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Variants search result for Homo sapiens
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173 records found for search term Dut
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151353876CV1327428single nucleotide variantNM_001025248.2(DUT):c.280+9G>Anot specified [RCV001817372]benign154833180448331804Humanname
401930018CV2817552single nucleotide variantNM_001025248.2(DUT):c.327G>A (p.Val109=)not provided [RCV003390485]likely benign154833231448332314Humanname
155969115CV2244447single nucleotide variantNM_001025248.2(DUT):c.158T>C (p.Ile53Thr)not specified [RCV004100412]likely benign154833167348331673Humanname
155265530CV1704890single nucleotide variantNM_001025248.2(DUT):c.425A>G (p.Tyr142Cys)Bone marrow failure and diabetes mellitus syndrome [RCV002285135]pathogenic154833442248334422Human1name
156387864CV2221637single nucleotide variantNM_001025248.2(DUT):c.736T>G (p.Phe246Val)not specified [RCV004096885]uncertain significance154834205548342055Humanname
401761585CV2702401single nucleotide variantNM_001025248.2(DUT):c.640G>C (p.Gly214Arg)not specified [RCV004316919]uncertain significance154834152348341523Humanname
401748658CV2704367single nucleotide variantNM_001025248.2(DUT):c.404G>C (p.Gly135Ala)not specified [RCV004311338]uncertain significance154833239148332391Humanname
405691664CV3227576single nucleotide variantNM_001025248.2(DUT):c.647G>A (p.Arg216Gln)Bone marrow failure and diabetes mellitus syndrome [RCV003991921]uncertain significance154834153048341530Human1name
407476912CV3431159single nucleotide variantNM_001025248.2(DUT):c.604T>C (p.Phe202Leu)not specified [RCV004617230]uncertain significance154834133648341336Humanname
597802590CV3670259single nucleotide variantNM_001025248.2(DUT):c.718G>A (p.Glu240Lys)not specified [RCV004906760]uncertain significance154834203748342037Humanname
14696155CV612407single nucleotide variantNM_001025248.2(DUT):c.298C>T (p.Pro100Ser)High myopia [RCV000785702]uncertain significance154833228548332285Human2name
8660109CV135116single nucleotide variantNM_002472.3(MYH8):c.1701G>A (p.Gln567=)Hecht syndrome [RCV000357614]|not provided [RCV000961460]|not specified [RCV000117684]benign|likely benign171040947510409475Human1alternate_id
8660110CV135117single nucleotide variantNM_002472.3(MYH8):c.1907C>T (p.Ala636Val)Hecht syndrome [RCV000354138]|not provided [RCV001689650]|not specified [RCV000117685]benign|likely benign171040915510409155Human1alternate_id
8660111CV135118single nucleotide variantNM_002472.3(MYH8):c.2016C>T (p.Phe672=)Hecht syndrome [RCV000404842]|not provided [RCV001682817]|not specified [RCV000117686]benign|likely benign171040692910406929Human1alternate_id
8660112CV135119single nucleotide variantNM_002472.3(MYH8):c.3117G>A (p.Gly1039=)Hecht syndrome [RCV000289687]|not provided [RCV001689651]|not specified [RCV000117687]benign|likely benign171040118310401183Human1alternate_id
8660113CV135120single nucleotide variantNM_002472.3(MYH8):c.3270C>T (p.Ile1090=)Hecht syndrome [RCV000285844]|not provided [RCV001689652]|not specified [RCV000117688]benign|likely benign171040094410400944Human1alternate_id
8660114CV135121single nucleotide variantNM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)Carney complex - trismus - pseudocamptodactyly syndrome [RCV002498519]|Hecht syndrome [RCV001115464]|MYH8-related disorder [RCV003891625]|not provided [RCV000970024]|not specified [RCV000117689]benign|likely benign|conflicting interpretations of pathogenicity171040043910400439Human2alternate_id
8660115CV135122single nucleotide variantNM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys)Hecht syndrome [RCV001120365]|not provided [RCV000973549]|not specified [RCV000117690]benign|likely benign171039964810399648Human1alternate_id
8660116CV135123single nucleotide variantNM_002472.3(MYH8):c.4233C>T (p.Asn1411=)Hecht syndrome [RCV000370524]|not provided [RCV000962468]|not specified [RCV000117691]benign|likely benign|conflicting interpretations of pathogenicity171039693210396932Human1alternate_id
8660117CV135124single nucleotide variantNM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg)Hecht syndrome [RCV000341726]|not provided [RCV001647133]|not specified [RCV000117692]benign|likely benign171039434110394341Human1alternate_id
8660118CV135125single nucleotide variantNM_002472.3(MYH8):c.5208C>T (p.Asp1736=)Hecht syndrome [RCV000393720]|not provided [RCV001598623]|not specified [RCV000117693]benign|likely benign171039316910393169Human1alternate_id
8660119CV135126single nucleotide variantNM_002472.3(MYH8):c.714T>C (p.Thr238=)Hecht syndrome [RCV000283465]|not provided [RCV001689653]|not specified [RCV000117694]benign|likely benign171041531910415319Human1alternate_id
8660120CV135127single nucleotide variantNM_002472.3(MYH8):c.805+9C>THecht syndrome [RCV001120265]|not provided [RCV000947767]|not specified [RCV000117695]benign|likely benign171041510710415107Human1alternate_id
155797041CV1863144single nucleotide variantNM_002472.3(MYH8):c.2172-4G>THecht syndrome [RCV002470418]uncertain significance171040640110406401Human1alternate_id
10404598CV208334single nucleotide variantNM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)Hecht syndrome [RCV000989748]|Inborn genetic diseases [RCV000210686]|not provided [RCV000953038]|not specified [RCV000194050]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance171039294410392944Human2alternate_id
10404585CV208337single nucleotide variantNM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys)Hecht syndrome [RCV001120363]|MYH8-related disorder [RCV003937699]|not provided [RCV000970023]|not specified [RCV000193751]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance171039858010398580Human1alternate_id
10404551CV208338single nucleotide variantNM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys)Carney complex - trismus - pseudocamptodactyly syndrome [RCV005396573]|Hecht syndrome [RCV001115467]|MYH8-related disorder [RCV003955163]|not specified [RCV000192957]benign|likely benign|uncertain significance171040059310400593Human2alternate_id
12907337CV227384single nucleotide variantNM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)Carney complex - trismus - pseudocamptodactyly syndrome [RCV000490328]|not provided [RCV004692833]uncertain significance171039887510398875Human1alternate_id
11548907CV256016single nucleotide variantNM_002472.3(MYH8):c.5464G>A (p.Val1822Ile)Hecht syndrome [RCV000280910]|MYH8-related disorder [RCV003891910]|not provided [RCV000897671]benign|likely benign|uncertain significance171039264610392646Human1alternate_id
11548701CV256021single nucleotide variantNM_002472.3(MYH8):c.2274A>G (p.Gln758=)Hecht syndrome [RCV000312031]|not provided [RCV000950815]|not specified [RCV000249435]benign|likely benign|uncertain significance171040629510406295Human1alternate_id
11545113CV256022single nucleotide variantNM_002472.3(MYH8):c.225G>C (p.Arg75Ser)Hecht syndrome [RCV001120569]|MYH8-related disorder [RCV003891909]|not provided [RCV000910866]benign|likely benign171041901610419016Human1alternate_id
8599682CV29175single nucleotide variantNM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)Carney complex - trismus - pseudocamptodactyly syndrome [RCV000015197]|Hecht syndrome [RCV000015198]|not provided [RCV000438123]pathogenic171040692410406924Human2alternate_id
405704480CV3225107single nucleotide variantNM_002472.3(MYH8):c.1804G>A (p.Asp602Asn)Hecht syndrome [RCV003990063]uncertain significance171040937210409372Human1alternate_id
11618637CV327061single nucleotide variantNM_002472.3(MYH8):c.5736G>C (p.Arg1912=)Hecht syndrome [RCV000316079]uncertain significance171039053210390532Human1alternate_id
11615274CV327065single nucleotide variantNM_002472.3(MYH8):c.5166+14A>GHecht syndrome [RCV000284429]uncertain significance171039423510394235Human1alternate_id
11652630CV327077single nucleotide variantNM_002472.3(MYH8):c.4910G>A (p.Arg1637His)Hecht syndrome [RCV000306309]|not specified [RCV004021686]uncertain significance171039518510395185Human1alternate_id
11625882CV327079single nucleotide variantNM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr)Hecht syndrome [RCV000404339]uncertain significance171039535710395357Human1alternate_id
11653222CV327084single nucleotide variantNM_002472.3(MYH8):c.4692C>A (p.Ile1564=)Hecht syndrome [RCV000309839]uncertain significance171039540310395403Human1alternate_id
11622984CV327085single nucleotide variantNM_002472.3(MYH8):c.4688G>A (p.Arg1563His)Hecht syndrome [RCV000366956]uncertain significance171039540710395407Human1alternate_id
11620967CV327086single nucleotide variantNM_002472.3(MYH8):c.3255-8G>AHecht syndrome [RCV000343055]uncertain significance171040096710400967Human1alternate_id
11621301CV327090single nucleotide variantNM_002472.3(MYH8):c.2987C>G (p.Ser996Cys)Hecht syndrome [RCV000346993]uncertain significance171040139610401396Human1alternate_id
11645965CV327092single nucleotide variantNM_002472.3(MYH8):c.1009-4G>AHecht syndrome [RCV000268348]uncertain significance171041404410414044Human1alternate_id
11623831CV327093single nucleotide variantNM_002472.3(MYH8):c.840A>G (p.Leu280=)Hecht syndrome [RCV000378041]uncertain significance171041445010414450Human1alternate_id
11635607CV327094single nucleotide variantNM_002472.3(MYH8):c.605C>T (p.Ala202Val)Hecht syndrome [RCV000374383]uncertain significance171041551510415515Human1alternate_id
11618432CV327098single nucleotide variantNM_002472.3(MYH8):c.-7C>THecht syndrome [RCV000313692]|not provided [RCV004694303]uncertain significance171042023410420234Human1alternate_id
11625992CV327102single nucleotide variantNM_002472.3(MYH8):c.-65C>THecht syndrome [RCV000405751]uncertain significance171042169710421697Human1alternate_id
11616520CV336968single nucleotide variantNM_002472.3(MYH8):c.*72T>CHecht syndrome [RCV000295156]|not provided [RCV001553193]likely benign|uncertain significance171039038210390382Human1alternate_id
11622678CV336970single nucleotide variantNM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys)Hecht syndrome [RCV000363358]uncertain significance171039531110395311Human1alternate_id
11614131CV336974single nucleotide variantNM_002472.3(MYH8):c.4433G>A (p.Arg1478His)Hecht syndrome [RCV000274687]|not specified [RCV004827769]uncertain significance171039664810396648Human1alternate_id
11619040CV336978single nucleotide variantNM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln)Hecht syndrome [RCV000320909]|not specified [RCV004827770]uncertain significance171040074910400749Human1alternate_id
11625752CV336979single nucleotide variantNM_002472.3(MYH8):c.2791G>A (p.Glu931Lys)Hecht syndrome [RCV000402897]|not provided [RCV001356565]|not specified [RCV004021687]uncertain significance171040168310401683Human1alternate_id
11654153CV336982single nucleotide variantNM_002472.3(MYH8):c.1989G>A (p.Thr663=)Hecht syndrome [RCV000315475]uncertain significance171040695610406956Human1alternate_id
11613103CV336986single nucleotide variantNM_002472.3(MYH8):c.1416+11T>GHecht syndrome [RCV000265285]uncertain significance171041235910412359Human1alternate_id
11623947CV336987single nucleotide variantNM_002472.3(MYH8):c.1067C>T (p.Thr356Ile)Hecht syndrome [RCV000379745]|not specified [RCV004021688]uncertain significance171041398210413982Human1alternate_id
11619276CV336990single nucleotide variantNM_002472.3(MYH8):c.846G>A (p.Ala282=)Hecht syndrome [RCV000323405]uncertain significance171041444410414444Human1alternate_id
11620553CV336992single nucleotide variantNM_002472.3(MYH8):c.675C>T (p.Ser225=)Hecht syndrome [RCV000338534]|not provided [RCV000884204]benign|likely benign|uncertain significance171041535810415358Human1alternate_id
11614807CV336995single nucleotide variantNM_002472.3(MYH8):c.578G>A (p.Arg193His)Hecht syndrome [RCV000279822]|not provided [RCV000966459]|not specified [RCV000502525]benign|likely benign|uncertain significance171041554210415542Human1alternate_id
407428947CV3413334single nucleotide variantNM_002472.3(MYH8):c.5665G>C (p.Glu1889Gln)Hecht syndrome [RCV004594740]uncertain significance171039060310390603Human1alternate_id
11624501CV343188single nucleotide variantNM_002472.3(MYH8):c.*76G>CHecht syndrome [RCV000387032]|not provided [RCV001590956]likely benign171039037810390378Human1alternate_id
11625853CV343189single nucleotide variantNM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln)Hecht syndrome [RCV000404045]|not specified [RCV004639215]uncertain significance171039442110394421Human1alternate_id
11656253CV343194single nucleotide variantNM_002472.3(MYH8):c.4249C>G (p.Leu1417Val)Hecht syndrome [RCV000332157]uncertain significance171039691610396916Human1alternate_id
11612521CV343195single nucleotide variantNM_002472.3(MYH8):c.4003G>A (p.Ala1335Thr)Hecht syndrome [RCV000260074]uncertain significance171039861910398619Human1alternate_id
11618733CV343200single nucleotide variantNM_002472.3(MYH8):c.3703A>G (p.Ser1235Gly)Hecht syndrome [RCV000317571]uncertain significance171040042210400422Human1alternate_id
11623821CV343203single nucleotide variantNM_002472.3(MYH8):c.3340T>C (p.Leu1114=)Hecht syndrome [RCV000377907]|not provided [RCV000907735]benign|uncertain significance171040087410400874Human1alternate_id
11626164CV343204single nucleotide variantNM_002472.3(MYH8):c.3254+8C>AHecht syndrome [RCV000408074]uncertain significance171040103810401038Human1alternate_id
11612658CV343208single nucleotide variantNM_002472.3(MYH8):c.1833G>A (p.Leu611=)Hecht syndrome [RCV000261558]|not provided [RCV003409506]likely benign|uncertain significance171040934310409343Human1alternate_id
11617032CV343209single nucleotide variantNM_002472.3(MYH8):c.1731G>C (p.Glu577Asp)Hecht syndrome [RCV000300494]|not provided [RCV000964359]benign|likely benign171040944510409445Human1alternate_id
11619230CV343210single nucleotide variantNM_002472.3(MYH8):c.1268T>G (p.Val423Gly)Hecht syndrome [RCV000322772]|not provided [RCV002227152]|not specified [RCV005372284]uncertain significance171041251810412518Human1alternate_id
11620298CV343213single nucleotide variantNM_002472.3(MYH8):c.501C>T (p.Phe167=)Hecht syndrome [RCV000334972]uncertain significance171041865510418655Human1alternate_id
11635744CV343214single nucleotide variantNM_002472.3(MYH8):c.203G>T (p.Gly68Val)Hecht syndrome [RCV000391045]uncertain significance171042002510420025Human1alternate_id
11621561CV343221single nucleotide variantNM_002472.3(MYH8):c.-31G>AHecht syndrome [RCV000349915]|not provided [RCV004709559]benign|likely benign171042166310421663Human1alternate_id
11631339CV344821single nucleotide variantNM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys)Hecht syndrome [RCV000373016]|not provided [RCV000931653]|not specified [RCV004021685]likely benign|uncertain significance171039257110392571Human1alternate_id
11629980CV344822single nucleotide variantNM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg)Carney complex - trismus - pseudocamptodactyly syndrome [RCV005396960]|Hecht syndrome [RCV000338321]likely benign|uncertain significance171039285910392859Human2alternate_id
11631309CV344831single nucleotide variantNM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr)Hecht syndrome [RCV000374507]uncertain significance171040057510400575Human1alternate_id
11627417CV344833single nucleotide variantNM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser)Hecht syndrome [RCV000282382]|not provided [RCV004694302]uncertain significance171040073710400737Human1alternate_id
11631162CV344835single nucleotide variantNM_002472.3(MYH8):c.2117G>A (p.Arg706His)Hecht syndrome [RCV000369012]|MYH8-related disorder [RCV003969911]|not provided [RCV004703703]benign|likely benign|uncertain significance171040674410406744Human1alternate_id
408394305CV3521920single nucleotide variantNM_002472.3(MYH8):c.902T>C (p.Ile301Thr)Hecht syndrome [RCV004764719]uncertain significance171041438810414388Human1alternate_id
597664213CV3564836single nucleotide variantNM_002472.3(MYH8):c.4094C>G (p.Ser1365Cys)Carney complex - trismus - pseudocamptodactyly syndrome [RCV005392901]|not specified [RCV004828886]uncertain significance171039852810398528Human1alternate_id
12854321CV384624deletionNM_002472.3(MYH8):c.1408del (p.Ile470fs)Hecht syndrome [RCV004584384]|not provided [RCV000593687]likely benign|uncertain significance171041237810412378Human1alternate_id
598218262CV3893753single nucleotide variantNM_002472.3(MYH8):c.2303T>C (p.Phe768Ser)Hecht syndrome [RCV005256487]uncertain significance171040617010406170Human1alternate_id
598244905CV3895962single nucleotide variantNM_002472.3(MYH8):c.1147+2T>AHecht syndrome [RCV005365731]uncertain significance171041390010413900Human1alternate_id
598227377CV3895963single nucleotide variantNM_002472.3(MYH8):c.355-2A>GHecht syndrome [RCV005362231]uncertain significance171041880310418803Human1alternate_id
617151738CV4022758single nucleotide variantNM_002472.3(MYH8):c.2572G>T (p.Glu858Ter)Hecht syndrome [RCV005430831]likely pathogenic171040444610404446Human1alternate_id
13462474CV438784single nucleotide variantNM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)Hecht syndrome [RCV001115383]|MYH8-related disorder [RCV003915429]|not provided [RCV000514232]|not specified [RCV001726206]benign|likely benign171039259710392597Human1alternate_id
14693118CV620568single nucleotide variantNM_002472.3(MYH8):c.1973T>A (p.Leu658Ter)Hecht syndrome [RCV000778484]uncertain significance171040697210406972Humanalternate_id
14693120CV620569deletionNM_002472.3(MYH8):c.1486_1487del (p.Met496fs)Hecht syndrome [RCV000778485]uncertain significance171041087710410878Humanalternate_id
14693121CV620570single nucleotide variantNM_002472.3(MYH8):c.1432C>T (p.Gln478Ter)Hecht syndrome [RCV000778486]uncertain significance171041093210410932Humanalternate_id
14693574CV620882single nucleotide variantNM_002472.3(MYH8):c.3735+2T>AHecht syndrome [RCV000779202]uncertain significance171040038810400388Humanalternate_id
14695890CV622438single nucleotide variantNM_002472.3(MYH8):c.977T>C (p.Ile326Thr)Arthrogryposis, distal, type 1A [RCV000785100]|Carney complex - trismus - pseudocamptodactyly syndrome [RCV000785101]|Hecht syndrome [RCV001116994]uncertain significance171041422310414223Human3alternate_id
15164854CV703933single nucleotide variantNM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn)Hecht syndrome [RCV001120053]|not provided [RCV000948447]benign|likely benign|uncertain significance171039528210395282Human1alternate_id
15192916CV703934single nucleotide variantNM_002472.3(MYH8):c.1632T>C (p.Pro544=)Carney complex - trismus - pseudocamptodactyly syndrome [RCV002489324]|Hecht syndrome [RCV001115563]|MYH8-related disorder [RCV003960662]|not provided [RCV000955215]benign|likely benign171040954410409544Human2alternate_id
15147920CV715215single nucleotide variantNM_002472.3(MYH8):c.5459C>T (p.Ala1820Val)Hecht syndrome [RCV001115384]|not provided [RCV000967437]benign|conflicting interpretations of pathogenicity|uncertain significance171039283510392835Human1alternate_id
15176094CV715218single nucleotide variantNM_002472.3(MYH8):c.1318C>T (p.Leu440=)Hecht syndrome [RCV001115566]|not provided [RCV000973106]likely benign|uncertain significance171041246810412468Human1alternate_id
15135955CV715220single nucleotide variantNM_002472.3(MYH8):c.143C>T (p.Ser48Phe)Hecht syndrome [RCV001115655]|MYH8-related disorder [RCV003943143]|not provided [RCV000965371]benign|likely benign|uncertain significance171042008510420085Human1alternate_id
15108568CV726970single nucleotide variantNM_002472.3(MYH8):c.4499C>T (p.Thr1500Met)Hecht syndrome [RCV001120054]|not provided [RCV000893692]benign|likely benign171039658210396582Human1alternate_id
15169659CV755591single nucleotide variantNM_002472.3(MYH8):c.1815T>A (p.Asn605Lys)Hecht syndrome [RCV001120472]|not provided [RCV000927544]benign|likely benign171040936110409361Human1alternate_id
15197081CV755594single nucleotide variantNM_002472.3(MYH8):c.954G>C (p.Gln318His)Hecht syndrome [RCV001116996]|MYH8-related disorder [RCV003932994]|not provided [RCV000911878]likely benign|uncertain significance171041424610414246Human1alternate_id
15103400CV755595single nucleotide variantNM_002472.3(MYH8):c.479T>A (p.Ile160Asn)Carney complex - trismus - pseudocamptodactyly syndrome [RCV002502761]|not provided [RCV000915152]likely benign171041867710418677Human1alternate_id
15198398CV776241single nucleotide variantNM_002472.3(MYH8):c.539+1G>AHecht syndrome [RCV005359672]|not provided [RCV000934798]pathogenic|likely benign|uncertain significance171041568010415680Human1alternate_id
28894111CV876354single nucleotide variantNM_002472.3(MYH8):c.*33G>CHecht syndrome [RCV001121957]uncertain significance171039042110390421Human1alternate_id
28894113CV876355single nucleotide variantNM_002472.3(MYH8):c.*19A>GHecht syndrome [RCV001121958]uncertain significance171039043510390435Human1alternate_id
28874268CV876356single nucleotide variantNM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln)Hecht syndrome [RCV001115382]uncertain significance171039256710392567Human1alternate_id
28883712CV876357single nucleotide variantNM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu)Hecht syndrome [RCV001118527]|Neuromuscular disease [RCV004797626]uncertain significance171039318310393183Human2alternate_id
28883719CV876358single nucleotide variantNM_002472.3(MYH8):c.5115C>T (p.Ala1705=)Hecht syndrome [RCV001118528]uncertain significance171039430010394300Human1alternate_id
28883724CV876359single nucleotide variantNM_002472.3(MYH8):c.5112C>A (p.Ile1704=)Hecht syndrome [RCV001118529]uncertain significance171039430310394303Human1alternate_id
28883728CV876360single nucleotide variantNM_002472.3(MYH8):c.5025A>G (p.Ala1675=)Hecht syndrome [RCV001118530]uncertain significance171039439010394390Human1alternate_id
28888836CV876361single nucleotide variantNM_002472.3(MYH8):c.4878T>C (p.Asn1626=)Hecht syndrome [RCV001120052]|MYH8-related disorder [RCV003906225]|not provided [RCV004693748]likely benign|uncertain significance171039521710395217Human1alternate_id
28889765CV876362single nucleotide variantNM_002472.3(MYH8):c.4147A>G (p.Ile1383Val)Hecht syndrome [RCV001120362]|MYH8-related disorder [RCV003953498]|not provided [RCV005243473]|not specified [RCV004032223]likely benign|uncertain significance171039847510398475Human1alternate_id
28889769CV876363single nucleotide variantNM_002472.3(MYH8):c.3918G>A (p.Arg1306=)Hecht syndrome [RCV001120364]uncertain significance171039883110398831Human1alternate_id
28874447CV876364single nucleotide variantNM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg)Hecht syndrome [RCV001115463]uncertain significance171039965110399651Human1alternate_id
28874452CV876365single nucleotide variantNM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg)Hecht syndrome [RCV001115465]uncertain significance171040044510400445Human1alternate_id
28874454CV876366single nucleotide variantNM_002472.3(MYH8):c.3643C>A (p.Arg1215=)Hecht syndrome [RCV001115466]uncertain significance171040048210400482Human1alternate_id
28874457CV876367single nucleotide variantNM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser)Hecht syndrome [RCV001115468]uncertain significance171040065610400656Human1alternate_id
28884033CV876368single nucleotide variantNM_002472.3(MYH8):c.3423C>T (p.Asp1141=)Hecht syndrome [RCV001118626]uncertain significance171040070210400702Human1alternate_id
28884040CV876369single nucleotide variantNM_002472.3(MYH8):c.3408G>A (p.Glu1136=)Hecht syndrome [RCV001118627]uncertain significance171040071710400717Human1alternate_id
28889190CV876370single nucleotide variantNM_002472.3(MYH8):c.3151C>G (p.Leu1051Val)Hecht syndrome [RCV001120169]uncertain significance171040114910401149Human1alternate_id
28889191CV876371single nucleotide variantNM_002472.3(MYH8):c.2439A>G (p.Ala813=)Hecht syndrome [RCV001120170]uncertain significance171040457910404579Human1alternate_id
28889195CV876372single nucleotide variantNM_002472.3(MYH8):c.2317C>T (p.Leu773=)Hecht syndrome [RCV001120171]uncertain significance171040615610406156Human1alternate_id
28890047CV876373single nucleotide variantNM_002472.3(MYH8):c.1899T>C (p.Asp633=)Hecht syndrome [RCV001120471]uncertain significance171040916310409163Human1alternate_id
28890051CV876374single nucleotide variantNM_002472.3(MYH8):c.1803G>T (p.Lys601Asn)Hecht syndrome [RCV001120473]uncertain significance171040937310409373Human1alternate_id
28874674CV876375single nucleotide variantNM_002472.3(MYH8):c.1583A>G (p.Glu528Gly)Hecht syndrome [RCV001115565]|not specified [RCV004827791]uncertain significance171041078110410781Human1alternate_id
28874679CV876376single nucleotide variantNM_002472.3(MYH8):c.1150G>A (p.Ala384Thr)Hecht syndrome [RCV001115567]uncertain significance171041272610412726Human1alternate_id
28878706CV876377single nucleotide variantNM_002472.3(MYH8):c.1054A>C (p.Ile352Leu)Hecht syndrome [RCV001116992]|not specified [RCV004032202]uncertain significance171041399510413995Human1alternate_id
28878712CV876378single nucleotide variantNM_002472.3(MYH8):c.1034C>G (p.Thr345Ser)Hecht syndrome [RCV001116993]|not specified [RCV004032203]uncertain significance171041401510414015Human1alternate_id
28878718CV876379single nucleotide variantNM_002472.3(MYH8):c.959A>T (p.Glu320Val)Hecht syndrome [RCV001116995]|not specified [RCV004827792]uncertain significance171041424110414241Human1alternate_id
28889461CV876380single nucleotide variantNM_002472.3(MYH8):c.851G>T (p.Arg284Ile)Hecht syndrome [RCV001120264]uncertain significance171041443910414439Human1alternate_id
28889469CV876381single nucleotide variantNM_002472.3(MYH8):c.676G>A (p.Ala226Thr)Hecht syndrome [RCV001120266]|not provided [RCV001560486]likely benign|uncertain significance171041535710415357Human1alternate_id
28890305CV876382single nucleotide variantNM_002472.3(MYH8):c.399G>T (p.Trp133Cys)Hecht syndrome [RCV001120565]uncertain significance171041875710418757Human1alternate_id
28890307CV876383single nucleotide variantNM_002472.3(MYH8):c.304C>G (p.Pro102Ala)Hecht syndrome [RCV001120566]|MYH8-related disorder [RCV003938469]likely benign|uncertain significance171041893710418937Human1alternate_id
28890310CV876384single nucleotide variantNM_002472.3(MYH8):c.277A>G (p.Met93Val)Hecht syndrome [RCV001120567]|not provided [RCV003130158]|not specified [RCV004032224]uncertain significance171041896410418964Human1alternate_id
28890315CV876385single nucleotide variantNM_002472.3(MYH8):c.254C>T (p.Pro85Leu)Hecht syndrome [RCV001120568]|not specified [RCV004032225]uncertain significance171041898710418987Human1alternate_id
28874885CV876386single nucleotide variantNM_002472.3(MYH8):c.172G>C (p.Glu58Gln)Hecht syndrome [RCV001115654]uncertain significance171042005610420056Human1alternate_id
28874888CV876387single nucleotide variantNM_002472.3(MYH8):c.76C>A (p.Arg26=)Hecht syndrome [RCV001115656]uncertain significance171042015210420152Human1alternate_id
28874891CV876388single nucleotide variantNM_002472.3(MYH8):c.59G>A (p.Arg20Gln)Hecht syndrome [RCV001115657]|not provided [RCV001759881]|not specified [RCV004032196]uncertain significance171042016910420169Human1alternate_id
28878994CV876389single nucleotide variantNM_002472.3(MYH8):c.-93T>GHecht syndrome [RCV001117080]|not provided [RCV003405325]benign|uncertain significance171042194810421948Human1alternate_id
28874671CV876746single nucleotide variantNM_002472.3(MYH8):c.1587+4G>AHecht syndrome [RCV001115564]uncertain significance171041077310410773Human1alternate_id
28878702CV876747single nucleotide variantNM_002472.3(MYH8):c.1147+14C>GHecht syndrome [RCV001116991]uncertain significance171041388810413888Human1alternate_id
28874893CV876748single nucleotide variantNM_002472.3(MYH8):c.-31+9T>CHecht syndrome [RCV001115658]uncertain significance171042165410421654Human1alternate_id
40815479CV971064single nucleotide variantNM_002472.3(MYH8):c.797T>C (p.Ile266Thr)Hecht syndrome [RCV001262909]uncertain significance171041512410415124Human1alternate_id
8644123CV103467deletionNM_000431.3(MVK):c.16_34del19 (p.Leu6Glyfs)Hyperimmunoglobulin D with periodic fever [RCV000083827]not provided12109574838109574856Humanalternate_id
151662979CV1330810variationMVK, TYR116HISHyperimmunoglobulin D with periodic fever [RCV001824546]pathogenicHumanalternate_id
151662980CV1330811variationG326RHyperimmunoglobulin D with periodic fever [RCV001824547]pathogenicHumanalternate_id
8565286CV30918duplicationHBA1, 21-BP INS-DUPAlpha plus thalassemia [RCV000017225]pathogenicHumanalternate_id
8565287CV30919deletionNM_000558.5(HBA1):c.196_228del (p.Ala66_Asp76del)Alpha-thalassemia, Dutch type [RCV000017226]pathogenic16177025177057Human1trait
8600877CV33126single nucleotide variantNM_000484.4(APP):c.2077G>C (p.Glu693Gln)ABeta amyloidosis, dutch type [RCV000019713]|Alzheimer disease [RCV001386879]|Cerebral amyloid angiopathy, APP-related [RCV002272024]pathogenic212589185625891856Human4trait , alternate_id
41405876CV981947duplicationNM_000558.5(HBA1):c.283_300+3dupAlpha-thalassemia, Dutch type [RCV000017225]|not provided [RCV003736542]pathogenic16177111177112Human1trait
150529788CV1289758single nucleotide variantNM_000484.4(APP):c.1409G>A (p.Arg470His)Cerebral amyloid angiopathy, APP-related [RCV001730165]uncertain significance212597511925975119Human1alternate_id
9687350CV132725duplicationNC_000021.7:g.13636378_28138533dupAlzheimer disease [RCV000148341]pathogenicHuman2alternate_id
151874286CV1369461single nucleotide variantNM_000484.4(APP):c.1450C>T (p.Pro484Ser)Alzheimer disease [RCV002036063]|Cerebral amyloid angiopathy, APP-related [RCV002486775]likely benign|uncertain significance212597507825975078Human3alternate_id
152122779CV1587137single nucleotide variantNM_000484.4(APP):c.1458+18C>TAlzheimer disease [RCV002135924]|Cerebral amyloid angiopathy, APP-related [RCV002494451]benign|likely benign212597505225975052Human3alternate_id
401931302CV2795875single nucleotide variantNM_000484.4(APP):c.2061A>C (p.Lys687Asn)Cerebral amyloid angiopathy, APP-related [RCV003397222]likely pathogenic212589757625897576Human1alternate_id
8600878CV33127single nucleotide variantNM_000484.4(APP):c.2149G>A (p.Val717Ile)Alzheimer disease [RCV000020308]|Alzheimer disease type 1 [RCV000019714]|Cerebral amyloid angiopathy, APP-related [RCV002496421]|Cerebral amyloid angiopathy, APP-related [RCV003993747]|not provided [RCV000084575]pathogenic|not provided212589178425891784Human4alternate_id
8600883CV33133single nucleotide variantNM_000484.4(APP):c.2137G>A (p.Ala713Thr)Alzheimer disease [RCV000547582]|Alzheimer disease type 1 [RCV000019721]|Cerebral amyloid angiopathy, APP-related [RCV002272025]|Primary degenerative dementia of the Alzheimer type, presenile onset [RCV000826088]|not provided [RCV000084566]pathogenic|likely pathogenic|uncertain significance|not provided212589179625891796Human5alternate_id
8600890CV33140single nucleotide variantNM_000484.4(APP):c.2080G>A (p.Asp694Asn)ABeta amyloidosis, Iowa type [RCV000019729]|Alzheimer disease [RCV000687111]|Cerebral amyloid angiopathy, APP-related [RCV005416108]|not provided [RCV000084564]pathogenic|not provided212589185325891853Human4alternate_id
8600892CV33142single nucleotide variantNM_000484.4(APP):c.2113C>G (p.Leu705Val)CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT [RCV000019731]|Cerebral amyloid angiopathy, APP-related [RCV003987327]|not provided [RCV000084565]pathogenic|likely pathogenic|not provided212589182025891820Human1alternate_id
407429086CV3413473single nucleotide variantNM_000484.4(APP):c.752G>T (p.Gly251Val)Cerebral amyloid angiopathy, APP-related [RCV004594881]uncertain significance212602195326021953Human1alternate_id
11630832CV346257single nucleotide variantNM_000484.4(APP):c.674T>C (p.Val225Ala)Alzheimer disease [RCV000360656]|Cerebral amyloid angiopathy, APP-related [RCV002488730]uncertain significance212602203126022031Human3alternate_id
11628579CV346275single nucleotide variantNM_000484.3(APP):c.-199G>ACerebral amyloid angiopathy, APP-related [RCV001196114]|Early-onset autosomal dominant Alzheimer disease [RCV000305111]uncertain significance212617081926170819Human2alternate_id
407573853CV3498185duplicationNC_000021.8:g.(?_27252860)_(27543089_?)dupCerebral amyloid angiopathy, APP-related [RCV004702174]pathogenicHuman1alternate_id
11627554CV350521single nucleotide variantNM_000484.4(APP):c.2124C>T (p.Gly708=)APP POLYMORPHISM [RCV000019719]|Alzheimer disease [RCV001082457]|Cerebral amyloid angiopathy, APP-related [RCV002488729]|not provided [RCV000710591]|not specified [RCV001580125]benign|likely benign212589180925891809Human4alternate_id
11630936CV350533single nucleotide variantNM_000484.4(APP):c.-170C>ACerebral amyloid angiopathy, APP-related [RCV002487498]|Early-onset autosomal dominant Alzheimer disease [RCV000363694]uncertain significance212617079026170790Human3alternate_id
11631913CV351567single nucleotide variantNM_000484.4(APP):c.1840A>G (p.Ser614Gly)Alzheimer disease [RCV000873921]|Cerebral amyloid angiopathy, APP-related [RCV002504144]|not specified [RCV001288436]benign|likely benign212591181025911810Human3alternate_id
596925877CV3542139single nucleotide variantNM_000484.4(APP):c.2059A>C (p.Lys687Gln)Cerebral amyloid angiopathy, APP-related [RCV004795856]likely pathogenic212589757825897578Human1alternate_id
597655252CV3552213single nucleotide variantNM_000484.4(APP):c.892G>A (p.Gly298Arg)Cerebral amyloid angiopathy, APP-related [RCV004821071]uncertain significance212600015626000156Human1alternate_id
598160537CV3897296single nucleotide variantNM_000484.4(APP):c.1958G>A (p.Arg653Gln)Cerebral amyloid angiopathy, APP-related [RCV005368265]uncertain significance212590502925905029Human1alternate_id
14702455CV626283single nucleotide variantNM_000484.4(APP):c.2125G>A (p.Gly709Ser)Alzheimer disease [RCV001869244]|Cerebral amyloid angiopathy, APP-related [RCV000790930]|Hereditary cerebral hemorrhage with amyloidosis [RCV000790931]likely pathogenic|uncertain significance212589180825891808Human4alternate_id
15127447CV694611single nucleotide variantNM_000484.4(APP):c.2148C>T (p.Ile716=)APP-related disorder [RCV003930419]|Alzheimer disease [RCV002064802]|Cerebral amyloid angiopathy, APP-related [RCV002501339]|Inborn genetic diseases [RCV004027862]|not provided [RCV000875311]|not specified [RCV004702496]likely benign212589178525891785Human6alternate_id
26915695CV848661single nucleotide variantNM_000484.4(APP):c.1037C>A (p.Ser346Tyr)Alzheimer disease [RCV001055875]|Cerebral amyloid angiopathy, APP-related [RCV002482007]uncertain significance212599741325997413Human3alternate_id
28897442CV886665single nucleotide variantNM_000484.4(APP):c.704C>T (p.Ala235Val)Alzheimer disease [RCV001141587]|Cerebral amyloid angiopathy, APP-related [RCV001196235]|not provided [RCV004809024]likely benign|uncertain significance212602200126022001Human3alternate_id
28883123CV886667single nucleotide variantNM_000484.4(APP):c.47G>A (p.Arg16Gln)Alzheimer disease [RCV001136836]|Cerebral amyloid angiopathy, APP-related [RCV002497546]|not provided [RCV001355941]uncertain significance212617057426170574Human3alternate_id
8565148CV30718single nucleotide variantNM_000517.6(HBA2):c.96-2A>GAlpha-thalassemia, Dutch type [RCV000016968]|Heinz body anemia [RCV002482879]|not provided [RCV001572897]pathogenic16173123173123Human3trait
8565153CV30726single nucleotide variantNM_000517.6(HBA2):c.69C>T (p.Gly23=)Alpha-thalassemia, Dutch type [RCV000016977]|alpha Thalassemia [RCV001275678]|not provided [RCV000759057]pathogenic|likely pathogenic16172981172981Human2trait
8654748CV30727single nucleotide variantNM_000517.6(HBA2):c.178G>C (p.Gly60Arg)Alpha-thalassemia, Dutch type [RCV000016979]|HEMOGLOBIN ZURICH ALBISRIEDEN [RCV000016978]|alpha Thalassemia [RCV002051788]|not provided [RCV003736541]pathogenic|likely pathogenic|other16173207173207Human2trait