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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150430222CV1000004deletionNC_000005.9:g.172252136_172274628delArthrogryposis multiplex congenita [RCV001615153]pathogenicHuman2alternate_id
8641036CV100020single nucleotide variantNM_003282.4(TNNI2):c.60T>C (p.Ser20=)Arthrogryposis multiplex congenita [RCV000361293]|Distal arthrogryposis type 2B1 [RCV000610105]|not provided [RCV000128669]|not specified [RCV000080081]benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided1118405301840530Human3alternate_id
8641040CV100024duplicationNM_003289.4(TPM2):c.773-3dupArthrogryposis multiplex congenita [RCV000363665]|Arthrogryposis, distal, type 1A [RCV000988183]|Nemaline Myopathy, Dominant [RCV000276094]|not provided [RCV000128692]|not specified [RCV000080087]benign|likely benign|not provided93568324335683244Human4alternate_id
8691372CV141332single nucleotide variantNM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)Arthrogryposis, distal, with impaired proprioception and touch [RCV003147342]|Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [RCV000224805]|Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome [RCV003224865]|Fetal akinesia deformation sequence 1 [RCV000855pathogenic181067172910671729Human7alternate_id
8555934CV16070single nucleotide variantNM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)Fetal akinesia deformation sequence 1 [RCV000855501]|Intellectual disability, autosomal dominant 29 [RCV001007919]|SETBP1-related disorder [RCV004532268]|Schinzel-Giedion syndrome [RCV000001086]|not provided [RCV000255245]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity184495195244951952Human5alternate_id
153304791CV1690758single nucleotide variantNM_002470.4(MYH3):c.5555C>T (p.Thr1852Met)Arthrogryposis multiplex congenita [RCV002269802]|not provided [RCV003560907]likely benign|uncertain significance171063009910630099Human2alternate_id
9683771CV169569single nucleotide variantNM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)Central core myopathy [RCV001004921]|Fetal akinesia deformation sequence 1 [RCV000855485]|Malignant hyperthermia, susceptibility to, 1 [RCV003998165]|RYR1-related disorder [RCV001036190]|not provided [RCV000147451]pathogenic|conflicting interpretations of pathogenicity|uncertain significance193851611138516111Human7alternate_id
9686720CV171233single nucleotide variantNM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)Congenital multicore myopathy with external ophthalmoplegia [RCV005406848]|Congenital myopathy [RCV000148819]|Congenital myopathy with fiber type disproportion [RCV001198313]|Fetal akinesia deformation sequence 1 [RCV000855482]|King Denborough syndrome [RCV004767091]|Malignant hyperthermia, susceptipathogenic|likely pathogenic|uncertain significance193847782138477821Human13alternate_id
8556845CV17524single nucleotide variantNM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)Charcot-Marie-Tooth disease [RCV001172848]|Charcot-Marie-Tooth disease type 4 [RCV001079620]|Charcot-Marie-Tooth disease type 4C [RCV000002590]|Hemihypertrophy [RCV000415264]|Inborn genetic diseases [RCV002345223]|Susceptibility to mononeuropathy of the median nerve, mild [RCV000002591]|Tip-toe gaitpathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records5149042718149042718Human15alternate_id
10046878CV189212single nucleotide variantNM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)Cardiac arrhythmia [RCV001842522]|Fetal akinesia deformation sequence 1 [RCV000855502]|not provided [RCV000171697]likely pathogenic|uncertain significance33855115938551159Human5alternate_id
10046848CV190135single nucleotide variantNM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)Arthrogryposis multiplex congenita [RCV000172977]|Lethal congenital contracture syndrome 9 [RCV000186598]pathogenic|conflicting interpretations of pathogenicity6142309560142309560Human3alternate_id
10046849CV190136duplicationNM_198569.3(ADGRG6):c.2144dup (p.Gln716fs)Arthrogryposis multiplex congenita [RCV000172978]|Lethal congenital contracture syndrome 9 [RCV000186599]pathogenic6142405702142405703Human3alternate_id
10046850CV190137single nucleotide variantNM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)Arthrogryposis multiplex congenita [RCV000172979]|Lethal congenital contracture syndrome 9 [RCV000186600]pathogenic|likely pathogenic6142408187142408187Human3alternate_id
11546459CV254100single nucleotide variantNM_006757.4(TNNT3):c.367-9T>CArthrogryposis multiplex congenita [RCV000331506]|Distal arthrogryposis type 2B1 [RCV000388403]|not provided [RCV001576992]|not specified [RCV000246488]benign|likely benign1119343231934323Human3alternate_id
11550394CV254103single nucleotide variantNM_006757.4(TNNT3):c.723-15G>CArthrogryposis multiplex congenita [RCV000321824]|Arthrogryposis multiplex congenita distal [RCV000264326]|not provided [RCV002058213]|not specified [RCV000251702]benign|likely benign1119384231938423Human3alternate_id
11543684CV254104single nucleotide variantNM_006757.4(TNNT3):c.*36C>TArthrogryposis multiplex congenita [RCV000338606]|Distal arthrogryposis type 2B1 [RCV000281179]|not provided [RCV001651196]|not specified [RCV000242788]benign|likely benign1119385281938528Human3alternate_id
11547404CV256045duplicationNM_002470.4(MYH3):c.5457+9dupArthrogryposis multiplex congenita [RCV000262470]|Arthrogryposis, distal, type 2B3 [RCV001775726]|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [RCV001775725]|Contractures, pterygia, and variable skeletal fusions syndrome 1B [RCV001775727]|Freeman-Sheldon syndrome [RCV000375831]benign|likely benign171063027810630279Human6alternate_id
11643504CV263934single nucleotide variantNM_001365951.3(KIF1B):c.2115+6205C>THemihypertrophy [RCV000415405]|not provided [RCV000395220]uncertain significance11030345110303451Human3alternate_id
11632886CV263959single nucleotide variantNM_018136.5(ASPM):c.3082+1G>CFetal akinesia deformation sequence 1 [RCV000855492]|Microcephaly 5, primary, autosomal recessive [RCV002503977]|not provided [RCV000294377]pathogenic|likely pathogenic1197125045197125045Human4alternate_id
11577698CV271555single nucleotide variantNM_003282.4(TNNI2):c.54G>C (p.Leu18=)Arthrogryposis multiplex congenita [RCV000265562]|Arthrogryposis multiplex congenita distal [RCV000364828]|not provided [RCV001705427]|not specified [RCV000307894]benign|likely benign|uncertain significance1118404411840441Human3alternate_id
11650619CV312682insertionNM_003289.4(TPM2):c.773-4_773-3insAArthrogryposis multiplex congenita [RCV000318354]|Arthrogryposis, distal, type 1A [RCV000535500]|Nemaline Myopathy, Dominant [RCV000293794]|not specified [RCV000481078]benign|likely benign93568324435683245Human4alternate_id
11601399CV313489single nucleotide variantNM_003282.4(TNNI2):c.149C>T (p.Pro50Leu)Arthrogryposis multiplex congenita [RCV000282121]|Arthrogryposis multiplex congenita distal [RCV000371974]uncertain significance1118406191840619Human3alternate_id
11602227CV313519single nucleotide variantNM_003282.4(TNNI2):c.276+15C>TArthrogryposis multiplex congenita [RCV000392126]|Arthrogryposis multiplex congenita distal [RCV000288998]uncertain significance1118409231840923Human3alternate_id
11598932CV313520single nucleotide variantNM_003282.4(TNNI2):c.*94C>TArthrogryposis multiplex congenita [RCV000261204]|Distal arthrogryposis type 2B1 [RCV000360384]|not provided [RCV004705214]benign|likely benign1118416451841645Human3alternate_id
11604102CV313534single nucleotide variantNM_006757.4(TNNT3):c.68-14C>TArthrogryposis multiplex congenita [RCV000353956]|Arthrogryposis multiplex congenita distal [RCV000306102]|not provided [RCV002056186]benign|uncertain significance1119266811926681Human3alternate_id
11600512CV313535single nucleotide variantNM_006757.4(TNNT3):c.107-6G>AArthrogryposis multiplex congenita [RCV000274334]|Arthrogryposis multiplex congenita distal [RCV000357414]|TNNT3-related disorder [RCV003920253]|not provided [RCV000881418]benign|uncertain significance1119298041929804Human4alternate_id
11601785CV313536single nucleotide variantNM_006757.4(TNNT3):c.480+9C>TArthrogryposis multiplex congenita [RCV000285416]|Arthrogryposis multiplex congenita distal [RCV000342706]|not provided [RCV000960162]likely benign|uncertain significance1119344541934454Human3alternate_id
11606116CV313543single nucleotide variantNM_006757.4(TNNT3):c.722+15C>TArthrogryposis multiplex congenita [RCV000384456]|Arthrogryposis multiplex congenita distal [RCV000327607]|not provided [RCV002056188]benign|uncertain significance1119370181937018Human3alternate_id
11601994CV313546single nucleotide variantNM_006757.4(TNNT3):c.759C>T (p.Val253=)Arthrogryposis multiplex congenita [RCV000379080]|Arthrogryposis multiplex congenita distal [RCV000286943]|not provided [RCV000883985]benign|uncertain significance1119384741938474Human3alternate_id
11635306CV319125duplicationNM_003289.4(TPM2):c.773-5_773-3dupArthrogryposis multiplex congenita [RCV000333376]|Arthrogryposis, distal, type 1A [RCV001513467]|Nemaline Myopathy, Dominant [RCV000385600]|TPM2-related disorder [RCV004530486]|not provided [RCV003430971]|not specified [RCV000613573]benign|likely benign|uncertain significance93568324335683244Human5alternate_id
11599600CV319683single nucleotide variantNM_003282.4(TNNI2):c.61G>A (p.Val21Met)Arthrogryposis multiplex congenita [RCV000266804]|Arthrogryposis multiplex congenita distal [RCV000317217]|Inborn genetic diseases [RCV002522192]|not provided [RCV000994540]likely benign|conflicting interpretations of pathogenicity|uncertain significance1118405311840531Human4alternate_id
11602610CV319725single nucleotide variantNM_003282.4(TNNI2):c.216C>T (p.Ile72=)Arthrogryposis multiplex congenita [RCV000352138]|Arthrogryposis multiplex congenita distal [RCV000292625]|not provided [RCV001753765]benign|uncertain significance1118408481840848Human3alternate_id
11604050CV319726single nucleotide variantNM_003282.4(TNNI2):c.*28G>AArthrogryposis multiplex congenita [RCV000305926]|Arthrogryposis multiplex congenita distal [RCV000404460]uncertain significance1118415791841579Human3alternate_id
11602323CV319733single nucleotide variantNM_006757.3(TNNT3):c.-182C>GArthrogryposis multiplex congenita [RCV000346957]|Arthrogryposis multiplex congenita distal [RCV000289620]uncertain significance1119195991919599Human3alternate_id
11658895CV319734duplicationNM_006757.3(TNNT3):c.-177dupArthrogryposis multiplex congenita [RCV000392505]|Arthrogryposis multiplex congenita distal [RCV000352685]uncertain significance1119195961919597Human3alternate_id
11602396CV319749single nucleotide variantNM_006757.4(TNNT3):c.417C>T (p.Asp139=)Arthrogryposis multiplex congenita [RCV000290644]|Arthrogryposis multiplex congenita distal [RCV000382694]|not provided [RCV002056187]likely benign|uncertain significance1119343821934382Human3alternate_id
11600029CV319750single nucleotide variantNM_006757.4(TNNT3):c.690G>A (p.Thr230=)Arthrogryposis multiplex congenita [RCV000362568]|Arthrogryposis multiplex congenita distal [RCV000270354]|not provided [RCV002520713]likely benign|uncertain significance1119369711936971Human3alternate_id
11617708CV325800single nucleotide variantNM_003282.4(TNNI2):c.-50G>AArthrogryposis multiplex congenita [RCV000403436]|Distal arthrogryposis type 2B1 [RCV000306966]uncertain significance1118390061839006Human3alternate_id
11618770CV325831single nucleotide variantNM_003282.4(TNNI2):c.159T>C (p.His53=)Arthrogryposis multiplex congenita [RCV000317931]|Arthrogryposis multiplex congenita distal [RCV000386500]uncertain significance1118406291840629Human3alternate_id
11621065CV325853single nucleotide variantNM_003282.4(TNNI2):c.387G>A (p.Ser129=)Arthrogryposis multiplex congenita [RCV000392125]|Arthrogryposis multiplex congenita distal [RCV000343871]|not provided [RCV001697740]likely benign|uncertain significance1118411411841141Human3alternate_id
11617950CV325854single nucleotide variantNM_003282.4(TNNI2):c.*27C>TArthrogryposis multiplex congenita [RCV000359377]|Arthrogryposis multiplex congenita distal [RCV000309337]uncertain significance1118415781841578Human3alternate_id
11617157CV325896single nucleotide variantNM_006757.3(TNNT3):c.-83G>AArthrogryposis multiplex congenita [RCV000301561]|Arthrogryposis multiplex congenita distal [RCV000392508]likely benign1119196981919698Human3alternate_id
11612668CV325916single nucleotide variantNM_006757.4(TNNT3):c.101C>T (p.Ala34Val)Arthrogryposis multiplex congenita [RCV000318809]|Arthrogryposis multiplex congenita distal [RCV000261308]|not provided [RCV002522193]uncertain significance1119291381929138Human3alternate_id
11621360CV325917single nucleotide variantNM_006757.4(TNNT3):c.429G>A (p.Lys143=)Arthrogryposis multiplex congenita [RCV000347825]|Arthrogryposis multiplex congenita distal [RCV000399278]|not provided [RCV000943408]benign|uncertain significance1119343941934394Human3alternate_id
11622062CV325922single nucleotide variantNM_006757.4(TNNT3):c.515G>A (p.Arg172Gln)Arthrogryposis multiplex congenita [RCV000406375]|Arthrogryposis multiplex congenita distal [RCV000355644]|Inborn genetic diseases [RCV002520712]|not provided [RCV002520711]uncertain significance1119345801934580Human4alternate_id
11621688CV325923single nucleotide variantNM_006757.4(TNNT3):c.*86C>TArthrogryposis multiplex congenita [RCV000391778]|Distal arthrogryposis type 2B1 [RCV000351478]|not provided [RCV001653493]benign|likely benign|uncertain significance1119385781938578Human3alternate_id
11614360CV326880single nucleotide variantNM_006757.4(TNNT3):c.668G>C (p.Arg223Pro)Arthrogryposis multiplex congenita [RCV000314991]|Distal arthrogryposis type 2B1 [RCV000276212]uncertain significance1119349061934906Human3alternate_id
11617695CV326881single nucleotide variantNM_006757.4(TNNT3):c.*151G>AArthrogryposis multiplex congenita [RCV000307192]|Distal arthrogryposis type 2B1 [RCV000364223]uncertain significance1119386431938643Human3alternate_id
11634671CV327191duplicationNM_002470.4(MYH3):c.5457+10dupArthrogryposis multiplex congenita [RCV000321242]|Freeman-Sheldon syndrome [RCV000265887]uncertain significance171063027610630277Human3alternate_id
11614888CV327244duplicationNM_002470.4(MYH3):c.1960-17dupArthrogryposis multiplex congenita [RCV000280921]|Freeman-Sheldon syndrome [RCV000350907]|not provided [RCV001572903]|not specified [RCV001699451]benign|likely benign|conflicting interpretations of pathogenicity171064137910641380Human3alternate_id
11619961CV337052single nucleotide variantNM_002470.4(MYH3):c.4925A>G (p.Lys1642Arg)Arthrogryposis multiplex congenita [RCV000383403]|Freeman-Sheldon syndrome [RCV000331509]|Inborn genetic diseases [RCV002521084]|not provided [RCV001850715]|not specified [RCV004800386]uncertain significance171063250710632507Human4alternate_id
11619969CV337081deletionNM_002470.4(MYH3):c.1960-8delArthrogryposis multiplex congenita [RCV000385731]|Arthrogryposis, distal, type 2B3 [RCV001778905]|Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A [RCV001778904]|Contractures, pterygia, and variable skeletal fusions syndrome 1B [RCV001778906]|Freeman-Sheldon syndrome [RCV000331324]benign|likely benign171064138010641380Human6alternate_id
407574718CV3499706single nucleotide variantNM_020654.5(SENP7):c.3088C>T (p.Arg1030Trp)Arthrogryposis multiplex congenita [RCV004720223]uncertain significance3101326008101326008Human2alternate_id
12741902CV360859single nucleotide variantNM_016955.4(SEPSECS):c.388+5G>ACongenital cerebellar hypoplasia [RCV000415364]|Pontocerebellar hypoplasia type 2D [RCV001197502]likely pathogenic42515685125156851Human9alternate_id
597861639CV3880929duplicationSingle alleleArthrogryposis multiplex congenita [RCV005229754]uncertain significanceX139164887139679311Human2alternate_id
8569029CV40530single nucleotide variantNM_006757.4(TNNT3):c.414G>A (p.Glu138=)Arthrogryposis multiplex congenita [RCV000325482]|Arthrogryposis multiplex congenita distal [RCV000296303]|not provided [RCV000024566]|not specified [RCV000118645]benign|likely benign|not provided1119343791934379Human3alternate_id
12894136CV407722deletionNM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)Inborn genetic diseases [RCV001267512]|Seizure [RCV000627061]|Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant [RCV000754663]|not provided [RCV000481650]pathogenic|likely pathogenic99271900792719009Human17alternate_id
12905760CV413635single nucleotide variantNM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)Adult polyglucosan body disease [RCV001329659]|Fetal akinesia deformation sequence 1 [RCV000855462]|Glycogen storage disease, type IV [RCV001829394]|Glycogen storage disease, type IV [RCV002528222]|not provided [RCV000487962]|not specified [RCV003330722]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance38153702181537021Human5alternate_id
13212909CV426749single nucleotide variantNM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)Arthrogryposis multiplex congenita [RCV000498485]|Centronuclear myopathy [RCV004586749]|Malignant hyperthermia of anesthesia [RCV002051859]|Malignant hyperthermia, susceptibility to, 1 [RCV004003509]|RYR1-related disorder [RCV001865575]|not provided [RCV004822078]pathogenic|likely pathogenic|likely benign|uncertain significance193846765538467655Human7alternate_id
13212916CV426750single nucleotide variantNM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)Arthrogryposis multiplex congenita [RCV000499002]pathogenic193852549638525496Human2alternate_id
13489914CV445387single nucleotide variantNM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)Fetal akinesia deformation sequence 1 [RCV000855464]|Lethal congenital contracture syndrome 11 [RCV004594071]|not provided [RCV000524042]pathogenic|likely pathogenic155140452651404526Human4alternate_id
13474891CV448523single nucleotide variantNM_012243.3(SLC35A3):c.63T>G (p.Val21=)Arthrogryposis multiplex congenita [RCV001275499]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000548469]|SLC35A3-related disorder [RCV003925696]likely benign19999361799993617Human3alternate_id
13477042CV448545single nucleotide variantNM_012243.3(SLC35A3):c.22G>A (p.Val8Ile)Arthrogryposis multiplex congenita [RCV001275497]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000549410]|not provided [RCV001637082]benign19999357699993576Human3alternate_id
13522184CV488722single nucleotide variantNM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)Fetal akinesia deformation sequence 1 [RCV000855473]|Fetal akinesia deformation sequence 1 [RCV001867917]|Fetal akinesia deformation sequence 2 [RCV003465332]|not provided [RCV000591406]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance114744807147448071Human4alternate_id
13519388CV489879single nucleotide variantNM_004560.4(ROR2):c.808A>G (p.Ile270Val)Fetal akinesia deformation sequence 1 [RCV000855499]|not provided [RCV000597894]likely pathogenic|uncertain significance99173325191733251Human3alternate_id
13531372CV511407single nucleotide variantNM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)Arthrogryposis multiplex congenita [RCV000787365]|Distal arthrogryposis type 5D [RCV001809702]|Inborn genetic diseases [RCV000623280]|not provided [RCV001756022]pathogenic|likely pathogenic|uncertain significance2232486160232486160Human4alternate_id
13809196CV556535single nucleotide variantNM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp)Arthrogryposis multiplex congenita [RCV001275502]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000687644]uncertain significance1100015367100015367Human3alternate_id
13813072CV557414single nucleotide variantNM_012243.3(SLC35A3):c.40G>A (p.Val14Ile)Arthrogryposis multiplex congenita [RCV001275498]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000689894]uncertain significance19999359499993594Human3alternate_id
13813829CV573209single nucleotide variantNM_001036.6(RYR3):c.13948G>A (p.Ala4650Thr)Arthrogryposis multiplex congenita [RCV002269302]|Epileptic encephalopathy [RCV000690431]uncertain significance153385485333854853Human4alternate_id
13836512CV587787single nucleotide variantNM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)Brachydactyly type B1 [RCV005047000]|Fetal akinesia deformation sequence 1 [RCV000855500]|Short stature [RCV001310261]|not provided [RCV000903196]|not specified [RCV000732649]likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance99172481991724819Human6alternate_id
14702973CV610419single nucleotide variantNM_001198800.3(ASCC1):c.626+1G>AFetal akinesia deformation sequence 1 [RCV000855457]|Fetal akinesia deformation sequence 1 [RCV001004046]|Spinal muscular atrophy with congenital bone fractures 2 [RCV000791458]|not provided [RCV001796204]pathogenic|likely pathogenic107216153772161537Human4alternate_id
15040556CV619849duplicationNM_002478.5(MYOD1):c.557dup (p.Arg188fs)Autosomal dominant centronuclear myopathy [RCV000855714]|Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies [RCV001253807]pathogenic111772033417720335Human4alternate_id
14693843CV620934single nucleotide variantNM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)Arthrogryposis, distal, with impaired proprioception and touch [RCV000779589]|Fetal akinesia deformation sequence 1 [RCV000855470]pathogenic181079751710797517Human4alternate_id
14689534CV621026duplicationNM_017412.4(FZD3):c.1616dup (p.Asp539fs)Congenital cerebellar hypoplasia [RCV001257989]|Corpus callosum, agenesis of [RCV000779663]likely pathogenic82855579928555800Human4alternate_id
14698629CV623668single nucleotide variantNM_004826.4(ECEL1):c.2228G>T (p.Arg743Met)Arthrogryposis multiplex congenita [RCV000787366]uncertain significance2232480399232480399Human2alternate_id
14716707CV626464single nucleotide variantNM_012243.3(SLC35A3):c.347C>T (p.Thr116Met)Arthrogryposis multiplex congenita [RCV001274671]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000811663]uncertain significance1100007038100007038Human3alternate_id
14720769CV655018single nucleotide variantNM_012243.3(SLC35A3):c.357A>G (p.Leu119=)Arthrogryposis multiplex congenita [RCV001274672]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001517598]|not provided [RCV000831370]benign1100007048100007048Human3alternate_id
15040458CV680083single nucleotide variantNM_001142782.2(MAGI3):c.2565A>T (p.Gln855His)Fetal akinesia deformation sequence 1 [RCV000855514]uncertain significance1113653954113653954Human3alternate_id
15040465CV680084single nucleotide variantNM_015378.4(VPS13D):c.518G>A (p.Gly173Asp)Fetal akinesia deformation sequence 1 [RCV000855521]|VPS13D-related disorder [RCV004731046]|not provided [RCV001858520]likely benign|uncertain significance11224929312249293Human5alternate_id
15040466CV680085single nucleotide variantNM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn)Fetal akinesia deformation sequence 1 [RCV000855522]|VPS13D-related disorder [RCV003908141]|not provided [RCV002064422]benign|likely benign|uncertain significance11227783112277831Human5alternate_id
15040445CV680086single nucleotide variantNM_005807.6(PRG4):c.3569G>A (p.Gly1190Asp)Fetal akinesia deformation sequence 1 [RCV000855497]|PRG4-related disorder [RCV003938204]likely benign|uncertain significance1186311103186311103Human5alternate_id
15040440CV680087single nucleotide variantNM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)Fetal akinesia deformation sequence 1 [RCV000855491]|Microcephaly 5, primary, autosomal recessive [RCV003453775]|not provided [RCV001816923]pathogenic1197128563197128563Human4alternate_id
15040413CV680088single nucleotide variantNM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)Actin accumulation myopathy [RCV003517274]|Fetal akinesia deformation sequence 1 [RCV000855456]pathogenic1229432063229432063Human4alternate_id
15040449CV680089single nucleotide variantNM_014795.4(ZEB2):c.444T>G (p.Phe148Leu)Fetal akinesia deformation sequence 1 [RCV000855505]uncertain significance2144404984144404984Human3alternate_id
15040462CV680090deletionNM_024532.5(SPAG16):c.1423_1426del (p.Tyr475fs)Fetal akinesia deformation sequence 1 [RCV000855518]uncertain significance2214013971214013974Human3alternate_id
15040463CV680091single nucleotide variantNM_024532.5(SPAG16):c.1896A>C (p.Ter632Cys)Fetal akinesia deformation sequence 1 [RCV000855519]uncertain significance2214410315214410315Human3alternate_id
15040415CV680092single nucleotide variantNM_000751.3(CHRND):c.452G>C (p.Cys151Ser)Fetal akinesia deformation sequence 1 [RCV000855459]likely pathogenic2232528599232528599Human3alternate_id
15040414CV680093indelNM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)Autosomal recessive multiple pterygium syndrome [RCV005021266]|Fetal akinesia deformation sequence 1 [RCV000855458]|Lethal multiple pterygium syndrome [RCV004526780]likely pathogenic2232542987232542988Humanalternate_id
15040457CV680094single nucleotide variantNM_133637.3(DQX1):c.769C>T (p.Arg257Trp)Fetal akinesia deformation sequence 1 [RCV000855513]uncertain significance27452397074523970Human3alternate_id
15040436CV680095single nucleotide variantNM_014044.7(UNC50):c.287C>G (p.Thr96Ser)Fetal akinesia deformation sequence 1 [RCV000855487]uncertain significance29861078198610781Human3alternate_id
15040460CV680096single nucleotide variantNM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)Fetal akinesia deformation sequence 1 [RCV000855516]likely pathogenic4122239608122239608Human3alternate_id
15040461CV680097single nucleotide variantNM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)Fetal akinesia deformation sequence 1 [RCV000855517]likely pathogenic4122336233122336233Human3alternate_id
15040448CV680098deletionNM_001080.3(ALDH5A1):c.814del (p.Cys272fs)Fetal akinesia deformation sequence 1 [RCV000855504]likely pathogenic62451525224515252Human3alternate_id
15040439CV680099single nucleotide variantNM_177924.5(ASAH1):c.491G>T (p.Gly164Val)Fetal akinesia deformation sequence 1 [RCV000855490]|not provided [RCV002536200]likely pathogenic|uncertain significance81806319718063197Human3alternate_id
15040438CV680100single nucleotide variantNM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)Farber lipogranulomatosis [RCV001164025]|Fetal akinesia deformation sequence 1 [RCV000855489]|not provided [RCV000983934]likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records81807557818075578Human4alternate_id
15040425CV680101single nucleotide variantNM_005055.5(RAPSN):c.794C>T (p.Ala265Val)Fetal akinesia deformation sequence 1 [RCV000855474]|Fetal akinesia deformation sequence 2 [RCV005359606]likely pathogenic|uncertain significance114744172947441729Human4alternate_id
15040450CV680102single nucleotide variantNM_006836.2(GCN1):c.3581C>A (p.Ala1194Glu)Fetal akinesia deformation sequence 1 [RCV000855506]uncertain significance12120155290120155290Human3alternate_id
15040451CV680103single nucleotide variantNM_001170738.2(IQSEC3):c.1058T>C (p.Leu353Pro)Fetal akinesia deformation sequence 1 [RCV000855507]uncertain significance12138421138421Human3alternate_id
15040452CV680104single nucleotide variantNM_001170738.2(IQSEC3):c.3546G>A (p.Val1182=)Fetal akinesia deformation sequence 1 [RCV000855508]uncertain significance12175030175030Human3alternate_id
15040446CV680105single nucleotide variantNM_153026.3(PRICKLE1):c.1682A>T (p.Tyr561Phe)Fetal akinesia deformation sequence 1 [RCV000855498]uncertain significance124246062342460623Human3alternate_id
15040447CV680106single nucleotide variantNM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)Developmental and epileptic encephalopathy, 13 [RCV001775152]|Fetal akinesia deformation sequence 1 [RCV000855503]likely pathogenic125169958251699582Human4alternate_id
15040455CV680107single nucleotide variantNM_001032283.3(TMPO):c.993G>A (p.Val331=)Fetal akinesia deformation sequence 1 [RCV000855511]uncertain significance129854636198546361Human3alternate_id
15040422CV680108single nucleotide variantNM_052867.4(NALCN):c.1783G>T (p.Val595Phe)Fetal akinesia deformation sequence 1 [RCV000855468]likely pathogenic13101176356101176356Human3alternate_id
15040421CV680109single nucleotide variantNM_052867.4(NALCN):c.950T>G (p.Phe317Cys)Fetal akinesia deformation sequence 1 [RCV000855467]likely pathogenic13101292087101292087Human3alternate_id
15040423CV680110single nucleotide variantNM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)Fetal akinesia deformation sequence 1 [RCV000855469]likely pathogenic13101395283101395283Human3alternate_id
15040464CV680111single nucleotide variantNM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)Charcot-Marie-Tooth disease axonal type 2O [RCV001366306]|Fetal akinesia deformation sequence 1 [RCV000855520]likely benign|uncertain significance14102033428102033428Human4alternate_id
15040467CV680112single nucleotide variantNM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)Charcot-Marie-Tooth disease axonal type 2O [RCV001367404]|Fetal akinesia deformation sequence 1 [RCV000855523]likely benign|uncertain significance14102043961102043961Human4alternate_id
15040437CV680113deletionNM_152328.5(ADSS1):c.741del (p.Lys248fs)Fetal akinesia deformation sequence 1 [RCV000855488]|Myopathy, distal, 5 [RCV002290480]|not provided [RCV002234891]pathogenic|likely pathogenic14104741185104741185Human4alternate_id
15040453CV680114single nucleotide variantNM_001036.6(RYR3):c.13814A>G (p.Asp4605Gly)Fetal akinesia deformation sequence 1 [RCV000855509]uncertain significance153385440333854403Human3alternate_id
15040418CV680115single nucleotide variantNM_181789.4(GLDN):c.1178G>A (p.Arg393Lys)Fetal akinesia deformation sequence 1 [RCV000855463]|Fetal akinesia deformation sequence 1 [RCV001842018]|Lethal congenital contracture syndrome 11 [RCV001530480]likely pathogenic|uncertain significance155140174351401743Human4alternate_id
15040443CV680116duplicationNM_001083614.2(EARS2):c.1277_1279dup (p.Thr426_Arg427insPro)Fetal akinesia deformation sequence 1 [RCV000855495]|not provided [RCV002536201]likely pathogenic|uncertain significance162352957423529575Human3alternate_id
15040442CV680117single nucleotide variantNM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)Fetal akinesia deformation sequence 1 [RCV000855494]|Mitochondrial disease [RCV005359607]|not provided [RCV001310323]likely pathogenic|uncertain significance162353503223535032Human4alternate_id
15040416CV680118single nucleotide variantNM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)Fetal akinesia deformation sequence 1 [RCV000855460]pathogenic174268382242683822Human3alternate_id
15040417CV680119single nucleotide variantNM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)Fetal akinesia deformation sequence 1 [RCV000855461]likely pathogenic174269078942690789Human3alternate_id
15040435CV680120single nucleotide variantNM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)Fetal akinesia deformation sequence 1 [RCV000855486]likely pathogenic176395926663959266Human3alternate_id
15040424CV680121single nucleotide variantNM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)Arthrogryposis, distal, with impaired proprioception and touch [RCV003147564]|Fetal akinesia deformation sequence 1 [RCV000855471]likely pathogenic|uncertain significance181085535910855359Human4alternate_id
15040420CV680122single nucleotide variantNM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)Fetal akinesia deformation sequence 1 [RCV000855466]likely pathogenic193512653835126538Human3alternate_id
15040419CV680123single nucleotide variantNM_139284.3(LGI4):c.504G>C (p.Trp168Cys)Fetal akinesia deformation sequence 1 [RCV000855465]|not provided [RCV004820124]likely pathogenic|uncertain significance193513151035131510Human3alternate_id
15040454CV680124deletionNM_001353803.2(ZNF875):c.1452del (p.Arg485fs)Fetal akinesia deformation sequence 1 [RCV000855510]uncertain significance193736330237363302Human3alternate_id
15040432CV680125single nucleotide variantNM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)Fetal akinesia deformation sequence 1 [RCV000855481]likely pathogenic193845754038457540Human3alternate_id
15040426CV680126single nucleotide variantNM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)Fetal akinesia deformation sequence 1 [RCV000855475]likely pathogenic193845829238458292Human3alternate_id
15040428CV680127duplicationNM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)Centronuclear myopathy [RCV004586956]|Fetal akinesia deformation sequence 1 [RCV000855477]pathogenic|likely pathogenic193846051338460514Human4alternate_id
15040430CV680128deletionNM_000540.3(RYR1):c.5618del (p.Glu1873fs)Fetal akinesia deformation sequence 1 [RCV000855479]pathogenic193848924738489247Human3alternate_id
15040434CV680129single nucleotide variantNM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)Fetal akinesia deformation sequence 1 [RCV000855484]|RYR1-related disorder [RCV003117621]|not provided [RCV002275162]likely pathogenic|uncertain significance193849999138499991Human4alternate_id
15040429CV680130single nucleotide variantNM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)Centronuclear myopathy [RCV004586957]|Fetal akinesia deformation sequence 1 [RCV000855478]likely pathogenic193850431738504317Human4alternate_id
15040431CV680131single nucleotide variantNM_000540.3(RYR1):c.10018G>A (p.Val3340Met)Fetal akinesia deformation sequence 1 [RCV000855480]|Malignant hyperthermia, susceptibility to, 1 [RCV004803279]likely pathogenic|uncertain significance193851769138517691Human4alternate_id
15040433CV680132single nucleotide variantNM_000540.3(RYR1):c.13998G>A (p.Lys4666=)Fetal akinesia deformation sequence 1 [RCV000855483]likely pathogenic193857227038572270Human3alternate_id
15040427CV680133deletionNM_000540.3(RYR1):c.14647-15_14649delFetal akinesia deformation sequence 1 [RCV000855476]pathogenic193858492238584939Human3alternate_id
15040456CV680134single nucleotide variantNM_022139.4(GFRA4):c.244G>C (p.Ala82Pro)Fetal akinesia deformation sequence 1 [RCV000855512]uncertain significance2036610923661092Human3alternate_id
15040459CV680135single nucleotide variantNM_000262.3(NAGA):c.917A>T (p.Asn306Ile)Fetal akinesia deformation sequence 1 [RCV000855515]uncertain significance224206286742062867Human3alternate_id
15040444CV680136single nucleotide variantNM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln)Fetal akinesia deformation sequence 1 [RCV000855496]|not provided [RCV005092536]uncertain significance224560032545600325Human3alternate_id
15040441CV680137single nucleotide variantNM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)Fetal akinesia deformation sequence 1 [RCV000855493]likely pathogenicX153536444153536444Human3alternate_id
15142933CV706511single nucleotide variantNM_012243.3(SLC35A3):c.543A>T (p.Thr181=)Arthrogryposis multiplex congenita [RCV001274673]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000966578]likely benign|uncertain significance1100011442100011442Human3alternate_id
15132298CV706513single nucleotide variantNM_012243.3(SLC35A3):c.933G>A (p.Leu311=)Arthrogryposis multiplex congenita [RCV001274675]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000964752]|SLC35A3-related disorder [RCV003943137]likely benign|uncertain significance1100022431100022431Human3alternate_id
15143712CV707621single nucleotide variantNM_012243.3(SLC35A3):c.6C>T (p.Phe2=)Arthrogryposis multiplex congenita [RCV001274669]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000966713]benign|uncertain significance19999356099993560Human3alternate_id
15105575CV729896single nucleotide variantNM_012243.3(SLC35A3):c.753+8A>GArthrogryposis multiplex congenita [RCV001274674]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000893107]likely benign|uncertain significance1100015428100015428Human3alternate_id
15117178CV731499single nucleotide variantNM_012243.3(SLC35A3):c.348G>A (p.Thr116=)Arthrogryposis multiplex congenita [RCV001275500]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV000895332]likely benign1100007039100007039Human3alternate_id
26907545CV822351single nucleotide variantNM_012243.3(SLC35A3):c.409G>A (p.Gly137Ser)Arthrogryposis multiplex congenita [RCV001275501]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001038012]|Inborn genetic diseases [RCV002551404]|not provided [RCV003229010]uncertain significance1100007100100007100Human4alternate_id
26902288CV824610single nucleotide variantNM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr)Arthrogryposis multiplex congenita [RCV001274670]|Autism spectrum disorder - epilepsy - arthrogryposis syndrome [RCV001071837]uncertain significance19999356599993565Human3alternate_id
40814269CV966695deletionNM_001384125.1(BLTP1):c.692del (p.Phe231fs)Clubfoot [RCV001257402]likely pathogenic4122187957122187957Human2alternate_id
40814226CV966696single nucleotide variantNM_001384125.1(BLTP1):c.3323+1G>AClubfoot [RCV001257375]likely pathogenic4122230212122230212Human2alternate_id
8654782CV30836single nucleotide variantNM_000558.5(HBA1):c.46G>C (p.Gly16Arg)HEMOGLOBIN OTTAWA [RCV000017136]|HEMOGLOBIN SIAM [RCV000017137]|not provided [RCV005229811]likely benign|other16176762176762Humantrait