NM_012199.2(AGO1):c.1021-1826G>T |
single nucleotide variant |
Lung cancer [RCV000090818] |
Chr1:35899648 [GRCh38] Chr1:36365249 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1 |
copy number loss |
See cases [RCV000137966] |
Chr1:34753938..36055310 [GRCh38] Chr1:35219539..36520911 [GRCh37] Chr1:34992126..36293498 [NCBI36] Chr1:1p34.3 |
likely pathogenic |
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 |
copy number gain |
See cases [RCV000138891] |
Chr1:24381206..41401517 [GRCh38] Chr1:24707696..41886350 [GRCh37] Chr1:24580283..41658937 [NCBI36] Chr1:1p36.11-34.2 |
pathogenic |
Single allele |
deletion |
Gestational diabetes mellitus uncontrolled [RCV000161159] |
Chr1:35902179..35922053 [GRCh38] Chr1:36367780..36387654 [GRCh37] Chr1:1p34.3 |
not provided |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
NM_012199.5(AGO1):c.2530G>C (p.Val844Leu) |
single nucleotide variant |
not provided [RCV003321241] |
Chr1:35919563 [GRCh38] Chr1:36385164 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.73C>G (p.Arg25Gly) |
single nucleotide variant |
not provided [RCV000420638] |
Chr1:35888474 [GRCh38] Chr1:36354075 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 |
copy number loss |
See cases [RCV000448022] |
Chr1:34830287..36945093 [GRCh37] Chr1:1p34.3 |
pathogenic |
GRCh37/hg19 1p34.3(chr1:35950860-36465764)x1 |
copy number loss |
See cases [RCV000448765] |
Chr1:35950860..36465764 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) |
microsatellite |
Inborn genetic diseases [RCV000624497]|Neurodevelopmental abnormality [RCV001264693]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155252]|See cases [RCV001420239]|Seizure [RCV002286416]|not provided [RCV000678336] |
Chr1:35893695..35893697 [GRCh38] Chr1:36359296..36359298 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_012199.5(AGO1):c.566C>T (p.Pro189Leu) |
single nucleotide variant |
not provided [RCV000660582] |
Chr1:35893727 [GRCh38] Chr1:36359328 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 |
copy number gain |
not provided [RCV000748949] |
Chr1:31562164..37421958 [GRCh37] Chr1:1p35.2-34.3 |
pathogenic |
NM_012199.5(AGO1):c.1599C>T (p.Val533=) |
single nucleotide variant |
not provided [RCV000978349] |
Chr1:35913858 [GRCh38] Chr1:36379459 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.1512G>T (p.Arg504=) |
single nucleotide variant |
not provided [RCV000915512] |
Chr1:35907049 [GRCh38] Chr1:36372650 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.765C>T (p.Arg255=) |
single nucleotide variant |
not provided [RCV000905702] |
Chr1:35894152 [GRCh38] Chr1:36359753 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.1698T>C (p.Asn566=) |
single nucleotide variant |
not provided [RCV000943860] |
Chr1:35913957 [GRCh38] Chr1:36379558 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.2112G>A (p.Val704=) |
single nucleotide variant |
not provided [RCV000879533] |
Chr1:35917676 [GRCh38] Chr1:36383277 [GRCh37] Chr1:1p34.3 |
likely benign |
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) |
copy number loss |
not provided [RCV000767772] |
Chr1:32859415..36454915 [GRCh37] Chr1:1p35.1-34.3 |
pathogenic |
NM_012199.5(AGO1):c.432C>G (p.Ala144=) |
single nucleotide variant |
not provided [RCV000898216] |
Chr1:35893198 [GRCh38] Chr1:36358799 [GRCh37] Chr1:1p34.3 |
benign |
NM_012199.5(AGO1):c.1173C>T (p.Tyr391=) |
single nucleotide variant |
not provided [RCV000879371] |
Chr1:35901980 [GRCh38] Chr1:36367581 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.165C>T (p.Tyr55=) |
single nucleotide variant |
not provided [RCV000970166] |
Chr1:35888566 [GRCh38] Chr1:36354167 [GRCh37] Chr1:1p34.3 |
benign |
NM_012199.5(AGO1):c.33C>T (p.Gly11=) |
single nucleotide variant |
not provided [RCV000921347] |
Chr1:35888434 [GRCh38] Chr1:36354035 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.1014C>G (p.Pro338=) |
single nucleotide variant |
not provided [RCV000903673] |
Chr1:35895263 [GRCh38] Chr1:36360864 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.183G>C (p.Pro61=) |
single nucleotide variant |
not provided [RCV000893538] |
Chr1:35888584 [GRCh38] Chr1:36354185 [GRCh37] Chr1:1p34.3 |
benign |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_012199.5(AGO1):c.2347C>T (p.Gln783Ter) |
single nucleotide variant |
not provided [RCV000993969] |
Chr1:35919136 [GRCh38] Chr1:36384737 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.784+1G>A |
single nucleotide variant |
not provided [RCV001197640] |
Chr1:35894172 [GRCh38] Chr1:36359773 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2135G>A (p.Arg712His) |
single nucleotide variant |
not provided [RCV003231698] |
Chr1:35917699 [GRCh38] Chr1:36383300 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) |
single nucleotide variant |
AGO1-related Intellectual disability [RCV001839054]|not specified [RCV001650482] |
Chr1:35919131 [GRCh38] Chr1:36384732 [GRCh37] Chr1:1p34.3 |
likely pathogenic|uncertain significance |
NM_012199.5(AGO1):c.183G>A (p.Pro61=) |
single nucleotide variant |
not provided [RCV000974593] |
Chr1:35888584 [GRCh38] Chr1:36354185 [GRCh37] Chr1:1p34.3 |
benign |
NM_012199.5(AGO1):c.1980C>T (p.Thr660=) |
single nucleotide variant |
not provided [RCV000907267] |
Chr1:35915494 [GRCh38] Chr1:36381095 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.1482G>A (p.Gln494=) |
single nucleotide variant |
not provided [RCV000931014] |
Chr1:35907019 [GRCh38] Chr1:36372620 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.1257C>T (p.Gly419=) |
single nucleotide variant |
not provided [RCV000886896] |
Chr1:35902064 [GRCh38] Chr1:36367665 [GRCh37] Chr1:1p34.3 |
benign |
NM_012199.5(AGO1):c.2088C>T (p.Tyr696=) |
single nucleotide variant |
not provided [RCV000906228] |
Chr1:35917652 [GRCh38] Chr1:36383253 [GRCh37] Chr1:1p34.3 |
benign |
NM_012199.5(AGO1):c.1923C>G (p.Ser641=) |
single nucleotide variant |
not provided [RCV000890502] |
Chr1:35915437 [GRCh38] Chr1:36381038 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.2129A>T (p.His710Leu) |
single nucleotide variant |
not provided [RCV002467056] |
Chr1:35917693 [GRCh38] Chr1:36383294 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) |
microsatellite |
AGO1-related condition [RCV003416406]|Intellectual disability [RCV001731166]|not provided [RCV003328680]|not specified [RCV001650475] |
Chr1:35901574..35901576 [GRCh38] Chr1:36367175..36367177 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_012199.5(AGO1):c.650-2A>G |
single nucleotide variant |
AGO1-associated disorder [RCV001254059]|Intellectual disability [RCV001731153] |
Chr1:35894035 [GRCh38] Chr1:36359636 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic |
NM_012199.5(AGO1):c.1663C>G (p.Pro555Ala) |
single nucleotide variant |
See cases [RCV001291698] |
Chr1:35913922 [GRCh38] Chr1:36379523 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro) |
single nucleotide variant |
Neurodevelopmental abnormality [RCV001264711]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155383]|not provided [RCV003321817] |
Chr1:35893730 [GRCh38] Chr1:36359331 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic |
NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] |
Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1 |
uncertain significance |
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg) |
single nucleotide variant |
not provided [RCV001281588] |
Chr1:35901526 [GRCh38] Chr1:36367127 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic |
NM_012199.5(AGO1):c.758G>A (p.Arg253His) |
single nucleotide variant |
Intellectual disability [RCV001730187]|not provided [RCV001773777] |
Chr1:35894145 [GRCh38] Chr1:36359746 [GRCh37] Chr1:1p34.3 |
likely pathogenic|uncertain significance |
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys) |
single nucleotide variant |
Intellectual disability [RCV001837037]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155422]|not provided [RCV003328681] |
Chr1:35893744 [GRCh38] Chr1:36359345 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic |
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) |
single nucleotide variant |
AGO1-related neurodevelopmental disorder [RCV003147642]|Intellectual disability [RCV001730186]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155424]|not provided [RCV001821970] |
Chr1:35893756 [GRCh38] Chr1:36359357 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic |
NM_012199.5(AGO1):c.1802C>T (p.Ala601Val) |
single nucleotide variant |
not specified [RCV002246948] |
Chr1:35914243 [GRCh38] Chr1:36379844 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.760G>A (p.Val254Ile) |
single nucleotide variant |
Intellectual disability [RCV001731182]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155425]|not provided [RCV001786517] |
Chr1:35894147 [GRCh38] Chr1:36359748 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg) |
single nucleotide variant |
Intellectual disability [RCV001730185]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155423] |
Chr1:35893730 [GRCh38] Chr1:36359331 [GRCh37] Chr1:1p34.3 |
pathogenic|likely pathogenic |
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe) |
single nucleotide variant |
Intellectual disability [RCV001731184] |
Chr1:35919178 [GRCh38] Chr1:36384779 [GRCh37] Chr1:1p34.3 |
likely pathogenic |
NM_012199.5(AGO1):c.25+7G>A |
single nucleotide variant |
not specified [RCV002246907] |
Chr1:35883453 [GRCh38] Chr1:36349054 [GRCh37] Chr1:1p34.3 |
benign |
NM_012199.5(AGO1):c.1217T>C (p.Val406Ala) |
single nucleotide variant |
Neurodevelopmental disorder [RCV002272870] |
Chr1:35902024 [GRCh38] Chr1:36367625 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.591G>T (p.Trp197Cys) |
single nucleotide variant |
not provided [RCV001772482] |
Chr1:35893752 [GRCh38] Chr1:36359353 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.907G>A (p.Glu303Lys) |
single nucleotide variant |
not provided [RCV001765764] |
Chr1:35895156 [GRCh38] Chr1:36360757 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1111C>T (p.Pro371Ser) |
single nucleotide variant |
not provided [RCV001773824] |
Chr1:35901564 [GRCh38] Chr1:36367165 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2081del (p.Lys694fs) |
deletion |
not provided [RCV001771003] |
Chr1:35917642 [GRCh38] Chr1:36383243 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1436C>T (p.Ala479Val) |
single nucleotide variant |
not provided [RCV001771449] |
Chr1:35906973 [GRCh38] Chr1:36372574 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1160A>T (p.Asn387Ile) |
single nucleotide variant |
not provided [RCV001758597] |
Chr1:35901967 [GRCh38] Chr1:36367568 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2252A>T (p.His751Leu) |
single nucleotide variant |
Intellectual disability [RCV001731183] |
Chr1:35918410 [GRCh38] Chr1:36384011 [GRCh37] Chr1:1p34.3 |
likely pathogenic |
NM_012199.5(AGO1):c.2368del (p.Arg790fs) |
deletion |
not provided [RCV001757002] |
Chr1:35919157 [GRCh38] Chr1:36384758 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) |
copy number gain |
not specified [RCV002052781] |
Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33 |
pathogenic |
GRCh37/hg19 1p34.3(chr1:36041366-39112237) |
copy number loss |
not specified [RCV002053236] |
Chr1:36041366..39112237 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p34.3(chr1:35950860-36635695) |
copy number gain |
not specified [RCV002053225] |
Chr1:35950860..36635695 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p34.3(chr1:35950860-36465764) |
copy number loss |
not specified [RCV002053205] |
Chr1:35950860..36465764 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1354G>A (p.Ala452Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003275815] |
Chr1:35902294 [GRCh38] Chr1:36367895 [GRCh37] Chr1:1p34.3 |
likely pathogenic |
NM_012199.5(AGO1):c.1406C>G (p.Thr469Arg) |
single nucleotide variant |
not provided [RCV003237064] |
Chr1:35906943 [GRCh38] Chr1:36372544 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2122C>T (p.Arg708Cys) |
single nucleotide variant |
not provided [RCV002260831] |
Chr1:35917686 [GRCh38] Chr1:36383287 [GRCh37] Chr1:1p34.3 |
uncertain significance |
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1 |
copy number loss |
not provided [RCV002474552] |
Chr1:35104233..37357913 [GRCh37] Chr1:1p34.3 |
pathogenic |
NM_012199.5(AGO1):c.521C>T (p.Pro174Leu) |
single nucleotide variant |
not provided [RCV003235892] |
Chr1:35893682 [GRCh38] Chr1:36359283 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.595G>T (p.Gly199Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002356036] |
Chr1:35893756 [GRCh38] Chr1:36359357 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.*10G>A |
single nucleotide variant |
not provided [RCV002508443] |
Chr1:35919617 [GRCh38] Chr1:36385218 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.853C>T (p.Arg285Cys) |
single nucleotide variant |
not provided [RCV002608188] |
Chr1:35894383 [GRCh38] Chr1:36359984 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.442G>A (p.Gly148Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003200768] |
Chr1:35893208 [GRCh38] Chr1:36358809 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1243A>G (p.Ile415Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003180368] |
Chr1:35902050 [GRCh38] Chr1:36367651 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.739C>A (p.Pro247Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003221149] |
Chr1:35894126 [GRCh38] Chr1:36359727 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2042A>T (p.Glu681Val) |
single nucleotide variant |
not provided [RCV003219039] |
Chr1:35917606 [GRCh38] Chr1:36383207 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.644T>C (p.Ile215Thr) |
single nucleotide variant |
not provided [RCV003321421] |
Chr1:35893805 [GRCh38] Chr1:36359406 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.913A>G (p.Thr305Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003262471] |
Chr1:35895162 [GRCh38] Chr1:36360763 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.513-1G>A |
single nucleotide variant |
not provided [RCV003328902] |
Chr1:35893673 [GRCh38] Chr1:36359274 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.*10686T>C |
single nucleotide variant |
not provided [RCV003387618] |
Chr1:35930293 [GRCh38] Chr1:36395894 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1376A>G (p.Gln459Arg) |
single nucleotide variant |
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003330374] |
Chr1:35902316 [GRCh38] Chr1:36367917 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1637A>G (p.Gln546Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003344293] |
Chr1:35913896 [GRCh38] Chr1:36379497 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1574C>T (p.Pro525Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003354882] |
Chr1:35907111 [GRCh38] Chr1:36372712 [GRCh37] Chr1:1p34.3 |
uncertain significance |
Single allele |
inversion |
Bilateral polymicrogyria [RCV003459046] |
Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3 |
likely pathogenic |
NM_012199.5(AGO1):c.1136G>A (p.Arg379His) |
single nucleotide variant |
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003448639] |
Chr1:35901589 [GRCh38] Chr1:36367190 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.77G>A (p.Arg26Gln) |
single nucleotide variant |
AGO1-related condition [RCV003405884] |
Chr1:35888478 [GRCh38] Chr1:36354079 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.496C>T (p.His166Tyr) |
single nucleotide variant |
AGO1-related condition [RCV003405806] |
Chr1:35893262 [GRCh38] Chr1:36358863 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.1135C>T (p.Arg379Cys) |
single nucleotide variant |
not provided [RCV003443549] |
Chr1:35901588 [GRCh38] Chr1:36367189 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2132C>T (p.Thr711Ile) |
single nucleotide variant |
not provided [RCV003443431] |
Chr1:35917696 [GRCh38] Chr1:36383297 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2163+5G>A |
single nucleotide variant |
not provided [RCV003442680] |
Chr1:35917732 [GRCh38] Chr1:36383333 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.2246G>A (p.Cys749Tyr) |
single nucleotide variant |
AGO1-related condition [RCV003392993] |
Chr1:35918404 [GRCh38] Chr1:36384005 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.614G>T (p.Arg205Leu) |
single nucleotide variant |
not specified [RCV003388363] |
Chr1:35893775 [GRCh38] Chr1:36359376 [GRCh37] Chr1:1p34.3 |
uncertain significance |
NM_012199.5(AGO1):c.747G>A (p.Thr249=) |
single nucleotide variant |
not provided [RCV003406335] |
Chr1:35894134 [GRCh38] Chr1:36359735 [GRCh37] Chr1:1p34.3 |
likely benign |
NM_012199.5(AGO1):c.1209G>A (p.Met403Ile) |
single nucleotide variant |
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003764494] |
Chr1:35902016 [GRCh38] Chr1:36367617 [GRCh37] Chr1:1p34.3 |
uncertain significance |