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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


346 records found for search term Snap29
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152982069CV1679025single nucleotide variantSNAP29, MET1?CEDNIK syndrome [RCV002248387]pathogenicHumanname
8558895CV20780deletionSNAP29, 1-BP DEL, 220GCEDNIK syndrome [RCV000006097]pathogenicHumanname
405266877CV3220120single nucleotide variantNM_004782.4(SNAP29):c.-3A>GSNAP29-related disorder [RCV003969390]likely benign222085910820859108Humanname , trait , alternate_id
11623806CV337543single nucleotide variantNM_004782.4(SNAP29):c.-5G>ACEDNIK syndrome [RCV000377736]|not provided [RCV001558736]|not specified [RCV000516705]benign|likely benign222085910620859106Human1name
11629934CV351151single nucleotide variantNM_004782.4(SNAP29):c.-8C>GCEDNIK syndrome [RCV000337114]|not provided [RCV001546159]|not specified [RCV000503693]benign|likely benign|conflicting interpretations of pathogenicity222085910320859103Human1name
28874170CV890888single nucleotide variantNM_004782.4(SNAP29):c.*6G>ACEDNIK syndrome [RCV001147088]|not specified [RCV001819851]uncertain significance222088784220887842Human1name
150406171CV1195609single nucleotide variantNM_004782.4(SNAP29):c.-54G>Tnot provided [RCV001571957]likely benign222085905720859057Humanname
11628085CV347118single nucleotide variantNM_004782.4(SNAP29):c.-68A>TCEDNIK syndrome [RCV000295212]|not provided [RCV004712243]benign|likely benign222085904320859043Human1name
11654398CV347123single nucleotide variantNM_004782.4(SNAP29):c.-40T>GCEDNIK syndrome [RCV000317418]uncertain significance222085907120859071Human1name
11629778CV352155single nucleotide variantNM_004782.4(SNAP29):c.-76G>ACEDNIK syndrome [RCV000333434]|not provided [RCV004694655]uncertain significance222085903520859035Human1name
11631272CV352157single nucleotide variantNM_004782.4(SNAP29):c.-32C>GCEDNIK syndrome [RCV000372046]|not provided [RCV001584045]benign|likely benign222085907920859079Human1name
11627441CV352170single nucleotide variantNM_004782.4(SNAP29):c.-19C>TCEDNIK syndrome [RCV000282177]|not provided [RCV001672608]|not specified [RCV000433662]benign|no classifications from unflagged records222085909220859092Human1name
28873933CV890881single nucleotide variantNM_004782.4(SNAP29):c.-93G>TCEDNIK syndrome [RCV001146982]uncertain significance222085901820859018Human1name
28873936CV890882single nucleotide variantNM_004782.4(SNAP29):c.-60G>ACEDNIK syndrome [RCV001146983]uncertain significance222085905120859051Human1name
28873939CV890883single nucleotide variantNM_004782.4(SNAP29):c.-58C>ACEDNIK syndrome [RCV001146984]uncertain significance222085905320859053Human1name
28874173CV890889single nucleotide variantNM_004782.4(SNAP29):c.*26T>CCEDNIK syndrome [RCV001147089]likely benign222088786220887862Human1name
28874177CV890890single nucleotide variantNM_004782.4(SNAP29):c.*61C>GCEDNIK syndrome [RCV001147090]uncertain significance222088789720887897Human1name
11622298CV337560single nucleotide variantNM_004782.4(SNAP29):c.*614C>GCEDNIK syndrome [RCV000358811]likely benign|uncertain significance222088845020888450Human1name
11619283CV337568single nucleotide variantNM_004782.4(SNAP29):c.*780G>TCEDNIK syndrome [RCV000323769]uncertain significance222088861620888616Human1name
11631136CV347139single nucleotide variantNM_004782.4(SNAP29):c.*123G>CCEDNIK syndrome [RCV000369346]|not provided [RCV001712130]benign|likely benign222088795920887959Human1name
11626279CV347144single nucleotide variantNM_004782.4(SNAP29):c.*138C>TCEDNIK syndrome [RCV000260517]|not provided [RCV004712244]benign|likely benign222088797420887974Human1name
11654224CV347145single nucleotide variantNM_004782.4(SNAP29):c.*240C>TCEDNIK syndrome [RCV000315886]uncertain significance222088807620888076Human1name
11626577CV347152single nucleotide variantNM_004782.4(SNAP29):c.*420A>GCEDNIK syndrome [RCV000266039]|not provided [RCV004712245]benign222088825620888256Human1name
11626478CV347156single nucleotide variantNM_004782.4(SNAP29):c.*740C>TCEDNIK syndrome [RCV000264040]|not provided [RCV004712247]benign|likely benign222088857620888576Human1name
11661616CV347161single nucleotide variantNM_004782.4(SNAP29):c.*816C>TCEDNIK syndrome [RCV000378417]uncertain significance222088865220888652Human1name
11626429CV351164single nucleotide variantNM_004782.4(SNAP29):c.*519A>TCEDNIK syndrome [RCV000263797]uncertain significance222088835520888355Human1name
11631327CV352174single nucleotide variantNM_004782.4(SNAP29):c.*255G>ACEDNIK syndrome [RCV000375091]uncertain significance222088809120888091Human1name
11628380CV352190single nucleotide variantNM_004782.4(SNAP29):c.*521T>ACEDNIK syndrome [RCV000300230]|not provided [RCV004712246]benign222088835720888357Human1name
11626803CV352191single nucleotide variantNM_004782.4(SNAP29):c.*840G>CCEDNIK syndrome [RCV000270027]|not provided [RCV004694661]uncertain significance222088867620888676Human1name
28874178CV890891single nucleotide variantNM_004782.4(SNAP29):c.*210A>CCEDNIK syndrome [RCV001147091]uncertain significance222088804620888046Human1name
28876248CV890892single nucleotide variantNM_004782.4(SNAP29):c.*242G>ACEDNIK syndrome [RCV001147971]uncertain significance222088807820888078Human1name
28876251CV890893single nucleotide variantNM_004782.4(SNAP29):c.*267C>TCEDNIK syndrome [RCV001147972]uncertain significance222088810320888103Human1name
28876253CV890894single nucleotide variantNM_004782.4(SNAP29):c.*496C>GCEDNIK syndrome [RCV001147973]uncertain significance222088833220888332Human1name
28876257CV890895single nucleotide variantNM_004782.4(SNAP29):c.*507A>CCEDNIK syndrome [RCV001147974]uncertain significance222088834320888343Human1name
28881131CV890896single nucleotide variantNM_004782.4(SNAP29):c.*590T>CCEDNIK syndrome [RCV001149526]uncertain significance222088842620888426Human1name
28881134CV890897single nucleotide variantNM_004782.4(SNAP29):c.*624C>TCEDNIK syndrome [RCV001149527]uncertain significance222088846020888460Human1name
28881139CV890898single nucleotide variantNM_004782.4(SNAP29):c.*755A>GCEDNIK syndrome [RCV001149528]|not provided [RCV004712958]benign222088859120888591Human1name
28870125CV890899single nucleotide variantNM_004782.4(SNAP29):c.*822C>TCEDNIK syndrome [RCV001145227]uncertain significance222088865820888658Human1name
28870128CV890900single nucleotide variantNM_004782.4(SNAP29):c.*948G>ACEDNIK syndrome [RCV001145228]uncertain significance222088878420888784Human1name
28870132CV890901single nucleotide variantNM_004782.4(SNAP29):c.*991C>ACEDNIK syndrome [RCV001145229]uncertain significance222088882720888827Human1name
126727626CV1018791single nucleotide variantNM_004782.4(SNAP29):c.435-3A>GCEDNIK syndrome [RCV001332511]uncertain significance222088104620881046Human1name
150544835CV1305543single nucleotide variantNM_004782.4(SNAP29):c.434+5G>Anot provided [RCV001774532]uncertain significance222087053820870538Humanname
155994104CV2059923single nucleotide variantNM_004782.4(SNAP29):c.620-4G>Tnot provided [RCV002819340]likely benign222088767520887675Humanname
155951078CV2076384single nucleotide variantNM_004782.4(SNAP29):c.434+6T>Gnot provided [RCV002862351]uncertain significance222087053920870539Humanname
155922895CV2099400single nucleotide variantNM_004782.4(SNAP29):c.435-7T>CSNAP29-related disorder [RCV003898577]|not provided [RCV002903434]likely benign222088104220881042Human1name , trait , alternate_id
155966628CV2142580single nucleotide variantNM_004782.4(SNAP29):c.521-8A>Tnot provided [RCV002995419]likely benign222088346320883463Humanname
405095681CV2874758single nucleotide variantNM_004782.4(SNAP29):c.521-9T>Cnot provided [RCV003550150]likely benign222088346220883462Humanname
405212418CV2878534single nucleotide variantNM_004782.4(SNAP29):c.238-1G>Anot provided [RCV003552726]likely pathogenic222087033620870336Humanname
402471148CV2904291single nucleotide variantNM_004782.4(SNAP29):c.619+8T>Gnot provided [RCV003570434]likely benign222088357720883577Humanname
402481019CV2911074single nucleotide variantNM_004782.4(SNAP29):c.435-9T>Cnot provided [RCV003572080]likely benign222088104020881040Humanname
405145475CV2955234single nucleotide variantNM_004782.4(SNAP29):c.435-8A>Gnot provided [RCV003673526]likely benign222088104120881041Humanname
405223945CV2982758single nucleotide variantNM_004782.4(SNAP29):c.434+9A>Gnot provided [RCV003681064]likely benign222087054220870542Humanname
404999156CV3008765single nucleotide variantNM_004782.4(SNAP29):c.435-9T>Gnot provided [RCV003692896]likely benign222088104020881040Humanname
405166138CV3018874single nucleotide variantNM_004782.4(SNAP29):c.237+8T>Cnot provided [RCV003704327]likely benign222085935520859355Humanname
405116280CV3020108single nucleotide variantNM_004782.4(SNAP29):c.520+2T>Cnot provided [RCV003700275]likely pathogenic222088113620881136Humanname
405072950CV3140358single nucleotide variantNM_004782.4(SNAP29):c.238-6C>Anot provided [RCV003833513]likely benign222087033120870331Humanname
405290207CV3221202single nucleotide variantNM_004782.4(SNAP29):c.520+3A>GSNAP29-related disorder [RCV003962180]likely benign222088113720881137Humanname , trait , alternate_id
11619943CV337570single nucleotide variantNM_004782.4(SNAP29):c.*1490T>CCEDNIK syndrome [RCV000331061]benign|likely benign222088932620889326Human1name
11624390CV337575single nucleotide variantNM_004782.4(SNAP29):c.*1519T>CCEDNIK syndrome [RCV000385608]|not provided [RCV004712249]benign222088935520889355Human1name
11621665CV337586single nucleotide variantNM_004782.4(SNAP29):c.*1563T>GCEDNIK syndrome [RCV000351302]|not provided [RCV004712250]benign222088939920889399Human1name
11622596CV337588single nucleotide variantNM_004782.4(SNAP29):c.*2111G>TCEDNIK syndrome [RCV000362425]uncertain significance222088994720889947Human1name
11623084CV337590single nucleotide variantNM_004782.4(SNAP29):c.*2179G>ACEDNIK syndrome [RCV000368373]uncertain significance222089001520890015Human1name
11618621CV337594single nucleotide variantNM_004782.4(SNAP29):c.*2501G>ACEDNIK syndrome [RCV000315780]uncertain significance222089033720890337Human1name
11620753CV337596single nucleotide variantNM_004782.4(SNAP29):c.*2692C>TCEDNIK syndrome [RCV000340321]|not provided [RCV004712253]benign|likely benign222089052820890528Human1name
11617670CV337597single nucleotide variantNM_004782.4(SNAP29):c.*2816A>GCEDNIK syndrome [RCV000306894]|not provided [RCV004712254]benign222089065220890652Human1name
11625820CV337599single nucleotide variantNM_004782.4(SNAP29):c.*2872G>ACEDNIK syndrome [RCV000403610]benign|likely benign222089070820890708Human1name
11614579CV337602deletionNM_004782.4(SNAP29):c.*2944delCEDNIK syndrome [RCV000277949]uncertain significance222089075920890759Human1name
11612516CV337605single nucleotide variantNM_004782.4(SNAP29):c.*2961T>CCEDNIK syndrome [RCV000260348]|not provided [RCV004712256]benign222089079720890797Human1name
11632406CV347162single nucleotide variantNM_004782.4(SNAP29):c.*1570T>CCEDNIK syndrome [RCV000407668]uncertain significance222088940620889406Human1name
11626959CV347165single nucleotide variantNM_004782.4(SNAP29):c.*2143G>ACEDNIK syndrome [RCV000272693]likely benign|uncertain significance222088997920889979Human1name
11662589CV347166single nucleotide variantNM_004782.4(SNAP29):c.*2304C>TCEDNIK syndrome [RCV000387633]uncertain significance222089014020890140Human1name
11627255CV347172single nucleotide variantNM_004782.4(SNAP29):c.*2411T>CCEDNIK syndrome [RCV000279313]likely benign|uncertain significance222089024720890247Human1name
11631874CV347176single nucleotide variantNM_004782.4(SNAP29):c.*2777G>ACEDNIK syndrome [RCV000391389]uncertain significance222089061320890613Human1name
11630131CV347177single nucleotide variantNM_004782.4(SNAP29):c.*2791T>CCEDNIK syndrome [RCV000342023]benign|uncertain significance222089062720890627Human1name
11661257CV347180single nucleotide variantNM_004782.4(SNAP29):c.*3035C>TCEDNIK syndrome [RCV000374791]uncertain significance222089087120890871Human1name
11645553CV347184single nucleotide variantNM_004782.4(SNAP29):c.*3107C>TCEDNIK syndrome [RCV000266221]uncertain significance222089094320890943Human1name
11631482CV347188single nucleotide variantNM_004782.4(SNAP29):c.*3193G>ACEDNIK syndrome [RCV000378484]uncertain significance222089102920891029Human1name
11628146CV351170single nucleotide variantNM_004782.4(SNAP29):c.*1543A>CCEDNIK syndrome [RCV000296403]uncertain significance222088937920889379Human1name
11629984CV351173single nucleotide variantNM_004782.4(SNAP29):c.*1667G>ACEDNIK syndrome [RCV000338355]likely benign|uncertain significance222088950320889503Human1name
11632241CV351174single nucleotide variantNM_004782.4(SNAP29):c.*1789C>ACEDNIK syndrome [RCV000402604]uncertain significance222088962520889625Human1name
11630881CV351177single nucleotide variantNM_004782.4(SNAP29):c.*2052A>TCEDNIK syndrome [RCV000361373]uncertain significance222088988820889888Human1name
11632355CV351179single nucleotide variantNM_004782.4(SNAP29):c.*2105T>GCEDNIK syndrome [RCV000405980]|not provided [RCV004712251]benign|likely benign222088994120889941Human1name
11627000CV351181single nucleotide variantNM_004782.4(SNAP29):c.*2261G>ACEDNIK syndrome [RCV000273432]uncertain significance222089009720890097Human1name
11648169CV351182duplicationNM_004782.4(SNAP29):c.*2564dupCEDNIK syndrome [RCV000280622]uncertain significance222089039720890398Human1name
11627695CV351183single nucleotide variantNM_004782.4(SNAP29):c.*2783C>TCEDNIK syndrome [RCV000287042]benign|uncertain significance222089061920890619Human1name
11631019CV351184single nucleotide variantNM_004782.4(SNAP29):c.*2856G>ACEDNIK syndrome [RCV000366301]benign|likely benign222089069220890692Human1name
11628955CV351187single nucleotide variantNM_004782.4(SNAP29):c.*2879C>TCEDNIK syndrome [RCV000312730]|not provided [RCV004712255]benign|likely benign222089071520890715Human1name
11660499CV351188single nucleotide variantNM_004782.4(SNAP29):c.*2912G>ACEDNIK syndrome [RCV000367808]uncertain significance222089074820890748Human1name
11629279CV351191single nucleotide variantNM_004782.4(SNAP29):c.*3015G>ACEDNIK syndrome [RCV000320178]|not provided [RCV004712257]benign|likely benign222089085120890851Human1name
11655161CV351192single nucleotide variantNM_004782.4(SNAP29):c.*3171G>ACEDNIK syndrome [RCV000323821]uncertain significance222089100720891007Human1name
11627806CV351193single nucleotide variantNM_004782.4(SNAP29):c.*3252T>GCEDNIK syndrome [RCV000288728]likely benign|uncertain significance222089108820891088Human1name
11629511CV352193single nucleotide variantNM_004782.4(SNAP29):c.*1061C>TCEDNIK syndrome [RCV000325040]uncertain significance222088889720888897Human1name
11631637CV352195single nucleotide variantNM_004782.4(SNAP29):c.*1129T>CCEDNIK syndrome [RCV000384409]|not provided [RCV004712248]benign222088896520888965Human1name
11627827CV352197single nucleotide variantNM_004782.4(SNAP29):c.*1315C>GCEDNIK syndrome [RCV000290048]uncertain significance222088915120889151Human1name
11627273CV352208single nucleotide variantNM_004782.4(SNAP29):c.*1589T>CCEDNIK syndrome [RCV000278730]uncertain significance222088942520889425Human1name
11628436CV352210single nucleotide variantNM_004782.4(SNAP29):c.*2028G>ACEDNIK syndrome [RCV000302015]uncertain significance222088986420889864Human1name
11652906CV352211duplicationNM_004782.4(SNAP29):c.*2121dupCEDNIK syndrome [RCV000307962]uncertain significance222088994720889948Human1name
11655690CV352212single nucleotide variantNM_004782.4(SNAP29):c.*2168A>CCEDNIK syndrome [RCV000327756]uncertain significance222089000420890004Human1name
11629802CV352213single nucleotide variantNM_004782.4(SNAP29):c.*2261G>TCEDNIK syndrome [RCV000333262]|not provided [RCV004712252]benign222089009720890097Human1name
11631325CV352214single nucleotide variantNM_004782.4(SNAP29):c.*2551G>ACEDNIK syndrome [RCV000375019]benign|uncertain significance222089038720890387Human1name
11631873CV352215single nucleotide variantNM_004782.4(SNAP29):c.*2795C>TCEDNIK syndrome [RCV000391387]benign|likely benign222089063120890631Human1name
597667763CV3727019single nucleotide variantNM_004782.4(SNAP29):c.620-1G>CCEDNIK syndrome [RCV005029272]likely pathogenic222088767820887678Human1name
597949385CV3772335single nucleotide variantNM_004782.4(SNAP29):c.521-4T>Gnot provided [RCV005120654]likely benign222088346720883467Humanname
15136102CV760747single nucleotide variantNM_004782.4(SNAP29):c.620-7C>Gnot provided [RCV000920959]likely benign222088767220887672Humanname
28870136CV890902single nucleotide variantNM_004782.4(SNAP29):c.*1174C>TCEDNIK syndrome [RCV001145230]uncertain significance222088901020889010Human1name
28874403CV890903single nucleotide variantNM_004782.4(SNAP29):c.*1437T>CCEDNIK syndrome [RCV001147198]uncertain significance222088927320889273Human1name
28874406CV890904single nucleotide variantNM_004782.4(SNAP29):c.*1438G>ACEDNIK syndrome [RCV001147199]uncertain significance222088927420889274Human1name
28876575CV890905single nucleotide variantNM_004782.4(SNAP29):c.*1675C>TCEDNIK syndrome [RCV001148083]uncertain significance222088951120889511Human1name
28876580CV890906single nucleotide variantNM_004782.4(SNAP29):c.*1874A>CCEDNIK syndrome [RCV001148084]uncertain significance222088971020889710Human1name
28876582CV890907single nucleotide variantNM_004782.4(SNAP29):c.*2039T>GCEDNIK syndrome [RCV001148085]uncertain significance222088987520889875Human1name
28881484CV890908single nucleotide variantNM_004782.4(SNAP29):c.*2059C>TCEDNIK syndrome [RCV001149641]uncertain significance222088989520889895Human1name
28881490CV890909single nucleotide variantNM_004782.4(SNAP29):c.*2171T>CCEDNIK syndrome [RCV001149642]uncertain significance222089000720890007Human1name
28870358CV890910single nucleotide variantNM_004782.4(SNAP29):c.*2277C>TCEDNIK syndrome [RCV001145330]|not provided [RCV003438678]benign|likely benign222089011320890113Human1name
28870361CV890911single nucleotide variantNM_004782.4(SNAP29):c.*2280G>ACEDNIK syndrome [RCV001145331]uncertain significance222089011620890116Human1name
28870364CV890912single nucleotide variantNM_004782.4(SNAP29):c.*2364A>GCEDNIK syndrome [RCV001145332]uncertain significance222089020020890200Human1name
28870366CV890913single nucleotide variantNM_004782.4(SNAP29):c.*2412C>TCEDNIK syndrome [RCV001145333]uncertain significance222089024820890248Human1name
28870368CV890914single nucleotide variantNM_004782.4(SNAP29):c.*2484G>CCEDNIK syndrome [RCV001145334]uncertain significance222089032020890320Human1name
28874598CV890915single nucleotide variantNM_004782.4(SNAP29):c.*2678T>CCEDNIK syndrome [RCV001147279]uncertain significance222089051420890514Human1name
28874601CV890916single nucleotide variantNM_004782.4(SNAP29):c.*2712G>ACEDNIK syndrome [RCV001147280]uncertain significance222089054820890548Human1name
28874603CV890917single nucleotide variantNM_004782.4(SNAP29):c.*2738G>ACEDNIK syndrome [RCV001147281]uncertain significance222089057420890574Human1name
28874605CV890918single nucleotide variantNM_004782.4(SNAP29):c.*2749A>GCEDNIK syndrome [RCV001147282]uncertain significance222089058520890585Human1name
28876889CV890919single nucleotide variantNM_004782.4(SNAP29):c.*2796G>ACEDNIK syndrome [RCV001148182]benign222089063220890632Human1name
28876893CV890920single nucleotide variantNM_004782.4(SNAP29):c.*2868A>GCEDNIK syndrome [RCV001148183]uncertain significance222089070420890704Human1name
28882523CV890921single nucleotide variantNM_004782.4(SNAP29):c.*2892C>TCEDNIK syndrome [RCV001149969]|not provided [RCV004712959]benign222089072820890728Human1name
28882526CV890922single nucleotide variantNM_004782.4(SNAP29):c.*2944A>GCEDNIK syndrome [RCV001149970]uncertain significance222089078020890780Human1name
28882532CV890923single nucleotide variantNM_004782.4(SNAP29):c.*3014C>TCEDNIK syndrome [RCV001149971]|not provided [RCV004694931]uncertain significance222089085020890850Human1name
28903050CV890924single nucleotide variantNM_004782.4(SNAP29):c.*3156G>ACEDNIK syndrome [RCV001143850]uncertain significance222089099220890992Human1name
28903052CV890925single nucleotide variantNM_004782.4(SNAP29):c.*3233A>GCEDNIK syndrome [RCV001143851]uncertain significance222089106920891069Human1name
28903054CV890926single nucleotide variantNM_004782.4(SNAP29):c.*3246A>GCEDNIK syndrome [RCV001143852]likely benign222089108220891082Human1name
28871226CV890927single nucleotide variantNM_004782.4(SNAP29):c.*3268T>CCEDNIK syndrome [RCV001145747]uncertain significance222089110420891104Human1name
28871229CV890928single nucleotide variantNM_004782.4(SNAP29):c.*3283T>GCEDNIK syndrome [RCV001145748]uncertain significance222089111920891119Human1name
28871231CV890929single nucleotide variantNM_004782.4(SNAP29):c.*3284G>TCEDNIK syndrome [RCV001145749]uncertain significance222089112020891120Human1name
28871233CV890930single nucleotide variantNM_004782.4(SNAP29):c.*3285G>TCEDNIK syndrome [RCV001145750]likely benign222089112120891121Human1name
28869909CV891809single nucleotide variantNM_004782.4(SNAP29):c.620-6C>GCEDNIK syndrome [RCV001145131]|not provided [RCV003769698]likely benign|uncertain significance222088767320887673Human1name
28869912CV891810single nucleotide variantNM_004782.4(SNAP29):c.620-4G>ACEDNIK syndrome [RCV001145132]|Inborn genetic diseases [RCV002557109]|not provided [RCV002070752]likely benign|uncertain significance222088767520887675Human2name
40889963CV975573single nucleotide variantNM_004782.4(SNAP29):c.238-2A>Gnot provided [RCV001268503]likely pathogenic222087033520870335Humanname
150482271CV1261594single nucleotide variantNM_004782.4(SNAP29):c.238-44G>Anot provided [RCV001686197]benign222087029320870293Humanname
156077737CV1952759single nucleotide variantNM_004782.4(SNAP29):c.620-13C>Tnot provided [RCV002569806]likely benign222088766620887666Humanname
156284750CV1964533single nucleotide variantNM_004782.4(SNAP29):c.520+10T>Cnot provided [RCV002577596]likely benign222088114420881144Humanname
155932577CV2035159single nucleotide variantNM_004782.4(SNAP29):c.237+10G>Anot provided [RCV002751242]likely benign222085935720859357Humanname
156332298CV2075909single nucleotide variantNM_004782.4(SNAP29):c.434+10T>Anot provided [RCV002835366]likely benign222087054320870543Humanname
156354028CV2190678single nucleotide variantNM_004782.4(SNAP29):c.434+14C>Gnot provided [RCV003048548]likely benign222087054720870547Humanname
405110147CV2898925single nucleotide variantNM_004782.4(SNAP29):c.434+14C>Tnot provided [RCV003557761]likely benign222087054720870547Humanname
402470623CV2928003single nucleotide variantNM_004782.4(SNAP29):c.435-17T>Cnot provided [RCV003570334]likely benign222088103220881032Humanname
405069985CV2936872single nucleotide variantNM_004782.4(SNAP29):c.238-14C>Tnot provided [RCV003659284]likely benign222087032320870323Humanname
402482039CV2940703single nucleotide variantNM_004782.4(SNAP29):c.238-20C>Gnot provided [RCV003659653]likely benign222087031720870317Humanname
405247954CV2980736single nucleotide variantNM_004782.4(SNAP29):c.237+17G>Anot provided [RCV003720966]likely benign222085936420859364Humanname
405116822CV2996563single nucleotide variantNM_004782.4(SNAP29):c.521-13C>Tnot provided [RCV003723391]likely benign222088345820883458Humanname
405131075CV3011113single nucleotide variantNM_004782.4(SNAP29):c.237+11G>Anot provided [RCV003701703]likely benign222085935820859358Humanname
405135555CV3018289single nucleotide variantNM_004782.4(SNAP29):c.434+20T>Gnot provided [RCV003701884]likely benign222087055320870553Humanname
405094857CV3022789single nucleotide variantNM_004782.4(SNAP29):c.520+19G>Anot provided [RCV003699980]likely benign222088115320881153Humanname
405136198CV3028663single nucleotide variantNM_004782.4(SNAP29):c.434+19A>Gnot provided [RCV003702122]likely benign222087055220870552Humanname
405049603CV3028971single nucleotide variantNM_004782.4(SNAP29):c.435-18G>Anot provided [RCV003696800]likely benign222088103120881031Humanname
405196016CV3128671single nucleotide variantNM_004782.4(SNAP29):c.238-14C>Gnot provided [RCV003821409]likely benign222087032320870323Humanname
405058551CV3134947single nucleotide variantNM_004782.4(SNAP29):c.237+14A>Gnot provided [RCV003832619]likely benign222085936120859361Humanname
405073556CV3145421single nucleotide variantNM_004782.4(SNAP29):c.238-13T>Anot provided [RCV003851006]likely benign222087032420870324Humanname
405232217CV3157542single nucleotide variantNM_004782.4(SNAP29):c.237+13C>Tnot provided [RCV003865492]likely benign222085936020859360Humanname
405219876CV3161425single nucleotide variantNM_004782.4(SNAP29):c.619+17C>Tnot provided [RCV003863294]likely benign222088358620883586Humanname
597940707CV3819108single nucleotide variantNM_004782.4(SNAP29):c.237+12G>Anot provided [RCV005158919]likely benign222085935920859359Humanname
15155781CV731398single nucleotide variantNM_004782.4(SNAP29):c.620-10C>Tnot provided [RCV000880487]likely benign222088766920887669Humanname
28880760CV891806single nucleotide variantNM_004782.4(SNAP29):c.237+10G>TCEDNIK syndrome [RCV001149419]uncertain significance222085935720859357Human1name
28880765CV891807single nucleotide variantNM_004782.4(SNAP29):c.238-12C>TCEDNIK syndrome [RCV001149420]|not provided [RCV003769715]likely benign|uncertain significance222087032520870325Human1name
28869904CV891808single nucleotide variantNM_004782.4(SNAP29):c.520+14T>CCEDNIK syndrome [RCV001145129]uncertain significance222088114820881148Human1name
150411658CV1178574single nucleotide variantNM_004782.4(SNAP29):c.520+214C>Gnot provided [RCV001547251]likely benign222088134820881348Humanname
150437497CV1262316deletionNM_004782.4(SNAP29):c.620-113delnot provided [RCV001678674]benign222088756620887566Humanname
150493824CV1267226single nucleotide variantNM_004782.4(SNAP29):c.238-291G>Anot provided [RCV001688254]benign222087004620870046Humanname
150489779CV1267502single nucleotide variantNM_004782.4(SNAP29):c.620-113T>Cnot provided [RCV001687526]benign222088756620887566Humanname
11657982CV337559microsatelliteNM_004782.4(SNAP29):c.*477AC[21]CEDNIK syndrome [RCV000345437]uncertain significance222088831220888313Humanname
11661916CV351163microsatelliteNM_004782.4(SNAP29):c.*477AC[20]CEDNIK syndrome [RCV000381344]uncertain significance222088831220888315Humanname
11635681CV351169microsatelliteNM_004782.4(SNAP29):c.*477AC[23]CEDNIK syndrome [RCV000380452]uncertain significance222088831120888312Humanname
11662390CV352156deletionNM_004782.4(SNAP29):c.-70_-69delCEDNIK syndrome [RCV000385693]uncertain significance222085904020859041Human1name
11627615CV352175microsatelliteNM_004782.4(SNAP29):c.*477AC[24]CEDNIK syndrome [RCV000285871]|not provided [RCV004694656]uncertain significance222088831120888312Humanname
150531254CV1291037microsatelliteNM_004782.4(SNAP29):c.620-210AC[9]not provided [RCV001732981]likely benign222088746820887469Humanname
11664553CV347153deletionNM_004782.4(SNAP29):c.*513_*522delCEDNIK syndrome [RCV000407016]uncertain significance222088834820888357Human1name
11650227CV351161deletionNM_004782.4(SNAP29):c.*505_*522delCEDNIK syndrome [RCV000291552]|not provided [RCV004694657]uncertain significance222088834020888357Human1name
11628919CV351162deletionNM_004782.4(SNAP29):c.*515_*522delCEDNIK syndrome [RCV000311933]|not provided [RCV004694658]uncertain significance222088835020888357Human1name
11628280CV352176deletionNM_004782.4(SNAP29):c.*517_*522delCEDNIK syndrome [RCV000298898]|not provided [RCV004694659]uncertain significance222088835220888357Human1name
11630584CV352189deletionNM_004782.4(SNAP29):c.*519_*522delCEDNIK syndrome [RCV000353804]|not provided [RCV004694660]uncertain significance222088835420888357Human1name
11615150CV337551single nucleotide variantNM_004782.4(SNAP29):c.6A>G (p.Ser2=)CEDNIK syndrome [RCV000283266]|not provided [RCV003678995]likely benign|uncertain significance222085911620859116Human1name
11656396CV337600deletionNM_004782.4(SNAP29):c.*2937_*2944delCEDNIK syndrome [RCV000333048]|not provided [RCV004694662]uncertain significance222089075920890766Human1name
152042397CV1537969single nucleotide variantNM_004782.4(SNAP29):c.15T>G (p.Pro5=)not provided [RCV002165860]likely benign222085912520859125Humanname
405070330CV3031071single nucleotide variantNM_004782.4(SNAP29):c.12C>T (p.Tyr4=)not provided [RCV003698226]likely benign222085912220859122Humanname
11620960CV337552single nucleotide variantNM_004782.4(SNAP29):c.18A>G (p.Lys6=)CEDNIK syndrome [RCV000342922]|not provided [RCV000713380]|not specified [RCV000444231]benign|no classifications from unflagged records222085912820859128Human1name
156393060CV1983344single nucleotide variantNM_004782.4(SNAP29):c.60C>T (p.Ala20=)not provided [RCV002604851]likely benign222085917020859170Humanname
11632722CV264773single nucleotide variantNM_004782.4(SNAP29):c.2T>C (p.Met1Thr)CEDNIK syndrome [RCV002251740]|Hypomyelinating leukodystrophy 2 [RCV000454300]|not provided [RCV000280099]pathogenic|likely pathogenic222085911220859112Human2name
405194353CV2985797single nucleotide variantNM_004782.4(SNAP29):c.39C>T (p.Asp13=)not provided [RCV003706683]likely benign222085914920859149Humanname
405225565CV3058478single nucleotide variantNM_004782.4(SNAP29):c.96C>T (p.Pro32=)not provided [RCV003733981]likely benign222085920620859206Humanname
405138360CV3144700single nucleotide variantNM_004782.4(SNAP29):c.66G>A (p.Pro22=)not provided [RCV003855217]likely benign222085917620859176Humanname
405204075CV3165189single nucleotide variantNM_004782.4(SNAP29):c.45G>A (p.Gly15=)not provided [RCV003861050]likely benign222085915520859155Humanname
11654832CV351157indelNM_004782.4(SNAP29):c.*472_*483delinsTCEDNIK syndrome [RCV000321150]uncertain significance222088830820888319Humanname
15170823CV729047single nucleotide variantNM_004782.4(SNAP29):c.36C>T (p.Asp12=)not provided [RCV000883541]likely benign222085914620859146Humanname
15192026CV742770single nucleotide variantNM_004782.4(SNAP29):c.72T>A (p.Pro24=)CEDNIK syndrome [RCV001147877]|SNAP29-related disorder [RCV003923138]|not provided [RCV000910417]benign222085918220859182Human1name , trait , alternate_id
127286931CV1152915single nucleotide variantNM_004782.4(SNAP29):c.16A>G (p.Lys6Glu)not provided [RCV001507492]uncertain significance222085912620859126Humanname
127286933CV1152916single nucleotide variantNM_004782.4(SNAP29):c.22T>C (p.Tyr8His)not provided [RCV001507493]uncertain significance222085913220859132Humanname
152105716CV1536803single nucleotide variantNM_004782.4(SNAP29):c.174C>A (p.Ala58=)not provided [RCV002173688]likely benign222085928420859284Humanname
156395731CV1980407single nucleotide variantNM_004782.4(SNAP29):c.136C>A (p.Arg46=)not provided [RCV002605114]likely benign222085924620859246Humanname
156114589CV1985880single nucleotide variantNM_004782.4(SNAP29):c.144G>A (p.Glu48=)not provided [RCV002622711]likely benign222085925420859254Humanname
156115499CV2046550single nucleotide variantNM_004782.4(SNAP29):c.26A>G (p.Asn9Ser)Inborn genetic diseases [RCV002800012]|not provided [RCV002770302]uncertain significance222085913620859136Human1name
156335927CV2099502single nucleotide variantNM_004782.4(SNAP29):c.153C>G (p.Arg51=)not provided [RCV002900201]likely benign222085926320859263Humanname
156296392CV2179499single nucleotide variantNM_004782.4(SNAP29):c.20G>A (p.Ser7Asn)not provided [RCV003027892]uncertain significance222085913020859130Humanname
156209331CV2298199single nucleotide variantNM_004782.4(SNAP29):c.11A>G (p.Tyr4Cys)Inborn genetic diseases [RCV002875351]uncertain significance222085912120859121Human1name
401894997CV2792664single nucleotide variantNM_004782.4(SNAP29):c.14C>G (p.Pro5Arg)Inborn genetic diseases [RCV003372062]uncertain significance222085912420859124Human1name
402515186CV2855674single nucleotide variantNM_004782.4(SNAP29):c.165C>T (p.Ala55=)not provided [RCV003547343]likely benign222085927520859275Humanname
405205644CV2916137single nucleotide variantNM_004782.4(SNAP29):c.261C>T (p.Val87=)not provided [RCV003566385]likely benign222087036020870360Humanname
402516162CV2936397single nucleotide variantNM_004782.4(SNAP29):c.159T>G (p.Ala53=)not provided [RCV003662966]likely benign222085926920859269Humanname
405065053CV2937166single nucleotide variantNM_004782.4(SNAP29):c.102G>T (p.Gly34=)not provided [RCV003663632]likely benign222085921220859212Humanname
405240850CV2974053single nucleotide variantNM_004782.4(SNAP29):c.198C>G (p.Leu66=)not provided [RCV003684037]likely benign222085930820859308Humanname
402496176CV2988654single nucleotide variantNM_004782.4(SNAP29):c.159T>A (p.Ala53=)not provided [RCV003714280]likely benign222085926920859269Humanname
402481415CV3041536single nucleotide variantNM_004782.4(SNAP29):c.133T>C (p.Leu45=)not provided [RCV003712843]likely benign222085924320859243Humanname
405179166CV3056511single nucleotide variantNM_004782.4(SNAP29):c.243C>T (p.Leu81=)not provided [RCV003728553]likely benign222087034220870342Humanname
405157133CV3065064single nucleotide variantNM_004782.4(SNAP29):c.180C>T (p.Thr60=)not provided [RCV003726838]likely benign222085929020859290Humanname
405013656CV3128242single nucleotide variantNM_004782.4(SNAP29):c.190C>T (p.Leu64=)not provided [RCV003829122]likely benign222085930020859300Humanname
405200441CV3128918single nucleotide variantNM_004782.4(SNAP29):c.111G>T (p.Ala37=)not provided [RCV003821961]likely benign222085922120859221Humanname
405019784CV3129163single nucleotide variantNM_004782.4(SNAP29):c.171C>T (p.Ala57=)not provided [RCV003829726]likely benign222085928120859281Humanname
405059684CV3129448single nucleotide variantNM_004782.4(SNAP29):c.105C>T (p.Pro35=)not provided [RCV003832717]likely benign222085921520859215Humanname
405135897CV3130583single nucleotide variantNM_004782.4(SNAP29):c.141G>A (p.Gln47=)not provided [RCV003838816]likely benign222085925120859251Humanname
405022830CV3139304single nucleotide variantNM_004782.4(SNAP29):c.105C>G (p.Pro35=)not provided [RCV003829947]likely benign222085921520859215Humanname
405075093CV3140716single nucleotide variantNM_004782.4(SNAP29):c.234C>T (p.Ser78=)not provided [RCV003833679]likely benign222085934420859344Humanname
405062480CV3148355single nucleotide variantNM_004782.4(SNAP29):c.279G>A (p.Lys93=)not provided [RCV003850311]likely benign222087037820870378Humanname
405061936CV3148383single nucleotide variantNM_004782.4(SNAP29):c.198C>T (p.Leu66=)not provided [RCV003850339]likely benign222085930820859308Humanname
405150171CV3152199single nucleotide variantNM_004782.4(SNAP29):c.285G>A (p.Val95=)not provided [RCV003856170]likely benign222087038420870384Humanname
11628704CV347128single nucleotide variantNM_004782.4(SNAP29):c.234C>G (p.Ser78=)CEDNIK syndrome [RCV000307751]|not provided [RCV000884370]|not specified [RCV000518801]benign|likely benign|uncertain significance222085934420859344Human1name
11630227CV352173single nucleotide variantNM_004782.4(SNAP29):c.240G>A (p.Glu80=)CEDNIK syndrome [RCV000343944]|not provided [RCV003765975]likely benign|uncertain significance222087033920870339Human1name
597836279CV3828400single nucleotide variantNM_004782.4(SNAP29):c.222G>A (p.Gly74=)not provided [RCV005171292]likely benign222085933220859332Humanname
127286935CV1152917single nucleotide variantNM_004782.4(SNAP29):c.51C>G (p.Asp17Glu)Inborn genetic diseases [RCV002564198]|not provided [RCV001507494]uncertain significance222085916120859161Human1name
127286936CV1152918single nucleotide variantNM_004782.4(SNAP29):c.58G>C (p.Ala20Pro)Inborn genetic diseases [RCV004037870]|not provided [RCV001507495]uncertain significance222085916820859168Human1name
150406537CV1195610single nucleotide variantNM_004782.4(SNAP29):c.91C>T (p.Leu31Phe)not provided [RCV001572046]uncertain significance222085920120859201Humanname
151752088CV1370461single nucleotide variantNM_004782.4(SNAP29):c.48G>T (p.Glu16Asp)not provided [RCV001894436]uncertain significance222085915820859158Humanname
151743801CV1404552single nucleotide variantNM_004782.4(SNAP29):c.80A>T (p.Asp27Val)not provided [RCV002022593]uncertain significance222085919020859190Humanname
151730601CV1517891single nucleotide variantNM_004782.4(SNAP29):c.37G>T (p.Asp13Tyr)CEDNIK syndrome [RCV002052433]uncertain significance222085914720859147Human1name
156434463CV1940049single nucleotide variantNM_004782.4(SNAP29):c.661C>T (p.Leu221=)not provided [RCV003104464]likely benign222088772020887720Humanname
156301907CV1955618single nucleotide variantNM_004782.4(SNAP29):c.81C>G (p.Asp27Glu)not provided [RCV002578263]uncertain significance222085919120859191Humanname
156333325CV1966667single nucleotide variantNM_004782.4(SNAP29):c.660C>T (p.Ala220=)not provided [RCV002600910]likely benign222088771920887719Humanname
156228590CV1991690single nucleotide variantNM_004782.4(SNAP29):c.71C>T (p.Pro24Leu)not provided [RCV002626709]uncertain significance222085918120859181Humanname
156120731CV2039507single nucleotide variantNM_004782.4(SNAP29):c.399A>G (p.Glu133=)not provided [RCV002800215]likely benign222087049820870498Humanname
156116296CV2182952single nucleotide variantNM_004782.4(SNAP29):c.300A>G (p.Gln100=)not provided [RCV003039139]likely benign222087039920870399Humanname
11051580CV226728deletionNM_004782.4(SNAP29):c.223del (p.Val75fs)CEDNIK syndrome [RCV000210470]pathogenic|likely pathogenic222085933020859330Human1name
11577937CV264774single nucleotide variantNM_004782.4(SNAP29):c.85C>T (p.Arg29Ter)not provided [RCV000270606]pathogenic222085919520859195Humanname
401925937CV2821985single nucleotide variantNM_004782.4(SNAP29):c.375C>A (p.Ser125=)not provided [RCV003437495]likely benign222087047420870474Humanname
401925939CV2821986single nucleotide variantNM_004782.4(SNAP29):c.384A>G (p.Val128=)not provided [RCV003437496]likely benign222087048320870483Humanname
405191183CV2871371single nucleotide variantNM_004782.4(SNAP29):c.426C>G (p.Pro142=)not provided [RCV003550389]likely benign222087052520870525Humanname
405178914CV2913004single nucleotide variantNM_004782.4(SNAP29):c.306G>A (p.Leu102=)not provided [RCV003563709]likely benign222087040520870405Humanname
405189842CV2924600deletionNM_004782.4(SNAP29):c.234del (p.Glu79fs)not provided [RCV003564805]pathogenic222085934320859343Humanname
405194184CV2925432single nucleotide variantNM_004782.4(SNAP29):c.345G>A (p.Val115=)not provided [RCV003565065]likely benign222087044420870444Humanname
405036359CV2932744single nucleotide variantNM_004782.4(SNAP29):c.516T>C (p.Asp172=)not provided [RCV003578734]likely benign222088113020881130Humanname
402505499CV2933555single nucleotide variantNM_004782.4(SNAP29):c.603G>A (p.Lys201=)not provided [RCV003574309]likely benign222088355320883553Humanname
405137104CV2958151single nucleotide variantNM_004782.4(SNAP29):c.453T>C (p.Ser151=)not provided [RCV003672845]likely benign222088106720881067Humanname
405164369CV2960533single nucleotide variantNM_004782.4(SNAP29):c.354G>T (p.Gly118=)not provided [RCV003674856]likely benign222087045320870453Humanname
405017485CV2991648single nucleotide variantNM_004782.4(SNAP29):c.558T>C (p.Thr186=)not provided [RCV003694459]likely benign222088350820883508Humanname
402492933CV3008248single nucleotide variantNM_004782.4(SNAP29):c.564T>C (p.Ala188=)not provided [RCV003687638]likely benign222088351420883514Humanname
405167460CV3018974single nucleotide variantNM_004782.4(SNAP29):c.768A>T (p.Arg256=)not provided [RCV003704377]likely benign222088782720887827Humanname
405171566CV3025772single nucleotide variantNM_004782.4(SNAP29):c.549C>T (p.Ala183=)not provided [RCV003704656]likely benign222088349920883499Humanname
405143403CV3027194deletionNM_004782.4(SNAP29):c.108del (p.Asp36fs)not provided [RCV003702716]pathogenic222085921820859218Humanname
405139136CV3028904single nucleotide variantNM_004782.4(SNAP29):c.438G>A (p.Leu146=)not provided [RCV003702214]likely benign222088105220881052Humanname
405218199CV3048931single nucleotide variantNM_004782.4(SNAP29):c.606C>A (p.Ile202=)not provided [RCV003732881]likely benign222088355620883556Humanname
405244079CV3053935single nucleotide variantNM_004782.4(SNAP29):c.414C>T (p.Leu138=)not provided [RCV003719829]likely benign222087051320870513Humanname
405208322CV3117092single nucleotide variantNM_004782.4(SNAP29):c.642T>C (p.Gly214=)not provided [RCV003822879]likely benign222088770120887701Humanname
405182470CV3120009single nucleotide variantNM_004782.4(SNAP29):c.597C>T (p.His199=)not provided [RCV003820102]likely benign222088354720883547Humanname
405121356CV3131508single nucleotide variantNM_004782.4(SNAP29):c.666G>A (p.Gly222=)not provided [RCV003837372]likely benign222088772520887725Humanname
404995656CV3132589single nucleotide variantNM_004782.4(SNAP29):c.405T>C (p.Asn135=)not provided [RCV003827528]likely benign222087050420870504Humanname
405206722CV3161952single nucleotide variantNM_004782.4(SNAP29):c.468G>A (p.Gln156=)not provided [RCV003861446]likely benign222088108220881082Humanname
405194461CV3167597single nucleotide variantNM_004782.4(SNAP29):c.771A>G (p.Gln257=)not provided [RCV003860003]likely benign222088783020887830Humanname
405194526CV3167609single nucleotide variantNM_004782.4(SNAP29):c.705C>T (p.Asp235=)not provided [RCV003860015]likely benign222088776420887764Humanname
402464158CV3172543single nucleotide variantNM_004782.4(SNAP29):c.354G>A (p.Gly118=)not provided [RCV003872481]likely benign222087045320870453Humanname
405230923CV3180929single nucleotide variantNM_004782.4(SNAP29):c.354G>C (p.Gly118=)not provided [RCV003865167]likely benign222087045320870453Humanname
402509365CV3182088single nucleotide variantNM_004782.4(SNAP29):c.436T>C (p.Leu146=)not provided [RCV003878741]likely benign222088105020881050Humanname
597914827CV3740624single nucleotide variantNM_004782.4(SNAP29):c.44G>A (p.Gly15Glu)not provided [RCV005073961]uncertain significance222085915420859154Humanname
597864608CV3814246single nucleotide variantNM_004782.4(SNAP29):c.723G>A (p.Val241=)not provided [RCV005147315]likely benign222088778220887782Humanname
598170837CV3915329single nucleotide variantNM_004782.4(SNAP29):c.97G>C (p.Asp33His)Inborn genetic diseases [RCV005284696]uncertain significance222085920720859207Human1name
598170847CV3915332single nucleotide variantNM_004782.4(SNAP29):c.40G>C (p.Asp14His)Inborn genetic diseases [RCV005284699]uncertain significance222085915020859150Human1name
616934196CV4012183single nucleotide variantNM_004782.4(SNAP29):c.85C>G (p.Arg29Gly)not specified [RCV005409217]uncertain significance222085919520859195Humanname
15147273CV742771single nucleotide variantNM_004782.4(SNAP29):c.375C>T (p.Ser125=)not provided [RCV000900484]likely benign222087047420870474Humanname
8637570CV92796single nucleotide variantNM_004782.3(SNAP29):c.606C>T (p.Ile202=)Malignant melanoma [RCV000072894]not provided222088355620883556Humanname
127286938CV1152919single nucleotide variantNM_004782.4(SNAP29):c.145G>A (p.Val49Ile)not provided [RCV001507496]uncertain significance222085925520859255Humanname
150549531CV1295300single nucleotide variantNM_004782.4(SNAP29):c.280A>T (p.Met94Leu)not provided [RCV001765200]uncertain significance222087037920870379Humanname
150554840CV1304584single nucleotide variantNM_004782.4(SNAP29):c.122G>A (p.Arg41Lys)Inborn genetic diseases [RCV002544145]|not provided [RCV001771554]uncertain significance222085923220859232Human1name
151351370CV1323519single nucleotide variantNM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)CEDNIK syndrome [RCV001806375]likely pathogenic222085922820859228Human1name
151355822CV1327006single nucleotide variantNM_004782.4(SNAP29):c.149T>C (p.Leu50Pro)not specified [RCV001822175]uncertain significance222085925920859259Humanname
151355902CV1327085single nucleotide variantNM_004782.4(SNAP29):c.131A>G (p.Tyr44Cys)Inborn genetic diseases [RCV004040959]|not provided [RCV001869657]|not specified [RCV001822255]uncertain significance222085924120859241Human1name
151776952CV1379226single nucleotide variantNM_004782.4(SNAP29):c.289A>G (p.Lys97Glu)not provided [RCV001896881]uncertain significance222087038820870388Humanname
151893386CV1461341single nucleotide variantNM_004782.4(SNAP29):c.206A>G (p.Glu69Gly)Inborn genetic diseases [RCV003167161]|not provided [RCV001944988]uncertain significance222085931620859316Human1name
155986090CV1907696single nucleotide variantNM_004782.4(SNAP29):c.254G>A (p.Arg85Gln)Inborn genetic diseases [RCV003274244]|not provided [RCV003097608]uncertain significance222087035320870353Human1name
156418445CV1911119single nucleotide variantNM_004782.4(SNAP29):c.103C>T (p.Pro35Ser)Inborn genetic diseases [RCV003349054]|not provided [RCV002611638]uncertain significance222085921320859213Human1name
156449892CV1938453single nucleotide variantNM_004782.4(SNAP29):c.247C>T (p.Arg83Cys)Inborn genetic diseases [RCV005281357]|not provided [RCV003122023]uncertain significance222087034620870346Human1name
155939320CV1948170single nucleotide variantNM_004782.4(SNAP29):c.140A>C (p.Gln47Pro)Inborn genetic diseases [RCV002729949]|not provided [RCV003111761]uncertain significance222085925020859250Human1name
156016906CV2010392single nucleotide variantNM_004782.4(SNAP29):c.149T>A (p.Leu50His)not provided [RCV002735188]uncertain significance222085925920859259Humanname
156350946CV2018856single nucleotide variantNM_004782.4(SNAP29):c.157G>A (p.Ala53Thr)not provided [RCV002720176]uncertain significance222085926720859267Humanname
156214014CV2028558single nucleotide variantNM_004782.4(SNAP29):c.146T>G (p.Val49Gly)not provided [RCV002711876]uncertain significance222085925620859256Humanname
156010314CV2075517single nucleotide variantNM_004782.4(SNAP29):c.269G>T (p.Arg90Leu)not provided [RCV002843836]uncertain significance222087036820870368Humanname
156389242CV2122294single nucleotide variantNM_004782.4(SNAP29):c.142G>A (p.Glu48Lys)not provided [RCV002943732]uncertain significance222085925220859252Humanname
11350964CV237070single nucleotide variantNM_004782.4(SNAP29):c.265G>A (p.Glu89Lys)CEDNIK syndrome [RCV001149421]|SNAP29-related disorder [RCV003929927]|not provided [RCV000224707]benign|likely benign222087036420870364Human1name , trait , alternate_id
11632728CV264778duplicationNM_004782.4(SNAP29):c.354dup (p.Leu119fs)CEDNIK syndrome [RCV000778648]|Hypomyelinating leukodystrophy 2 [RCV000454232]|Inborn genetic diseases [RCV002519036]|not provided [RCV000280604]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance222087044720870448Human3name
402483063CV2860703single nucleotide variantNM_004782.4(SNAP29):c.235G>T (p.Glu79Ter)not provided [RCV003544195]pathogenic222085934520859345Humanname
402524813CV2868268single nucleotide variantNM_004782.4(SNAP29):c.139C>T (p.Gln47Ter)not provided [RCV003547971]pathogenic222085924920859249Humanname
405071827CV3034441duplicationNM_004782.4(SNAP29):c.538dup (p.Ala180fs)not provided [RCV003698367]pathogenic222088348420883485Humanname
405124623CV3043394single nucleotide variantNM_004782.4(SNAP29):c.253C>T (p.Arg85Ter)CEDNIK syndrome [RCV005030218]|not provided [RCV003724248]pathogenic|likely pathogenic222087035220870352Human1name
11632337CV347125single nucleotide variantNM_004782.4(SNAP29):c.130T>C (p.Tyr44His)CEDNIK syndrome [RCV000405531]|not provided [RCV000974375]|not specified [RCV000516649]benign|likely benign222085924020859240Human1name
407503511CV3474551single nucleotide variantNM_004782.4(SNAP29):c.239A>C (p.Glu80Ala)Inborn genetic diseases [RCV004670262]uncertain significance222087033820870338Human1name
408367097CV3512408single nucleotide variantNM_004782.4(SNAP29):c.193G>A (p.Ala65Thr)SNAP29-related disorder [RCV004757793]uncertain significance222085930320859303Humanname , trait , alternate_id
597667754CV3727018single nucleotide variantNM_004782.4(SNAP29):c.265G>T (p.Glu89Ter)CEDNIK syndrome [RCV005029271]likely pathogenic222087036420870364Human1name
597889710CV3804874single nucleotide variantNM_004782.4(SNAP29):c.216G>T (p.Lys72Asn)not provided [RCV005151136]uncertain significance222085932620859326Humanname
598170833CV3915328single nucleotide variantNM_004782.4(SNAP29):c.167C>T (p.Thr56Met)Inborn genetic diseases [RCV005284695]uncertain significance222085927720859277Human1name
598170840CV3915330single nucleotide variantNM_004782.4(SNAP29):c.107A>G (p.Asp36Gly)Inborn genetic diseases [RCV005284697]uncertain significance222085921720859217Human1name
598170843CV3915331single nucleotide variantNM_004782.4(SNAP29):c.152G>T (p.Arg51Leu)Inborn genetic diseases [RCV005284698]uncertain significance222085926220859262Human1name
13481435CV442346single nucleotide variantNM_004782.4(SNAP29):c.193G>C (p.Ala65Pro)not provided [RCV000517574]uncertain significance222085930320859303Humanname
8654931CV59436duplicationNM_004782.4(SNAP29):c.487dup (p.Ser163fs)CEDNIK syndrome [RCV000043503]|not provided [RCV000727658]pathogenic222088110020881101Human1name
14396155CV611919single nucleotide variantNM_004782.4(SNAP29):c.250C>T (p.Gln84Ter)not provided [RCV000760891]pathogenic222087034920870349Humanname
15180449CV717332single nucleotide variantNM_004782.4(SNAP29):c.113C>T (p.Pro38Leu)not provided [RCV000974156]likely benign222085922320859223Humanname
21068270CV798063single nucleotide variantNM_004782.4(SNAP29):c.214A>G (p.Lys72Glu)not provided [RCV000997872]uncertain significance222085932420859324Humanname
28880757CV890884single nucleotide variantNM_004782.4(SNAP29):c.199A>G (p.Met67Val)CEDNIK syndrome [RCV001149418]uncertain significance222085930920859309Human1name
150548703CV1294466single nucleotide variantNM_004782.4(SNAP29):c.623A>T (p.Glu208Val)SNAP29-related disorder [RCV003931314]|not provided [RCV001751958]likely benign|uncertain significance222088768220887682Human1name , trait , alternate_id
150545809CV1297618single nucleotide variantNM_004782.4(SNAP29):c.695A>G (p.Asp232Gly)not provided [RCV001763206]uncertain significance222088775420887754Humanname
153303402CV1686210single nucleotide variantNM_004782.4(SNAP29):c.318G>C (p.Gln106His)not provided [RCV002261643]uncertain significance222087041720870417Humanname
156073515CV1989210single nucleotide variantNM_004782.4(SNAP29):c.586C>T (p.Arg196Ter)CEDNIK syndrome [RCV005025918]|not provided [RCV002638672]likely pathogenic|uncertain significance222088353620883536Human1name
156403875CV1989767single nucleotide variantNM_004782.4(SNAP29):c.401A>C (p.Gln134Pro)not provided [RCV002657927]uncertain significance222087050020870500Humanname
156284171CV2001585single nucleotide variantNM_004782.4(SNAP29):c.320A>G (p.Lys107Arg)not provided [RCV002646946]uncertain significance222087041920870419Humanname
156320671CV2111988single nucleotide variantNM_004782.4(SNAP29):c.766C>T (p.Arg256Ter)not provided [RCV002937729]uncertain significance222088782520887825Humanname
156231491CV2112144single nucleotide variantNM_004782.4(SNAP29):c.521A>G (p.Asp174Gly)not provided [RCV002918952]uncertain significance222088347120883471Humanname
156239888CV2115906single nucleotide variantNM_004782.4(SNAP29):c.445G>A (p.Ala149Thr)not provided [RCV002919259]uncertain significance222088105920881059Humanname
156139943CV2162156single nucleotide variantNM_004782.4(SNAP29):c.767G>A (p.Arg256Gln)not provided [RCV003022485]uncertain significance222088782620887826Humanname
155955266CV2166493single nucleotide variantNM_004782.4(SNAP29):c.560A>G (p.Asp187Gly)not provided [RCV003015065]uncertain significance222088351020883510Humanname
155921767CV2240576single nucleotide variantNM_004782.4(SNAP29):c.715A>C (p.Thr239Pro)Inborn genetic diseases [RCV002773099]uncertain significance222088777420887774Human1name
156254207CV2264633single nucleotide variantNM_004782.4(SNAP29):c.644G>A (p.Arg215His)Inborn genetic diseases [RCV002831306]uncertain significance222088770320887703Human1name
156170795CV2337467single nucleotide variantNM_004782.4(SNAP29):c.343G>A (p.Val115Met)Inborn genetic diseases [RCV002955823]uncertain significance222087044220870442Human1name
11350945CV236972single nucleotide variantNM_004782.4(SNAP29):c.487A>G (p.Ser163Gly)CEDNIK syndrome [RCV000402480]|not provided [RCV000224672]benign|likely benign222088110120881101Human1name
156098921CV2370837single nucleotide variantNM_004782.4(SNAP29):c.692A>G (p.Asp231Gly)Inborn genetic diseases [RCV002661841]uncertain significance222088775120887751Human1name
401776155CV2706905single nucleotide variantNM_004782.4(SNAP29):c.632T>C (p.Met211Thr)Inborn genetic diseases [RCV003263136]uncertain significance222088769120887691Human1name
405188447CV2917851single nucleotide variantNM_004782.4(SNAP29):c.466C>T (p.Gln156Ter)not provided [RCV003564656]pathogenic222088108020881080Humanname
405714119CV3326089single nucleotide variantNM_004782.4(SNAP29):c.389C>G (p.Thr130Ser)Inborn genetic diseases [RCV004462232]uncertain significance222087048820870488Human1name
405714124CV3326090single nucleotide variantNM_004782.4(SNAP29):c.573G>T (p.Lys191Asn)Inborn genetic diseases [RCV004462233]uncertain significance222088352320883523Human1name
405714130CV3326091single nucleotide variantNM_004782.4(SNAP29):c.655A>G (p.Ile219Val)Inborn genetic diseases [RCV004462234]uncertain significance222088771420887714Human1name
11623082CV337555single nucleotide variantNM_004782.4(SNAP29):c.550A>G (p.Met184Val)CEDNIK syndrome [RCV000367997]|Inborn genetic diseases [RCV003243096]likely benign|uncertain significance222088350020883500Human2name
11653041CV347129single nucleotide variantNM_004782.4(SNAP29):c.502A>G (p.Arg168Gly)CEDNIK syndrome [RCV000308681]uncertain significance222088111620881116Human1name
11626994CV347133single nucleotide variantNM_004782.4(SNAP29):c.580C>T (p.His194Tyr)CEDNIK syndrome [RCV000273351]uncertain significance222088353020883530Human1name
11629048CV351156single nucleotide variantNM_004782.4(SNAP29):c.643C>T (p.Arg215Cys)CEDNIK syndrome [RCV000314485]|Inborn genetic diseases [RCV003278778]uncertain significance222088770220887702Human2name
597730023CV3597410single nucleotide variantNM_004782.4(SNAP29):c.341G>A (p.Ser114Asn)Inborn genetic diseases [RCV004963850]uncertain significance222087044020870440Human1name
598170827CV3915326single nucleotide variantNM_004782.4(SNAP29):c.515A>C (p.Asp172Ala)Inborn genetic diseases [RCV005284693]uncertain significance222088112920881129Human1name
598170831CV3915327single nucleotide variantNM_004782.4(SNAP29):c.448A>G (p.Ile150Val)Inborn genetic diseases [RCV005284694]uncertain significance222088106220881062Human1name
598170850CV3915333single nucleotide variantNM_004782.4(SNAP29):c.614A>G (p.Asn205Ser)Inborn genetic diseases [RCV005284700]uncertain significance222088356420883564Human1name
12893303CV410919single nucleotide variantNM_004782.4(SNAP29):c.622G>T (p.Glu208Ter)CEDNIK syndrome [RCV002251743]|not provided [RCV000478546]pathogenic|likely pathogenic222088768120887681Human1name
13214045CV430552single nucleotide variantNM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)SNAP29-related disorder [RCV003960183]|not provided [RCV001507497]|not specified [RCV000500650]likely benign|conflicting interpretations of pathogenicity|uncertain significance222088768820887688Human1name , trait , alternate_id
28869901CV890885single nucleotide variantNM_004782.4(SNAP29):c.518C>G (p.Thr173Arg)CEDNIK syndrome [RCV001145128]|not provided [RCV002557108]uncertain significance222088113220881132Human1name
28869907CV890886single nucleotide variantNM_004782.4(SNAP29):c.607G>A (p.Asp203Asn)CEDNIK syndrome [RCV001145130]|not provided [RCV001760102]uncertain significance222088355720883557Human1name
28874167CV890887single nucleotide variantNM_004782.4(SNAP29):c.697A>G (p.Ile233Val)CEDNIK syndrome [RCV001147087]uncertain significance222088775620887756Human1name
405139330CV3029706deletionNM_004782.4(SNAP29):c.247_248del (p.Arg83fs)not provided [RCV003702372]pathogenic222087034620870347Humanname
28895361CV860702deletionNM_004782.4(SNAP29):c.365_368del (p.Tyr122fs)not provided [RCV001092752]pathogenic|likely pathogenic222087046220870465Humanname