Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


244 records found for search term Naf1
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151356378CV1329142single nucleotide variantNM_138386.3(NAF1):c.*10C>Tnot specified [RCV001822731]uncertain significance4163128887163128887Humanname
151353869CV1327421single nucleotide variantNM_138386.3(NAF1):c.878+7A>Gnot provided [RCV002541990]|not specified [RCV001817365]likely benign|uncertain significance4163140216163140216Humanname
151354121CV1327673single nucleotide variantNM_138386.3(NAF1):c.879-7C>Gnot provided [RCV002542009]|not specified [RCV001817617]benign|likely benign4163137257163137257Humanname
156044014CV1688357single nucleotide variantNM_138386.3(NAF1):c.634+1G>TPulmonary fibrosis [RCV002509799]likely risk allele4163148340163148340Human2name
156373500CV1874869single nucleotide variantNM_138386.3(NAF1):c.365+9C>Tnot provided [RCV003066501]likely benign4163166354163166354Humanname
156148343CV1964046single nucleotide variantNM_138386.3(NAF1):c.366-6C>Tnot provided [RCV002572816]likely benign4163164397163164397Humanname
405213356CV2918344single nucleotide variantNM_138386.3(NAF1):c.718-2A>Gnot provided [RCV003567445]uncertain significance4163140385163140385Humanname
405112127CV2938830single nucleotide variantNM_138386.3(NAF1):c.635-8T>Cnot provided [RCV003666402]likely benign4163145872163145872Humanname
597830358CV3735373single nucleotide variantNM_138386.3(NAF1):c.718-7A>GPulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV005055290]uncertain significance4163140390163140390Human1name
151354400CV1329533single nucleotide variantNM_138386.3(NAF1):c.1033+1G>Tnot provided [RCV001817896]likely pathogenic4163133153163133153Humanname
156382959CV1961000single nucleotide variantNM_138386.3(NAF1):c.540+18T>Cnot provided [RCV002583300]likely benign4163164199163164199Humanname
156138281CV1963028single nucleotide variantNM_138386.3(NAF1):c.365+20C>Tnot provided [RCV002572476]likely benign4163166343163166343Humanname
243049517CV2416904single nucleotide variantNM_138386.3(NAF1):c.1033+1G>Anot provided [RCV003151576]likely pathogenic4163133153163133153Humanname
405117325CV3115910single nucleotide variantNM_138386.3(NAF1):c.878+14C>Tnot provided [RCV003814400]likely benign4163140209163140209Humanname
405161757CV3125067single nucleotide variantNM_138386.3(NAF1):c.878+11T>Cnot provided [RCV003818338]likely benign4163140212163140212Humanname
405137896CV3125411single nucleotide variantNM_138386.3(NAF1):c.635-14A>Gnot provided [RCV003816518]likely benign4163145878163145878Humanname
402470444CV3171148single nucleotide variantNM_138386.3(NAF1):c.365+10C>Tnot provided [RCV003874111]likely benign4163166353163166353Humanname
597947634CV3759023single nucleotide variantNM_138386.3(NAF1):c.718-19C>Gnot provided [RCV005078819]likely benign4163140402163140402Humanname
597908670CV3806372single nucleotide variantNM_138386.3(NAF1):c.879-18C>Tnot provided [RCV005153939]likely benign4163137268163137268Humanname
597921749CV3808085single nucleotide variantNM_138386.3(NAF1):c.879-20C>Tnot provided [RCV005155793]likely benign4163137270163137270Humanname
597919260CV3811625single nucleotide variantNM_138386.3(NAF1):c.931-17A>Gnot provided [RCV005155456]likely benign4163133273163133273Humanname
405249176CV2983568single nucleotide variantNM_138386.3(NAF1):c.1033+18A>Gnot provided [RCV003686130]likely benign4163133136163133136Humanname
597903803CV3856247microsatelliteNM_138386.3(NAF1):c.541-24GTTTT[2]not provided [RCV005202475]likely benign4163148444163148448Humanname
597835935CV3828326deletionNM_138386.3(NAF1):c.878+9_878+13delnot provided [RCV005171218]likely benign4163140210163140214Humanname
151353872CV1327424single nucleotide variantNM_138386.3(NAF1):c.36A>G (p.Glu12=)not provided [RCV003772293]|not specified [RCV001817368]likely benign|uncertain significance4163166692163166692Humanname
156279692CV2054866single nucleotide variantNM_138386.3(NAF1):c.96G>C (p.Pro32=)not provided [RCV002832796]likely benign4163166632163166632Humanname
156317637CV2204023single nucleotide variantNM_138386.3(NAF1):c.7G>A (p.Val3Ile)not provided [RCV005059193]|not specified [RCV004070061]uncertain significance4163166721163166721Humanname
405191792CV3070014single nucleotide variantNM_138386.3(NAF1):c.57C>A (p.Thr19=)not provided [RCV003729790]likely benign4163166671163166671Humanname
597872539CV3805344single nucleotide variantNM_138386.3(NAF1):c.57C>T (p.Thr19=)not provided [RCV005148622]likely benign4163166671163166671Humanname
597920926CV3808004single nucleotide variantNM_138386.3(NAF1):c.87T>C (p.Ala29=)not provided [RCV005155712]likely benign4163166641163166641Humanname
151354807CV1327874single nucleotide variantNM_138386.3(NAF1):c.264A>G (p.Glu88=)not specified [RCV001819349]uncertain significance4163166464163166464Humanname
152102937CV1667351single nucleotide variantNM_138386.3(NAF1):c.234C>G (p.Thr78=)not provided [RCV002214338]benign|likely benign4163166494163166494Humanname
155911799CV1980228single nucleotide variantNM_138386.3(NAF1):c.273C>T (p.Ala91=)not provided [RCV002614049]likely benign4163166455163166455Humanname
156319204CV2071256single nucleotide variantNM_138386.3(NAF1):c.23C>T (p.Ala8Val)not provided [RCV002834587]uncertain significance4163166705163166705Humanname
155922089CV2102464single nucleotide variantNM_138386.3(NAF1):c.22G>A (p.Ala8Thr)not provided [RCV002903402]likely benign4163166706163166706Humanname
156132316CV2113079single nucleotide variantNM_138386.3(NAF1):c.156C>T (p.Asp52=)not provided [RCV002928248]likely benign4163166572163166572Humanname
405235077CV3071300single nucleotide variantNM_138386.3(NAF1):c.243G>A (p.Pro81=)not provided [RCV003735741]likely benign4163166485163166485Humanname
402519608CV3126789single nucleotide variantNM_138386.3(NAF1):c.126G>A (p.Pro42=)not provided [RCV003824707]likely benign4163166602163166602Humanname
405259069CV3194492single nucleotide variantNM_138386.3(NAF1):c.199C>T (p.Leu67=)NAF1-related disorder [RCV003893889]likely benign4163166529163166529Humanname , trait , alternate_id
405259105CV3194525single nucleotide variantNM_138386.3(NAF1):c.261T>G (p.Ala87=)NAF1-related disorder [RCV003893922]likely benign4163166467163166467Humanname , trait , alternate_id
405268668CV3198979single nucleotide variantNM_138386.3(NAF1):c.291C>T (p.Thr97=)NAF1-related disorder [RCV003912091]likely benign4163166437163166437Humanname , trait , alternate_id
597916094CV3737345single nucleotide variantNM_138386.3(NAF1):c.258G>T (p.Pro86=)not provided [RCV005074134]likely benign4163166470163166470Humanname
597959350CV3752282single nucleotide variantNM_138386.3(NAF1):c.234C>T (p.Thr78=)not provided [RCV005081232]likely benign4163166494163166494Humanname
597956519CV3792438single nucleotide variantNM_138386.3(NAF1):c.237G>A (p.Pro79=)not provided [RCV005137325]likely benign4163166491163166491Humanname
597854392CV3821665single nucleotide variantNM_138386.3(NAF1):c.219C>T (p.Ala73=)not provided [RCV005174143]likely benign4163166509163166509Humanname
151355908CV1327091single nucleotide variantNM_138386.3(NAF1):c.83C>T (p.Ala28Val)not provided [RCV002541962]|not specified [RCV001822261]benign4163166645163166645Humanname
151356223CV1328987single nucleotide variantNM_138386.3(NAF1):c.405T>C (p.Ser135=)not specified [RCV001822576]uncertain significance4163164352163164352Humanname
155979450CV1882938single nucleotide variantNM_138386.3(NAF1):c.79C>A (p.Pro27Thr)not provided [RCV003075579]|not specified [RCV004071819]uncertain significance4163166649163166649Humanname
156331939CV1884514single nucleotide variantNM_138386.3(NAF1):c.426T>G (p.Ser142=)not provided [RCV003089851]likely benign4163164331163164331Humanname
156444613CV1948343single nucleotide variantNM_138386.3(NAF1):c.513T>G (p.Leu171=)not provided [RCV003115538]likely benign4163164244163164244Humanname
156223171CV1960372single nucleotide variantNM_138386.3(NAF1):c.64G>C (p.Gly22Arg)not provided [RCV002575605]uncertain significance4163166664163166664Humanname
156400261CV1981742single nucleotide variantNM_138386.3(NAF1):c.58G>C (p.Asp20His)not provided [RCV002605533]uncertain significance4163166670163166670Humanname
156223550CV2009306single nucleotide variantNM_138386.3(NAF1):c.459G>C (p.Leu153=)not provided [RCV002701097]likely benign4163164298163164298Humanname
156394376CV2015680single nucleotide variantNM_138386.3(NAF1):c.35A>G (p.Glu12Gly)not provided [RCV002725386]uncertain significance4163166693163166693Humanname
155916985CV2031879single nucleotide variantNM_138386.3(NAF1):c.735A>G (p.Gly245=)not provided [RCV002727183]likely benign4163140366163140366Humanname
156033905CV2097619single nucleotide variantNM_138386.3(NAF1):c.576G>A (p.Leu192=)not provided [RCV002885522]likely benign4163148399163148399Humanname
156309924CV2111227single nucleotide variantNM_138386.3(NAF1):c.303C>T (p.Ala101=)not provided [RCV002937105]benign4163166425163166425Humanname
156228306CV2146121single nucleotide variantNM_138386.3(NAF1):c.930G>A (p.Glu310=)not provided [RCV003025546]uncertain significance4163137199163137199Humanname
155903487CV2274888single nucleotide variantNM_138386.3(NAF1):c.35A>C (p.Glu12Ala)not provided [RCV003708705]|not specified [RCV004133075]uncertain significance4163166693163166693Humanname
401901681CV2797997single nucleotide variantNM_138386.3(NAF1):c.49A>T (p.Asn17Tyr)NAF1-related disorder [RCV003393114]uncertain significance4163166679163166679Humanname , trait , alternate_id
405197005CV2869757single nucleotide variantNM_138386.3(NAF1):c.50A>G (p.Asn17Ser)not provided [RCV003550948]|not specified [RCV004827973]uncertain significance4163166678163166678Humanname
405217771CV2872625single nucleotide variantNM_138386.3(NAF1):c.574C>T (p.Leu192=)NAF1-related disorder [RCV003939080]|not provided [RCV003553350]likely benign4163148401163148401Human1name , trait , alternate_id
402498015CV2875434single nucleotide variantNM_138386.3(NAF1):c.86C>T (p.Ala29Val)not provided [RCV003545520]uncertain significance4163166642163166642Humanname
405222961CV2890975single nucleotide variantNM_138386.3(NAF1):c.52G>A (p.Gly18Ser)not provided [RCV003554115]uncertain significance4163166676163166676Humanname
402475853CV2916826single nucleotide variantNM_138386.3(NAF1):c.744A>G (p.Ala248=)not provided [RCV003571411]likely benign4163140357163140357Humanname
405147963CV2960062single nucleotide variantNM_138386.3(NAF1):c.82G>A (p.Ala28Thr)not provided [RCV003669786]uncertain significance4163166646163166646Humanname
405232025CV2974668single nucleotide variantNM_138386.3(NAF1):c.324G>A (p.Pro108=)not provided [RCV003682419]likely benign4163166404163166404Humanname
405224527CV3058140single nucleotide variantNM_138386.3(NAF1):c.723C>T (p.Phe241=)not provided [RCV003733816]likely benign4163140378163140378Humanname
405205913CV3126690single nucleotide variantNM_138386.3(NAF1):c.579T>G (p.Pro193=)not provided [RCV003822624]likely benign4163148396163148396Humanname
405170161CV3149983single nucleotide variantNM_138386.3(NAF1):c.705A>G (p.Gln235=)not provided [RCV003841454]likely benign4163145794163145794Humanname
405261286CV3221339single nucleotide variantNM_138386.3(NAF1):c.750A>G (p.Pro250=)NAF1-related disorder [RCV003966849]likely benign4163140351163140351Humanname , trait , alternate_id
407487755CV3447884single nucleotide variantNM_138386.3(NAF1):c.98G>T (p.Gly33Val)not specified [RCV004641157]uncertain significance4163166630163166630Humanname
408366123CV3514853single nucleotide variantNM_138386.3(NAF1):c.597G>A (p.Lys199=)NAF1-related disorder [RCV004755555]likely benign4163148378163148378Humanname , trait , alternate_id
597901398CV3741351single nucleotide variantNM_138386.3(NAF1):c.80C>T (p.Pro27Leu)not provided [RCV005072322]uncertain significance4163166648163166648Humanname
597886939CV3741872single nucleotide variantNM_138386.3(NAF1):c.867A>G (p.Glu289=)not provided [RCV005070592]likely benign4163140234163140234Humanname
597862439CV3745099single nucleotide variantNM_138386.3(NAF1):c.70G>T (p.Gly24Trp)not provided [RCV005067455]uncertain significance4163166658163166658Humanname
597961695CV3756684single nucleotide variantNM_138386.3(NAF1):c.92C>T (p.Ser31Phe)not provided [RCV005081806]uncertain significance4163166636163166636Humanname
597897390CV3773909single nucleotide variantNM_138386.3(NAF1):c.28C>A (p.Gln10Lys)not provided [RCV005111630]uncertain significance4163166700163166700Humanname
597836336CV3828413single nucleotide variantNM_138386.3(NAF1):c.351T>C (p.Asp117=)not provided [RCV005171305]likely benign4163166377163166377Humanname
151355839CV1327023single nucleotide variantNM_138386.3(NAF1):c.266C>T (p.Ser89Leu)NAF1-related disorder [RCV003931352]|not provided [RCV002541953]|not specified [RCV001822192]benign|likely benign4163166462163166462Human1name , trait , alternate_id
151354100CV1327652single nucleotide variantNM_138386.3(NAF1):c.241C>G (p.Pro81Ala)not specified [RCV001817596]uncertain significance4163166487163166487Humanname
151355986CV1328750single nucleotide variantNM_138386.3(NAF1):c.295C>A (p.Pro99Thr)not specified [RCV001822339]uncertain significance4163166433163166433Humanname
156416505CV1901359single nucleotide variantNM_138386.3(NAF1):c.280G>A (p.Asp94Asn)not provided [RCV002610210]|not specified [RCV005377292]uncertain significance4163166448163166448Humanname
156263279CV1902831single nucleotide variantNM_138386.3(NAF1):c.1233T>A (p.Ser411=)not provided [RCV003086519]likely benign4163129149163129149Humanname
156205304CV1913130single nucleotide variantNM_138386.3(NAF1):c.269C>T (p.Pro90Leu)not provided [RCV002595860]|not specified [RCV005377301]uncertain significance4163166459163166459Humanname
156053482CV1947650single nucleotide variantNM_138386.3(NAF1):c.265T>A (p.Ser89Thr)not provided [RCV003108216]|not specified [RCV004216241]likely benign|uncertain significance4163166463163166463Humanname
155981660CV1972462single nucleotide variantNM_138386.3(NAF1):c.1356T>A (p.Ala452=)not provided [RCV002617629]likely benign4163129026163129026Humanname
156232525CV2085379single nucleotide variantNM_138386.3(NAF1):c.248C>T (p.Pro83Leu)not provided [RCV002876291]uncertain significance4163166480163166480Humanname
156253012CV2098126single nucleotide variantNM_138386.3(NAF1):c.127C>T (p.Pro43Ser)not provided [RCV002895326]benign4163166601163166601Humanname
156149362CV2154342single nucleotide variantNM_138386.3(NAF1):c.167C>T (p.Thr56Ile)not provided [RCV003022798]uncertain significance4163166561163166561Humanname
156359607CV2257821single nucleotide variantNM_138386.3(NAF1):c.152C>T (p.Pro51Leu)not specified [RCV004127874]uncertain significance4163166576163166576Humanname
155981985CV2272917single nucleotide variantNM_138386.3(NAF1):c.220G>C (p.Val74Leu)not specified [RCV004135809]uncertain significance4163166508163166508Humanname
156150213CV2394634single nucleotide variantNM_138386.3(NAF1):c.257C>T (p.Pro86Leu)not specified [RCV004240974]uncertain significance4163166471163166471Humanname
329392759CV2439164single nucleotide variantNM_138386.3(NAF1):c.208G>C (p.Val70Leu)not provided [RCV003730458]|not specified [RCV004266442]uncertain significance4163166520163166520Humanname
329847930CV2524650duplicationNM_138386.3(NAF1):c.984dup (p.Ser329fs)Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV003227582]pathogenic4163133202163133203Human1name
405215132CV2875904single nucleotide variantNM_138386.3(NAF1):c.274T>C (p.Cys92Arg)not provided [RCV003553041]|not specified [RCV004636762]uncertain significance4163166454163166454Humanname
402487487CV2941443single nucleotide variantNM_138386.3(NAF1):c.1314T>G (p.Pro438=)not provided [RCV003660220]likely benign4163129068163129068Humanname
405088071CV3044498single nucleotide variantNM_138386.3(NAF1):c.260C>T (p.Ala87Val)not provided [RCV003717617]|not specified [RCV004827988]uncertain significance4163166468163166468Humanname
405253570CV3048239single nucleotide variantNM_138386.3(NAF1):c.1419C>T (p.Pro473=)not provided [RCV003722592]likely benign4163128963163128963Humanname
405218354CV3048946single nucleotide variantNM_138386.3(NAF1):c.1320C>G (p.Pro440=)not provided [RCV003732890]likely benign4163129062163129062Humanname
405181568CV3057350single nucleotide variantNM_138386.3(NAF1):c.1089G>A (p.Glu363=)not provided [RCV003728831]likely benign4163129293163129293Humanname
405205324CV3116974single nucleotide variantNM_138386.3(NAF1):c.1434T>C (p.Pro478=)not provided [RCV003822458]likely benign4163128948163128948Humanname
405166937CV3125716single nucleotide variantNM_138386.3(NAF1):c.184G>T (p.Ala62Ser)not provided [RCV003818799]uncertain significance4163166544163166544Humanname
405069379CV3140216single nucleotide variantNM_138386.3(NAF1):c.197C>T (p.Pro66Leu)not provided [RCV003833371]uncertain significance4163166531163166531Humanname
405197156CV3146707single nucleotide variantNM_138386.3(NAF1):c.172G>A (p.Glu58Lys)not provided [RCV003844062]uncertain significance4163166556163166556Humanname
405200215CV3147195single nucleotide variantNM_138386.3(NAF1):c.232A>C (p.Thr78Pro)not provided [RCV003844355]uncertain significance4163166496163166496Humanname
405044572CV3150319single nucleotide variantNM_138386.3(NAF1):c.295C>T (p.Pro99Ser)not provided [RCV003849113]uncertain significance4163166433163166433Humanname
405230370CV3153868single nucleotide variantNM_138386.3(NAF1):c.1476T>C (p.Pro492=)not provided [RCV003848736]likely benign4163128906163128906Humanname
405258944CV3194197single nucleotide variantNM_138386.3(NAF1):c.1335A>G (p.Pro445=)NAF1-related disorder [RCV003893778]likely benign4163129047163129047Humanname , trait , alternate_id
405745730CV3331445single nucleotide variantNM_138386.3(NAF1):c.155A>G (p.Asp52Gly)not specified [RCV004466356]uncertain significance4163166573163166573Humanname
407487746CV3447882single nucleotide variantNM_138386.3(NAF1):c.236C>T (p.Pro79Leu)not specified [RCV004641155]uncertain significance4163166492163166492Humanname
407487751CV3447883single nucleotide variantNM_138386.3(NAF1):c.266C>G (p.Ser89Trp)not specified [RCV004641156]uncertain significance4163166462163166462Humanname
596922012CV3535641single nucleotide variantNM_138386.3(NAF1):c.227C>G (p.Ala76Gly)Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV004785196]uncertain significance4163166501163166501Human1name
597839740CV3737067single nucleotide variantNM_138386.3(NAF1):c.1434T>G (p.Pro478=)not provided [RCV005064547]likely benign4163128948163128948Humanname
597926672CV3748931single nucleotide variantNM_138386.3(NAF1):c.1095A>G (p.Ala365=)not provided [RCV005075387]likely benign4163129287163129287Humanname
597840969CV3752719single nucleotide variantNM_138386.3(NAF1):c.235C>G (p.Pro79Ala)not provided [RCV005086448]uncertain significance4163166493163166493Humanname
597956938CV3754740single nucleotide variantNM_138386.3(NAF1):c.208G>A (p.Val70Ile)not provided [RCV005080590]uncertain significance4163166520163166520Humanname
597957399CV3755065single nucleotide variantNM_138386.3(NAF1):c.1140C>T (p.Ala380=)not provided [RCV005080735]likely benign4163129242163129242Humanname
597901356CV3796377single nucleotide variantNM_138386.3(NAF1):c.1227T>C (p.Phe409=)not provided [RCV005152460]likely benign4163129155163129155Humanname
597959411CV3797558single nucleotide variantNM_138386.3(NAF1):c.109G>C (p.Val37Leu)not provided [RCV005138245]uncertain significance4163166619163166619Humanname
597938429CV3808245single nucleotide variantNM_138386.3(NAF1):c.179A>G (p.Lys60Arg)not provided [RCV005158433]uncertain significance4163166549163166549Humanname
597862863CV3813969single nucleotide variantNM_138386.3(NAF1):c.1002G>C (p.Arg334=)not provided [RCV005147038]likely benign4163133185163133185Humanname
597851944CV3824785single nucleotide variantNM_138386.3(NAF1):c.1011C>G (p.Leu337=)not provided [RCV005173824]likely benign4163133176163133176Humanname
597876643CV3825666single nucleotide variantNM_138386.3(NAF1):c.1053A>G (p.Val351=)not provided [RCV005177540]likely benign4163129329163129329Humanname
597871888CV3849398single nucleotide variantNM_138386.3(NAF1):c.1059G>A (p.Gln353=)not provided [RCV005197579]likely benign4163129323163129323Humanname
597868265CV3858266single nucleotide variantNM_138386.3(NAF1):c.1320C>A (p.Pro440=)not provided [RCV005197009]likely benign4163129062163129062Humanname
598129602CV3887019single nucleotide variantNM_138386.3(NAF1):c.1428A>C (p.Pro476=)not provided [RCV005245079]likely benign4163128954163128954Humanname
598204906CV3987151single nucleotide variantNM_138386.3(NAF1):c.113C>T (p.Pro38Leu)not specified [RCV005376674]uncertain significance4163166615163166615Humanname
150513807CV1210702single nucleotide variantNM_138386.3(NAF1):c.484A>G (p.Ile162Val)not provided [RCV001598743]benign4163164273163164273Humanname
151355080CV1328147single nucleotide variantNM_138386.3(NAF1):c.791G>A (p.Ser264Asn)not provided [RCV005095255]|not specified [RCV001819623]uncertain significance4163140310163140310Humanname
151355267CV1328334single nucleotide variantNM_138386.3(NAF1):c.886G>A (p.Gly296Arg)not specified [RCV001820339]uncertain significance4163137243163137243Humanname
156043953CV1688353single nucleotide variantNM_138386.3(NAF1):c.701G>C (p.Arg234Pro)Pulmonary fibrosis [RCV002509795]likely risk allele4163145798163145798Human2name
156390169CV1869778single nucleotide variantNM_138386.3(NAF1):c.357C>G (p.Asp119Glu)not provided [RCV003067932]uncertain significance4163166371163166371Humanname
156023528CV1920042single nucleotide variantNM_138386.3(NAF1):c.422C>T (p.Ser141Leu)not provided [RCV002619516]|not specified [RCV004068925]uncertain significance4163164335163164335Humanname
156125333CV1969386single nucleotide variantNM_138386.3(NAF1):c.532C>T (p.Leu178Phe)not provided [RCV002593286]uncertain significance4163164225163164225Humanname
156217244CV1995496single nucleotide variantNM_138386.3(NAF1):c.343G>A (p.Asp115Asn)NAF1-related disorder [RCV003903754]|not provided [RCV002667082]|not specified [RCV004066796]uncertain significance4163166385163166385Human1name , trait , alternate_id
155949993CV2046629single nucleotide variantNM_138386.3(NAF1):c.304G>T (p.Ala102Ser)not provided [RCV002775720]uncertain significance4163166424163166424Humanname
155936829CV2058066single nucleotide variantNM_138386.3(NAF1):c.784A>G (p.Ile262Val)not provided [RCV002815429]uncertain significance4163140317163140317Humanname
156212013CV2087263single nucleotide variantNM_138386.3(NAF1):c.653C>G (p.Thr218Ser)not provided [RCV002852863]uncertain significance4163145846163145846Humanname
155948393CV2087793single nucleotide variantNM_138386.3(NAF1):c.857T>C (p.Ile286Thr)not provided [RCV002880360]uncertain significance4163140244163140244Humanname
156340320CV2092691single nucleotide variantNM_138386.3(NAF1):c.439A>G (p.Ile147Val)not provided [RCV002900441]benign4163164318163164318Humanname
156220617CV2124345single nucleotide variantNM_138386.3(NAF1):c.966A>C (p.Glu322Asp)not provided [RCV002958127]conflicting interpretations of pathogenicity|uncertain significance4163133221163133221Humanname
156180222CV2201720single nucleotide variantNM_138386.3(NAF1):c.584A>T (p.Asp195Val)not specified [RCV004082167]uncertain significance4163148391163148391Humanname
156359388CV2257673single nucleotide variantNM_138386.3(NAF1):c.518C>T (p.Thr173Ile)not specified [RCV004127761]uncertain significance4163164239163164239Humanname
156050006CV2319349single nucleotide variantNM_138386.3(NAF1):c.601C>T (p.Leu201Phe)not specified [RCV004180173]uncertain significance4163148374163148374Humanname
243049593CV2416905single nucleotide variantNM_138386.3(NAF1):c.691A>T (p.Lys231Ter)not provided [RCV003151577]likely pathogenic4163145808163145808Humanname
401728467CV2686114single nucleotide variantNM_138386.3(NAF1):c.617G>A (p.Ser206Asn)not specified [RCV004297121]uncertain significance4163148358163148358Humanname
401881292CV2789561single nucleotide variantNM_138386.3(NAF1):c.968C>G (p.Ala323Gly)not specified [RCV004360166]uncertain significance4163133219163133219Humanname
401902378CV2801840single nucleotide variantNM_138386.3(NAF1):c.568A>G (p.Ile190Val)NAF1-related disorder [RCV003418864]|not provided [RCV003720900]uncertain significance4163148407163148407Human1name , trait , alternate_id
405177584CV2864676single nucleotide variantNM_138386.3(NAF1):c.986C>A (p.Ser329Tyr)not provided [RCV003542776]uncertain significance4163133201163133201Humanname
405064079CV2878921single nucleotide variantNM_138386.3(NAF1):c.610G>A (p.Val204Ile)not provided [RCV003548113]uncertain significance4163148365163148365Humanname
405146875CV2881573single nucleotide variantNM_138386.3(NAF1):c.373G>A (p.Asp125Asn)not provided [RCV003561430]benign4163164384163164384Humanname
402495711CV2883805single nucleotide variantNM_138386.3(NAF1):c.764G>A (p.Arg255Gln)not provided [RCV003573477]uncertain significance4163140337163140337Humanname
405222493CV2908420single nucleotide variantNM_138386.3(NAF1):c.644A>C (p.Glu215Ala)not provided [RCV003568647]uncertain significance4163145855163145855Humanname
402473551CV2919383single nucleotide variantNM_138386.3(NAF1):c.482A>G (p.Gln161Arg)not provided [RCV003571024]uncertain significance4163164275163164275Humanname
402524141CV2940282single nucleotide variantNM_138386.3(NAF1):c.344A>C (p.Asp115Ala)not provided [RCV003663423]uncertain significance4163166384163166384Humanname
402491225CV2949106single nucleotide variantNM_138386.3(NAF1):c.388A>G (p.Ser130Gly)not provided [RCV003660566]uncertain significance4163164369163164369Humanname
405187152CV2964015single nucleotide variantNM_138386.3(NAF1):c.656A>G (p.Asn219Ser)not provided [RCV003676782]uncertain significance4163145843163145843Humanname
402499651CV3035177single nucleotide variantNM_138386.3(NAF1):c.783C>A (p.His261Gln)not provided [RCV003714604]|not specified [RCV005377499]uncertain significance4163140318163140318Humanname
402506915CV3039218single nucleotide variantNM_138386.3(NAF1):c.502A>G (p.Asn168Asp)not provided [RCV003715290]uncertain significance4163164255163164255Humanname
405216961CV3055777single nucleotide variantNM_138386.3(NAF1):c.392C>T (p.Ser131Leu)not provided [RCV003732777]uncertain significance4163164365163164365Humanname
405243394CV3071853single nucleotide variantNM_138386.3(NAF1):c.311C>T (p.Pro104Leu)not provided [RCV003737789]uncertain significance4163166417163166417Humanname
405026824CV3129652single nucleotide variantNM_138386.3(NAF1):c.709G>T (p.Ala237Ser)not provided [RCV003830250]uncertain significance4163145790163145790Humanname
405177537CV3148619single nucleotide variantNM_138386.3(NAF1):c.299G>A (p.Gly100Glu)not provided [RCV003858396]uncertain significance4163166429163166429Humanname
405191650CV3157112single nucleotide variantNM_138386.3(NAF1):c.336G>C (p.Glu112Asp)not provided [RCV003859800]uncertain significance4163166392163166392Humanname
402479691CV3170599single nucleotide variantNM_138386.3(NAF1):c.304G>A (p.Ala102Thr)not provided [RCV003875801]uncertain significance4163166424163166424Humanname
402469326CV3174725single nucleotide variantNM_138386.3(NAF1):c.313G>T (p.Ala105Ser)NAF1-related disorder [RCV003893559]|not provided [RCV003873835]uncertain significance4163166415163166415Human1name , trait , alternate_id
402490731CV3182427single nucleotide variantNM_138386.3(NAF1):c.763C>T (p.Arg255Trp)not provided [RCV003876913]uncertain significance4163140338163140338Humanname
405782133CV3331459single nucleotide variantNM_138386.3(NAF1):c.310C>G (p.Pro104Ala)not provided [RCV005065126]|not specified [RCV004458847]uncertain significance4163166418163166418Humanname
405782143CV3331461single nucleotide variantNM_138386.3(NAF1):c.325G>T (p.Asp109Tyr)not provided [RCV005104737]|not specified [RCV004458849]uncertain significance4163166403163166403Humanname
407520652CV3447886single nucleotide variantNM_138386.3(NAF1):c.329C>G (p.Ser110Cys)not provided [RCV005059697]|not specified [RCV004652255]uncertain significance4163166399163166399Humanname
408365861CV3511702single nucleotide variantNM_138386.3(NAF1):c.524A>G (p.Asp175Gly)NAF1-related disorder [RCV004755366]uncertain significance4163164233163164233Humanname , trait , alternate_id
597653630CV3555544single nucleotide variantNM_138386.3(NAF1):c.587T>C (p.Ile196Thr)not specified [RCV004833975]uncertain significance4163148388163148388Humanname
597653638CV3555545single nucleotide variantNM_138386.3(NAF1):c.757G>T (p.Val253Leu)not provided [RCV005061490]|not specified [RCV004833976]uncertain significance4163140344163140344Humanname
597653644CV3555546single nucleotide variantNM_138386.3(NAF1):c.302C>T (p.Ala101Val)not specified [RCV004833977]uncertain significance4163166426163166426Humanname
597653651CV3555547single nucleotide variantNM_138386.3(NAF1):c.881A>T (p.Asp294Val)not specified [RCV004833978]uncertain significance4163137248163137248Humanname
597653660CV3555548single nucleotide variantNM_138386.3(NAF1):c.907A>G (p.Asn303Asp)not specified [RCV004833979]uncertain significance4163137222163137222Humanname
597653669CV3555549single nucleotide variantNM_138386.3(NAF1):c.649A>G (p.Met217Val)not specified [RCV004833980]uncertain significance4163145850163145850Humanname
597653685CV3555551single nucleotide variantNM_138386.3(NAF1):c.301G>A (p.Ala101Thr)not specified [RCV004833982]uncertain significance4163166427163166427Humanname
597915133CV3740690single nucleotide variantNM_138386.3(NAF1):c.454G>C (p.Val152Leu)not provided [RCV005074027]uncertain significance4163164303163164303Humanname
597881992CV3744979single nucleotide variantNM_138386.3(NAF1):c.473A>G (p.Asp158Gly)not provided [RCV005070004]uncertain significance4163164284163164284Humanname
597863223CV3745287single nucleotide variantNM_138386.3(NAF1):c.316C>T (p.Arg106Trp)not provided [RCV005067643]|not specified [RCV005379699]uncertain significance4163166412163166412Humanname
597964441CV3754358single nucleotide variantNM_138386.3(NAF1):c.361G>T (p.Asp121Tyr)not provided [RCV005082465]uncertain significance4163166367163166367Humanname
597889342CV3788086single nucleotide variantNM_138386.3(NAF1):c.764G>T (p.Arg255Leu)not provided [RCV005125444]uncertain significance4163140337163140337Humanname
597964308CV3792202single nucleotide variantNM_138386.3(NAF1):c.422C>G (p.Ser141Trp)not provided [RCV005139760]uncertain significance4163164335163164335Humanname
597868776CV3803384single nucleotide variantNM_138386.3(NAF1):c.340T>A (p.Ser114Thr)not provided [RCV005147981]uncertain significance4163166388163166388Humanname
597905565CV3803938single nucleotide variantNM_138386.3(NAF1):c.326A>C (p.Asp109Ala)not provided [RCV005153483]uncertain significance4163166402163166402Humanname
597849612CV3824458single nucleotide variantNM_138386.3(NAF1):c.404C>T (p.Ser135Phe)not provided [RCV005173497]uncertain significance4163164353163164353Humanname
597859769CV3850229single nucleotide variantNM_138386.3(NAF1):c.388A>C (p.Ser130Arg)not provided [RCV005195562]uncertain significance4163164369163164369Humanname
597886665CV3854991single nucleotide variantNM_138386.3(NAF1):c.458T>A (p.Leu153Gln)not provided [RCV005199837]uncertain significance4163164299163164299Humanname
151355961CV1327144single nucleotide variantNM_138386.3(NAF1):c.1348G>A (p.Gly450Ser)not provided [RCV002541969]|not specified [RCV001822314]benign|likely benign4163129034163129034Humanname
151354980CV1328047single nucleotide variantNM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser)NAF1-related disorder [RCV003923327]|not provided [RCV002542578]|not specified [RCV001819523]likely benign|conflicting interpretations of pathogenicity4163128904163128904Human1name , trait , alternate_id
156043872CV1688347single nucleotide variantNM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)Pulmonary fibrosis [RCV002509789]|not provided [RCV003708631]pathogenic|uncertain significance4163129259163129259Human2name
156176805CV1891797single nucleotide variantNM_138386.3(NAF1):c.1379C>G (p.Pro460Arg)not provided [RCV003083421]|not specified [RCV004071658]uncertain significance4163129003163129003Humanname
156310639CV1928386single nucleotide variantNM_138386.3(NAF1):c.1151G>A (p.Arg384Gln)not provided [RCV002648142]uncertain significance4163129231163129231Humanname
156411001CV1976020single nucleotide variantNM_138386.3(NAF1):c.1070C>G (p.Ala357Gly)not provided [RCV002587349]uncertain significance4163129312163129312Humanname
156391038CV1995501single nucleotide variantNM_138386.3(NAF1):c.1104T>G (p.Tyr368Ter)not provided [RCV002680764]uncertain significance4163129278163129278Humanname
156215853CV1997458single nucleotide variantNM_138386.3(NAF1):c.1187A>G (p.Tyr396Cys)not provided [RCV002667028]|not specified [RCV004066714]uncertain significance4163129195163129195Humanname
156394136CV2002686single nucleotide variantNM_138386.3(NAF1):c.1036G>A (p.Glu346Lys)not provided [RCV002681067]uncertain significance4163129346163129346Humanname
156097588CV2102994single nucleotide variantNM_138386.3(NAF1):c.1375C>T (p.His459Tyr)not provided [RCV002913277]|not specified [RCV004642061]uncertain significance4163129007163129007Humanname
156383602CV2128235single nucleotide variantNM_138386.3(NAF1):c.1163G>A (p.Gly388Asp)NAF1-related disorder [RCV004754908]|not provided [RCV002943328]uncertain significance4163129219163129219Human1name , trait , alternate_id
156024032CV2128780single nucleotide variantNM_138386.3(NAF1):c.1070C>T (p.Ala357Val)NAF1-related disorder [RCV004754910]|not provided [RCV002948913]uncertain significance4163129312163129312Human1name , trait , alternate_id
156350686CV2157452single nucleotide variantNM_138386.3(NAF1):c.1442C>T (p.Pro481Leu)not provided [RCV003030849]uncertain significance4163128940163128940Humanname
243049519CV2416906single nucleotide variantNM_138386.3(NAF1):c.1462T>C (p.Ser488Pro)not specified [RCV003151578]uncertain significance4163128920163128920Humanname
402489303CV2866518single nucleotide variantNM_138386.3(NAF1):c.1202T>C (p.Met401Thr)not provided [RCV003572851]uncertain significance4163129180163129180Humanname
402493270CV2890455single nucleotide variantNM_138386.3(NAF1):c.1276C>T (p.Leu426Phe)not provided [RCV003573228]uncertain significance4163129106163129106Humanname
405074980CV2937916single nucleotide variantNM_138386.3(NAF1):c.1402C>G (p.Leu468Val)not provided [RCV003664207]uncertain significance4163128980163128980Humanname
405123609CV2942583single nucleotide variantNM_138386.3(NAF1):c.1124G>A (p.Arg375Gln)not provided [RCV003671735]uncertain significance4163129258163129258Humanname
405151782CV2950438single nucleotide variantNM_138386.3(NAF1):c.1412C>T (p.Pro471Leu)not provided [RCV003670108]uncertain significance4163128970163128970Humanname
405168602CV2951055single nucleotide variantNM_138386.3(NAF1):c.1073A>G (p.His358Arg)not provided [RCV003675233]uncertain significance4163129309163129309Humanname
405253852CV3045052single nucleotide variantNM_138386.3(NAF1):c.1105C>T (p.Arg369Cys)not provided [RCV003722725]uncertain significance4163129277163129277Humanname
405143116CV3056101single nucleotide variantNM_138386.3(NAF1):c.1309C>T (p.Arg437Cys)not provided [RCV003725826]|not specified [RCV004827990]uncertain significance4163129073163129073Humanname
404981780CV3121409single nucleotide variantNM_138386.3(NAF1):c.1262A>G (p.Gln421Arg)not provided [RCV003826208]uncertain significance4163129120163129120Humanname
405183337CV3124056single nucleotide variantNM_138386.3(NAF1):c.1310G>A (p.Arg437His)not provided [RCV003820252]uncertain significance4163129072163129072Humanname
405116583CV3134324single nucleotide variantNM_138386.3(NAF1):c.1200T>G (p.His400Gln)not provided [RCV003836926]uncertain significance4163129182163129182Humanname
405091280CV3134432single nucleotide variantNM_138386.3(NAF1):c.1339G>A (p.Val447Ile)not provided [RCV003834778]uncertain significance4163129043163129043Humanname
404996210CV3172864single nucleotide variantNM_138386.3(NAF1):c.1030C>T (p.Pro344Ser)not provided [RCV003882146]uncertain significance4163133157163133157Humanname
402479433CV3174427single nucleotide variantNM_138386.3(NAF1):c.1051G>A (p.Val351Ile)not provided [RCV003875774]uncertain significance4163129331163129331Humanname
405253628CV3178222single nucleotide variantNM_138386.3(NAF1):c.1025A>G (p.Asn342Ser)not provided [RCV003871003]uncertain significance4163133162163133162Humanname
402507563CV3181775single nucleotide variantNM_138386.3(NAF1):c.1436C>T (p.Pro479Leu)not provided [RCV003878609]uncertain significance4163128946163128946Humanname
407487742CV3447881single nucleotide variantNM_138386.3(NAF1):c.1273C>T (p.Pro425Ser)not specified [RCV004641154]uncertain significance4163129109163129109Humanname
407487760CV3447885single nucleotide variantNM_138386.3(NAF1):c.1172C>T (p.Pro391Leu)not specified [RCV004641158]uncertain significance4163129210163129210Humanname
597903822CV3738224single nucleotide variantNM_138386.3(NAF1):c.1249C>T (p.Pro417Ser)not provided [RCV005072646]uncertain significance4163129133163129133Humanname
597969604CV3753354single nucleotide variantNM_138386.3(NAF1):c.1096A>G (p.Lys366Glu)not provided [RCV005083839]uncertain significance4163129286163129286Humanname
597839355CV3758372single nucleotide variantNM_138386.3(NAF1):c.1345A>G (p.Met449Val)not provided [RCV005086207]uncertain significance4163129037163129037Humanname
597872550CV3768752single nucleotide variantNM_138386.3(NAF1):c.1000C>T (p.Arg334Trp)not provided [RCV005122922]uncertain significance4163133187163133187Humanname
597951850CV3815422single nucleotide variantNM_138386.3(NAF1):c.1414C>T (p.Pro472Ser)not provided [RCV005161372]uncertain significance4163128968163128968Humanname
597943189CV3816406single nucleotide variantNM_138386.3(NAF1):c.1448C>A (p.Ser483Tyr)not provided [RCV005159467]uncertain significance4163128934163128934Humanname
597971096CV3832745single nucleotide variantNM_138386.3(NAF1):c.1423C>A (p.Pro475Thr)not provided [RCV005166824]uncertain significance4163128959163128959Humanname
597914624CV3833953single nucleotide variantNM_138386.3(NAF1):c.1399T>G (p.Ser467Ala)not provided [RCV005183312]uncertain significance4163128983163128983Humanname
597952278CV3843710single nucleotide variantNM_138386.3(NAF1):c.1316C>T (p.Pro439Leu)not provided [RCV005190572]uncertain significance4163129066163129066Humanname
597872712CV3849546single nucleotide variantNM_138386.3(NAF1):c.1378C>T (p.Pro460Ser)not provided [RCV005197727]|not specified [RCV005379831]uncertain significance4163129004163129004Humanname
598204886CV3987147single nucleotide variantNM_138386.3(NAF1):c.1334C>A (p.Pro445Gln)not specified [RCV005376671]uncertain significance4163129048163129048Humanname
598204894CV3987148single nucleotide variantNM_138386.3(NAF1):c.1331C>T (p.Pro444Leu)not specified [RCV005376672]uncertain significance4163129051163129051Humanname
598204900CV3987150single nucleotide variantNM_138386.3(NAF1):c.1102T>C (p.Tyr368His)not specified [RCV005376673]uncertain significance4163129280163129280Humanname
598204913CV3987152single nucleotide variantNM_138386.3(NAF1):c.1259C>T (p.Pro420Leu)not specified [RCV005376675]uncertain significance4163129123163129123Humanname
155936862CV1688329duplicationNM_001128931.2(NAF1):c.1132dup (p.Thr378fs)Pulmonary fibrosis [RCV002509771]likely risk allele4163127016163127017Human2name
156043574CV1688330microsatelliteNM_138386.3(NAF1):c.420GTC[1] (p.Ser145del)Pulmonary fibrosis [RCV002509772]likely risk allele4163164332163164334Humanname
329847486CV2524651deletionNM_138386.3(NAF1):c.956_957del (p.Lys319fs)Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 [RCV003227583]pathogenic4163133230163133231Human1name
597865096CV3861164deletionNM_138386.3(NAF1):c.351_362del (p.115DS[2])not provided [RCV005196512]uncertain significance4163166366163166377Humanname
401903133CV2797107single nucleotide variantNM_001128931.2(NAF1):c.1076C>T (p.Pro359Leu)NAF1-related disorder [RCV003406249]uncertain significance4163127073163127073Humanname , trait , alternate_id
597936729CV3862560deletionNM_138386.3(NAF1):c.974_976del (p.Gln325del)not provided [RCV005207832]uncertain significance4163133211163133213Humanname
596931559CV3538745duplicationNM_138386.3(NAF1):c.289_291dup (p.Thr97_Ser98insThr)not provided [RCV004792871]uncertain significance4163166436163166437Humanname
405038170CV3067675duplicationNM_138386.3(NAF1):c.243_248dup (p.Pro85_Pro86insGlnPro)not provided [RCV003739702]uncertain significance4163166479163166480Humanname