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


465 records found for search term Vac14
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150472473CV1259301single nucleotide variantNM_018052.5(VAC14):c.-17T>Cnot provided [RCV001684547]benign167080091770800917Humanname
150462013CV1214584single nucleotide variantNM_018052.5(VAC14):c.947-3C>TVAC14-related disorder [RCV003921261]|not provided [RCV001613577]benign167078094270780942Human1name , trait , alternate_id
151846827CV1513016single nucleotide variantNM_018052.5(VAC14):c.423+6C>TInborn genetic diseases [RCV002552844]|VAC14-related disorder [RCV003911071]|not provided [RCV001922231]likely benign|uncertain significance167078569670785696Human2name , trait , alternate_id
152090802CV1525674single nucleotide variantNM_018052.5(VAC14):c.705-7T>Cnot provided [RCV002150563]likely benign167078314670783146Humanname
152090122CV1535863single nucleotide variantNM_018052.5(VAC14):c.424-9C>Tnot provided [RCV002150483]likely benign167078484770784847Humanname
152044713CV1590585single nucleotide variantNM_018052.5(VAC14):c.423+7G>Anot provided [RCV002108203]likely benign167078569570785695Humanname
155798865CV1862205single nucleotide variantNM_018052.5(VAC14):c.104+2T>GStriatonigral degeneration, childhood-onset [RCV002471609]likely pathogenic167080079570800795Human1name
156021884CV1899313single nucleotide variantNM_018052.5(VAC14):c.947-9T>Cnot provided [RCV003100238]likely benign167078094870780948Humanname
156026570CV1917740single nucleotide variantNM_018052.5(VAC14):c.104+7G>Tnot provided [RCV002619658]likely benign167080079070800790Humanname
156087687CV1919589single nucleotide variantNM_018052.5(VAC14):c.423+8C>Anot provided [RCV002591797]likely benign167078569470785694Humanname
156434671CV1940154single nucleotide variantNM_018052.5(VAC14):c.423+5C>Tnot provided [RCV003104569]uncertain significance167078569770785697Humanname
156069263CV1971721single nucleotide variantNM_018052.5(VAC14):c.595-8C>Gnot provided [RCV002591223]likely benign167078356270783562Humanname
156095897CV1980918single nucleotide variantNM_018052.5(VAC14):c.255+4G>Anot provided [RCV002622028]uncertain significance167078621170786211Humanname
156391271CV1990155single nucleotide variantNM_018052.5(VAC14):c.947-2A>Gnot provided [RCV002604688]|not specified [RCV003230753]likely pathogenic|uncertain significance167078094170780941Humanname
156271310CV2004136deletionNM_018052.5(VAC14):c.595-7delnot provided [RCV002646540]likely benign167078356170783561Humanname
156354177CV2066224single nucleotide variantNM_018052.5(VAC14):c.487-9G>Tnot provided [RCV002812009]likely benign167078422970784229Humanname
155970653CV2079196single nucleotide variantNM_018052.5(VAC14):c.256-7C>Gnot provided [RCV002881470]likely benign167078587670785876Humanname
156307515CV2079890single nucleotide variantNM_018052.5(VAC14):c.595-9C>Tnot provided [RCV002857481]likely benign167078356370783563Humanname
156389490CV2122319single nucleotide variantNM_018052.5(VAC14):c.811+8T>Cnot provided [RCV002943753]likely benign167078302570783025Humanname
405066344CV2879220single nucleotide variantNM_018052.5(VAC14):c.423+8C>Gnot provided [RCV003548259]likely benign167078569470785694Humanname
402518551CV3003465single nucleotide variantNM_018052.5(VAC14):c.487-5C>Anot provided [RCV003716256]likely benign167078422570784225Humanname
405175897CV3119257single nucleotide variantNM_018052.5(VAC14):c.104+7G>Anot provided [RCV003819542]likely benign167080079070800790Humanname
597931807CV3789503single nucleotide variantNM_018052.5(VAC14):c.812-8C>Tnot provided [RCV005131784]likely benign167078201170782011Humanname
13509355CV482105single nucleotide variantNM_018052.5(VAC14):c.486+3A>Gnot provided [RCV000579348]likely pathogenic167078477370784773Humanname
150335033CV1172888single nucleotide variantNM_018052.5(VAC14):c.594+34C>Anot provided [RCV001540368]benign167078407970784079Humanname
150511019CV1210655single nucleotide variantNM_018052.5(VAC14):c.424-18T>CStriatonigral degeneration, childhood-onset [RCV002243317]|not provided [RCV001597834]benign167078485670784856Human3name
150511019CV1210655single nucleotide variantNM_018052.5(VAC14):c.424-18T>CStriatonigral degeneration, childhood-onset [RCV002243317]|not provided [RCV001597834]benign167078485670784857Human3name
150448481CV1214981single nucleotide variantNM_018052.5(VAC14):c.255+57C>Tnot provided [RCV001611570]benign167078615870786158Humanname
150434694CV1215953single nucleotide variantNM_018052.5(VAC14):c.595-44G>Anot provided [RCV001609142]benign167078359870783598Humanname
150460938CV1253179single nucleotide variantNM_018052.5(VAC14):c.811+43G>AStriatonigral degeneration, childhood-onset [RCV002243383]|not provided [RCV001669508]benign167078299070782990Human1name
150453504CV1260523single nucleotide variantNM_018052.5(VAC14):c.1306-7C>TStriatonigral degeneration, childhood-onset [RCV002243406]|not provided [RCV001681015]benign167076261270762612Human1name
150440738CV1266962single nucleotide variantNM_018052.5(VAC14):c.486+50C>Anot provided [RCV001690398]benign167078472670784726Humanname
150447798CV1278371single nucleotide variantNM_018052.5(VAC14):c.704+52G>Anot provided [RCV001707885]benign167078339370783393Humanname
151734523CV1501189single nucleotide variantNM_018052.5(VAC14):c.2187-9T>Anot provided [RCV002005131]likely benign|uncertain significance167068809970688099Humanname
152107872CV1529911single nucleotide variantNM_018052.5(VAC14):c.2187-6T>Cnot provided [RCV002196392]likely benign167068809670688096Humanname
152149055CV1545324single nucleotide variantNM_018052.5(VAC14):c.2035+7A>Cnot provided [RCV002121488]likely benign167069553770695537Humanname
152116825CV1553543single nucleotide variantNM_018052.5(VAC14):c.1529-9T>Cnot provided [RCV002081005]benign167073163670731636Humanname
152168375CV1558657single nucleotide variantNM_018052.5(VAC14):c.812-16C>Tnot provided [RCV002142421]likely benign167078201970782019Humanname
152077907CV1561027single nucleotide variantNM_018052.5(VAC14):c.1956-6A>Gnot provided [RCV002112356]likely benign167069562970695629Humanname
152167679CV1577510single nucleotide variantNM_018052.5(VAC14):c.105-19C>Gnot provided [RCV002204771]likely benign167078638470786384Humanname
152146015CV1582749single nucleotide variantNM_018052.5(VAC14):c.947-18T>Gnot provided [RCV002201251]likely benign167078095770780957Humanname
152096433CV1597490single nucleotide variantNM_018052.5(VAC14):c.594+13C>Tnot provided [RCV002114759]likely benign167078410070784100Humanname
152172499CV1599153single nucleotide variantNM_018052.5(VAC14):c.487-14C>Tnot provided [RCV002143798]benign167078423470784234Humanname
152105992CV1612703duplicationNM_018052.5(VAC14):c.105-19dupnot provided [RCV002173723]benign167078638370786384Humanname
152036722CV1617830single nucleotide variantNM_018052.5(VAC14):c.104+20C>Tnot provided [RCV002125456]likely benign167080077770800777Humanname
152149627CV1622512single nucleotide variantNM_018052.5(VAC14):c.104+10G>Tnot provided [RCV002220598]benign167080078770800787Humanname
152085725CV1645257single nucleotide variantNM_018052.5(VAC14):c.105-18T>Gnot provided [RCV002131402]likely benign167078638370786383Humanname
152174238CV1662620single nucleotide variantNM_018052.5(VAC14):c.486+19C>Tnot provided [RCV002163086]likely benign167078475770784757Humanname
156328926CV1953230single nucleotide variantNM_018052.5(VAC14):c.947-14A>Gnot provided [RCV002579884]likely benign167078095370780953Humanname
156414758CV1954903single nucleotide variantNM_018052.5(VAC14):c.594+20C>Tnot provided [RCV002588791]likely benign167078409370784093Humanname
156408428CV1957840single nucleotide variantNM_018052.5(VAC14):c.487-19A>Cnot provided [RCV002586515]likely benign167078423970784239Humanname
156266258CV1960880single nucleotide variantNM_018052.5(VAC14):c.705-16C>Gnot provided [RCV002577015]likely benign167078315570783155Humanname
156186598CV1964727single nucleotide variantNM_018052.5(VAC14):c.704+12A>Gnot provided [RCV002574278]likely benign167078343370783433Humanname
156248932CV1969662single nucleotide variantNM_018052.5(VAC14):c.424-20C>Anot provided [RCV002597404]likely benign167078485870784858Humanname
156258433CV1977437single nucleotide variantNM_018052.5(VAC14):c.594+14G>Anot provided [RCV002597699]likely benign167078409970784099Humanname
156111279CV1988779single nucleotide variantNM_018052.5(VAC14):c.811+12G>Cnot provided [RCV002622587]likely benign167078302170783021Humanname
156331215CV2004419single nucleotide variantNM_018052.5(VAC14):c.486+12T>Gnot provided [RCV002649828]likely benign167078476470784764Humanname
156348022CV2005328single nucleotide variantNM_018052.5(VAC14):c.704+15G>Anot provided [RCV002650677]likely benign167078343070783430Humanname
156216811CV2081710single nucleotide variantNM_018052.5(VAC14):c.704+10G>Anot provided [RCV002894024]likely benign167078343570783435Humanname
155903866CV2127143single nucleotide variantNM_018052.5(VAC14):c.2186+9C>Tnot provided [RCV002967588]likely benign167069281270692812Humanname
155957824CV2159287single nucleotide variantNM_018052.5(VAC14):c.255+14C>Tnot provided [RCV003015202]likely benign167078620170786201Humanname
156009413CV2159910single nucleotide variantNM_018052.5(VAC14):c.704+10G>Tnot provided [RCV003017661]likely benign167078343570783435Humanname
11531319CV247553single nucleotide variantNM_018052.5(VAC14):c.1528+1G>AStriatonigral degeneration, childhood-onset [RCV000239487]pathogenic167074442270744422Human1name
405081345CV2864794single nucleotide variantNM_018052.5(VAC14):c.255+11C>Tnot provided [RCV003549256]likely benign167078620470786204Humanname
405029976CV2926105single nucleotide variantNM_018052.5(VAC14):c.811+14G>Anot provided [RCV003578287]likely benign167078301970783019Humanname
402484023CV2937523deletionNM_018052.5(VAC14):c.812-15delnot provided [RCV003659810]likely benign167078201870782018Humanname
402502969CV2937707single nucleotide variantNM_018052.5(VAC14):c.104+17C>Tnot provided [RCV003661775]likely benign167080078070800780Humanname
405233656CV2965465single nucleotide variantNM_018052.5(VAC14):c.1161-5C>Anot provided [RCV003682602]likely benign167076303070763030Humanname
402498782CV3038273single nucleotide variantNM_018052.5(VAC14):c.487-11C>Gnot provided [RCV003714525]likely benign167078423170784231Humanname
405087555CV3047900single nucleotide variantNM_018052.5(VAC14):c.1097-4C>Anot provided [RCV003717581]likely benign167077217670772176Humanname
405228526CV3065846single nucleotide variantNM_018052.5(VAC14):c.1661+7C>Tnot provided [RCV003734484]likely benign167073148870731488Humanname
405216757CV3143433single nucleotide variantNM_018052.5(VAC14):c.705-11C>Anot provided [RCV003846597]likely benign167078315070783150Humanname
405180472CV3147465single nucleotide variantNM_018052.5(VAC14):c.424-19C>Gnot provided [RCV003842367]likely benign167078485770784857Humanname
405178273CV3151077single nucleotide variantNM_018052.5(VAC14):c.1837-7C>Tnot provided [RCV003842161]likely benign167069726470697264Humanname
405223851CV3151220single nucleotide variantNM_018052.5(VAC14):c.423+15C>Tnot provided [RCV003847645]likely benign167078568770785687Humanname
405084263CV3167245single nucleotide variantNM_018052.5(VAC14):c.487-13C>Tnot provided [RCV003851826]likely benign167078423370784233Humanname
597843940CV3736058single nucleotide variantNM_018052.5(VAC14):c.705-17C>Anot provided [RCV005065406]likely benign167078315670783156Humanname
597866096CV3742412single nucleotide variantNM_018052.5(VAC14):c.1305+5G>Anot provided [RCV005068028]uncertain significance167076287670762876Humanname
597917250CV3811135single nucleotide variantNM_018052.5(VAC14):c.812-20C>Tnot provided [RCV005155170]likely benign167078202370782023Humanname
597953217CV3815965single nucleotide variantNM_018052.5(VAC14):c.1160+8G>Anot provided [RCV005161717]likely benign167077210170772101Humanname
597959686CV3843429single nucleotide variantNM_018052.5(VAC14):c.1096+1G>Cnot provided [RCV005192464]pathogenic167078078970780789Humanname
15125951CV760469single nucleotide variantNM_018052.5(VAC14):c.1529-4A>Gnot provided [RCV000919243]benign167073163170731631Humanname
15161984CV760473single nucleotide variantNM_018052.5(VAC14):c.1372-5C>TVAC14-related disorder [RCV003925781]|not provided [RCV000925798]likely benign167074458470744584Human1name , trait , alternate_id
15157422CV779900single nucleotide variantNM_018052.5(VAC14):c.1836+9C>Tnot provided [RCV000969304]benign167069862870698628Humanname
15136666CV788066single nucleotide variantNM_018052.5(VAC14):c.1097-9C>Tnot provided [RCV000982153]likely benign167077218170772181Humanname
150331914CV1163624single nucleotide variantNM_018052.5(VAC14):c.1836+57C>Tnot provided [RCV001528001]benign167069858070698580Humanname
150336486CV1172887single nucleotide variantNM_018052.5(VAC14):c.1306-27G>AStriatonigral degeneration, childhood-onset [RCV002243299]|not provided [RCV001541010]benign167076263270762632Human1name
150445667CV1215533single nucleotide variantNM_018052.5(VAC14):c.2186+29C>Tnot provided [RCV001611126]benign167069279270692792Humanname
150515083CV1217374single nucleotide variantNM_018052.5(VAC14):c.946+227C>Tnot provided [RCV001608278]benign167078164270781642Humanname
150515557CV1217532single nucleotide variantNM_018052.5(VAC14):c.1161-30C>Tnot provided [RCV001608438]benign167076305570763055Humanname
150498533CV1224153single nucleotide variantNM_018052.5(VAC14):c.812-223G>Anot provided [RCV001620266]benign167078222670782226Humanname
150508637CV1229694single nucleotide variantNM_018052.5(VAC14):c.947-185C>Tnot provided [RCV001636272]benign167078112470781124Humanname
150430252CV1232083single nucleotide variantNM_018052.5(VAC14):c.705-133A>Gnot provided [RCV001641345]benign167078327270783272Humanname
150507271CV1256891single nucleotide variantNM_018052.5(VAC14):c.2036-66C>Gnot provided [RCV001678394]benign167069303770693037Humanname
150470964CV1258706single nucleotide variantNM_018052.5(VAC14):c.594+224C>Anot provided [RCV001684252]benign167078388970783889Humanname
150462840CV1263718single nucleotide variantNM_018052.5(VAC14):c.1836+48G>Anot provided [RCV001682419]benign167069858970698589Humanname
150491357CV1267763single nucleotide variantNM_018052.5(VAC14):c.1662-47C>GStriatonigral degeneration, childhood-onset [RCV002243413]|not provided [RCV001687788]benign167069885870698858Human1name
150476110CV1271287single nucleotide variantNM_018052.5(VAC14):c.1371+27A>Tnot provided [RCV001696110]benign167076251370762513Humanname
150511811CV1284789single nucleotide variantNM_018052.5(VAC14):c.946+142A>Cnot provided [RCV001721658]benign167078172770781727Humanname
152102549CV1523919single nucleotide variantNM_018052.5(VAC14):c.947-366G>Anot provided [RCV002133448]benign167078130570781305Humanname
152083954CV1525415single nucleotide variantNM_018052.5(VAC14):c.1528+15G>Anot provided [RCV002131188]likely benign167074440870744408Humanname
152141550CV1532944single nucleotide variantNM_018052.5(VAC14):c.1955+18G>Anot provided [RCV002156837]benign167069712170697121Humanname
152162722CV1537330single nucleotide variantNM_018052.5(VAC14):c.1836+13C>Tnot provided [RCV002159932]likely benign167069862470698624Humanname
152164083CV1560441single nucleotide variantNM_018052.5(VAC14):c.1529-11T>Cnot provided [RCV002160176]likely benign167073163870731638Humanname
152086655CV1571441single nucleotide variantNM_018052.5(VAC14):c.1371+13C>Tnot provided [RCV002131512]likely benign167076252770762527Humanname
152164881CV1588784single nucleotide variantNM_018052.5(VAC14):c.1305+13C>Gnot provided [RCV002181623]likely benign167076286870762868Humanname
152168808CV1598164single nucleotide variantNM_018052.5(VAC14):c.1837-12G>Anot provided [RCV002142572]likely benign167069726970697269Humanname
152092846CV1603087single nucleotide variantNM_018052.5(VAC14):c.1661+18G>Anot provided [RCV002194518]likely benign167073147770731477Humanname
152102643CV1605960single nucleotide variantNM_018052.5(VAC14):c.2186+10G>Anot provided [RCV002095732]benign167069281170692811Humanname
152041294CV1617861single nucleotide variantNM_018052.5(VAC14):c.1371+12A>Tnot provided [RCV002206379]likely benign167076252870762528Humanname
152163777CV1619092single nucleotide variantNM_018052.5(VAC14):c.1661+13G>Anot provided [RCV002123670]benign167073148270731482Humanname
152031200CV1632531single nucleotide variantNM_018052.5(VAC14):c.1528+14T>Gnot provided [RCV002124499]likely benign167074440970744409Humanname
152116046CV1653705deletionNM_018052.5(VAC14):c.2035+19delnot provided [RCV002153668]likely benign167069552570695525Humanname
152147533CV1653706single nucleotide variantNM_018052.5(VAC14):c.2035+18C>Gnot provided [RCV002139026]likely benign167069552670695526Humanname
156405732CV1953863single nucleotide variantNM_018052.5(VAC14):c.2036-15C>Gnot provided [RCV002585713]likely benign167069298670692986Humanname
156155359CV1957665single nucleotide variantNM_018052.5(VAC14):c.1372-14G>Anot provided [RCV002573038]likely benign167074459370744593Humanname
156344983CV1958129single nucleotide variantNM_018052.5(VAC14):c.1097-18T>Gnot provided [RCV002580716]likely benign167077219070772190Humanname
156406116CV1963484single nucleotide variantNM_018052.5(VAC14):c.1371+14G>Anot provided [RCV002585798]likely benign167076252670762526Humanname
156417417CV1966937single nucleotide variantNM_018052.5(VAC14):c.1161-15C>Gnot provided [RCV002590179]likely benign167076304070763040Humanname
156270212CV1970913single nucleotide variantNM_018052.5(VAC14):c.1956-10G>Anot provided [RCV002598066]likely benign|uncertain significance167069563370695633Humanname
156338909CV1973959single nucleotide variantNM_018052.5(VAC14):c.1661+12C>Tnot provided [RCV002601175]likely benign167073148370731483Humanname
156263251CV1977633single nucleotide variantNM_018052.5(VAC14):c.1161-15C>Tnot provided [RCV002597852]likely benign167076304070763040Humanname
156346374CV1989126single nucleotide variantNM_018052.5(VAC14):c.1836+14G>Anot provided [RCV002631702]likely benign167069862370698623Humanname
156205282CV2011183single nucleotide variantNM_018052.5(VAC14):c.1837-12G>Cnot provided [RCV002700421]likely benign167069726970697269Humanname
156198623CV2024453single nucleotide variantNM_018052.5(VAC14):c.2187-10C>Gnot provided [RCV002711324]likely benign167068810070688100Humanname
156189415CV2030201single nucleotide variantNM_018052.5(VAC14):c.1661+16G>Anot provided [RCV002765862]likely benign167073147970731479Humanname
156131087CV2037448single nucleotide variantNM_018052.5(VAC14):c.1836+10G>Anot provided [RCV002800616]likely benign167069862770698627Humanname
156268911CV2136385single nucleotide variantNM_018052.5(VAC14):c.1836+10G>Cnot provided [RCV003009194]likely benign167069862770698627Humanname
155978000CV2157038single nucleotide variantNM_018052.5(VAC14):c.1305+16C>Tnot provided [RCV003016242]likely benign167076286570762865Humanname
156099439CV2179939single nucleotide variantNM_018052.5(VAC14):c.1305+15C>Tnot provided [RCV003054668]likely benign167076286670762866Humanname
405166638CV2857617single nucleotide variantNM_018052.5(VAC14):c.1529-19T>Cnot provided [RCV003541839]likely benign167073164670731646Humanname
405189889CV2871200single nucleotide variantNM_018052.5(VAC14):c.1306-14T>Gnot provided [RCV003550306]likely benign167076261970762619Humanname
405094236CV2874675single nucleotide variantNM_018052.5(VAC14):c.1529-14C>Anot provided [RCV003550127]likely benign167073164170731641Humanname
405083817CV2946411single nucleotide variantNM_018052.5(VAC14):c.2035+12C>Gnot provided [RCV003664809]likely benign167069553270695532Humanname
405094943CV2947382single nucleotide variantNM_018052.5(VAC14):c.2187-10C>Tnot provided [RCV003665567]likely benign167068810070688100Humanname
405119201CV2955975single nucleotide variantNM_018052.5(VAC14):c.2186+17G>Anot provided [RCV003671283]likely benign167069280470692804Humanname
405116838CV2961711single nucleotide variantNM_018052.5(VAC14):c.1161-14G>Cnot provided [RCV003671039]likely benign167076303970763039Humanname
404980146CV3120966single nucleotide variantNM_018052.5(VAC14):c.1528+13C>Tnot provided [RCV003825958]likely benign167074441070744410Humanname
405164430CV3125324single nucleotide variantNM_018052.5(VAC14):c.1371+18C>Anot provided [RCV003818596]likely benign167076252270762522Humanname
405051184CV3150968single nucleotide variantNM_018052.5(VAC14):c.2036-20C>Gnot provided [RCV003849572]likely benign167069299170692991Humanname
405133066CV3163862single nucleotide variantNM_018052.5(VAC14):c.1372-19G>Tnot provided [RCV003854850]likely benign167074459870744598Humanname
405243119CV3164731single nucleotide variantNM_018052.5(VAC14):c.1372-15C>Tnot provided [RCV003867812]likely benign167074459470744594Humanname
405250327CV3180705single nucleotide variantNM_018052.5(VAC14):c.2187-12C>Tnot provided [RCV003869982]likely benign167068810270688102Humanname
597916008CV3737334single nucleotide variantNM_018052.5(VAC14):c.1661+15C>Tnot provided [RCV005074123]likely benign167073148070731480Humanname
597841089CV3825454single nucleotide variantNM_018052.5(VAC14):c.1529-17T>Cnot provided [RCV005172137]likely benign167073164470731644Humanname
597972109CV3829400single nucleotide variantNM_018052.5(VAC14):c.1371+20C>Tnot provided [RCV005167187]likely benign167076252070762520Humanname
597915676CV3860896single nucleotide variantNM_018052.5(VAC14):c.1836+18C>Tnot provided [RCV005204259]likely benign167069861970698619Humanname
150335001CV1172886duplicationNM_018052.5(VAC14):c.2186+143dupnot provided [RCV001540349]benign167069267170692672Humanname
150446183CV1215618single nucleotide variantNM_018052.5(VAC14):c.2186+148C>Anot provided [RCV001611211]benign167069267370692673Humanname
150475558CV1216683single nucleotide variantNM_018052.5(VAC14):c.1837-142C>Tnot provided [RCV001615976]benign167069739970697399Humanname
150463700CV1237669single nucleotide variantNM_018052.5(VAC14):c.2187-110C>Gnot provided [RCV001649675]benign167068820070688200Humanname
150500836CV1238260single nucleotide variantNM_018052.5(VAC14):c.1837-168T>Cnot provided [RCV001656690]benign167069742570697425Humanname
150475869CV1251778single nucleotide variantNM_018052.5(VAC14):c.1837-184A>Gnot provided [RCV001671976]benign167069744170697441Humanname
150465599CV1277265single nucleotide variantNM_018052.5(VAC14):c.1662-194G>Cnot provided [RCV001710559]benign167069900570699005Humanname
401934559CV2817628single nucleotide variantNM_018052.5(VAC14):c.2186+825G>Anot provided [RCV003411388]likely benign167069199670691996Humanname
8585096CV119676single nucleotide variantNM_018052.3(VAC14):c.1529-3325G>TLung cancer [RCV000100196]uncertain significance167073495270734952Humanname
8649163CV119677single nucleotide variantNM_018052.3(VAC14):c.1096+1388A>TLung cancer [RCV000100197]uncertain significance167077940270779402Humanname
151752987CV1424530deletionNM_018052.5(VAC14):c.595-10_595delnot provided [RCV001894530]likely pathogenic|uncertain significance167078355470783564Humanname
156323963CV1975402single nucleotide variantNM_018052.5(VAC14):c.9C>G (p.Pro3=)not provided [RCV002630534]likely benign167080089270800892Humanname
156075001CV1985536microsatelliteNM_018052.5(VAC14):c.1161-22TCCC[3]not provided [RCV002638715]likely benign167076303970763040Humanname
597879954CV3826323single nucleotide variantNM_018052.5(VAC14):c.27G>C (p.Pro9=)not provided [RCV005178019]likely benign167080087470800874Humanname
150479447CV1239386single nucleotide variantNM_018052.5(VAC14):c.48C>T (p.Arg16=)VAC14-related disorder [RCV003921302]|not provided [RCV001652549]benign167080085370800853Human1name , trait , alternate_id
156335614CV1954416inversionNM_018052.5(VAC14):c.424-18_424-17invnot provided [RCV002580232]uncertain significance167078485570784856Humanname
156242531CV1981480single nucleotide variantNM_018052.5(VAC14):c.90G>T (p.Ala30=)not provided [RCV002645624]likely benign167080081170800811Humanname
156155308CV1987680microsatelliteNM_018052.5(VAC14):c.256-15_256-13delnot provided [RCV002642212]likely benign167078588270785884Humanname
156058366CV2102187deletionNM_018052.5(VAC14):c.1161-6_1161-3delnot provided [RCV002886413]likely benign167076302870763031Humanname
597886311CV3787395single nucleotide variantNM_018052.5(VAC14):c.30C>G (p.Leu10=)not provided [RCV005124961]likely benign167080087170800871Humanname
15198269CV755366single nucleotide variantNM_018052.5(VAC14):c.91C>T (p.Leu31=)not provided [RCV000912210]likely benign167080081070800810Humanname
15154002CV755367single nucleotide variantNM_018052.5(VAC14):c.63G>A (p.Lys21=)VAC14-related disorder [RCV003923307]|not provided [RCV000924171]benign|likely benign167080083870800838Human1name , trait , alternate_id
15102907CV755368single nucleotide variantNM_018052.5(VAC14):c.33G>C (p.Thr11=)not provided [RCV000915059]likely benign167080086870800868Humanname
151769650CV1460264single nucleotide variantNM_018052.5(VAC14):c.264G>T (p.Gly88=)not provided [RCV001863952]likely benign|uncertain significance167078586170785861Humanname
152084161CV1525442single nucleotide variantNM_018052.5(VAC14):c.184C>T (p.Leu62=)not provided [RCV002131212]likely benign167078628670786286Humanname
152139443CV1638175single nucleotide variantNM_018052.5(VAC14):c.267C>T (p.Leu89=)not provided [RCV002177862]likely benign167078585870785858Humanname
152058141CV1651964single nucleotide variantNM_018052.5(VAC14):c.138C>T (p.Thr46=)not provided [RCV002190213]likely benign167078633270786332Humanname
152120001CV1654873single nucleotide variantNM_018052.5(VAC14):c.219C>T (p.Leu73=)not provided [RCV002216648]likely benign167078625170786251Humanname
152088018CV1655537single nucleotide variantNM_018052.5(VAC14):c.129G>A (p.Gln43=)not provided [RCV002193903]likely benign167078634170786341Humanname
156291275CV1886993single nucleotide variantNM_018052.5(VAC14):c.231C>T (p.Ala77=)not provided [RCV003087495]likely benign167078623970786239Humanname
156359259CV1897986single nucleotide variantNM_018052.5(VAC14):c.120C>T (p.Phe40=)not provided [RCV002602379]likely benign167078635070786350Humanname
156317466CV1903856single nucleotide variantNM_018052.5(VAC14):c.273G>A (p.Leu91=)not provided [RCV003088804]likely benign167078585270785852Humanname
156436755CV1940329single nucleotide variantNM_018052.5(VAC14):c.216C>T (p.Gly72=)not provided [RCV003106279]likely benign167078625470786254Humanname
156407541CV1957524single nucleotide variantNM_018052.5(VAC14):c.285C>T (p.Ile95=)not provided [RCV002586261]likely benign167078584070785840Humanname
155946350CV1999584single nucleotide variantNM_018052.5(VAC14):c.247C>T (p.Leu83=)not provided [RCV002685764]likely benign167078622370786223Humanname
401911752CV2817629single nucleotide variantNM_018052.5(VAC14):c.138C>A (p.Thr46=)not provided [RCV003426760]likely benign167078633270786332Humanname
402501137CV2923213deletionNM_018052.5(VAC14):c.56del (p.Asn19fs)not provided [RCV003574002]pathogenic167080084570800845Humanname
405076014CV2948606single nucleotide variantNM_018052.5(VAC14):c.111C>G (p.Val37=)not provided [RCV003664263]likely benign167078635970786359Humanname
405202799CV2989313single nucleotide variantNM_018052.5(VAC14):c.243C>A (p.Ile81=)not provided [RCV003678356]likely benign167078622770786227Humanname
407529337CV3493288single nucleotide variantNM_018052.5(VAC14):c.22G>A (p.Ala8Thr)Inborn genetic diseases [RCV004680845]uncertain significance167080087970800879Human1name
597906103CV3853223single nucleotide variantNM_018052.5(VAC14):c.213G>C (p.Gly71=)not provided [RCV005202880]likely benign167078625770786257Humanname
126730439CV1000947single nucleotide variantNM_018052.5(VAC14):c.894C>T (p.Ser298=)not provided [RCV001310335]likely benign167078192170781921Humanname
150513436CV1211930single nucleotide variantNM_018052.5(VAC14):c.432C>T (p.Ala144=)not provided [RCV001598451]benign167078483070784830Humanname
152175918CV1580181single nucleotide variantNM_018052.5(VAC14):c.609G>A (p.Glu203=)not provided [RCV002164056]likely benign167078354070783540Humanname
152079759CV1632500single nucleotide variantNM_018052.5(VAC14):c.378C>T (p.Gly126=)not provided [RCV002130679]likely benign167078574770785747Humanname
156356071CV1894904single nucleotide variantNM_018052.5(VAC14):c.456C>T (p.Ser152=)not provided [RCV003091365]likely benign167078480670784806Humanname
156027820CV1906845single nucleotide variantNM_018052.5(VAC14):c.411C>T (p.Asp137=)not provided [RCV003100508]likely benign167078571470785714Humanname
156368459CV1922549single nucleotide variantNM_018052.5(VAC14):c.56A>G (p.Asn19Ser)not provided [RCV002633190]uncertain significance167080084570800845Humanname
156438741CV1947357single nucleotide variantNM_018052.5(VAC14):c.840C>T (p.Cys280=)VAC14-related disorder [RCV003963800]|not provided [RCV003108687]likely benign167078197570781975Human1name , trait , alternate_id
156343066CV1957984single nucleotide variantNM_018052.5(VAC14):c.756C>T (p.Ser252=)not provided [RCV002580612]likely benign167078308870783088Humanname
156412219CV1970332single nucleotide variantNM_018052.5(VAC14):c.966C>T (p.Asn322=)not provided [RCV002608477]likely benign167078092070780920Humanname
156278175CV1971233single nucleotide variantNM_018052.5(VAC14):c.621C>T (p.Asp207=)not provided [RCV002598308]likely benign167078352870783528Humanname
156184286CV2020609single nucleotide variantNM_018052.5(VAC14):c.631C>T (p.Leu211=)not provided [RCV002710880]likely benign167078351870783518Humanname
155935736CV2045738single nucleotide variantNM_018052.5(VAC14):c.351C>G (p.Leu117=)not provided [RCV002751442]likely benign167078577470785774Humanname
156116150CV2058487single nucleotide variantNM_018052.5(VAC14):c.645G>T (p.Pro215=)not provided [RCV002825114]likely benign167078350470783504Humanname
156305455CV2079758single nucleotide variantNM_018052.5(VAC14):c.498T>A (p.Thr166=)not provided [RCV002857383]likely benign167078420970784209Humanname
156089406CV2132244single nucleotide variantNM_018052.5(VAC14):c.373C>A (p.Arg125=)not provided [RCV002979546]likely benign167078575270785752Humanname
401887465CV2771954single nucleotide variantNM_018052.5(VAC14):c.86C>T (p.Ala29Val)Inborn genetic diseases [RCV003352402]uncertain significance167080081570800815Human1name
402521340CV2867280single nucleotide variantNM_018052.5(VAC14):c.510G>A (p.Lys170=)not provided [RCV003547716]likely benign167078419770784197Humanname
405218898CV2873685single nucleotide variantNM_018052.5(VAC14):c.660A>T (p.Gly220=)not provided [RCV003553508]likely benign167078348970783489Humanname
402467399CV2910360single nucleotide variantNM_018052.5(VAC14):c.477C>A (p.Arg159=)not provided [RCV003569605]likely benign167078478570784785Humanname
405214409CV2981394single nucleotide variantNM_018052.5(VAC14):c.322A>C (p.Arg108=)not provided [RCV003709124]likely benign167078580370785803Humanname
405191505CV2984836single nucleotide variantNM_018052.5(VAC14):c.603T>A (p.Val201=)not provided [RCV003706505]likely benign167078354670783546Humanname
402484421CV3036828single nucleotide variantNM_018052.5(VAC14):c.654G>T (p.Leu218=)not provided [RCV003713159]likely benign167078349570783495Humanname
402520984CV3126846single nucleotide variantNM_018052.5(VAC14):c.873C>A (p.Arg291=)not provided [RCV003824764]likely benign167078194270781942Humanname
405017787CV3135280single nucleotide variantNM_018052.5(VAC14):c.645G>A (p.Pro215=)not provided [RCV003829551]likely benign167078350470783504Humanname
402516142CV3135796single nucleotide variantNM_018052.5(VAC14):c.414G>A (p.Gly138=)not provided [RCV003824422]likely benign167078571170785711Humanname
405212512CV3142679single nucleotide variantNM_018052.5(VAC14):c.417G>A (p.Leu139=)not provided [RCV003846036]likely benign167078570870785708Humanname
405201029CV3143507single nucleotide variantNM_018052.5(VAC14):c.786C>T (p.Ile262=)not provided [RCV003844493]likely benign167078305870783058Humanname
405179326CV3147360single nucleotide variantNM_018052.5(VAC14):c.363C>G (p.Val121=)not provided [RCV003842262]likely benign167078576270785762Humanname
405062689CV3148437single nucleotide variantNM_018052.5(VAC14):c.333C>T (p.Tyr111=)not provided [RCV003850393]likely benign167078579270785792Humanname
405169162CV3155451single nucleotide variantNM_018052.5(VAC14):c.399C>T (p.Asn133=)not provided [RCV003857673]likely benign167078572670785726Humanname
597883800CV3745402single nucleotide variantNM_018052.5(VAC14):c.576G>A (p.Arg192=)not provided [RCV005070238]likely benign167078413170784131Humanname
597955650CV3754450single nucleotide variantNM_018052.5(VAC14):c.714T>G (p.Val238=)not provided [RCV005080300]likely benign167078313070783130Humanname
597894669CV3810088single nucleotide variantNM_018052.5(VAC14):c.591C>T (p.Ser197=)not provided [RCV005151809]likely benign167078411670784116Humanname
597962602CV3841034single nucleotide variantNM_018052.5(VAC14):c.825G>A (p.Gln275=)not provided [RCV005193327]likely benign167078199070781990Humanname
597954098CV3844340single nucleotide variantNM_018052.5(VAC14):c.528C>T (p.Phe176=)not provided [RCV005191013]likely benign167078417970784179Humanname
616939620CV4014117single nucleotide variantNM_018052.5(VAC14):c.969G>A (p.Val323=)not provided [RCV005413609]likely benign167078091770780917Humanname
15177933CV715044single nucleotide variantNM_018052.5(VAC14):c.612G>A (p.Ser204=)not provided [RCV000973545]benign|likely benign167078353770783537Humanname
15196676CV726769single nucleotide variantNM_018052.5(VAC14):c.880C>T (p.Leu294=)not provided [RCV000889839]benign|likely benign167078193570781935Humanname
15181793CV726770single nucleotide variantNM_018052.5(VAC14):c.873C>T (p.Arg291=)VAC14-related disorder [RCV003975577]|not provided [RCV000885844]likely benign167078194270781942Human1name , trait , alternate_id
15124930CV755364single nucleotide variantNM_018052.5(VAC14):c.930C>T (p.Tyr310=)not provided [RCV000919065]likely benign167078188570781885Humanname
15192889CV771049single nucleotide variantNM_018052.5(VAC14):c.492T>C (p.Ile164=)VAC14-related disorder [RCV003942914]|not provided [RCV000933209]likely benign167078421570784215Human1name , trait , alternate_id
150485913CV1223098single nucleotide variantNM_018052.5(VAC14):c.2115G>T (p.Pro705=)Striatonigral degeneration, childhood-onset [RCV002243340]|not provided [RCV001617811]benign167069289270692892Human1name
150493390CV1257544single nucleotide variantNM_018052.5(VAC14):c.1002C>T (p.Pro334=)VAC14-related disorder [RCV003975904]|not provided [RCV001675217]benign167078088470780884Human1name , trait , alternate_id
151853110CV1349202single nucleotide variantNM_018052.5(VAC14):c.1008C>T (p.Asp336=)not provided [RCV001923060]likely benign167078087870780878Humanname
151856792CV1410326single nucleotide variantNM_018052.5(VAC14):c.169T>A (p.Ser57Thr)Inborn genetic diseases [RCV004970629]|not provided [RCV001996635]uncertain significance167078630170786301Human1name
152121328CV1521430single nucleotide variantNM_018052.5(VAC14):c.2148G>T (p.Arg716=)not provided [RCV002135745]likely benign167069285970692859Humanname
152126490CV1533808single nucleotide variantNM_018052.5(VAC14):c.1446C>T (p.Pro482=)not provided [RCV002136383]likely benign167074450570744505Humanname
152109244CV1556489single nucleotide variantNM_018052.5(VAC14):c.1515A>C (p.Leu505=)not provided [RCV002096618]likely benign167074443670744436Humanname
152062142CV1558480single nucleotide variantNM_018052.5(VAC14):c.1581T>C (p.Phe527=)not provided [RCV002128462]likely benign167073157570731575Humanname
152155400CV1572855single nucleotide variantNM_018052.5(VAC14):c.1674C>T (p.Leu558=)not provided [RCV002180056]likely benign167069879970698799Humanname
152044349CV1584260single nucleotide variantNM_018052.5(VAC14):c.1776C>A (p.Ile592=)not provided [RCV002071417]likely benign167069869770698697Humanname
152082633CV1589615single nucleotide variantNM_018052.5(VAC14):c.2082C>T (p.Ile694=)not provided [RCV002112962]likely benign167069292570692925Humanname
152165764CV1612662single nucleotide variantNM_018052.5(VAC14):c.1194C>T (p.Asp398=)not provided [RCV002160512]likely benign167076299270762992Humanname
152084935CV1622974single nucleotide variantNM_018052.5(VAC14):c.1932C>T (p.His644=)not provided [RCV002113254]likely benign167069716270697162Humanname
152151907CV1626664single nucleotide variantNM_018052.5(VAC14):c.1704A>G (p.Ser568=)not provided [RCV002202100]likely benign167069876970698769Humanname
152135962CV1634538single nucleotide variantNM_018052.5(VAC14):c.1224C>T (p.Leu408=)not provided [RCV002218718]likely benign167076296270762962Humanname
152108442CV1634872single nucleotide variantNM_018052.5(VAC14):c.1749G>A (p.Ser583=)not provided [RCV002079919]likely benign167069872470698724Humanname
152100894CV1648934single nucleotide variantNM_018052.5(VAC14):c.1761C>T (p.His587=)not provided [RCV002213989]likely benign167069871270698712Humanname
152080427CV1663639single nucleotide variantNM_018052.5(VAC14):c.1275C>T (p.Leu425=)not provided [RCV002149237]benign167076291170762911Humanname
155746806CV1778067single nucleotide variantNM_018052.5(VAC14):c.193C>A (p.His65Asn)not provided [RCV002303452]uncertain significance167078627770786277Humanname
156318887CV1900223single nucleotide variantNM_018052.5(VAC14):c.2254C>T (p.Leu752=)not provided [RCV003088879]likely benign167068802370688023Humanname
156295262CV1904584single nucleotide variantNM_018052.5(VAC14):c.1896G>T (p.Thr632=)not provided [RCV002598920]likely benign167069719870697198Humanname
156267881CV1919045single nucleotide variantNM_018052.5(VAC14):c.1356G>A (p.Ser452=)not provided [RCV002627992]likely benign167076255570762555Humanname
156299238CV1919863single nucleotide variantNM_018052.5(VAC14):c.1062C>T (p.Asp354=)not provided [RCV002599087]likely benign167078082470780824Humanname
156202876CV1925800single nucleotide variantNM_018052.5(VAC14):c.2184C>T (p.Thr728=)not provided [RCV002643698]likely benign167069282370692823Humanname
156310431CV1928364single nucleotide variantNM_018052.5(VAC14):c.1431G>A (p.Thr477=)not provided [RCV002648131]likely benign167074452070744520Humanname
156332444CV1954200single nucleotide variantNM_018052.5(VAC14):c.1566C>T (p.Thr522=)not provided [RCV002580074]likely benign167073159070731590Humanname
156155165CV1957640single nucleotide variantNM_018052.5(VAC14):c.1011C>T (p.Asp337=)not provided [RCV002573031]likely benign167078087570780875Humanname
156379654CV1968408single nucleotide variantNM_018052.5(VAC14):c.2058C>T (p.Asp686=)not provided [RCV002603874]likely benign167069294970692949Humanname
156349937CV1978209single nucleotide variantNM_018052.5(VAC14):c.1365G>A (p.Ser455=)not provided [RCV002601749]likely benign167076254670762546Humanname
155988858CV1979755single nucleotide variantNM_018052.5(VAC14):c.1977G>T (p.Val659=)not provided [RCV002617930]likely benign167069560270695602Humanname
156339150CV1984697single nucleotide variantNM_018052.5(VAC14):c.1890C>T (p.Val630=)not provided [RCV002631338]likely benign167069720470697204Humanname
156209564CV1987067single nucleotide variantNM_018052.5(VAC14):c.1608G>A (p.Lys536=)not provided [RCV002626028]likely benign167073154870731548Humanname
155993201CV1990606single nucleotide variantNM_018052.5(VAC14):c.1200C>T (p.Ile400=)not provided [RCV002618111]likely benign167076298670762986Humanname
156237399CV1992403single nucleotide variantNM_018052.5(VAC14):c.1878C>T (p.Cys626=)not provided [RCV002627017]likely benign167069721670697216Humanname
156390141CV1998609single nucleotide variantNM_018052.5(VAC14):c.215G>A (p.Gly72Asp)not provided [RCV002680682]uncertain significance167078625570786255Humanname
156371217CV2007772single nucleotide variantNM_018052.5(VAC14):c.2103C>G (p.Leu701=)not provided [RCV002676917]likely benign167069290470692904Humanname
156125835CV2046752single nucleotide variantNM_018052.5(VAC14):c.2133G>A (p.Gln711=)not provided [RCV002800414]likely benign167069287470692874Humanname
156163924CV2097012single nucleotide variantNM_018052.5(VAC14):c.2346C>G (p.Leu782=)not provided [RCV002872763]likely benign167068793170687931Humanname
156080468CV2158429single nucleotide variantNM_018052.5(VAC14):c.1047A>G (p.Ala349=)not provided [RCV003037864]likely benign167078083970780839Humanname
156190682CV2165976single nucleotide variantNM_018052.5(VAC14):c.1320G>T (p.Thr440=)not provided [RCV003041641]conflicting interpretations of pathogenicity|uncertain significance167076259170762591Humanname
156274471CV2202620single nucleotide variantNM_018052.5(VAC14):c.193C>T (p.His65Tyr)Inborn genetic diseases [RCV002669752]uncertain significance167078627770786277Human1name
155969707CV2262145single nucleotide variantNM_018052.5(VAC14):c.137C>T (p.Thr46Ile)Inborn genetic diseases [RCV002817592]uncertain significance167078633370786333Human1name
329351655CV2459233single nucleotide variantNM_018052.5(VAC14):c.139G>A (p.Val47Met)Inborn genetic diseases [RCV003199946]uncertain significance167078633170786331Human1name
402504346CV2947454single nucleotide variantNM_018052.5(VAC14):c.2154G>A (p.Gln718=)not provided [RCV003661920]likely benign167069285370692853Humanname
405137550CV2954451single nucleotide variantNM_018052.5(VAC14):c.2001G>A (p.Lys667=)not provided [RCV003672944]likely benign167069557870695578Humanname
402493702CV2981285single nucleotide variantNM_018052.5(VAC14):c.1965G>A (p.Leu655=)not provided [RCV003713927]likely benign167069561470695614Humanname
402503742CV3007221single nucleotide variantNM_018052.5(VAC14):c.2277G>A (p.Gln759=)not provided [RCV003688766]likely benign167068800070688000Humanname
405148414CV3024235single nucleotide variantNM_018052.5(VAC14):c.1378C>T (p.Leu460=)not provided [RCV003703111]likely benign167074457370744573Humanname
405222451CV3038765single nucleotide variantNM_018052.5(VAC14):c.1491G>T (p.Val497=)not provided [RCV003710174]likely benign167074446070744460Humanname
405180329CV3060557single nucleotide variantNM_018052.5(VAC14):c.1803G>A (p.Gln601=)not provided [RCV003728710]likely benign167069867070698670Humanname
405150864CV3063743single nucleotide variantNM_018052.5(VAC14):c.2094C>T (p.Tyr698=)not provided [RCV003726409]likely benign167069291370692913Humanname
405206449CV3064326single nucleotide variantNM_018052.5(VAC14):c.2238C>T (p.Ile746=)not provided [RCV003731371]likely benign167068803970688039Humanname
405208456CV3064716single nucleotide variantNM_018052.5(VAC14):c.2103C>T (p.Leu701=)not provided [RCV003731562]likely benign167069290470692904Humanname
405204829CV3068021single nucleotide variantNM_018052.5(VAC14):c.1407C>T (p.Ile469=)not provided [RCV003731200]likely benign167074454470744544Humanname
405103431CV3116253single nucleotide variantNM_018052.5(VAC14):c.1638G>A (p.Glu546=)not provided [RCV003811969]likely benign167073151870731518Humanname
405113068CV3133593single nucleotide variantNM_018052.5(VAC14):c.2100G>A (p.Leu700=)not provided [RCV003836386]likely benign167069290770692907Humanname
405095163CV3134753single nucleotide variantNM_018052.5(VAC14):c.1524C>T (p.Thr508=)not provided [RCV003835099]likely benign167074442770744427Humanname
405215495CV3143191single nucleotide variantNM_018052.5(VAC14):c.1780C>T (p.Leu594=)not provided [RCV003846354]likely benign167069869370698693Humanname
405218593CV3143868single nucleotide variantNM_018052.5(VAC14):c.2055G>A (p.Leu685=)not provided [RCV003846838]likely benign167069295270692952Humanname
405158242CV3152644single nucleotide variantNM_018052.5(VAC14):c.1300C>A (p.Arg434=)not provided [RCV003840571]likely benign167076288670762886Humanname
405216422CV3160839single nucleotide variantNM_018052.5(VAC14):c.1929G>A (p.Arg643=)not provided [RCV003862901]likely benign167069716570697165Humanname
405244129CV3161199single nucleotide variantNM_018052.5(VAC14):c.1869C>A (p.Arg623=)not provided [RCV003868108]likely benign167069722570697225Humanname
597642712CV3633086single nucleotide variantNM_018052.5(VAC14):c.159C>G (p.Ile53Met)Inborn genetic diseases [RCV004972045]uncertain significance167078631170786311Human1name
597859798CV3744687single nucleotide variantNM_018052.5(VAC14):c.1350G>A (p.Thr450=)not provided [RCV005067232]likely benign167076256170762561Humanname
597951341CV3756438single nucleotide variantNM_018052.5(VAC14):c.1713C>T (p.Asp571=)not provided [RCV005079495]likely benign167069876070698760Humanname
597947468CV3758970single nucleotide variantNM_018052.5(VAC14):c.2289G>A (p.Leu763=)not provided [RCV005078766]likely benign167068798870687988Humanname
597936802CV3759848single nucleotide variantNM_018052.5(VAC14):c.1686G>A (p.Ala562=)not provided [RCV005076770]likely benign167069878770698787Humanname
597835631CV3760994single nucleotide variantNM_018052.5(VAC14):c.1353A>G (p.Leu451=)not provided [RCV005085545]likely benign167076255870762558Humanname
597894157CV3773264single nucleotide variantNM_018052.5(VAC14):c.2166C>T (p.Asn722=)not provided [RCV005111171]likely benign167069284170692841Humanname
597973601CV3820603single nucleotide variantNM_018052.5(VAC14):c.1128C>T (p.Phe376=)not provided [RCV005168120]likely benign167077214170772141Humanname
597970802CV3832602single nucleotide variantNM_018052.5(VAC14):c.1785C>T (p.Thr595=)not provided [RCV005166681]likely benign167069868870698688Humanname
597882360CV3834057single nucleotide variantNM_018052.5(VAC14):c.1089A>G (p.Thr363=)not provided [RCV005178376]likely benign167078079770780797Humanname
597933776CV3844720single nucleotide variantNM_018052.5(VAC14):c.1983C>T (p.Phe661=)not provided [RCV005186226]likely benign167069559670695596Humanname
597942948CV3847372single nucleotide variantNM_018052.5(VAC14):c.2142G>A (p.Ser714=)not provided [RCV005188291]likely benign167069286570692865Humanname
597871779CV3849379single nucleotide variantNM_018052.5(VAC14):c.1509C>T (p.Ala503=)not provided [RCV005197560]likely benign167074444270744442Humanname
597864627CV3861087deletionNM_018052.5(VAC14):c.536del (p.Leu179fs)not provided [RCV005196435]pathogenic167078417170784171Humanname
15190504CV703787single nucleotide variantNM_018052.5(VAC14):c.2034A>G (p.Thr678=)not provided [RCV000954494]benign167069554570695545Humanname
15189387CV703788single nucleotide variantNM_018052.5(VAC14):c.1896G>A (p.Thr632=)not provided [RCV000954160]benign|likely benign167069719870697198Humanname
15152329CV715042single nucleotide variantNM_018052.5(VAC14):c.2172G>A (p.Glu724=)not provided [RCV000968329]benign167069283570692835Humanname
15141970CV715043single nucleotide variantNM_018052.5(VAC14):c.1320G>A (p.Thr440=)VAC14-related disorder [RCV003936017]|not provided [RCV000966398]benign167076259170762591Human1name , trait , alternate_id
15141655CV740332single nucleotide variantNM_018052.5(VAC14):c.2244C>T (p.Tyr748=)VAC14-related disorder [RCV003958120]|not provided [RCV000899535]likely benign167068803370688033Human1name , trait , alternate_id
15188331CV740333single nucleotide variantNM_018052.5(VAC14):c.2115G>A (p.Pro705=)not provided [RCV000909339]likely benign167069289270692892Humanname
15168229CV740334single nucleotide variantNM_018052.5(VAC14):c.1974C>G (p.Thr658=)not provided [RCV000904810]likely benign167069560570695605Humanname
15110815CV755363single nucleotide variantNM_018052.5(VAC14):c.1797C>T (p.Leu599=)VAC14-related disorder [RCV003958389]|not provided [RCV000916610]likely benign167069867670698676Human1name , trait , alternate_id
15200706CV755365single nucleotide variantNM_018052.5(VAC14):c.265C>T (p.Leu89Phe)not provided [RCV000912922]benign167078586070785860Humanname
15202041CV771048single nucleotide variantNM_018052.5(VAC14):c.1320G>C (p.Thr440=)not provided [RCV000935835]likely benign167076259170762591Humanname
15131392CV785368single nucleotide variantNM_018052.5(VAC14):c.2310C>T (p.Ser770=)not provided [RCV000981206]likely benign167068796770687967Humanname
15120507CV785369single nucleotide variantNM_018052.5(VAC14):c.2124C>T (p.Ser708=)not provided [RCV000979302]likely benign167069288370692883Humanname
15119975CV785370single nucleotide variantNM_018052.5(VAC14):c.1902C>T (p.Ser634=)not provided [RCV000979209]likely benign167069719270697192Humanname
15107022CV785371single nucleotide variantNM_018052.5(VAC14):c.1419C>G (p.Pro473=)not provided [RCV000976740]likely benign167074453270744532Humanname
151780323CV1341742single nucleotide variantNM_018052.5(VAC14):c.367G>T (p.Val123Leu)Inborn genetic diseases [RCV002552331]|not provided [RCV001897176]uncertain significance167078575870785758Human1name
151761258CV1343345single nucleotide variantNM_018052.5(VAC14):c.455G>A (p.Ser152Asn)not provided [RCV002024393]uncertain significance167078480770784807Humanname
151782767CV1347433single nucleotide variantNM_018052.5(VAC14):c.382G>A (p.Val128Met)not provided [RCV002046324]uncertain significance167078574370785743Humanname
151745007CV1400953single nucleotide variantNM_018052.5(VAC14):c.318C>G (p.Asp106Glu)Inborn genetic diseases [RCV004970758]|not provided [RCV002022717]uncertain significance167078580770785807Human1name
151875865CV1406020single nucleotide variantNM_018052.5(VAC14):c.361G>A (p.Val121Ile)Inborn genetic diseases [RCV004042033]|not provided [RCV001981894]uncertain significance167078576470785764Human1name
151748304CV1428850single nucleotide variantNM_018052.5(VAC14):c.625A>C (p.Asn209His)not provided [RCV001985999]uncertain significance167078352470783524Humanname
151874789CV1466644single nucleotide variantNM_018052.5(VAC14):c.856A>G (p.Ile286Val)not provided [RCV001885723]uncertain significance167078195970781959Humanname
151849544CV1480510single nucleotide variantNM_018052.5(VAC14):c.758G>A (p.Ser253Asn)Inborn genetic diseases [RCV004681310]|not provided [RCV001903903]uncertain significance167078308670783086Human1name
151819182CV1490329single nucleotide variantNM_018052.5(VAC14):c.308A>G (p.Asn103Ser)Inborn genetic diseases [RCV004970622]|not provided [RCV001992603]benign|likely benign|uncertain significance167078581770785817Human1name
151855153CV1506557single nucleotide variantNM_018052.5(VAC14):c.750C>A (p.Asn250Lys)not provided [RCV001937854]uncertain significance167078309470783094Humanname
151890420CV1511060single nucleotide variantNM_018052.5(VAC14):c.965A>C (p.Asn322Thr)Inborn genetic diseases [RCV004970658]|not provided [RCV001963649]uncertain significance167078092170780921Human1name
151888546CV1512827deletionNM_018052.5(VAC14):c.2106del (p.Met702fs)not provided [RCV001887986]uncertain significance167069290170692901Humanname
152055772CV1588051single nucleotide variantNM_018052.5(VAC14):c.755C>A (p.Ser252Tyr)not provided [RCV002189942]benign167078308970783089Humanname
155795176CV1858971single nucleotide variantNM_018052.5(VAC14):c.934G>C (p.Asp312His)Myoepithelial tumor [RCV002463936]uncertain significance167078188170781881Human1name
156143083CV1898686single nucleotide variantNM_018052.5(VAC14):c.709G>C (p.Glu237Gln)not provided [RCV003082277]uncertain significance167078313570783135Humanname
156365734CV1908431single nucleotide variantNM_018052.5(VAC14):c.874G>A (p.Val292Ile)Inborn genetic diseases [RCV002582049]|not provided [RCV002582050]uncertain significance167078194170781941Human1name
156202781CV1925790single nucleotide variantNM_018052.5(VAC14):c.938G>A (p.Arg313His)not provided [RCV002643695]uncertain significance167078187770781877Humanname
156060154CV1930957single nucleotide variantNM_018052.5(VAC14):c.967G>A (p.Val323Met)not provided [RCV002638256]uncertain significance167078091970780919Humanname
156415813CV1966268single nucleotide variantNM_018052.5(VAC14):c.709G>A (p.Glu237Lys)not provided [RCV002589378]uncertain significance167078313570783135Humanname
156322801CV1978991single nucleotide variantNM_018052.5(VAC14):c.379G>A (p.Ala127Thr)not provided [RCV002630461]uncertain significance167078574670785746Humanname
156104599CV1992160single nucleotide variantNM_018052.5(VAC14):c.505A>T (p.Asn169Tyr)not provided [RCV002622339]uncertain significance167078420270784202Humanname
156184151CV1997669single nucleotide variantNM_018052.5(VAC14):c.847C>T (p.Arg283Trp)not provided [RCV002643119]uncertain significance167078196870781968Humanname
156377654CV2000489single nucleotide variantNM_018052.5(VAC14):c.986T>C (p.Met329Thr)not provided [RCV002653419]uncertain significance167078090070780900Humanname
155973520CV2021838single nucleotide variantNM_018052.5(VAC14):c.520G>C (p.Val174Leu)not provided [RCV002755002]uncertain significance167078418770784187Humanname
156371547CV2031157deletionNM_018052.5(VAC14):c.2073del (p.Tyr692fs)not provided [RCV002721555]pathogenic|uncertain significance167069293470692934Humanname
155953476CV2043865single nucleotide variantNM_018052.5(VAC14):c.962C>T (p.Ala321Val)not provided [RCV002775898]uncertain significance167078092470780924Humanname
155909270CV2044807single nucleotide variantNM_018052.5(VAC14):c.542G>A (p.Arg181Gln)not provided [RCV002771461]uncertain significance167078416570784165Humanname
156030405CV2135439single nucleotide variantNM_018052.5(VAC14):c.329G>A (p.Arg110His)not provided [RCV002999117]uncertain significance167078579670785796Humanname
156050193CV2304561single nucleotide variantNM_018052.5(VAC14):c.764A>G (p.Lys255Arg)Inborn genetic diseases [RCV002911156]uncertain significance167078308070783080Human1name
401770333CV2711087single nucleotide variantNM_018052.5(VAC14):c.813T>G (p.Asp271Glu)Inborn genetic diseases [RCV003261043]uncertain significance167078200270782002Human1name
401948287CV2832466single nucleotide variantNM_018052.5(VAC14):c.921C>A (p.Cys307Ter)Striatonigral degeneration, childhood-onset [RCV003447872]likely pathogenic167078189470781894Human1name
402516882CV2856744single nucleotide variantNM_018052.5(VAC14):c.317A>G (p.Asp106Gly)not provided [RCV003575509]uncertain significance167078580870785808Humanname
402489176CV2984429single nucleotide variantNM_018052.5(VAC14):c.601G>C (p.Val201Leu)not provided [RCV003713606]uncertain significance167078354870783548Humanname
405806091CV3348696single nucleotide variantNM_018052.5(VAC14):c.672C>G (p.Ile224Met)Inborn genetic diseases [RCV004480028]uncertain significance167078347770783477Human1name
405806094CV3348697single nucleotide variantNM_018052.5(VAC14):c.808A>G (p.Thr270Ala)Inborn genetic diseases [RCV004480029]uncertain significance167078303670783036Human1name
407464769CV3493287single nucleotide variantNM_018052.5(VAC14):c.622A>G (p.Ile208Val)Inborn genetic diseases [RCV004688592]uncertain significance167078352770783527Human1name
408394349CV3521940single nucleotide variantNM_018052.5(VAC14):c.412G>A (p.Gly138Arg)Striatonigral degeneration, childhood-onset [RCV004764739]uncertain significance167078571370785713Human1name
597656425CV3552331single nucleotide variantNM_018052.5(VAC14):c.541C>G (p.Arg181Gly)Striatonigral degeneration, childhood-onset [RCV004821189]uncertain significance167078416670784166Human1name
597642694CV3633082single nucleotide variantNM_018052.5(VAC14):c.567G>T (p.Gln189His)Inborn genetic diseases [RCV004972041]uncertain significance167078414070784140Human1name
597642706CV3633085single nucleotide variantNM_018052.5(VAC14):c.872G>A (p.Arg291His)Inborn genetic diseases [RCV004972044]uncertain significance167078194370781943Human1name
597642719CV3633088single nucleotide variantNM_018052.5(VAC14):c.403C>T (p.Leu135Phe)Inborn genetic diseases [RCV004972047]uncertain significance167078572270785722Human1name
597966559CV3794258duplicationNM_018052.5(VAC14):c.1011dup (p.Glu338fs)not provided [RCV005140434]pathogenic167078087470780875Humanname
12854359CV384431single nucleotide variantNM_018052.5(VAC14):c.923T>A (p.Leu308Ter)Striatonigral degeneration, childhood-onset [RCV004800412]|Yunis-Varon syndrome [RCV000449608]|not provided [RCV002522739]pathogenic|uncertain significance167078189270781892Human2name
598130054CV3888815single nucleotide variantNM_018052.5(VAC14):c.607G>C (p.Glu203Gln)Striatonigral degeneration, childhood-onset [RCV005245578]uncertain significance167078354270783542Human1name
598130055CV3888816single nucleotide variantNM_018052.5(VAC14):c.507C>A (p.Asn169Lys)Striatonigral degeneration, childhood-onset [RCV005245579]uncertain significance167078420070784200Human1name
598205269CV3929334single nucleotide variantNM_018052.5(VAC14):c.879G>C (p.Met293Ile)Inborn genetic diseases [RCV005290822]uncertain significance167078193670781936Human1name
15111280CV715045single nucleotide variantNM_018052.5(VAC14):c.358A>G (p.Ile120Val)not provided [RCV000961075]benign|likely benign167078576770785767Humanname
126746547CV1015432single nucleotide variantNM_018052.5(VAC14):c.2033C>A (p.Thr678Lys)Neurodegeneration [RCV001328495]uncertain significance167069554670695546Human2name
126726904CV1018139single nucleotide variantNM_018052.5(VAC14):c.2015T>C (p.Ile672Thr)Striatonigral degeneration, childhood-onset [RCV001332221]uncertain significance167069556470695564Human1name
126732353CV1021515single nucleotide variantNM_018052.5(VAC14):c.1723C>T (p.Arg575Trp)Inborn genetic diseases [RCV002546666]|Striatonigral degeneration, childhood-onset [RCV001333989]|not provided [RCV001865799]likely benign|uncertain significance167069875070698750Human2name
151351427CV1323445single nucleotide variantNM_018052.5(VAC14):c.1927C>T (p.Arg643Trp)Striatonigral degeneration, childhood-onset [RCV001806301]uncertain significance167069716770697167Human1name
151662087CV1330224single nucleotide variantNM_018052.5(VAC14):c.1867C>T (p.Arg623Cys)Striatonigral degeneration, childhood-onset [RCV001823636]|not provided [RCV002542740]uncertain significance167069722770697227Human1name
151881763CV1339874single nucleotide variantNM_018052.5(VAC14):c.1420G>A (p.Ala474Thr)Inborn genetic diseases [RCV003161168]|not provided [RCV001999696]uncertain significance167074453170744531Human1name
151831415CV1343634single nucleotide variantNM_018052.5(VAC14):c.2297G>A (p.Arg766Gln)Inborn genetic diseases [RCV002556298]|not provided [RCV001920528]uncertain significance167068798070687980Human1name
151873139CV1359478single nucleotide variantNM_018052.5(VAC14):c.2026A>G (p.Ile676Val)not provided [RCV002019204]uncertain significance167069555370695553Humanname
151826954CV1359828single nucleotide variantNM_018052.5(VAC14):c.1308G>A (p.Met436Ile)Inborn genetic diseases [RCV003355791]|not provided [RCV002050339]uncertain significance167076260370762603Human1name
151753982CV1360163single nucleotide variantNM_018052.5(VAC14):c.2234G>T (p.Ser745Ile)not provided [RCV001872537]uncertain significance167068804370688043Humanname
151804515CV1362912single nucleotide variantNM_018052.5(VAC14):c.1312C>T (p.Arg438Trp)Inborn genetic diseases [RCV002625387]|not provided [RCV002028400]uncertain significance167076259970762599Human1name
151877183CV1368795single nucleotide variantNM_018052.5(VAC14):c.2329G>A (p.Asp777Asn)not provided [RCV001999079]uncertain significance167068794870687948Humanname
151792301CV1375883single nucleotide variantNM_018052.5(VAC14):c.1549T>C (p.Ser517Pro)not provided [RCV001973164]uncertain significance167073160770731607Humanname
151874886CV1388239single nucleotide variantNM_018052.5(VAC14):c.2338G>A (p.Val780Ile)not provided [RCV001981774]uncertain significance167068793970687939Humanname
151857538CV1403383single nucleotide variantNM_018052.5(VAC14):c.1261G>T (p.Val421Phe)not provided [RCV001923584]uncertain significance167076292570762925Humanname
151871104CV1413578single nucleotide variantNM_018052.5(VAC14):c.2310C>A (p.Ser770Arg)Inborn genetic diseases [RCV005301052]|not provided [RCV001998348]uncertain significance167068796770687967Human1name
151756736CV1414322single nucleotide variantNM_018052.5(VAC14):c.2266G>T (p.Glu756Ter)not provided [RCV001894869]uncertain significance167068801170688011Humanname
151869326CV1415881single nucleotide variantNM_018052.5(VAC14):c.1705A>G (p.Met569Val)not provided [RCV001884936]uncertain significance167069876870698768Humanname
151718203CV1419616single nucleotide variantNM_018052.5(VAC14):c.1561C>T (p.Pro521Ser)not provided [RCV001965551]uncertain significance167073159570731595Humanname
151783034CV1434540single nucleotide variantNM_018052.5(VAC14):c.1142G>A (p.Ser381Asn)Inborn genetic diseases [RCV005288589]|not provided [RCV001897419]uncertain significance167077212770772127Human1name
151774568CV1450209single nucleotide variantNM_018052.5(VAC14):c.1324A>G (p.Ser442Gly)not provided [RCV001915306]uncertain significance167076258770762587Humanname
151872544CV1487894single nucleotide variantNM_018052.5(VAC14):c.1987G>A (p.Ala663Thr)not provided [RCV001981490]uncertain significance167069559270695592Humanname
151731564CV1489854single nucleotide variantNM_018052.5(VAC14):c.2141C>T (p.Ser714Leu)Inborn genetic diseases [RCV003289180]|not provided [RCV001910923]uncertain significance167069286670692866Human1name
151798037CV1503887single nucleotide variantNM_018052.5(VAC14):c.1510G>A (p.Gly504Ser)not provided [RCV001973651]uncertain significance167074444170744441Humanname
151771044CV1506017single nucleotide variantNM_018052.5(VAC14):c.1300C>T (p.Arg434Trp)Inborn genetic diseases [RCV004970383]|not provided [RCV001914979]uncertain significance167076288670762886Human1name
156397171CV1871023single nucleotide variantNM_018052.5(VAC14):c.2306G>A (p.Arg769Gln)not provided [RCV003068752]uncertain significance167068797170687971Humanname
156329574CV1881198single nucleotide variantNM_018052.5(VAC14):c.1313G>A (p.Arg438Gln)Inborn genetic diseases [RCV004071615]|not provided [RCV003063612]uncertain significance167076259870762598Human1name
156376841CV1896169single nucleotide variantNM_018052.5(VAC14):c.2185G>A (p.Glu729Lys)not provided [RCV003092945]uncertain significance167069282270692822Humanname
156005074CV1906370single nucleotide variantNM_018052.5(VAC14):c.1201G>A (p.Val401Met)Inborn genetic diseases [RCV003098988]|not provided [RCV003098987]uncertain significance167076298570762985Human1name
156201087CV1916773single nucleotide variantNM_018052.5(VAC14):c.1135G>A (p.Gly379Ser)Inborn genetic diseases [RCV002595704]|not provided [RCV002595705]likely benign|uncertain significance167077213470772134Human1name
155937219CV1917126single nucleotide variantNM_018052.5(VAC14):c.1498C>T (p.Pro500Ser)Inborn genetic diseases [RCV002592399]|not provided [RCV002615391]uncertain significance167074445370744453Human1name
156442269CV1938495single nucleotide variantNM_018052.5(VAC14):c.1346A>T (p.Gln449Leu)Inborn genetic diseases [RCV004963549]|not provided [RCV003112609]uncertain significance167076256570762565Human1name
156434378CV1940022single nucleotide variantNM_018052.5(VAC14):c.1009G>A (p.Asp337Asn)not provided [RCV003104437]uncertain significance167078087770780877Humanname
156438581CV1947190single nucleotide variantNM_018052.5(VAC14):c.1144G>C (p.Val382Leu)Inborn genetic diseases [RCV004244533]|not provided [RCV003108525]uncertain significance167077212570772125Human1name
156345120CV1958140single nucleotide variantNM_018052.5(VAC14):c.2311G>A (p.Gly771Arg)not provided [RCV002580723]uncertain significance167068796670687966Humanname
156356564CV1962452single nucleotide variantNM_018052.5(VAC14):c.1084G>A (p.Gly362Ser)not provided [RCV002581431]uncertain significance167078080270780802Humanname
156327436CV1982286single nucleotide variantNM_018052.5(VAC14):c.2333G>A (p.Arg778Gln)not provided [RCV002649636]uncertain significance167068794470687944Humanname
156115894CV1982499single nucleotide variantNM_018052.5(VAC14):c.2146C>T (p.Arg716Trp)not provided [RCV002622757]uncertain significance167069286170692861Humanname
156010260CV1991776single nucleotide variantNM_018052.5(VAC14):c.1106A>T (p.Asp369Val)not provided [RCV002618868]uncertain significance167077216370772163Humanname
156370333CV2007680single nucleotide variantNM_018052.5(VAC14):c.1188C>A (p.His396Gln)not provided [RCV002676849]uncertain significance167076299870762998Humanname
155911047CV2014668single nucleotide variantNM_018052.5(VAC14):c.1621G>A (p.Glu541Lys)not provided [RCV002681719]uncertain significance167073153570731535Humanname
156122872CV2036023single nucleotide variantNM_018052.5(VAC14):c.1430C>T (p.Thr477Met)not provided [RCV002800298]uncertain significance167074452170744521Humanname
156260677CV2059386single nucleotide variantNM_018052.5(VAC14):c.1657A>G (p.Ile553Val)not provided [RCV002806316]uncertain significance167073149970731499Humanname
156193588CV2066488single nucleotide variantNM_018052.5(VAC14):c.2158G>T (p.Val720Leu)not provided [RCV002828692]uncertain significance167069284970692849Humanname
156194542CV2113579single nucleotide variantNM_018052.5(VAC14):c.2190C>A (p.Asp730Glu)not provided [RCV002957165]uncertain significance167068808770688087Humanname
156122195CV2128578single nucleotide variantNM_018052.5(VAC14):c.1012G>A (p.Glu338Lys)Inborn genetic diseases [RCV004068027]|not provided [RCV002953540]uncertain significance167078087470780874Human1name
156300049CV2146064single nucleotide variantNM_018052.5(VAC14):c.1218C>G (p.Cys406Trp)not provided [RCV003010342]uncertain significance167076296870762968Humanname
156272872CV2168198single nucleotide variantNM_018052.5(VAC14):c.1208T>C (p.Val403Ala)not provided [RCV003027054]uncertain significance167076297870762978Humanname
156126483CV2176132single nucleotide variantNM_018052.5(VAC14):c.1298C>G (p.Pro433Arg)not provided [RCV003039523]uncertain significance167076288870762888Humanname
156141432CV2177914single nucleotide variantNM_018052.5(VAC14):c.2209A>G (p.Lys737Glu)Inborn genetic diseases [RCV004068733]|not provided [RCV003040050]uncertain significance167068806870688068Human1name
156085920CV2184475single nucleotide variantNM_018052.5(VAC14):c.2114C>T (p.Pro705Leu)not provided [RCV003054188]uncertain significance167069289370692893Humanname
156374967CV2190928indelNM_018052.5(VAC14):c.1306-7_1306-6delinsTTnot provided [RCV003050024]uncertain significance167076261170762612Humanname
156158825CV2191642single nucleotide variantNM_018052.5(VAC14):c.2228C>T (p.Ser743Phe)not provided [RCV003040630]uncertain significance167068804970688049Humanname
156352959CV2324077single nucleotide variantNM_018052.5(VAC14):c.1058C>T (p.Pro353Leu)Inborn genetic diseases [RCV002940162]uncertain significance167078082870780828Human1name
156080107CV2337434single nucleotide variantNM_018052.5(VAC14):c.1735C>G (p.Leu579Val)Inborn genetic diseases [RCV002926118]uncertain significance167069873870698738Human1name
155929420CV2369734single nucleotide variantNM_018052.5(VAC14):c.1450G>A (p.Asp484Asn)Inborn genetic diseases [RCV002993065]uncertain significance167074450170744501Human1name
243061986CV2407175single nucleotide variantNM_018052.5(VAC14):c.1339C>G (p.Leu447Val)Inborn genetic diseases [RCV003164847]|Striatonigral degeneration, childhood-onset [RCV003139258]uncertain significance167076257270762572Human2name
243061987CV2407176single nucleotide variantNM_018052.5(VAC14):c.1063G>A (p.Asp355Asn)Striatonigral degeneration, childhood-onset [RCV003139259]uncertain significance167078082370780823Human1name
329361804CV2468330single nucleotide variantNM_018052.5(VAC14):c.1036C>G (p.Gln346Glu)Inborn genetic diseases [RCV003205704]uncertain significance167078085070780850Human1name
329392881CV2469033single nucleotide variantNM_018052.5(VAC14):c.1981T>C (p.Phe661Leu)Inborn genetic diseases [RCV003217998]uncertain significance167069559870695598Human1name
11531363CV247552single nucleotide variantNM_018052.5(VAC14):c.1271G>T (p.Trp424Leu)Striatonigral degeneration, childhood-onset [RCV000239574]pathogenic167076291570762915Human1name
11531342CV247554single nucleotide variantNM_018052.5(VAC14):c.1744G>T (p.Ala582Ser)Striatonigral degeneration, childhood-onset [RCV000239537]pathogenic167069872970698729Human1name
11531369CV247555single nucleotide variantNM_018052.5(VAC14):c.1748C>T (p.Ser583Leu)Striatonigral degeneration, childhood-onset [RCV000239591]pathogenic167069872570698725Human1name
401890036CV2758484single nucleotide variantNM_018052.5(VAC14):c.1625G>A (p.Arg542Gln)Inborn genetic diseases [RCV003368613]uncertain significance167073153170731531Human1name
405061213CV3030002single nucleotide variantNM_018052.5(VAC14):c.2260C>A (p.His754Asn)not provided [RCV003697675]uncertain significance167068801770688017Humanname
405125285CV3043563single nucleotide variantNM_018052.5(VAC14):c.1435G>A (p.Asp479Asn)not provided [RCV003724310]uncertain significance167074451670744516Humanname
405082629CV3137526single nucleotide variantNM_018052.5(VAC14):c.1115G>A (p.Cys372Tyr)not provided [RCV003834235]uncertain significance167077215470772154Humanname
405158678CV3159823single nucleotide variantNM_018052.5(VAC14):c.2081T>C (p.Ile694Thr)not provided [RCV003856894]uncertain significance167069292670692926Humanname
405806082CV3348692single nucleotide variantNM_018052.5(VAC14):c.1355C>T (p.Ser452Leu)Inborn genetic diseases [RCV004480024]uncertain significance167076255670762556Human1name
405806085CV3348693single nucleotide variantNM_018052.5(VAC14):c.1567A>G (p.Met523Val)Inborn genetic diseases [RCV004480025]uncertain significance167073158970731589Human1name
405806087CV3348694single nucleotide variantNM_018052.5(VAC14):c.1721T>C (p.Leu574Pro)Inborn genetic diseases [RCV004480026]uncertain significance167069875270698752Human1name
405806089CV3348695single nucleotide variantNM_018052.5(VAC14):c.2057A>G (p.Asp686Gly)Inborn genetic diseases [RCV004480027]uncertain significance167069295070692950Human1name
407529332CV3493282single nucleotide variantNM_018052.5(VAC14):c.1591A>G (p.Met531Val)Inborn genetic diseases [RCV004680842]uncertain significance167073156570731565Human1name
407529334CV3493283single nucleotide variantNM_018052.5(VAC14):c.1928G>A (p.Arg643Gln)Inborn genetic diseases [RCV004680843]uncertain significance167069716670697166Human1name
407464762CV3493284single nucleotide variantNM_018052.5(VAC14):c.2266G>A (p.Glu756Lys)Inborn genetic diseases [RCV004688590]uncertain significance167068801170688011Human1name
407529335CV3493286single nucleotide variantNM_018052.5(VAC14):c.2245G>A (p.Ala749Thr)Inborn genetic diseases [RCV004680844]likely benign167068803270688032Human1name
407529338CV3493289single nucleotide variantNM_018052.5(VAC14):c.1587G>C (p.Lys529Asn)Inborn genetic diseases [RCV004680846]uncertain significance167073156970731569Human1name
597642697CV3633083single nucleotide variantNM_018052.5(VAC14):c.1301G>A (p.Arg434Gln)Inborn genetic diseases [RCV004972042]uncertain significance167076288570762885Human1name
597642700CV3633084single nucleotide variantNM_018052.5(VAC14):c.1903C>T (p.Leu635Phe)Inborn genetic diseases [RCV004972043]uncertain significance167069719170697191Human1name
597642715CV3633087single nucleotide variantNM_018052.5(VAC14):c.1942C>A (p.Leu648Ile)Inborn genetic diseases [RCV004972046]uncertain significance167069715270697152Human1name
597642722CV3633090single nucleotide variantNM_018052.5(VAC14):c.2224G>A (p.Asp742Asn)Inborn genetic diseases [RCV004972048]uncertain significance167068805370688053Human1name
597901953CV3771443single nucleotide variantNM_018052.5(VAC14):c.1877G>A (p.Cys626Tyr)not provided [RCV005112408]uncertain significance167069721770697217Humanname
597972671CV3823464single nucleotide variantNM_018052.5(VAC14):c.1868G>A (p.Arg623His)not provided [RCV005167560]uncertain significance167069722670697226Humanname
12854350CV384430single nucleotide variantNM_018052.5(VAC14):c.1895C>T (p.Thr632Met)Yunis-Varon syndrome [RCV000449551]|not provided [RCV003441855]likely pathogenic|uncertain significance167069719970697199Human1name
598239824CV3929330single nucleotide variantNM_018052.5(VAC14):c.1100G>A (p.Gly367Asp)Inborn genetic diseases [RCV005296660]uncertain significance167077216970772169Human1name
598205265CV3929331single nucleotide variantNM_018052.5(VAC14):c.1794G>C (p.Glu598Asp)Inborn genetic diseases [RCV005290821]uncertain significance167069867970698679Human1name
598239829CV3929332single nucleotide variantNM_018052.5(VAC14):c.1348A>G (p.Thr450Ala)Inborn genetic diseases [RCV005296661]uncertain significance167076256370762563Human1name
598239831CV3929333single nucleotide variantNM_018052.5(VAC14):c.1362A>C (p.Glu454Asp)Inborn genetic diseases [RCV005296662]uncertain significance167076254970762549Human1name
598205275CV3929335single nucleotide variantNM_018052.5(VAC14):c.1147T>C (p.Phe383Leu)Inborn genetic diseases [RCV005290823]uncertain significance167077212270772122Human1name
598239838CV3929337single nucleotide variantNM_018052.5(VAC14):c.1232C>T (p.Thr411Met)Inborn genetic diseases [RCV005296664]likely benign167076295470762954Human1name
598239842CV3929338single nucleotide variantNM_018052.5(VAC14):c.2315G>T (p.Arg772Leu)Inborn genetic diseases [RCV005296665]uncertain significance167068796270687962Human1name
21068720CV626013single nucleotide variantNM_018052.5(VAC14):c.2005G>T (p.Val669Leu)Inborn genetic diseases [RCV001267003]|Striatonigral degeneration, childhood-onset [RCV000984879]|not provided [RCV001662820]likely pathogenic|uncertain significance167069557470695574Human2name
15147832CV715041single nucleotide variantNM_018052.5(VAC14):c.2309G>A (p.Ser770Asn)not provided [RCV000967420]benign167068796870687968Humanname
21075418CV797369single nucleotide variantNM_018052.5(VAC14):c.2042G>A (p.Arg681His)not provided [RCV000996300]uncertain significance167069296570692965Humanname
21075419CV797370single nucleotide variantNM_018052.5(VAC14):c.1744G>A (p.Ala582Thr)not provided [RCV000996301]conflicting interpretations of pathogenicity|uncertain significance167069872970698729Humanname
21075420CV797371single nucleotide variantNM_018052.5(VAC14):c.1357G>T (p.Asp453Tyr)not provided [RCV000996302]uncertain significance167076255470762554Humanname
8627860CV83004single nucleotide variantNM_018052.3(VAC14):c.1402G>A (p.Glu468Lys)Malignant melanoma [RCV000063084]not provided167074454970744549Humanname
151844453CV1408901duplicationNM_018052.5(VAC14):c.2192_2197dup (p.Ser731_Leu732dup)not provided [RCV002015729]uncertain significance167068807970688080Humanname