |
Chr11:94471583 [GRCh38] Chr11:94204749 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.70G>A (p.Gly24Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460502] |
Chr11:94490916 [GRCh38] Chr11:94224082 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1532del (p.Asn511fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002460543] |
Chr11:94456307 [GRCh38] Chr11:94189473 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.937G>A (p.Val313Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460557] |
Chr11:94470551 [GRCh38] Chr11:94203717 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1708A>G (p.Arg570Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460581] |
Chr11:94447294 [GRCh38] Chr11:94180460 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.774A>G (p.Gln258=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460585] |
Chr11:94471645 [GRCh38] Chr11:94204811 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.321A>G (p.Pro107=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103072]|Hereditary cancer-predisposing syndrome [RCV002460588] |
Chr11:94479755 [GRCh38] Chr11:94212921 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1132G>A (p.Val378Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460589] |
Chr11:94464206 [GRCh38] Chr11:94197372 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1755A>G (p.Ala585=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460620] |
Chr11:94447247 [GRCh38] Chr11:94180413 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.493A>C (p.Ser165Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460639] |
Chr11:94478786 [GRCh38] Chr11:94211952 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.885T>C (p.Asn295=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460640] |
Chr11:94470603 [GRCh38] Chr11:94203769 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1998G>T (p.Trp666Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460662] |
Chr11:94429983 [GRCh38] Chr11:94163149 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.602T>G (p.Leu201Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460698] |
Chr11:94476346 [GRCh38] Chr11:94209512 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.522A>G (p.Thr174=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460360]|not provided [RCV004999770] |
Chr11:94478757 [GRCh38] Chr11:94211923 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.228C>G (p.Leu76=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103056]|Hereditary cancer-predisposing syndrome [RCV002460381] |
Chr11:94486010 [GRCh38] Chr11:94219176 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.962T>G (p.Phe321Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460398] |
Chr11:94470526 [GRCh38] Chr11:94203692 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1457A>T (p.Lys486Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460416] |
Chr11:94459451 [GRCh38] Chr11:94192617 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.966C>T (p.Asn322=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460427] |
Chr11:94470522 [GRCh38] Chr11:94203688 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.373A>C (p.Ile125Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460358] |
Chr11:94479703 [GRCh38] Chr11:94212869 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.988C>G (p.Gln330Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460395] |
Chr11:94470500 [GRCh38] Chr11:94203666 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1585C>G (p.Leu529Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460460] |
Chr11:94447417 [GRCh38] Chr11:94180583 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.593T>G (p.Val198Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460505] |
Chr11:94476355 [GRCh38] Chr11:94209521 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.481A>G (p.Lys161Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460545] |
Chr11:94478798 [GRCh38] Chr11:94211964 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1433T>C (p.Leu478Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460560] |
Chr11:94459475 [GRCh38] Chr11:94192641 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1003T>C (p.Phe335Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460594] |
Chr11:94470485 [GRCh38] Chr11:94203651 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1326+5T>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460596] |
Chr11:94460931 [GRCh38] Chr11:94194097 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.90A>G (p.Ala30=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757236]|Hereditary cancer-predisposing syndrome [RCV002460619] |
Chr11:94490896 [GRCh38] Chr11:94224062 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1793G>T (p.Gly598Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460630] |
Chr11:94445884 [GRCh38] Chr11:94179050 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.356_357insCAA (p.Ser119_Ile120insLys) |
insertion |
Hereditary cancer-predisposing syndrome [RCV002460638] |
Chr11:94479719..94479720 [GRCh38] Chr11:94212885..94212886 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1028T>C (p.Met343Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460647] |
Chr11:94467883 [GRCh38] Chr11:94201049 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2077G>A (p.Asp693Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460653] |
Chr11:94420175 [GRCh38] Chr11:94153341 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1988A>G (p.Asp663Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460656] |
Chr11:94435838 [GRCh38] Chr11:94169004 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1841C>G (p.Ala614Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460657] |
Chr11:94445836 [GRCh38] Chr11:94179002 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1678G>C (p.Asp560His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460659] |
Chr11:94447324 [GRCh38] Chr11:94180490 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2092A>T (p.Met698Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460660] |
Chr11:94420160 [GRCh38] Chr11:94153326 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.461G>A (p.Gly154Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460663] |
Chr11:94478818 [GRCh38] Chr11:94211984 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1535C>G (p.Thr512Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460665] |
Chr11:94456304 [GRCh38] Chr11:94189470 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.43A>G (p.Ile15Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460670] |
Chr11:94490943 [GRCh38] Chr11:94224109 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1803T>A (p.Thr601=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460673] |
Chr11:94445874 [GRCh38] Chr11:94179040 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1014G>T (p.Glu338Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460676] |
Chr11:94470474 [GRCh38] Chr11:94203640 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.334C>G (p.Gln112Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460678] |
Chr11:94479742 [GRCh38] Chr11:94212908 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.170T>C (p.Leu57Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460681] |
Chr11:94486068 [GRCh38] Chr11:94219234 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.836C>G (p.Ala279Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460683] |
Chr11:94471583 [GRCh38] Chr11:94204749 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.847C>T (p.His283Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460688] |
Chr11:94470641 [GRCh38] Chr11:94203807 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1590A>T (p.Arg530Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460700] |
Chr11:94447412 [GRCh38] Chr11:94180578 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.815C>T (p.Thr272Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460702] |
Chr11:94471604 [GRCh38] Chr11:94204770 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1181A>G (p.Asp394Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460706] |
Chr11:94464157 [GRCh38] Chr11:94197323 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1257A>G (p.Thr419=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757237]|Hereditary cancer-predisposing syndrome [RCV002460708] |
Chr11:94461005 [GRCh38] Chr11:94194171 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2010A>G (p.Ser670=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460709] |
Chr11:94429971 [GRCh38] Chr11:94163137 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1283G>A (p.Arg428Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460710] |
Chr11:94460979 [GRCh38] Chr11:94194145 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.163A>C (p.Ile55Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460711] |
Chr11:94486075 [GRCh38] Chr11:94219241 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.406G>A (p.Asp136Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460714] |
Chr11:94478873 [GRCh38] Chr11:94212039 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1473T>C (p.Asp491=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460716] |
Chr11:94459435 [GRCh38] Chr11:94192601 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1173T>C (p.Asn391=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460719] |
Chr11:94464165 [GRCh38] Chr11:94197331 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1598C>T (p.Ser533Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460720] |
Chr11:94447404 [GRCh38] Chr11:94180570 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.172G>A (p.Gly58Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757238]|Hereditary cancer-predisposing syndrome [RCV002460725] |
Chr11:94486066 [GRCh38] Chr11:94219232 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.945T>C (p.Ala315=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460727] |
Chr11:94470543 [GRCh38] Chr11:94203709 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.157G>C (p.Asp53His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460728] |
Chr11:94486081 [GRCh38] Chr11:94219247 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1712G>T (p.Gly571Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460729] |
Chr11:94447290 [GRCh38] Chr11:94180456 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2016C>G (p.Ser672Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460356] |
Chr11:94429965 [GRCh38] Chr11:94163131 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.437G>C (p.Cys146Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460361] |
Chr11:94478842 [GRCh38] Chr11:94212008 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.461G>T (p.Gly154Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460363] |
Chr11:94478818 [GRCh38] Chr11:94211984 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.740A>C (p.His247Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460368] |
Chr11:94471679 [GRCh38] Chr11:94204845 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.739C>T (p.His247Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460372] |
Chr11:94471680 [GRCh38] Chr11:94204846 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1068C>T (p.His356=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460374] |
Chr11:94467843 [GRCh38] Chr11:94201009 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2081A>G (p.Asp694Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460376] |
Chr11:94420171 [GRCh38] Chr11:94153337 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.628del (p.Trp210fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002460380] |
Chr11:94476320 [GRCh38] Chr11:94209486 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1534A>G (p.Thr512Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460387] |
Chr11:94456305 [GRCh38] Chr11:94189471 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.933T>C (p.Asp311=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460399] |
Chr11:94470555 [GRCh38] Chr11:94203721 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1617C>T (p.Ala539=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460400] |
Chr11:94447385 [GRCh38] Chr11:94180551 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1690G>A (p.Ala564Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460403] |
Chr11:94447312 [GRCh38] Chr11:94180478 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1355G>C (p.Arg452Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460406] |
Chr11:94459553 [GRCh38] Chr11:94192719 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.97G>A (p.Gly33Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460410] |
Chr11:94490889 [GRCh38] Chr11:94224055 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.187C>A (p.His63Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460412] |
Chr11:94486051 [GRCh38] Chr11:94219217 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.181C>A (p.Leu61Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460413] |
Chr11:94486057 [GRCh38] Chr11:94219223 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.198G>T (p.Lys66Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460414] |
Chr11:94486040 [GRCh38] Chr11:94219206 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.61A>G (p.Ile21Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460417] |
Chr11:94490925 [GRCh38] Chr11:94224091 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.993C>T (p.Ala331=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460421] |
Chr11:94470495 [GRCh38] Chr11:94203661 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.976C>G (p.Pro326Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004571165]|Hereditary cancer-predisposing syndrome [RCV002460422] |
Chr11:94470512 [GRCh38] Chr11:94203678 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1883G>C (p.Arg628Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460430] |
Chr11:94437220 [GRCh38] Chr11:94170386 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.993C>A (p.Ala331=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460436] |
Chr11:94470495 [GRCh38] Chr11:94203661 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.454C>G (p.His152Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460439] |
Chr11:94478825 [GRCh38] Chr11:94211991 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2035C>T (p.Gln679Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003465769]|Hereditary cancer-predisposing syndrome [RCV002460441] |
Chr11:94429946 [GRCh38] Chr11:94163112 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1683C>T (p.Ser561=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460442] |
Chr11:94447319 [GRCh38] Chr11:94180485 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1252A>C (p.Ile418Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460448] |
Chr11:94461010 [GRCh38] Chr11:94194176 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1613C>T (p.Ser538Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460456] |
Chr11:94447389 [GRCh38] Chr11:94180555 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.434G>C (p.Ser145Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460466] |
Chr11:94478845 [GRCh38] Chr11:94212011 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.455A>T (p.His152Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460469] |
Chr11:94478824 [GRCh38] Chr11:94211990 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1149G>T (p.Gln383His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460470] |
Chr11:94464189 [GRCh38] Chr11:94197355 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1963A>T (p.Ile655Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460481] |
Chr11:94435863 [GRCh38] Chr11:94169029 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1158G>C (p.Val386=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460484] |
Chr11:94464180 [GRCh38] Chr11:94197346 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.915G>C (p.Arg305=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591965]|Hereditary cancer-predisposing syndrome [RCV002460489] |
Chr11:94470573 [GRCh38] Chr11:94203739 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1123C>T (p.Pro375Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460499] |
Chr11:94464215 [GRCh38] Chr11:94197381 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.428T>G (p.Ile143Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591966]|Hereditary cancer-predisposing syndrome [RCV002460506] |
Chr11:94478851 [GRCh38] Chr11:94212017 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1596G>C (p.Gln532His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003464562]|Hereditary cancer-predisposing syndrome [RCV002460511] |
Chr11:94447406 [GRCh38] Chr11:94180572 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.792A>G (p.Ser264=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003775464]|Hereditary cancer-predisposing syndrome [RCV002460514] |
Chr11:94471627 [GRCh38] Chr11:94204793 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1437A>G (p.Glu479=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460517] |
Chr11:94459471 [GRCh38] Chr11:94192637 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.289C>G (p.Gln97Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460520] |
Chr11:94485949 [GRCh38] Chr11:94219115 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.422T>C (p.Leu141Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460521] |
Chr11:94478857 [GRCh38] Chr11:94212023 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1754C>T (p.Ala585Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460524] |
Chr11:94447248 [GRCh38] Chr11:94180414 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1645G>C (p.Asp549His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460525] |
Chr11:94447357 [GRCh38] Chr11:94180523 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.978T>A (p.Pro326=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460529] |
Chr11:94470510 [GRCh38] Chr11:94203676 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2069A>G (p.Glu690Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460530] |
Chr11:94429912 [GRCh38] Chr11:94163078 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1317C>A (p.Thr439=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460534] |
Chr11:94460945 [GRCh38] Chr11:94194111 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1260G>A (p.Lys420=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460535] |
Chr11:94461002 [GRCh38] Chr11:94194168 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.991G>C (p.Ala331Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460539] |
Chr11:94470497 [GRCh38] Chr11:94203663 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1110T>C (p.Ser370=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460540] |
Chr11:94464228 [GRCh38] Chr11:94197394 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.386A>G (p.His129Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460541] |
Chr11:94479690 [GRCh38] Chr11:94212856 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2028C>A (p.Ser676=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460552] |
Chr11:94429953 [GRCh38] Chr11:94163119 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.525G>A (p.Lys175=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460561] |
Chr11:94478754 [GRCh38] Chr11:94211920 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1778G>A (p.Gly593Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460563] |
Chr11:94447224 [GRCh38] Chr11:94180390 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.495T>C (p.Ser165=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757235]|Hereditary cancer-predisposing syndrome [RCV002460564] |
Chr11:94478784 [GRCh38] Chr11:94211950 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1950T>C (p.Asp650=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460571] |
Chr11:94435876 [GRCh38] Chr11:94169042 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1500G>T (p.Glu500Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460572] |
Chr11:94459408 [GRCh38] Chr11:94192574 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.556G>T (p.Asp186Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460573] |
Chr11:94476392 [GRCh38] Chr11:94209558 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1501-4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460577] |
Chr11:94456342 [GRCh38] Chr11:94189508 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.571C>G (p.Arg191Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460578] |
Chr11:94476377 [GRCh38] Chr11:94209543 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.200C>T (p.Pro67Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460583] |
Chr11:94486038 [GRCh38] Chr11:94219204 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1104C>T (p.Asp368=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460584] |
Chr11:94464234 [GRCh38] Chr11:94197400 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1977T>C (p.Thr659=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460590] |
Chr11:94435849 [GRCh38] Chr11:94169015 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.570T>C (p.Tyr190=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460592] |
Chr11:94476378 [GRCh38] Chr11:94209544 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.853G>A (p.Gly285Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460597] |
Chr11:94470635 [GRCh38] Chr11:94203801 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.823T>A (p.Ser275Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460602] |
Chr11:94471596 [GRCh38] Chr11:94204762 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.232T>A (p.Leu78Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460605] |
Chr11:94486006 [GRCh38] Chr11:94219172 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2041T>G (p.Ser681Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460606] |
Chr11:94429940 [GRCh38] Chr11:94163106 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.340G>A (p.Gly114Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460608] |
Chr11:94479736 [GRCh38] Chr11:94212902 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.838G>T (p.Val280Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460609] |
Chr11:94471581 [GRCh38] Chr11:94204747 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.988C>T (p.Gln330Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460610] |
Chr11:94470500 [GRCh38] Chr11:94203666 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1636A>G (p.Met546Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460618] |
Chr11:94447366 [GRCh38] Chr11:94180532 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.160T>C (p.Phe54Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460621] |
Chr11:94486078 [GRCh38] Chr11:94219244 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1523G>A (p.Arg508Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460623] |
Chr11:94456316 [GRCh38] Chr11:94189482 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1292A>T (p.Asp431Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460627] |
Chr11:94460970 [GRCh38] Chr11:94194136 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2058T>A (p.Phe686Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460631] |
Chr11:94429923 [GRCh38] Chr11:94163089 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.888G>A (p.Met296Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460634] |
Chr11:94470600 [GRCh38] Chr11:94203766 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.754G>C (p.Ala252Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460642] |
Chr11:94471665 [GRCh38] Chr11:94204831 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2071-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460644] |
Chr11:94420182 [GRCh38] Chr11:94153348 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1164G>A (p.Arg388=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460645] |
Chr11:94464174 [GRCh38] Chr11:94197340 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.336A>C (p.Gln112His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460651] |
Chr11:94479740 [GRCh38] Chr11:94212906 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.309T>G (p.Phe103Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003131609]|Ataxia-telangiectasia-like disorder [RCV003592001]|Hereditary cancer-predisposing syndrome [RCV004636713] |
Chr11:94485929 [GRCh38] Chr11:94219095 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.704A>T (p.Asp235Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463235] |
Chr11:94471715 [GRCh38] Chr11:94204881 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1323G>A (p.Glu441=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463243] |
Chr11:94460939 [GRCh38] Chr11:94194105 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1641T>C (p.Ser547=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463252] |
Chr11:94447361 [GRCh38] Chr11:94180527 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.983T>C (p.Val328Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463258] |
Chr11:94470505 [GRCh38] Chr11:94203671 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1130G>C (p.Ser377Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463305] |
Chr11:94464208 [GRCh38] Chr11:94197374 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2093T>C (p.Met698Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463316] |
Chr11:94420159 [GRCh38] Chr11:94153325 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.403-4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463321] |
Chr11:94478880 [GRCh38] Chr11:94212046 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1835T>G (p.Val612Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463327] |
Chr11:94445842 [GRCh38] Chr11:94179008 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.291G>T (p.Gln97His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463338] |
Chr11:94485947 [GRCh38] Chr11:94219113 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.898C>A (p.Pro300Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103052]|Hereditary cancer-predisposing syndrome [RCV002463339] |
Chr11:94470590 [GRCh38] Chr11:94203756 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.102T>C (p.Asn34=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463340] |
Chr11:94490884 [GRCh38] Chr11:94224050 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.721G>T (p.Val241Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461409] |
Chr11:94471698 [GRCh38] Chr11:94204864 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.559G>A (p.Glu187Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461411] |
Chr11:94476389 [GRCh38] Chr11:94209555 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1016A>G (p.Lys339Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461424] |
Chr11:94470472 [GRCh38] Chr11:94203638 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1126T>C (p.Phe376Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461428] |
Chr11:94464212 [GRCh38] Chr11:94197378 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.664A>C (p.Lys222Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461432] |
Chr11:94471755 [GRCh38] Chr11:94204921 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.916C>T (p.Gln306Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461433] |
Chr11:94470572 [GRCh38] Chr11:94203738 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.972T>C (p.Asp324=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461439] |
Chr11:94470516 [GRCh38] Chr11:94203682 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1365T>C (p.Gly455=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461441] |
Chr11:94459543 [GRCh38] Chr11:94192709 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.241A>C (p.Lys81Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461450] |
Chr11:94485997 [GRCh38] Chr11:94219163 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1892C>T (p.Pro631Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461476] |
Chr11:94437211 [GRCh38] Chr11:94170377 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1695A>G (p.Ala565=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461489] |
Chr11:94447307 [GRCh38] Chr11:94180473 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.857T>G (p.Leu286Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461493] |
Chr11:94470631 [GRCh38] Chr11:94203797 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.919T>C (p.Phe307Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461499] |
Chr11:94470569 [GRCh38] Chr11:94203735 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1378G>T (p.Glu460Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757241]|Hereditary cancer-predisposing syndrome [RCV002461500] |
Chr11:94459530 [GRCh38] Chr11:94192696 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1263T>G (p.Pro421=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461504] |
Chr11:94460999 [GRCh38] Chr11:94194165 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.137T>C (p.Leu46Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461505] |
Chr11:94490849 [GRCh38] Chr11:94224015 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1547A>G (p.Asp516Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461507] |
Chr11:94456292 [GRCh38] Chr11:94189458 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.478G>A (p.Glu160Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461572] |
Chr11:94478801 [GRCh38] Chr11:94211967 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-4C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461573] |
Chr11:94461040 [GRCh38] Chr11:94194206 [GRCh37] Chr11:11q21 |
uncertain significance |
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 |
copy number loss |
not provided [RCV002475722] |
Chr11:81478509..104667040 [GRCh37] Chr11:11q14.1-22.3 |
pathogenic |
NM_005591.4(MRE11):c.469A>T (p.Met157Leu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002842374] |
Chr11:94478810 [GRCh38] Chr11:94211976 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.157G>A (p.Asp53Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463272] |
Chr11:94486081 [GRCh38] Chr11:94219247 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1501G>A (p.Val501Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463281] |
Chr11:94456338 [GRCh38] Chr11:94189504 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1146C>T (p.Ser382=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463290] |
Chr11:94464192 [GRCh38] Chr11:94197358 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1364G>T (p.Gly455Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463300] |
Chr11:94459544 [GRCh38] Chr11:94192710 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1532dup (p.Asn511fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV003465768]|Ataxia-telangiectasia-like disorder [RCV003103046]|Hereditary cancer-predisposing syndrome [RCV002463306] |
Chr11:94456306..94456307 [GRCh38] Chr11:94189472..94189473 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1849A>G (p.Asn617Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463307] |
Chr11:94445828 [GRCh38] Chr11:94178994 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1861A>T (p.Ile621Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463335] |
Chr11:94445816 [GRCh38] Chr11:94178982 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1824A>G (p.Ser608=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463343] |
Chr11:94445853 [GRCh38] Chr11:94179019 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1242T>C (p.Phe414=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591964]|Hereditary cancer-predisposing syndrome [RCV002463346] |
Chr11:94461020 [GRCh38] Chr11:94194186 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.36A>G (p.Thr12=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004631993]|not provided [RCV002481161] |
Chr11:94490950 [GRCh38] Chr11:94224116 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.1995-7G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002756045] |
Chr11:94429993 [GRCh38] Chr11:94163159 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1698C>T (p.Thr566=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461379] |
Chr11:94447304 [GRCh38] Chr11:94180470 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1701C>G (p.Asn567Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460869] |
Chr11:94447301 [GRCh38] Chr11:94180467 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.280C>T (p.Leu94Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461389] |
Chr11:94485958 [GRCh38] Chr11:94219124 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1957G>T (p.Glu653Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461404] |
Chr11:94435869 [GRCh38] Chr11:94169035 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.397A>G (p.Thr133Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461406] |
Chr11:94479679 [GRCh38] Chr11:94212845 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1997G>A (p.Trp666Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461408] |
Chr11:94429984 [GRCh38] Chr11:94163150 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1648T>G (p.Leu550Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461445] |
Chr11:94447354 [GRCh38] Chr11:94180520 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1305G>A (p.Gln435=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461446] |
Chr11:94460957 [GRCh38] Chr11:94194123 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1419A>G (p.Leu473=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461447] |
Chr11:94459489 [GRCh38] Chr11:94192655 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1909A>G (p.Thr637Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461454] |
Chr11:94437194 [GRCh38] Chr11:94170360 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.117A>G (p.Thr39=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461462] |
Chr11:94490869 [GRCh38] Chr11:94224035 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1441dup (p.Thr481fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV003147770]|Hereditary cancer-predisposing syndrome [RCV002461478] |
Chr11:94459466..94459467 [GRCh38] Chr11:94192632..94192633 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.185T>C (p.Phe62Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461512] |
Chr11:94486053 [GRCh38] Chr11:94219219 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.35C>T (p.Thr12Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591967]|Hereditary cancer-predisposing syndrome [RCV002461520] |
Chr11:94490951 [GRCh38] Chr11:94224117 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1552G>T (p.Glu518Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461528] |
Chr11:94456287 [GRCh38] Chr11:94189453 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.891T>C (p.His297=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461536] |
Chr11:94470597 [GRCh38] Chr11:94203763 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1205G>T (p.Arg402Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461566] |
Chr11:94464133 [GRCh38] Chr11:94197299 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.913C>A (p.Arg305=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461568] |
Chr11:94470575 [GRCh38] Chr11:94203741 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.545G>A (p.Gly182Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461579] |
Chr11:94476403 [GRCh38] Chr11:94209569 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1170T>A (p.Ala390=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461593] |
Chr11:94464168 [GRCh38] Chr11:94197334 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.846-11C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002974818] |
Chr11:94470653 [GRCh38] Chr11:94203819 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1563+13C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002775257] |
Chr11:94456263 [GRCh38] Chr11:94189429 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1867+18G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002838717] |
Chr11:94445792 [GRCh38] Chr11:94178958 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.8C>T (p.Thr3Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460854] |
Chr11:94492794 [GRCh38] Chr11:94225960 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1971T>C (p.Pro657=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460861] |
Chr11:94435855 [GRCh38] Chr11:94169021 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.504G>A (p.Leu168=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460863] |
Chr11:94478775 [GRCh38] Chr11:94211941 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2122A>C (p.Arg708=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460870] |
Chr11:94420130 [GRCh38] Chr11:94153296 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1239C>T (p.Asn413=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461398] |
Chr11:94461023 [GRCh38] Chr11:94194189 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2039T>C (p.Val680Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461429] |
Chr11:94429942 [GRCh38] Chr11:94163108 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1506T>C (p.Arg502=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461438] |
Chr11:94456333 [GRCh38] Chr11:94189499 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.722T>C (p.Val241Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002815669] |
Chr11:94471697 [GRCh38] Chr11:94204863 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1994+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460864] |
Chr11:94435831 [GRCh38] Chr11:94168997 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1714C>G (p.Arg572Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461377] |
Chr11:94447288 [GRCh38] Chr11:94180454 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.709T>C (p.Phe237Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461410] |
Chr11:94471710 [GRCh38] Chr11:94204876 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1533T>C (p.Asn511=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461412] |
Chr11:94456306 [GRCh38] Chr11:94189472 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.403-2A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461423] |
Chr11:94478878 [GRCh38] Chr11:94212044 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.2100T>G (p.Thr700=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757239]|Hereditary cancer-predisposing syndrome [RCV002461440] |
Chr11:94420152 [GRCh38] Chr11:94153318 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.116C>T (p.Thr39Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461442] |
Chr11:94490870 [GRCh38] Chr11:94224036 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1890G>A (p.Gln630=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757240]|Hereditary cancer-predisposing syndrome [RCV002461443] |
Chr11:94437213 [GRCh38] Chr11:94170379 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1564-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461569] |
Chr11:94447439 [GRCh38] Chr11:94180605 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.2088T>C (p.Pro696=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461584] |
Chr11:94420164 [GRCh38] Chr11:94153330 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1469T>C (p.Ile490Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461589] |
Chr11:94459439 [GRCh38] Chr11:94192605 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.939del (p.Val313_Leu314insTer) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV005002840]|Ataxia-telangiectasia-like disorder [RCV003757243]|Hereditary cancer-predisposing syndrome [RCV002461590]|not provided [RCV004999771] |
Chr11:94470549 [GRCh38] Chr11:94203715 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1836G>C (p.Val612=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461594] |
Chr11:94445841 [GRCh38] Chr11:94179007 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.154-16T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002615120] |
Chr11:94486100 [GRCh38] Chr11:94219266 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.537T>C (p.Tyr179=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003015217] |
Chr11:94478742 [GRCh38] Chr11:94211908 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1755A>C (p.Ala585=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003016377]|Hereditary cancer-predisposing syndrome [RCV003170872] |
Chr11:94447247 [GRCh38] Chr11:94180413 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.846-1G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103091]|Hereditary cancer-predisposing syndrome [RCV002460866] |
Chr11:94470643 [GRCh38] Chr11:94203809 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.948T>C (p.Asn316=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460873] |
Chr11:94470540 [GRCh38] Chr11:94203706 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1823C>T (p.Ser608Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461378] |
Chr11:94445854 [GRCh38] Chr11:94179020 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.157del (p.Asp53fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002461405] |
Chr11:94486081 [GRCh38] Chr11:94219247 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.845+4_845+5del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002461472] |
Chr11:94471569..94471570 [GRCh38] Chr11:94204735..94204736 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.371G>A (p.Ser124Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461519] |
Chr11:94479705 [GRCh38] Chr11:94212871 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1449A>G (p.Arg483=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461541] |
Chr11:94459459 [GRCh38] Chr11:94192625 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1196del (p.Phe399fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002461558] |
Chr11:94464142 [GRCh38] Chr11:94197308 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.378T>C (p.His126=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461560] |
Chr11:94479698 [GRCh38] Chr11:94212864 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1666A>G (p.Asn556Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461565] |
Chr11:94447336 [GRCh38] Chr11:94180502 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1327-1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461580] |
Chr11:94459582 [GRCh38] Chr11:94192748 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.563G>A (p.Arg188Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461581] |
Chr11:94476385 [GRCh38] Chr11:94209551 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1341A>G (p.Ser447=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463249] |
Chr11:94459567 [GRCh38] Chr11:94192733 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.480G>T (p.Glu160Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463311] |
Chr11:94478799 [GRCh38] Chr11:94211965 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1324A>G (p.Lys442Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103051]|Hereditary cancer-predisposing syndrome [RCV002463334] |
Chr11:94460938 [GRCh38] Chr11:94194104 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.52G>A (p.Ala18Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463342] |
Chr11:94490934 [GRCh38] Chr11:94224100 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1124del (p.Pro375fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002463345] |
Chr11:94464214 [GRCh38] Chr11:94197380 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1477del (p.Leu493fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV002838767] |
Chr11:94459431 [GRCh38] Chr11:94192597 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1895C>T (p.Ser632Phe) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003073888]|Hereditary cancer-predisposing syndrome [RCV004070239] |
Chr11:94437208 [GRCh38] Chr11:94170374 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.963T>A (p.Phe321Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463222] |
Chr11:94470525 [GRCh38] Chr11:94203691 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1342C>T (p.Leu448=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463223] |
Chr11:94459566 [GRCh38] Chr11:94192732 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.56del (p.Thr19fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002463225] |
Chr11:94490930 [GRCh38] Chr11:94224096 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.720T>C (p.Leu240=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463226] |
Chr11:94471699 [GRCh38] Chr11:94204865 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.317T>G (p.Phe106Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463227] |
Chr11:94479759 [GRCh38] Chr11:94212925 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1129A>T (p.Ser377Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463228] |
Chr11:94464209 [GRCh38] Chr11:94197375 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1794T>C (p.Gly598=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463230] |
Chr11:94445883 [GRCh38] Chr11:94179049 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.674G>C (p.Ser225Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463256] |
Chr11:94471745 [GRCh38] Chr11:94204911 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1334A>T (p.Gln445Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463269] |
Chr11:94459574 [GRCh38] Chr11:94192740 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.465T>C (p.Arg155=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463301] |
Chr11:94478814 [GRCh38] Chr11:94211980 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1987G>T (p.Asp663Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463302] |
Chr11:94435839 [GRCh38] Chr11:94169005 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.899C>G (p.Pro300Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463330] |
Chr11:94470589 [GRCh38] Chr11:94203755 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.399A>G (p.Thr133=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103050]|Hereditary cancer-predisposing syndrome [RCV002463333] |
Chr11:94479677 [GRCh38] Chr11:94212843 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.657C>G (p.Asn219Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002463336] |
Chr11:94476291 [GRCh38] Chr11:94209457 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.842del (p.Lys281fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002463337] |
Chr11:94471577 [GRCh38] Chr11:94204743 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.913C>G (p.Arg305Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460852] |
Chr11:94470575 [GRCh38] Chr11:94203741 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1983G>A (p.Lys661=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003103090]|Hereditary cancer-predisposing syndrome [RCV002460860] |
Chr11:94435843 [GRCh38] Chr11:94169009 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.381C>G (p.Gly127=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460871] |
Chr11:94479695 [GRCh38] Chr11:94212861 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.520A>G (p.Thr174Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460875] |
Chr11:94478759 [GRCh38] Chr11:94211925 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.582C>T (p.Val194=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461391] |
Chr11:94476366 [GRCh38] Chr11:94209532 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1124C>G (p.Pro375Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461416] |
Chr11:94464214 [GRCh38] Chr11:94197380 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.270G>T (p.Gln90His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461421] |
Chr11:94485968 [GRCh38] Chr11:94219134 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1548T>C (p.Asp516=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461425] |
Chr11:94456291 [GRCh38] Chr11:94189457 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.987C>T (p.Thr329=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461426] |
Chr11:94470501 [GRCh38] Chr11:94203667 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1927G>A (p.Val643Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461437] |
Chr11:94435899 [GRCh38] Chr11:94169065 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-4C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461464] |
Chr11:94461040 [GRCh38] Chr11:94194206 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1813A>G (p.Ser605Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461468] |
Chr11:94445864 [GRCh38] Chr11:94179030 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.438T>C (p.Cys146=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461474] |
Chr11:94478841 [GRCh38] Chr11:94212007 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1583C>T (p.Ala528Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461518] |
Chr11:94447419 [GRCh38] Chr11:94180585 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1299A>G (p.Val433=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461534] |
Chr11:94460963 [GRCh38] Chr11:94194129 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2050del (p.Val684fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV002461535] |
Chr11:94429931 [GRCh38] Chr11:94163097 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.571C>A (p.Arg191=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461537] |
Chr11:94476377 [GRCh38] Chr11:94209543 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.672A>G (p.Gly224=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461552] |
Chr11:94471747 [GRCh38] Chr11:94204913 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.442G>A (p.Gly148Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461563] |
Chr11:94478837 [GRCh38] Chr11:94212003 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.248G>A (p.Cys83Tyr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757242]|Hereditary cancer-predisposing syndrome [RCV002461570] |
Chr11:94485990 [GRCh38] Chr11:94219156 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.133A>C (p.Arg45=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757244]|Hereditary cancer-predisposing syndrome [RCV002461603] |
Chr11:94490853 [GRCh38] Chr11:94224019 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1665T>C (p.Ala555=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460855] |
Chr11:94447337 [GRCh38] Chr11:94180503 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1500+5G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002460868] |
Chr11:94459403 [GRCh38] Chr11:94192569 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1882A>G (p.Arg628Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461386] |
Chr11:94437221 [GRCh38] Chr11:94170387 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2006C>A (p.Thr669Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461422] |
Chr11:94429975 [GRCh38] Chr11:94163141 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.16G>T (p.Ala6Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461427] |
Chr11:94492786 [GRCh38] Chr11:94225952 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1885C>G (p.Gln629Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461430] |
Chr11:94437218 [GRCh38] Chr11:94170384 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1158G>T (p.Val386=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461434] |
Chr11:94464180 [GRCh38] Chr11:94197346 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.494G>A (p.Ser165Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461448] |
Chr11:94478785 [GRCh38] Chr11:94211951 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.47T>G (p.Leu16Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461453] |
Chr11:94490939 [GRCh38] Chr11:94224105 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.2055T>C (p.Asp685=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461455] |
Chr11:94429926 [GRCh38] Chr11:94163092 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1626T>C (p.Ala542=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461456] |
Chr11:94447376 [GRCh38] Chr11:94180542 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.21-1G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461460] |
Chr11:94490966 [GRCh38] Chr11:94224132 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.976C>A (p.Pro326Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461470] |
Chr11:94470512 [GRCh38] Chr11:94203678 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.384T>C (p.Asn128=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461486] |
Chr11:94479692 [GRCh38] Chr11:94212858 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2071G>T (p.Asp691Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461529] |
Chr11:94420181 [GRCh38] Chr11:94153347 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.402+4A>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461538] |
Chr11:94479670 [GRCh38] Chr11:94212836 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1071G>A (p.Gln357=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002461562] |
Chr11:94467840 [GRCh38] Chr11:94201006 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.95G>A (p.Arg32Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002846825] |
Chr11:94490891 [GRCh38] Chr11:94224057 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.345C>G (p.Asn115Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002824995] |
Chr11:94479731 [GRCh38] Chr11:94212897 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.13G>A (p.Asp5Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002889671] |
Chr11:94492789 [GRCh38] Chr11:94225955 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1765G>A (p.Gly589Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004107195] |
Chr11:94447237 [GRCh38] Chr11:94180403 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-17T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003037995] |
Chr11:94461053 [GRCh38] Chr11:94194219 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.860T>C (p.Leu287Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002621277]|Hereditary cancer-predisposing syndrome [RCV004946023] |
Chr11:94470628 [GRCh38] Chr11:94203794 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1185_1187del (p.Ile396del) |
deletion |
Ataxia-telangiectasia-like disorder [RCV002619422] |
Chr11:94464151..94464153 [GRCh38] Chr11:94197317..94197319 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.544+10T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002923271] |
Chr11:94478725 [GRCh38] Chr11:94211891 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1017+16A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002866907] |
Chr11:94470455 [GRCh38] Chr11:94203621 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.154-20C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002637057] |
Chr11:94486104 [GRCh38] Chr11:94219270 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.-4_13A[5]TGAGTACTGCAGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGAGTACTGCAG[1] (p.Asp5delinsGlyArgSerArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer) |
insertion |
Ataxia-telangiectasia-like disorder [RCV002820162] |
Chr11:94492788..94492789 [GRCh38] Chr11:94225954..94225955 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.760A>G (p.Thr254Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004171688] |
Chr11:94471659 [GRCh38] Chr11:94204825 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.825C>T (p.Ser275=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002885549]|Hereditary cancer-predisposing syndrome [RCV004642055] |
Chr11:94471594 [GRCh38] Chr11:94204760 [GRCh37] Chr11:11q21 |
likely benign |
NM_017704.3(ANKRD49):c.291G>C (p.Lys97Asn) |
single nucleotide variant |
not specified [RCV004160103] |
Chr11:94498103 [GRCh38] Chr11:94231269 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_017704.3(ANKRD49):c.20A>G (p.Asn7Ser) |
single nucleotide variant |
not specified [RCV004149841] |
Chr11:94496713 [GRCh38] Chr11:94229879 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1703A>C (p.Lys568Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003017887] |
Chr11:94447299 [GRCh38] Chr11:94180465 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1927-14dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV002622295] |
Chr11:94435912..94435913 [GRCh38] Chr11:94169078..94169079 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.744G>C (p.Glu248Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002668075] |
Chr11:94471675 [GRCh38] Chr11:94204841 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1225+13T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003085425] |
Chr11:94464100 [GRCh38] Chr11:94197266 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1784-13A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003083266] |
Chr11:94445906 [GRCh38] Chr11:94179072 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1513A>G (p.Arg505Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002982366] |
Chr11:94456326 [GRCh38] Chr11:94189492 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_017704.3(ANKRD49):c.136G>A (p.Val46Ile) |
single nucleotide variant |
not specified [RCV004221039] |
Chr11:94496829 [GRCh38] Chr11:94229995 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.868A>G (p.Lys290Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002790960] |
Chr11:94470620 [GRCh38] Chr11:94203786 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1927-5G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002710089]|Hereditary cancer-predisposing syndrome [RCV003308238] |
Chr11:94435904 [GRCh38] Chr11:94169070 [GRCh37] Chr11:11q21 |
likely benign|uncertain significance |
NM_005591.4(MRE11):c.462A>C (p.Gly154=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003083821] |
Chr11:94478817 [GRCh38] Chr11:94211983 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1501-15T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002624386] |
Chr11:94456353 [GRCh38] Chr11:94189519 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1868-12T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002875546] |
Chr11:94437247 [GRCh38] Chr11:94170413 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+19_1225+20inv |
inversion |
Ataxia-telangiectasia-like disorder [RCV002624826] |
Chr11:94464093..94464094 [GRCh38] Chr11:94197259..94197260 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1018-5T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002828966] |
Chr11:94467898 [GRCh38] Chr11:94201064 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1920T>A (p.Tyr640Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002890943] |
Chr11:94437183 [GRCh38] Chr11:94170349 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.2070+15T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003083800] |
Chr11:94429896 [GRCh38] Chr11:94163062 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+9A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003089879] |
Chr11:94435823 [GRCh38] Chr11:94168989 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2070+9G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002676393] |
Chr11:94429902 [GRCh38] Chr11:94163068 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1886A>G (p.Gln629Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002811619] |
Chr11:94437217 [GRCh38] Chr11:94170383 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.299A>G (p.Asn100Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002630652]|Hereditary cancer-predisposing syndrome [RCV004946024] |
Chr11:94485939 [GRCh38] Chr11:94219105 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1005_1006del (p.Phe335fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV002895321] |
Chr11:94470482..94470483 [GRCh38] Chr11:94203648..94203649 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.111T>C (p.Phe37=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002833011] |
Chr11:94490875 [GRCh38] Chr11:94224041 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.149A>C (p.Asn50Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002962814]|Hereditary cancer-predisposing syndrome [RCV004068303] |
Chr11:94490837 [GRCh38] Chr11:94224003 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1994+7G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002834074] |
Chr11:94435825 [GRCh38] Chr11:94168991 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.426C>A (p.Asp142Glu) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002933952] |
Chr11:94478853 [GRCh38] Chr11:94212019 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1867+3G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002652958] |
Chr11:94445807 [GRCh38] Chr11:94178973 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1563+7A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003066905] |
Chr11:94456269 [GRCh38] Chr11:94189435 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1172A>C (p.Asn391Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003092562]|Hereditary cancer-predisposing syndrome [RCV003161777] |
Chr11:94464166 [GRCh38] Chr11:94197332 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.232T>C (p.Leu78=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002653113] |
Chr11:94486006 [GRCh38] Chr11:94219172 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1500+10T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002609388] |
Chr11:94459398 [GRCh38] Chr11:94192564 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1927-17C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002605636] |
Chr11:94435916 [GRCh38] Chr11:94169082 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1784-17G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003071712] |
Chr11:94445910 [GRCh38] Chr11:94179076 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1927-16T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002610159] |
Chr11:94435915 [GRCh38] Chr11:94169081 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.315-1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003465969]|Ataxia-telangiectasia-like disorder [RCV002584707] |
Chr11:94479762 [GRCh38] Chr11:94212928 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.846-20T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002612017] |
Chr11:94470662 [GRCh38] Chr11:94203828 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.154-4T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV002721327] |
Chr11:94486088 [GRCh38] Chr11:94219254 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1927-16_1927-15insA |
insertion |
Ataxia-telangiectasia-like disorder [RCV002582323] |
Chr11:94435914..94435915 [GRCh38] Chr11:94169080..94169081 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.377A>G (p.His126Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003132680] |
Chr11:94479699 [GRCh38] Chr11:94212865 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1616C>T (p.Ala539Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003132682] |
Chr11:94447386 [GRCh38] Chr11:94180552 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1109G>C (p.Ser370Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003132681]|Hereditary cancer-predisposing syndrome [RCV004246022] |
Chr11:94464229 [GRCh38] Chr11:94197395 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.386A>T (p.His129Leu) |
single nucleotide variant |
Ovarian cancer [RCV003154815] |
Chr11:94479690 [GRCh38] Chr11:94212856 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.888G>T (p.Met296Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003131607] |
Chr11:94470600 [GRCh38] Chr11:94203766 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1395G>A (p.Glu465=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757260]|Hereditary cancer-predisposing syndrome [RCV003207180] |
Chr11:94459513 [GRCh38] Chr11:94192679 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1321G>A (p.Glu441Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003190337] |
Chr11:94460941 [GRCh38] Chr11:94194107 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1446G>A (p.Gln482=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164970] |
Chr11:94459462 [GRCh38] Chr11:94192628 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.707A>G (p.Asp236Gly) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757257]|Hereditary cancer-predisposing syndrome [RCV003164976] |
Chr11:94471712 [GRCh38] Chr11:94204878 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1273A>G (p.Thr425Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182378] |
Chr11:94460989 [GRCh38] Chr11:94194155 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1822T>C (p.Ser608Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182380] |
Chr11:94445855 [GRCh38] Chr11:94179021 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.875G>T (p.Arg292Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182381] |
Chr11:94470613 [GRCh38] Chr11:94203779 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.298A>C (p.Asn100His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182382] |
Chr11:94485940 [GRCh38] Chr11:94219106 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2024del (p.Met675fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003182383] |
Chr11:94429957 [GRCh38] Chr11:94163123 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.373A>G (p.Ile125Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182384] |
Chr11:94479703 [GRCh38] Chr11:94212869 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.982G>A (p.Val328Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004287469] |
Chr11:94470506 [GRCh38] Chr11:94203672 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.118C>A (p.Leu40Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164973] |
Chr11:94490868 [GRCh38] Chr11:94224034 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.832G>T (p.Glu278Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182369] |
Chr11:94471587 [GRCh38] Chr11:94204753 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1951G>A (p.Val651Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182370] |
Chr11:94435875 [GRCh38] Chr11:94169041 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1320A>G (p.Ala440=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182371] |
Chr11:94460942 [GRCh38] Chr11:94194108 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.549C>T (p.Ser183=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182372] |
Chr11:94476399 [GRCh38] Chr11:94209565 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.784del (p.Tyr262fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003466031]|Ataxia-telangiectasia-like disorder [RCV003757259]|Hereditary cancer-predisposing syndrome [RCV003182373] |
Chr11:94471635 [GRCh38] Chr11:94204801 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.33C>G (p.Asn11Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182374] |
Chr11:94490953 [GRCh38] Chr11:94224119 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.486A>G (p.Ile162Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182375] |
Chr11:94478793 [GRCh38] Chr11:94211959 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.193A>T (p.Asn65Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003191666] |
Chr11:94486045 [GRCh38] Chr11:94219211 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.88G>T (p.Ala30Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176278] |
Chr11:94490898 [GRCh38] Chr11:94224064 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.145G>A (p.Glu49Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176279] |
Chr11:94490841 [GRCh38] Chr11:94224007 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2066G>T (p.Ser689Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003176280] |
Chr11:94429915 [GRCh38] Chr11:94163081 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.402+7_402+9del |
microsatellite |
not specified [RCV003226767] |
Chr11:94479665..94479667 [GRCh38] Chr11:94212831..94212833 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1420G>C (p.Val474Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164971] |
Chr11:94459488 [GRCh38] Chr11:94192654 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2082T>C (p.Asp694=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164969] |
Chr11:94420170 [GRCh38] Chr11:94153336 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.605G>C (p.Arg202Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164972] |
Chr11:94476343 [GRCh38] Chr11:94209509 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1288G>C (p.Glu430Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302104] |
Chr11:94460974 [GRCh38] Chr11:94194140 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.179A>G (p.Asp60Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302107] |
Chr11:94486059 [GRCh38] Chr11:94219225 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1960G>A (p.Asp654Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302116] |
Chr11:94435866 [GRCh38] Chr11:94169032 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1292A>G (p.Asp431Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003302117] |
Chr11:94460970 [GRCh38] Chr11:94194136 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.617A>G (p.Asp206Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182366] |
Chr11:94476331 [GRCh38] Chr11:94209497 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1072C>T (p.Pro358Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182367] |
Chr11:94467839 [GRCh38] Chr11:94201005 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.872G>A (p.Gly291Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182376] |
Chr11:94470616 [GRCh38] Chr11:94203782 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1051C>A (p.Arg351Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182377] |
Chr11:94467860 [GRCh38] Chr11:94201026 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.254G>C (p.Gly85Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182385] |
Chr11:94485984 [GRCh38] Chr11:94219150 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.900T>C (p.Pro300=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182386] |
Chr11:94470588 [GRCh38] Chr11:94203754 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2083G>A (p.Asp695Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182388] |
Chr11:94420169 [GRCh38] Chr11:94153335 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1597T>A (p.Ser533Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182389] |
Chr11:94447405 [GRCh38] Chr11:94180571 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.420C>T (p.Ala140=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182390] |
Chr11:94478859 [GRCh38] Chr11:94212025 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.526A>T (p.Ile176Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182392] |
Chr11:94478753 [GRCh38] Chr11:94211919 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1125T>G (p.Pro375=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182393] |
Chr11:94464213 [GRCh38] Chr11:94197379 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.84A>G (p.Lys28=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182394] |
Chr11:94490902 [GRCh38] Chr11:94224068 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.17C>G (p.Ala6Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182395] |
Chr11:94492785 [GRCh38] Chr11:94225951 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1064C>G (p.Ser355Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182396] |
Chr11:94467847 [GRCh38] Chr11:94201013 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1812T>G (p.Arg604=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003182397] |
Chr11:94445865 [GRCh38] Chr11:94179031 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1531A>G (p.Asn511Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164974] |
Chr11:94456308 [GRCh38] Chr11:94189474 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.773A>C (p.Gln258Pro) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592012]|Hereditary cancer-predisposing syndrome [RCV003300638] |
Chr11:94471646 [GRCh38] Chr11:94204812 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1859T>C (p.Ile620Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003164975] |
Chr11:94445818 [GRCh38] Chr11:94178984 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.198G>A (p.Lys66=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757258]|Hereditary cancer-predisposing syndrome [RCV003164977] |
Chr11:94486040 [GRCh38] Chr11:94219206 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.901C>T (p.Leu301Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003288302] |
Chr11:94470587 [GRCh38] Chr11:94203753 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1931T>C (p.Ile644Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310248] |
Chr11:94435895 [GRCh38] Chr11:94169061 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.369T>C (p.Phe123=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310250] |
Chr11:94479707 [GRCh38] Chr11:94212873 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.407A>G (p.Asp136Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310251] |
Chr11:94478872 [GRCh38] Chr11:94212038 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.496C>T (p.Pro166Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003310252] |
Chr11:94478783 [GRCh38] Chr11:94211949 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1994+2T>A |
single nucleotide variant |
not provided [RCV003326844] |
Chr11:94435830 [GRCh38] Chr11:94168996 [GRCh37] Chr11:11q21 |
pathogenic |
GRCh37/hg19 11q21(chr11:94126651-94331081)x1 |
copy number loss |
not provided [RCV003334143] |
Chr11:94126651..94331081 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1917T>C (p.Asn639=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003342551] |
Chr11:94437186 [GRCh38] Chr11:94170352 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.339T>A (p.Asp113Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358259] |
Chr11:94479737 [GRCh38] Chr11:94212903 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1758G>C (p.Ser586=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358260] |
Chr11:94447244 [GRCh38] Chr11:94180410 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.949C>G (p.His317Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358265] |
Chr11:94470539 [GRCh38] Chr11:94203705 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1674T>A (p.Ser558=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358264] |
Chr11:94447328 [GRCh38] Chr11:94180494 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.797C>A (p.Pro266His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358266] |
Chr11:94471622 [GRCh38] Chr11:94204788 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1200G>A (p.Arg400=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358262] |
Chr11:94464138 [GRCh38] Chr11:94197304 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1179A>T (p.Lys393Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358267] |
Chr11:94464159 [GRCh38] Chr11:94197325 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1520C>T (p.Thr507Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358258] |
Chr11:94456319 [GRCh38] Chr11:94189485 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.17C>T (p.Ala6Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358263] |
Chr11:94492785 [GRCh38] Chr11:94225951 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.407A>C (p.Asp136Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003358261] |
Chr11:94478872 [GRCh38] Chr11:94212038 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1229A>G (p.Glu410Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003344666] |
Chr11:94461033 [GRCh38] Chr11:94194199 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1175C>T (p.Pro392Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377577] |
Chr11:94464163 [GRCh38] Chr11:94197329 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1965T>G (p.Ile655Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003377578] |
Chr11:94435861 [GRCh38] Chr11:94169027 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2120_*2del (p.Arg707fs) |
deletion |
Hereditary cancer-predisposing syndrome [RCV003368268] |
Chr11:94420123..94420132 [GRCh38] Chr11:94153289..94153298 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1511T>C (p.Phe504Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368269] |
Chr11:94456328 [GRCh38] Chr11:94189494 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1633C>T (p.Leu545Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368270] |
Chr11:94447369 [GRCh38] Chr11:94180535 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1223C>A (p.Thr408Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368271] |
Chr11:94464115 [GRCh38] Chr11:94197281 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.761C>A (p.Thr254Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368272] |
Chr11:94471658 [GRCh38] Chr11:94204824 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.277A>G (p.Ile93Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368274] |
Chr11:94485961 [GRCh38] Chr11:94219127 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.528T>G (p.Ile176Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368275] |
Chr11:94478751 [GRCh38] Chr11:94211917 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.870A>G (p.Lys290=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368276] |
Chr11:94470618 [GRCh38] Chr11:94203784 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1579A>C (p.Arg527=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368265] |
Chr11:94447423 [GRCh38] Chr11:94180589 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.150T>A (p.Asn50Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368266] |
Chr11:94490836 [GRCh38] Chr11:94224002 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1520C>G (p.Thr507Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368267] |
Chr11:94456319 [GRCh38] Chr11:94189485 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.622A>C (p.Asn208His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003368273] |
Chr11:94476326 [GRCh38] Chr11:94209492 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.771del (p.Glu257fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470192] |
Chr11:94471648 [GRCh38] Chr11:94204814 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.323G>A (p.Trp108Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470194] |
Chr11:94479753 [GRCh38] Chr11:94212919 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.701del (p.Leu234fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470207] |
Chr11:94471718 [GRCh38] Chr11:94204884 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1326+2T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470208] |
Chr11:94460934 [GRCh38] Chr11:94194100 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1327-1del |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470210] |
Chr11:94459582 [GRCh38] Chr11:94192748 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1356_1357del (p.Gly453fs) |
microsatellite |
Ataxia-telangiectasia-like disorder 1 [RCV003470195] |
Chr11:94459551..94459552 [GRCh38] Chr11:94192717..94192718 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.2071-15T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003461878] |
Chr11:94420196 [GRCh38] Chr11:94153362 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098+7C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003881164] |
Chr11:94467806 [GRCh38] Chr11:94200972 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1327-11G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003875255] |
Chr11:94459592 [GRCh38] Chr11:94192758 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1863A>C (p.Ile621=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003873298]|Hereditary cancer-predisposing syndrome [RCV004369582] |
Chr11:94445814 [GRCh38] Chr11:94178980 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1916A>C (p.Asn639Thr) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470196]|Hereditary cancer-predisposing syndrome [RCV004364780] |
Chr11:94437187 [GRCh38] Chr11:94170353 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2029C>T (p.Gln677Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470197]|Hereditary cancer-predisposing syndrome [RCV004636746] |
Chr11:94429952 [GRCh38] Chr11:94163118 [GRCh37] Chr11:11q21 |
likely pathogenic|uncertain significance |
NM_005591.4(MRE11):c.1098+1del |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470204] |
Chr11:94467812 [GRCh38] Chr11:94200978 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.330del (p.Tyr111fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470205] |
Chr11:94479746 [GRCh38] Chr11:94212912 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.20+3A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470212] |
Chr11:94492779 [GRCh38] Chr11:94225945 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.659+10T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003875720] |
Chr11:94476279 [GRCh38] Chr11:94209445 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1995-25TGTTTT[4] |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV003874342] |
Chr11:94429993..94429994 [GRCh38] Chr11:94163159..94163160 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1660A>G (p.Met554Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003872692] |
Chr11:94447342 [GRCh38] Chr11:94180508 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.233T>G (p.Leu78Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003476512] |
Chr11:94486005 [GRCh38] Chr11:94219171 [GRCh37] Chr11:11q21 |
likely pathogenic |
GRCh37/hg19 11q21(chr11:94130774-94676552)x1 |
copy number loss |
not provided [RCV003483135] |
Chr11:94130774..94676552 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.286G>C (p.Asp96His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470198] |
Chr11:94485952 [GRCh38] Chr11:94219118 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.690del (p.Glu231fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470200] |
Chr11:94471729 [GRCh38] Chr11:94204895 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1288G>T (p.Glu430Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470206] |
Chr11:94460974 [GRCh38] Chr11:94194140 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1744_1747dup (p.Asn583fs) |
duplication |
Ataxia-telangiectasia-like disorder 1 [RCV003470191] |
Chr11:94447254..94447255 [GRCh38] Chr11:94180420..94180421 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1545del (p.Asp516fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470199] |
Chr11:94456294 [GRCh38] Chr11:94189460 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.391G>C (p.Asp131His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592033]|MRE11-related disorder [RCV003429064] |
Chr11:94479685 [GRCh38] Chr11:94212851 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470193]|Ataxia-telangiectasia-like disorder [RCV003757271] |
Chr11:94459447..94459450 [GRCh38] Chr11:94192613..94192616 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1069C>T (p.Gln357Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470211] |
Chr11:94467842 [GRCh38] Chr11:94201008 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1127del (p.Phe376fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003461877]|Ataxia-telangiectasia-like disorder [RCV003757272] |
Chr11:94464211 [GRCh38] Chr11:94197377 [GRCh37] Chr11:11q21 |
pathogenic|likely pathogenic |
NM_005591.4(MRE11):c.1187del (p.Ile396fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003461879] |
Chr11:94464151 [GRCh38] Chr11:94197317 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.314+1G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003461880] |
Chr11:94485923 [GRCh38] Chr11:94219089 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1098+1G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470201] |
Chr11:94467812 [GRCh38] Chr11:94200978 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1775G>A (p.Arg592Lys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV003470202]|Hereditary cancer-predisposing syndrome [RCV004634268] |
Chr11:94447227 [GRCh38] Chr11:94180393 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1798del (p.Glu600fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV003470209] |
Chr11:94445879 [GRCh38] Chr11:94179045 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.668A>G (p.His223Arg) |
single nucleotide variant |
Eccrine porocarcinoma [RCV003459026]|Hereditary cancer-predisposing syndrome [RCV004364717] |
Chr11:94471751 [GRCh38] Chr11:94204917 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.*660_*663dup |
duplication |
not provided [RCV003396020] |
Chr11:94419461..94419462 [GRCh38] Chr11:94152627..94152628 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.1550A>C (p.Asp517Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591356] |
Chr11:94456289 [GRCh38] Chr11:94189455 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1500+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592413] |
Chr11:94459407 [GRCh38] Chr11:94192573 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.659+15del |
deletion |
Ataxia-telangiectasia-like disorder [RCV003591572] |
Chr11:94476274 [GRCh38] Chr11:94209440 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1226-12C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592463] |
Chr11:94461048 [GRCh38] Chr11:94194214 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.34A>G (p.Thr12Ala) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591579] |
Chr11:94490952 [GRCh38] Chr11:94224118 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.20+16C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591583] |
Chr11:94492766 [GRCh38] Chr11:94225932 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.845+13T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592493] |
Chr11:94471561 [GRCh38] Chr11:94204727 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.694C>T (p.Gln232Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591451] |
Chr11:94471725 [GRCh38] Chr11:94204891 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1868-11T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591518] |
Chr11:94437246 [GRCh38] Chr11:94170412 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1275A>G (p.Thr425=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592239]|Hereditary cancer-predisposing syndrome [RCV004371467] |
Chr11:94460987 [GRCh38] Chr11:94194153 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+11T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592515] |
Chr11:94476278 [GRCh38] Chr11:94209444 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153A>G (p.Glu51=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592189] |
Chr11:94490833 [GRCh38] Chr11:94223999 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1783+19C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592193] |
Chr11:94447200 [GRCh38] Chr11:94180366 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1098+18A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592588] |
Chr11:94467795 [GRCh38] Chr11:94200961 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+10G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592591] |
Chr11:94490823 [GRCh38] Chr11:94223989 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1494T>C (p.Asp498=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003829580] |
Chr11:94459414 [GRCh38] Chr11:94192580 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1250_1251del (p.Leu417fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV003591610] |
Chr11:94461011..94461012 [GRCh38] Chr11:94194177..94194178 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.393T>C (p.Asp131=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591616] |
Chr11:94479683 [GRCh38] Chr11:94212849 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-20A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591401] |
Chr11:94464259 [GRCh38] Chr11:94197425 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1770T>C (p.Ser590=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591283] |
Chr11:94447232 [GRCh38] Chr11:94180398 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1140C>T (p.Arg380=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591460] |
Chr11:94464198 [GRCh38] Chr11:94197364 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.768del (p.Asn256fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV003591463] |
Chr11:94471651 [GRCh38] Chr11:94204817 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.368T>G (p.Phe123Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003824675] |
Chr11:94479708 [GRCh38] Chr11:94212874 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1300A>T (p.Lys434Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591487] |
Chr11:94460962 [GRCh38] Chr11:94194128 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1994+7G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003876886] |
Chr11:94435825 [GRCh38] Chr11:94168991 [GRCh37] Chr11:11q21 |
likely benign |
NC_000011.10:g.94456339dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV003591504] |
Chr11:94456337..94456338 [GRCh38] Chr11:94189503..94189504 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1101G>C (p.Val367=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003829063] |
Chr11:94464237 [GRCh38] Chr11:94197403 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.846-9C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003876804] |
Chr11:94470651 [GRCh38] Chr11:94203817 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+20G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592797] |
Chr11:94490813 [GRCh38] Chr11:94223979 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1226-6T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592780] |
Chr11:94461042 [GRCh38] Chr11:94194208 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2071-20A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593012] |
Chr11:94420201 [GRCh38] Chr11:94153367 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1867+10G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593152] |
Chr11:94445800 [GRCh38] Chr11:94178966 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1A>G (p.Met1Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593141] |
Chr11:94492801 [GRCh38] Chr11:94225967 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1868-4C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756815] |
Chr11:94437239 [GRCh38] Chr11:94170405 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1326+12C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592770] |
Chr11:94460924 [GRCh38] Chr11:94194090 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.730G>A (p.Gly244Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756851] |
Chr11:94471689 [GRCh38] Chr11:94204855 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1098+16A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756857] |
Chr11:94467797 [GRCh38] Chr11:94200963 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.311G>A (p.Ser104Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756689] |
Chr11:94485927 [GRCh38] Chr11:94219093 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1099-18A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756713] |
Chr11:94464257 [GRCh38] Chr11:94197423 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1563+18A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756901] |
Chr11:94456258 [GRCh38] Chr11:94189424 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+5G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756720] |
Chr11:94490828 [GRCh38] Chr11:94223994 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1867+17A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592985] |
Chr11:94445793 [GRCh38] Chr11:94178959 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1564-8C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756925] |
Chr11:94447446 [GRCh38] Chr11:94180612 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1926+18A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593179] |
Chr11:94437159 [GRCh38] Chr11:94170325 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.489_490del (p.Asp163_Ile164insTer) |
deletion |
Ataxia-telangiectasia-like disorder [RCV003593182] |
Chr11:94478789..94478790 [GRCh38] Chr11:94211955..94211956 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1371A>G (p.Ala457=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003756960]|Hereditary cancer-predisposing syndrome [RCV004374215] |
Chr11:94459537 [GRCh38] Chr11:94192703 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1783+19C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592738] |
Chr11:94447200 [GRCh38] Chr11:94180366 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+9G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592874] |
Chr11:94490824 [GRCh38] Chr11:94223990 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.314+13A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592965] |
Chr11:94485911 [GRCh38] Chr11:94219077 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.490_496dup (p.Pro166delinsHisTer) |
duplication |
Ataxia-telangiectasia-like disorder [RCV003593163]|Hereditary cancer-predisposing syndrome [RCV004369235] |
Chr11:94478782..94478783 [GRCh38] Chr11:94211948..94211949 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1680T>C (p.Asp560=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593266] |
Chr11:94447322 [GRCh38] Chr11:94180488 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+18A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003817205] |
Chr11:94476271 [GRCh38] Chr11:94209437 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1927-13G>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593269] |
Chr11:94435912 [GRCh38] Chr11:94169078 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.402+8T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593270] |
Chr11:94479666 [GRCh38] Chr11:94212832 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+9G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592747] |
Chr11:94464104 [GRCh38] Chr11:94197270 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1327-7C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003593236] |
Chr11:94459588 [GRCh38] Chr11:94192754 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.696A>G (p.Gln232=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003855074] |
Chr11:94471723 [GRCh38] Chr11:94204889 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.982_983insCCTGTATGGCTTG (p.Val328fs) |
insertion |
Ataxia-telangiectasia-like disorder [RCV003592691] |
Chr11:94470505..94470506 [GRCh38] Chr11:94203671..94203672 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.2070+13T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003836285] |
Chr11:94429898 [GRCh38] Chr11:94163064 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.403-16A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003592913] |
Chr11:94478892 [GRCh38] Chr11:94212058 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-11T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003844771] |
Chr11:94464250 [GRCh38] Chr11:94197416 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+9A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757514] |
Chr11:94435823 [GRCh38] Chr11:94168989 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.846-7A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757420] |
Chr11:94470649 [GRCh38] Chr11:94203815 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2043G>C (p.Ser681=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757886] |
Chr11:94429938 [GRCh38] Chr11:94163104 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2071-20_2071-18del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV003757573] |
Chr11:94420199..94420201 [GRCh38] Chr11:94153365..94153367 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.142del (p.Gln48fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV003757577] |
Chr11:94490844 [GRCh38] Chr11:94224010 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1994+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757350] |
Chr11:94435831 [GRCh38] Chr11:94168997 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1017+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757385] |
Chr11:94470470 [GRCh38] Chr11:94203636 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1018-19T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757395] |
Chr11:94467912 [GRCh38] Chr11:94201078 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.314+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757735] |
Chr11:94485923 [GRCh38] Chr11:94219089 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.402+14del |
deletion |
Ataxia-telangiectasia-like disorder [RCV003757858] |
Chr11:94479660 [GRCh38] Chr11:94212826 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.2012C>G (p.Ser671Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003846003] |
Chr11:94429969 [GRCh38] Chr11:94163135 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1926+14T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003865061] |
Chr11:94437163 [GRCh38] Chr11:94170329 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1419del (p.Leu473_Val474insTer) |
deletion |
Ataxia-telangiectasia-like disorder [RCV003757874] |
Chr11:94459489 [GRCh38] Chr11:94192655 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.20+9C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003758123] |
Chr11:94492773 [GRCh38] Chr11:94225939 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1566T>C (p.Ala522=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757387] |
Chr11:94447436 [GRCh38] Chr11:94180602 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2025G>T (p.Met675Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757476] |
Chr11:94429956 [GRCh38] Chr11:94163122 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.659+18_659+19insC |
insertion |
Ataxia-telangiectasia-like disorder [RCV003757941] |
Chr11:94476270..94476271 [GRCh38] Chr11:94209436..94209437 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1867+11A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757810] |
Chr11:94445799 [GRCh38] Chr11:94178965 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.403-8T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757734] |
Chr11:94478884 [GRCh38] Chr11:94212050 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.621G>C (p.Glu207Asp) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757829] |
Chr11:94476327 [GRCh38] Chr11:94209493 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1456_1462dup (p.Arg488fs) |
duplication |
Ataxia-telangiectasia-like disorder [RCV003757865] |
Chr11:94459445..94459446 [GRCh38] Chr11:94192611..94192612 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.402+20_402+21del |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV003757878] |
Chr11:94479653..94479654 [GRCh38] Chr11:94212819..94212820 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+20G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757928] |
Chr11:94435812 [GRCh38] Chr11:94168978 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1106A>C (p.Tyr369Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003822308] |
Chr11:94464232 [GRCh38] Chr11:94197398 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.175G>C (p.Gly59Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757313] |
Chr11:94486063 [GRCh38] Chr11:94219229 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1564-7C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757442] |
Chr11:94447445 [GRCh38] Chr11:94180611 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1867+7A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757503] |
Chr11:94445803 [GRCh38] Chr11:94178969 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.576G>C (p.Met192Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003866200]|Hereditary cancer-predisposing syndrome [RCV004369547] |
Chr11:94476372 [GRCh38] Chr11:94209538 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.544+2_544+5dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV003757705] |
Chr11:94478729..94478730 [GRCh38] Chr11:94211895..94211896 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1308C>G (p.Tyr436Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757780] |
Chr11:94460954 [GRCh38] Chr11:94194120 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1522del (p.Arg508fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV003758043] |
Chr11:94456317 [GRCh38] Chr11:94189483 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1363G>A (p.Gly455Ser) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003872223] |
Chr11:94459545 [GRCh38] Chr11:94192711 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-18A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757320] |
Chr11:94461054 [GRCh38] Chr11:94194220 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1311T>C (p.Phe437=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757335]|Hereditary cancer-predisposing syndrome [RCV004371527] |
Chr11:94460951 [GRCh38] Chr11:94194117 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+11del |
deletion |
Ataxia-telangiectasia-like disorder [RCV003757359] |
Chr11:94476278 [GRCh38] Chr11:94209444 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.20+2T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757479] |
Chr11:94492780 [GRCh38] Chr11:94225946 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.845+12A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003870520] |
Chr11:94471562 [GRCh38] Chr11:94204728 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.845+7_845+17dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV003845704] |
Chr11:94471556..94471557 [GRCh38] Chr11:94204722..94204723 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.154-12dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV003757871] |
Chr11:94486095..94486096 [GRCh38] Chr11:94219261..94219262 [GRCh37] Chr11:11q21 |
benign |
NM_005591.4(MRE11):c.2071-7A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003758191] |
Chr11:94420188 [GRCh38] Chr11:94153354 [GRCh37] Chr11:11q21 |
pathogenic|likely benign |
NM_005591.4(MRE11):c.659+10T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003861760] |
Chr11:94476279 [GRCh38] Chr11:94209445 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+18A>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003758144] |
Chr11:94476271 [GRCh38] Chr11:94209437 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.20+8C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003758039] |
Chr11:94492774 [GRCh38] Chr11:94225940 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1226-17T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003846289] |
Chr11:94461053 [GRCh38] Chr11:94194219 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.315-17A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757048] |
Chr11:94479778 [GRCh38] Chr11:94212944 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.659+18A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757289] |
Chr11:94476271 [GRCh38] Chr11:94209437 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.154-17C>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591137] |
Chr11:94486101 [GRCh38] Chr11:94219267 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1018-18C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591204] |
Chr11:94467911 [GRCh38] Chr11:94201077 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.20+4A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757295] |
Chr11:94492778 [GRCh38] Chr11:94225944 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1326+10dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV003757301] |
Chr11:94460925..94460926 [GRCh38] Chr11:94194091..94194092 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.163_167del (p.Ile55fs) |
microsatellite |
Ataxia-telangiectasia-like disorder [RCV003757401]|Hereditary cancer-predisposing syndrome [RCV004943138] |
Chr11:94486071..94486075 [GRCh38] Chr11:94219237..94219241 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1916A>T (p.Asn639Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003591346] |
Chr11:94437187 [GRCh38] Chr11:94170353 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1607C>G (p.Ser536Cys) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757470] |
Chr11:94447395 [GRCh38] Chr11:94180561 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1564-20C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757631] |
Chr11:94447458 [GRCh38] Chr11:94180624 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.56C>G (p.Thr19Arg) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757415] |
Chr11:94490930 [GRCh38] Chr11:94224096 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1447C>A (p.Arg483=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757598]|not provided [RCV003992783] |
Chr11:94459461 [GRCh38] Chr11:94192627 [GRCh37] Chr11:11q21 |
pathogenic|likely benign |
NM_005591.4(MRE11):c.1841C>T (p.Ala614Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757655] |
Chr11:94445836 [GRCh38] Chr11:94179002 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1784-20_1784-17del |
deletion |
Ataxia-telangiectasia-like disorder [RCV003757727] |
Chr11:94445910..94445913 [GRCh38] Chr11:94179076..94179079 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.315-12T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757736] |
Chr11:94479773 [GRCh38] Chr11:94212939 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-13T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757538] |
Chr11:94464252 [GRCh38] Chr11:94197418 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1017+11T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757751] |
Chr11:94470460 [GRCh38] Chr11:94203626 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.845+19G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757782] |
Chr11:94471555 [GRCh38] Chr11:94204721 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.76_77del (p.Met26fs) |
deletion |
Ataxia-telangiectasia-like disorder [RCV003757796] |
Chr11:94490909..94490910 [GRCh38] Chr11:94224075..94224076 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1326+4A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757778]|Hereditary cancer-predisposing syndrome [RCV004636804] |
Chr11:94460932 [GRCh38] Chr11:94194098 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.659+7C>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003848270] |
Chr11:94476282 [GRCh38] Chr11:94209448 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.153+18T>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV003757870] |
Chr11:94490815 [GRCh38] Chr11:94223981 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1226-12del |
deletion |
Ataxia-telangiectasia-like disorder [RCV003757984] |
Chr11:94461048 [GRCh38] Chr11:94194214 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1080G>T (p.Lys360Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521504] |
Chr11:94467831 [GRCh38] Chr11:94200997 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1292A>C (p.Asp431Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521512] |
Chr11:94460970 [GRCh38] Chr11:94194136 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1409T>A (p.Ile470Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521514] |
Chr11:94459499 [GRCh38] Chr11:94192665 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1488A>T (p.Lys496Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521515] |
Chr11:94459420 [GRCh38] Chr11:94192586 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1635T>A (p.Leu545=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521524] |
Chr11:94447367 [GRCh38] Chr11:94180533 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1635T>C (p.Leu545=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521525] |
Chr11:94447367 [GRCh38] Chr11:94180533 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1813A>T (p.Ser605Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521534] |
Chr11:94445864 [GRCh38] Chr11:94179030 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1858A>C (p.Ile620Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521537] |
Chr11:94445819 [GRCh38] Chr11:94178985 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.957C>T (p.Asp319=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521567] |
Chr11:94470531 [GRCh38] Chr11:94203697 [GRCh37] Chr11:11q21 |
likely benign |
NM_017704.3(ANKRD49):c.255T>A (p.Asn85Lys) |
single nucleotide variant |
not specified [RCV004422224] |
Chr11:94496948 [GRCh38] Chr11:94230114 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1571C>A (p.Thr524Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521519] |
Chr11:94447431 [GRCh38] Chr11:94180597 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1929G>C (p.Val643=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521541] |
Chr11:94435897 [GRCh38] Chr11:94169063 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1735G>C (p.Gly579Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521529] |
Chr11:94447267 [GRCh38] Chr11:94180433 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1767G>A (p.Gly589=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521531] |
Chr11:94447235 [GRCh38] Chr11:94180401 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1797G>A (p.Leu599=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521532] |
Chr11:94445880 [GRCh38] Chr11:94179046 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.180T>A (p.Asp60Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521533] |
Chr11:94486058 [GRCh38] Chr11:94219224 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1840G>C (p.Ala614Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521536] |
Chr11:94445837 [GRCh38] Chr11:94179003 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1905C>T (p.Val635=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521540] |
Chr11:94437198 [GRCh38] Chr11:94170364 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.321A>T (p.Pro107=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521547] |
Chr11:94479755 [GRCh38] Chr11:94212921 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.461G>C (p.Gly154Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521548] |
Chr11:94478818 [GRCh38] Chr11:94211984 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.503T>C (p.Leu168Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521549] |
Chr11:94478776 [GRCh38] Chr11:94211942 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.584A>G (p.Asn195Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521552] |
Chr11:94476364 [GRCh38] Chr11:94209530 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.784T>A (p.Tyr262Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521557] |
Chr11:94471635 [GRCh38] Chr11:94204801 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.821T>A (p.Leu274His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521558] |
Chr11:94471598 [GRCh38] Chr11:94204764 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.84A>C (p.Lys28Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521559] |
Chr11:94490902 [GRCh38] Chr11:94224068 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.917A>G (p.Gln306Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521561] |
Chr11:94470571 [GRCh38] Chr11:94203737 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.936T>C (p.Ile312=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521565] |
Chr11:94470552 [GRCh38] Chr11:94203718 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1581A>G (p.Arg527=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521520] |
Chr11:94447421 [GRCh38] Chr11:94180587 [GRCh37] Chr11:11q21 |
likely benign |
GRCh37/hg19 11q21(chr11:94130773-94280193)x1 |
copy number loss |
not specified [RCV003986913] |
Chr11:94130773..94280193 [GRCh37] Chr11:11q21 |
pathogenic |
NM_017704.3(ANKRD49):c.460A>G (p.Thr154Ala) |
single nucleotide variant |
not specified [RCV004422225] |
Chr11:94498272 [GRCh38] Chr11:94231438 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1027A>G (p.Met343Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521501] |
Chr11:94467884 [GRCh38] Chr11:94201050 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1063T>G (p.Ser355Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521503] |
Chr11:94467848 [GRCh38] Chr11:94201014 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1097G>C (p.Arg366Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521505] |
Chr11:94467814 [GRCh38] Chr11:94200980 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1102G>A (p.Asp368Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521506] |
Chr11:94464236 [GRCh38] Chr11:94197402 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1170T>C (p.Ala390=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521507] |
Chr11:94464168 [GRCh38] Chr11:94197334 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1196T>G (p.Phe399Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521508] |
Chr11:94464142 [GRCh38] Chr11:94197308 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1234A>G (p.Ile412Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521510]|not provided [RCV005000509] |
Chr11:94461028 [GRCh38] Chr11:94194194 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1532A>T (p.Asn511Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521516] |
Chr11:94456307 [GRCh38] Chr11:94189473 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1605G>T (p.Glu535Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521521] |
Chr11:94447397 [GRCh38] Chr11:94180563 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1633C>A (p.Leu545Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521523] |
Chr11:94447369 [GRCh38] Chr11:94180535 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1717G>A (p.Gly573Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521527] |
Chr11:94447285 [GRCh38] Chr11:94180451 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1816A>T (p.Arg606Trp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521535] |
Chr11:94445861 [GRCh38] Chr11:94179027 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1877C>T (p.Ser626Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521538] |
Chr11:94437226 [GRCh38] Chr11:94170392 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2016C>T (p.Ser672=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521542] |
Chr11:94429965 [GRCh38] Chr11:94163131 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2044A>G (p.Lys682Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521543] |
Chr11:94429937 [GRCh38] Chr11:94163103 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2102G>A (p.Ser701Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521544] |
Chr11:94420150 [GRCh38] Chr11:94153316 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.268C>G (p.Gln90Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521546] |
Chr11:94485970 [GRCh38] Chr11:94219136 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.562A>C (p.Arg188=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521551] |
Chr11:94476386 [GRCh38] Chr11:94209552 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.668A>C (p.His223Pro) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521553] |
Chr11:94471751 [GRCh38] Chr11:94204917 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.735T>C (p.His245=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521554] |
Chr11:94471684 [GRCh38] Chr11:94204850 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.927G>T (p.Met309Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521563] |
Chr11:94470561 [GRCh38] Chr11:94203727 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.928G>C (p.Glu310Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521564] |
Chr11:94470560 [GRCh38] Chr11:94203726 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.977C>G (p.Pro326Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521569] |
Chr11:94470511 [GRCh38] Chr11:94203677 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.3:c.1280_1281insALU |
insertion |
Hereditary cancer-predisposing syndrome [RCV004521511] |
|
likely pathogenic |
NM_005591.4(MRE11):c.1537A>G (p.Asn513Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521517] |
Chr11:94456302 [GRCh38] Chr11:94189468 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1675G>A (p.Asp559Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521526] |
Chr11:94447327 [GRCh38] Chr11:94180493 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1740A>C (p.Arg580Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521530] |
Chr11:94447262 [GRCh38] Chr11:94180428 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1891C>T (p.Pro631Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521539] |
Chr11:94437212 [GRCh38] Chr11:94170378 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.76A>C (p.Met26Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521555] |
Chr11:94490910 [GRCh38] Chr11:94224076 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.780G>A (p.Leu260=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521556] |
Chr11:94471639 [GRCh38] Chr11:94204805 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.86A>T (p.Asp29Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521560] |
Chr11:94490900 [GRCh38] Chr11:94224066 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.925A>G (p.Met309Val) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005100515]|Hereditary cancer-predisposing syndrome [RCV004521562] |
Chr11:94470563 [GRCh38] Chr11:94203729 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.975T>C (p.Asn325=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004521568] |
Chr11:94470513 [GRCh38] Chr11:94203679 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.726C>G (p.Ile242Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004499006] |
Chr11:94471693 [GRCh38] Chr11:94204859 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1226-912C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004555206] |
Chr11:94461948 [GRCh38] Chr11:94195114 [GRCh37] Chr11:11q21 |
likely pathogenic |
NC_000011.9:g.(?_94223979)_(94224151_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV004580222] |
Chr11:94223979..94224151 [GRCh37] Chr11:11q21 |
pathogenic |
NC_000011.9:g.(?_94153291)_(94170411_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV004580224] |
Chr11:94153291..94170411 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.9:g.(?_94219070)_(94224151_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV004580226] |
Chr11:94219070..94224151 [GRCh37] Chr11:11q21 |
pathogenic |
NC_000011.9:g.(?_94209435)_(94219270_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV004580228] |
Chr11:94209435..94219270 [GRCh37] Chr11:11q21 |
pathogenic |
NC_000011.9:g.(?_94209445)_(94225967_?)dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV004580229] |
Chr11:94209445..94225967 [GRCh37] Chr11:11q21 |
uncertain significance |
NC_000011.9:g.(?_94200959)_(94204945_?)dup |
duplication |
Ataxia-telangiectasia-like disorder [RCV004580230] |
Chr11:94200959..94204945 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1488A>C (p.Lys496Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643518] |
Chr11:94459420 [GRCh38] Chr11:94192586 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1001G>A (p.Ser334Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643519] |
Chr11:94470487 [GRCh38] Chr11:94203653 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.557A>G (p.Asp186Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643531] |
Chr11:94476391 [GRCh38] Chr11:94209557 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1374A>C (p.Val458=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643532] |
Chr11:94459534 [GRCh38] Chr11:94192700 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1912A>G (p.Lys638Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643533] |
Chr11:94437191 [GRCh38] Chr11:94170357 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.923del (p.Phe308fs) |
deletion |
Ataxia-telangiectasia-like disorder 1 [RCV004576218] |
Chr11:94470565 [GRCh38] Chr11:94203731 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1598C>A (p.Ser533Ter) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004576219] |
Chr11:94447404 [GRCh38] Chr11:94180570 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.2083G>C (p.Asp695His) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004576220] |
Chr11:94420169 [GRCh38] Chr11:94153335 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.20+1G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004576221] |
Chr11:94492781 [GRCh38] Chr11:94225947 [GRCh37] Chr11:11q21 |
likely pathogenic |
NC_000011.9:g.(?_94219080)_(94219260_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV004580223] |
Chr11:94219080..94219260 [GRCh37] Chr11:11q21 |
pathogenic |
NC_000011.9:g.(?_94209445)_(94225967_?)del |
deletion |
Ataxia-telangiectasia-like disorder [RCV004580225] |
Chr11:94209445..94225967 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.25G>A (p.Asp9Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629103] |
Chr11:94490961 [GRCh38] Chr11:94224127 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1571C>T (p.Thr524Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629106] |
Chr11:94447431 [GRCh38] Chr11:94180597 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1228G>A (p.Glu410Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629107] |
Chr11:94461034 [GRCh38] Chr11:94194200 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1012G>A (p.Glu338Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629108] |
Chr11:94470476 [GRCh38] Chr11:94203642 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1767G>T (p.Gly589=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629109] |
Chr11:94447235 [GRCh38] Chr11:94180401 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.918G>T (p.Gln306His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629110] |
Chr11:94470570 [GRCh38] Chr11:94203736 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1159G>C (p.Asp387His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629111] |
Chr11:94464179 [GRCh38] Chr11:94197345 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.911T>G (p.Val304Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629112] |
Chr11:94470577 [GRCh38] Chr11:94203743 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.20dup (p.Asp8Ter) |
duplication |
Hereditary cancer-predisposing syndrome [RCV004643522] |
Chr11:94492781..94492782 [GRCh38] Chr11:94225947..94225948 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.545G>T (p.Gly182Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643524] |
Chr11:94476403 [GRCh38] Chr11:94209569 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1065T>C (p.Ser355=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643528] |
Chr11:94467846 [GRCh38] Chr11:94201012 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1430A>G (p.Gln477Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643535] |
Chr11:94459478 [GRCh38] Chr11:94192644 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.787A>G (p.Ile263Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643536] |
Chr11:94471632 [GRCh38] Chr11:94204798 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1215G>C (p.Lys405Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643539] |
Chr11:94464123 [GRCh38] Chr11:94197289 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.22G>T (p.Asp8Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643540] |
Chr11:94490964 [GRCh38] Chr11:94224130 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.403G>A (p.Ala135Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643521] |
Chr11:94478876 [GRCh38] Chr11:94212042 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1815C>T (p.Ser605=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643527] |
Chr11:94445862 [GRCh38] Chr11:94179028 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1246A>G (p.Lys416Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643530] |
Chr11:94461016 [GRCh38] Chr11:94194182 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1391A>G (p.Lys464Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643537] |
Chr11:94459517 [GRCh38] Chr11:94192683 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1056G>A (p.Leu352=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643538] |
Chr11:94467855 [GRCh38] Chr11:94201021 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1018-4_1018-2delinsGG |
indel |
Ataxia-telangiectasia-like disorder 1 [RCV004576215] |
Chr11:94467895..94467897 [GRCh38] Chr11:94201061..94201063 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.2080G>A (p.Asp694Asn) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV004576216]|Hereditary cancer-predisposing syndrome [RCV004943307] |
Chr11:94420172 [GRCh38] Chr11:94153338 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.893A>G (p.Lys298Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643529] |
Chr11:94470595 [GRCh38] Chr11:94203761 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.232T>G (p.Leu78Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004643534] |
Chr11:94486006 [GRCh38] Chr11:94219172 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.488A>T (p.Asp163Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629113] |
Chr11:94478791 [GRCh38] Chr11:94211957 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1836G>A (p.Val612=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629114] |
Chr11:94445841 [GRCh38] Chr11:94179007 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1701C>T (p.Asn567=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005102295]|Hereditary cancer-predisposing syndrome [RCV004629115] |
Chr11:94447301 [GRCh38] Chr11:94180467 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1730G>A (p.Arg577Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629116] |
Chr11:94447272 [GRCh38] Chr11:94180438 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.995T>C (p.Ile332Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004629117] |
Chr11:94470493 [GRCh38] Chr11:94203659 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1742_1743insAT (p.Gln582fs) |
insertion |
Ataxia-telangiectasia-like disorder 1 [RCV005006646]|not provided [RCV005000633] |
Chr11:94447259..94447260 [GRCh38] Chr11:94180425..94180426 [GRCh37] Chr11:11q21 |
likely pathogenic |
GRCh37/hg19 11q14.1-22.1(chr11:81041448-98151664)x1 |
copy number loss |
not provided [RCV004819372] |
Chr11:81041448..98151664 [GRCh37] Chr11:11q14.1-22.1 |
pathogenic |
NM_005591.4(MRE11):c.1994+8C>G |
single nucleotide variant |
not provided [RCV004998044] |
Chr11:94435824 [GRCh38] Chr11:94168990 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.164T>C (p.Ile55Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944380] |
Chr11:94486074 [GRCh38] Chr11:94219240 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1503A>G (p.Val501=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944385] |
Chr11:94456336 [GRCh38] Chr11:94189502 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.247T>A (p.Cys83Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944390] |
Chr11:94485991 [GRCh38] Chr11:94219157 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1958A>G (p.Glu653Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944391] |
Chr11:94435868 [GRCh38] Chr11:94169034 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1727G>T (p.Arg576Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944398] |
Chr11:94447275 [GRCh38] Chr11:94180441 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2117A>C (p.Asn706Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944401] |
Chr11:94420135 [GRCh38] Chr11:94153301 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1748A>C (p.Asn583Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944409] |
Chr11:94447254 [GRCh38] Chr11:94180420 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1677T>G (p.Asp559Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944413] |
Chr11:94447325 [GRCh38] Chr11:94180491 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1865A>C (p.Asp622Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944416] |
Chr11:94445812 [GRCh38] Chr11:94178978 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1691C>G (p.Ala564Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944423] |
Chr11:94447311 [GRCh38] Chr11:94180477 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1142T>C (p.Phe381Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944429] |
Chr11:94464196 [GRCh38] Chr11:94197362 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.865A>G (p.Ile289Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944430] |
Chr11:94470623 [GRCh38] Chr11:94203789 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.694C>A (p.Gln232Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944434] |
Chr11:94471725 [GRCh38] Chr11:94204891 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1254C>T (p.Ile418=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944437] |
Chr11:94461008 [GRCh38] Chr11:94194174 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1837T>G (p.Ser613Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944438] |
Chr11:94445840 [GRCh38] Chr11:94179006 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.14A>G (p.Asp5Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944439] |
Chr11:94492788 [GRCh38] Chr11:94225954 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.190G>C (p.Glu64Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944440] |
Chr11:94486048 [GRCh38] Chr11:94219214 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1075G>C (p.Glu359Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944443] |
Chr11:94467836 [GRCh38] Chr11:94201002 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1470T>G (p.Ile490Met) |
single nucleotide variant |
not provided [RCV004998042] |
Chr11:94459438 [GRCh38] Chr11:94192604 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.295G>A (p.Val99Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944389] |
Chr11:94485943 [GRCh38] Chr11:94219109 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1758G>T (p.Ser586=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944397] |
Chr11:94447244 [GRCh38] Chr11:94180410 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.489C>A (p.Asp163Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944426] |
Chr11:94478790 [GRCh38] Chr11:94211956 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1835T>C (p.Val612Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944428] |
Chr11:94445842 [GRCh38] Chr11:94179008 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1521C>T (p.Thr507=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944431] |
Chr11:94456318 [GRCh38] Chr11:94189484 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1179A>C (p.Lys393Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944433] |
Chr11:94464159 [GRCh38] Chr11:94197325 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1261C>A (p.Pro421Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944442] |
Chr11:94461001 [GRCh38] Chr11:94194167 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1883G>T (p.Arg628Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944444] |
Chr11:94437220 [GRCh38] Chr11:94170386 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.154G>A (p.Val52Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944445] |
Chr11:94486084 [GRCh38] Chr11:94219250 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.577T>A (p.Phe193Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944384] |
Chr11:94476371 [GRCh38] Chr11:94209537 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1584A>G (p.Ala528=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944394] |
Chr11:94447418 [GRCh38] Chr11:94180584 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1462C>A (p.Arg488Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944396] |
Chr11:94459446 [GRCh38] Chr11:94192612 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.510A>G (p.Gln170=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005107535]|Hereditary cancer-predisposing syndrome [RCV004944410] |
Chr11:94478769 [GRCh38] Chr11:94211935 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1546G>T (p.Asp516Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944425] |
Chr11:94456293 [GRCh38] Chr11:94189459 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.168G>C (p.Leu56Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944427] |
Chr11:94486070 [GRCh38] Chr11:94219236 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1501-2A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005004751] |
Chr11:94456340 [GRCh38] Chr11:94189506 [GRCh37] Chr11:11q21 |
likely pathogenic |
NM_005591.4(MRE11):c.1384G>A (p.Val462Met) |
single nucleotide variant |
not provided [RCV004998041] |
Chr11:94459524 [GRCh38] Chr11:94192690 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.268C>A (p.Gln90Lys) |
single nucleotide variant |
not provided [RCV004998045] |
Chr11:94485970 [GRCh38] Chr11:94219136 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1787A>G (p.Asp596Gly) |
single nucleotide variant |
not provided [RCV004998043] |
Chr11:94445890 [GRCh38] Chr11:94179056 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1667A>T (p.Asn556Ile) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder 1 [RCV005006745] |
Chr11:94447335 [GRCh38] Chr11:94180501 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1952T>C (p.Val651Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944381] |
Chr11:94435874 [GRCh38] Chr11:94169040 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.550A>G (p.Ile184Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944382] |
Chr11:94476398 [GRCh38] Chr11:94209564 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1759A>G (p.Arg587Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944388] |
Chr11:94447243 [GRCh38] Chr11:94180409 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1538A>T (p.Asn513Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944400] |
Chr11:94456301 [GRCh38] Chr11:94189467 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1083T>G (p.Pro361=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944406] |
Chr11:94467828 [GRCh38] Chr11:94200994 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.254G>T (p.Gly85Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944408] |
Chr11:94485984 [GRCh38] Chr11:94219150 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1428C>T (p.Tyr476=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944411] |
Chr11:94459480 [GRCh38] Chr11:94192646 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.451A>G (p.Asn151Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944417] |
Chr11:94478828 [GRCh38] Chr11:94211994 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1050A>G (p.Glu350=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944419] |
Chr11:94467861 [GRCh38] Chr11:94201027 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.934A>T (p.Ile312Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944436] |
Chr11:94470554 [GRCh38] Chr11:94203720 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.2017A>C (p.Lys673Gln) |
single nucleotide variant |
not provided [RCV005000917] |
Chr11:94429964 [GRCh38] Chr11:94163130 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.785A>G (p.Tyr262Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944387] |
Chr11:94471634 [GRCh38] Chr11:94204800 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.267C>T (p.Val89=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944395] |
Chr11:94485971 [GRCh38] Chr11:94219137 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.550A>C (p.Ile184Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944399] |
Chr11:94476398 [GRCh38] Chr11:94209564 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1603G>C (p.Glu535Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944402] |
Chr11:94447399 [GRCh38] Chr11:94180565 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1470T>A (p.Ile490=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944403] |
Chr11:94459438 [GRCh38] Chr11:94192604 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1769C>G (p.Ser590Cys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944405] |
Chr11:94447233 [GRCh38] Chr11:94180399 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.217C>G (p.His73Asp) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944407] |
Chr11:94486021 [GRCh38] Chr11:94219187 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.11C>T (p.Ala4Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944412] |
Chr11:94492791 [GRCh38] Chr11:94225957 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1327-3C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944414] |
Chr11:94459584 [GRCh38] Chr11:94192750 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1114G>A (p.Gly372Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944418] |
Chr11:94464224 [GRCh38] Chr11:94197390 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.12A>G (p.Ala4=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944420] |
Chr11:94492790 [GRCh38] Chr11:94225956 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.40A>G (p.Lys14Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944421] |
Chr11:94490946 [GRCh38] Chr11:94224112 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.112G>A (p.Val38Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944422] |
Chr11:94490874 [GRCh38] Chr11:94224040 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1890G>T (p.Gln630His) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944424] |
Chr11:94437213 [GRCh38] Chr11:94170379 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.236T>C (p.Leu79Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944432] |
Chr11:94486002 [GRCh38] Chr11:94219168 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1034A>C (p.Glu345Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944435] |
Chr11:94467877 [GRCh38] Chr11:94201043 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.143A>G (p.Gln48Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944383] |
Chr11:94490843 [GRCh38] Chr11:94224009 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1790C>G (p.Thr597Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944386] |
Chr11:94445887 [GRCh38] Chr11:94179053 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1530A>G (p.Lys510=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944392] |
Chr11:94456309 [GRCh38] Chr11:94189475 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.482A>C (p.Lys161Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944393] |
Chr11:94478797 [GRCh38] Chr11:94211963 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1207G>T (p.Glu403Ter) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944404] |
Chr11:94464131 [GRCh38] Chr11:94197297 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1402G>A (p.Asp468Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944415] |
Chr11:94459506 [GRCh38] Chr11:94192672 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.428T>A (p.Ile143Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004944441] |
Chr11:94478851 [GRCh38] Chr11:94212017 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1018-17T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005197043] |
Chr11:94467910 [GRCh38] Chr11:94201076 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.72A>T (p.Gly24=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005173890] |
Chr11:94490914 [GRCh38] Chr11:94224080 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1099-9T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005145095] |
Chr11:94464248 [GRCh38] Chr11:94197414 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.20+16C>T |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005085246] |
Chr11:94492766 [GRCh38] Chr11:94225932 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1225+19_1225+20delinsCT |
indel |
Ataxia-telangiectasia-like disorder [RCV005181969] |
Chr11:94464093..94464094 [GRCh38] Chr11:94197259..94197260 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.659+17A>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005122440] |
Chr11:94476272 [GRCh38] Chr11:94209438 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.2070+17G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005190191] |
Chr11:94429894 [GRCh38] Chr11:94163060 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1500+20G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005206652] |
Chr11:94459388 [GRCh38] Chr11:94192554 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.402+16T>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005122582] |
Chr11:94479658 [GRCh38] Chr11:94212824 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1327-5T>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005164481] |
Chr11:94459586 [GRCh38] Chr11:94192752 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.20+12A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005120433] |
Chr11:94492770 [GRCh38] Chr11:94225936 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.468A>G (p.Ser156=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005139741] |
Chr11:94478811 [GRCh38] Chr11:94211977 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.834A>G (p.Glu278=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005120338] |
Chr11:94471585 [GRCh38] Chr11:94204751 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.297C>G (p.Val99=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005117510] |
Chr11:94485941 [GRCh38] Chr11:94219107 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1784-17G>C |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005077563] |
Chr11:94445910 [GRCh38] Chr11:94179076 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.800dup (p.Ser268fs) |
duplication |
Ataxia-telangiectasia-like disorder [RCV005141327] |
Chr11:94471618..94471619 [GRCh38] Chr11:94204784..94204785 [GRCh37] Chr11:11q21 |
pathogenic |
NM_005591.4(MRE11):c.1018-12A>G |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005176356] |
Chr11:94467905 [GRCh38] Chr11:94201071 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1994+5G>A |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005148329] |
Chr11:94435827 [GRCh38] Chr11:94168993 [GRCh37] Chr11:11q21 |
uncertain significance |
NM_005591.4(MRE11):c.1248A>G (p.Lys416=) |
single nucleotide variant |
Ataxia-telangiectasia-like disorder [RCV005151918] |
Chr11:94461014 [GRCh38] Chr11:94194180 [GRCh37] Chr11:11q21 |
likely benign |
NM_005591.4(MRE11):c.1097_1098delinsCT (p.Arg366Pro) |
indel |
Ataxia-telangiectasia-like disorder [RCV005113138] |
Chr11:94467813..94467814 [GRCh38] Chr11:94200979..94200980 [GRCh37] Chr11:11q21 |
uncertain significance |