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Pathways
Variants search result for Homo sapiens
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More than 1000 records found for search term Trpm4 (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
408388851CV3520931single nucleotide variantNM_017636.4(TRPM4):c.-3A>Tnot provided [RCV004761764]uncertain significance194915786449157864Humanname
597833216CV3734922single nucleotide variantNM_017636.4(TRPM4):c.-4C>Anot provided [RCV005054655]uncertain significance194915786349157863Humanname
28873184CV882322single nucleotide variantNM_017636.4(TRPM4):c.*6G>AProgressive familial heart block type IB [RCV001132711]uncertain significance194921150449211504Human1name
150483599CV1210160single nucleotide variantNM_017636.4(TRPM4):c.*80C>Tnot provided [RCV001590859]likely benign194921157849211578Humanname
11549977CV257190single nucleotide variantNM_017636.4(TRPM4):c.-12G>AProgressive familial heart block type IB [RCV000395241]|not provided [RCV004717123]|not specified [RCV000251128]benign|likely benign194915785549157855Human1name
11625324CV344007single nucleotide variantNM_017636.4(TRPM4):c.*81G>TProgressive familial heart block type IB [RCV000397602]uncertain significance194921157949211579Humanname
11630119CV350225single nucleotide variantNM_017636.4(TRPM4):c.*12G>AProgressive familial heart block type IB [RCV000340959]uncertain significance194921151049211510Human1name
11628454CV350226single nucleotide variantNM_017636.4(TRPM4):c.*84C>TProgressive familial heart block type IB [RCV000301447]uncertain significance194921158249211582Human1name
28873188CV882323single nucleotide variantNM_017636.4(TRPM4):c.*15C>GProgressive familial heart block type IB [RCV001132712]|not specified [RCV005419007]benign|uncertain significance194921151349211513Human1name
127303714CV1148989single nucleotide variantNM_017636.4(TRPM4):c.93-4C>ACardiovascular phenotype [RCV002377873]|Progressive familial heart block type IB [RCV001499466]likely benign|uncertain significance194916603749166037Human1name
156407930CV1873116single nucleotide variantNM_017636.4(TRPM4):c.92+5G>CProgressive familial heart block type IB [RCV003071073]uncertain significance194915826449158264Human1name
156197007CV2005733single nucleotide variantNM_017636.4(TRPM4):c.25-6C>AProgressive familial heart block type IB [RCV002643500]likely benign194915818649158186Human1name
405037299CV2942026single nucleotide variantNM_017636.4(TRPM4):c.93-7C>TProgressive familial heart block type IB [RCV003609432]likely benign194916603449166034Human1name
405709218CV3381468single nucleotide variantNM_017636.4(TRPM4):c.92+3G>ACardiovascular phenotype [RCV004522202]uncertain significance194915826249158262Humanname
11630648CV349260single nucleotide variantNM_017636.4(TRPM4):c.*119C>TProgressive familial heart block type IB [RCV000353933]|not provided [RCV004694443]uncertain significance194921161749211617Human1name
11629938CV350201single nucleotide variantNM_017636.3(TRPM4):c.-107G>TProgressive familial heart block [RCV000336563]|not provided [RCV002263047]benign|conflicting interpretations of pathogenicity|uncertain significance194915776049157760Human1name
12834852CV377817single nucleotide variantNM_017636.4(TRPM4):c.24+6C>GProgressive familial heart block type IB [RCV000645460]|not provided [RCV001700114]likely benign|uncertain significance194915789649157896Human1name
597908609CV3843089single nucleotide variantNM_017636.4(TRPM4):c.92+1G>AProgressive familial heart block type IB [RCV005182397]uncertain significance194915826049158260Human1name
13531813CV507482single nucleotide variantNM_017636.4(TRPM4):c.24+7G>AProgressive familial heart block type IB [RCV001412990]|not specified [RCV000606598]likely benign194915789749157897Human1name
14710654CV653622single nucleotide variantNM_017636.4(TRPM4):c.24+5G>AProgressive familial heart block type IB [RCV000815366]uncertain significance194915789549157895Human1name
14722264CV668907single nucleotide variantNM_017636.3(TRPM4):c.-262C>Tnot provided [RCV000832027]likely benign194915760549157605Humanname
14727082CV669940single nucleotide variantNM_017636.3(TRPM4):c.-235A>Gnot provided [RCV000834153]benign194915763249157632Humanname
28873190CV882324single nucleotide variantNM_017636.4(TRPM4):c.*116G>CProgressive familial heart block type IB [RCV001132713]uncertain significance194921161449211614Human1name
28880972CV882325single nucleotide variantNM_017636.4(TRPM4):c.*180G>AProgressive familial heart block type IB [RCV001136113]uncertain significance194921167849211678Human1name
28880976CV882326single nucleotide variantNM_017636.4(TRPM4):c.*234C>TProgressive familial heart block type IB [RCV001136114]uncertain significance194921173249211732Human1name
28880977CV882327single nucleotide variantNM_017636.4(TRPM4):c.*316G>AProgressive familial heart block type IB [RCV001136115]|Progressive familial heart block type IB [RCV002491406]uncertain significance194921181449211814Human1name
126737742CV1013829single nucleotide variantNM_017636.4(TRPM4):c.268-1G>ACardiovascular phenotype [RCV002438703]|Progressive familial heart block type IB [RCV001314021]uncertain significance194916791649167916Human1name
127232493CV1084894single nucleotide variantNM_017636.4(TRPM4):c.268-6C>TProgressive familial heart block type IB [RCV001413479]likely benign194916791149167911Human1name
127304735CV1158633single nucleotide variantNM_017636.4(TRPM4):c.613-5C>TCardiovascular phenotype [RCV002359143]|Progressive familial heart block type IB [RCV001516010]benign|likely benign194916854849168548Human1name
150470563CV1258610single nucleotide variantNM_017636.4(TRPM4):c.92+31A>GErythrokeratodermia variabilis et progressiva 6 [RCV001838767]|Progressive familial heart block type IB [RCV001838766]|not provided [RCV001684155]benign194915829049158290Human2name
151811483CV1417473single nucleotide variantNM_017636.4(TRPM4):c.267+7C>TProgressive familial heart block type IB [RCV002029012]uncertain significance194916622249166222Human1name
151864338CV1498729single nucleotide variantNM_017636.4(TRPM4):c.858+3A>GProgressive familial heart block type IB [RCV001980531]uncertain significance194917142149171421Human1name
152111742CV1532101single nucleotide variantNM_017636.4(TRPM4):c.93-13C>TProgressive familial heart block type IB [RCV002116632]likely benign194916602849166028Human1name
152065452CV1583433single nucleotide variantNM_017636.4(TRPM4):c.24+15A>GProgressive familial heart block type IB [RCV002110722]likely benign194915790549157905Human1name
152054452CV1590733single nucleotide variantNM_017636.4(TRPM4):c.24+10G>AProgressive familial heart block type IB [RCV002109370]likely benign194915790049157900Human1name
152053553CV1619449single nucleotide variantNM_017636.4(TRPM4):c.859-4G>ACardiovascular phenotype [RCV002443098]|Progressive familial heart block type IB [RCV002167165]likely benign|uncertain significance194917157449171574Human1name
152090743CV1662010single nucleotide variantNM_017636.4(TRPM4):c.92+11C>AProgressive familial heart block type IB [RCV002132012]benign194915827049158270Human1name
155964907CV1882017single nucleotide variantNM_017636.4(TRPM4):c.93-17C>TProgressive familial heart block type IB [RCV003074881]likely benign194916602449166024Human1name
156148143CV1895265single nucleotide variantNM_017636.4(TRPM4):c.448+7G>AProgressive familial heart block type IB [RCV003082454]likely benign194916810449168104Human1name
156360215CV1904333single nucleotide variantNM_017636.4(TRPM4):c.612+6A>TProgressive familial heart block type IB [RCV002581674]uncertain significance194916842949168429Human1name
156217527CV2035455deletionNM_017636.4(TRPM4):c.858+9delProgressive familial heart block type IB [RCV002766861]benign194917142449171424Human1name
155922763CV2073779single nucleotide variantNM_017636.4(TRPM4):c.92+13C>TProgressive familial heart block type IB [RCV002838391]likely benign194915827249158272Human1name
156098512CV2183736single nucleotide variantNM_017636.4(TRPM4):c.25-14G>TProgressive familial heart block type IB [RCV003054633]likely benign194915817849158178Human1name
11346578CV243372single nucleotide variantNM_017636.4(TRPM4):c.448+6C>TProgressive familial heart block type IB [RCV000229016]|not specified [RCV000426929]benign|likely benign194916810349168103Human1name
402468014CV2868093single nucleotide variantNM_017636.4(TRPM4):c.267+1G>AProgressive familial heart block type IB [RCV003503732]uncertain significance194916621649166216Human1name
402470624CV2883236single nucleotide variantNM_017636.4(TRPM4):c.268-7T>CProgressive familial heart block type IB [RCV003504387]likely benign194916791049167910Human1name
402470856CV2890867single nucleotide variantNM_017636.4(TRPM4):c.24+10G>CProgressive familial heart block type IB [RCV003504488]likely benign194915790049157900Human1name
402470116CV2892715single nucleotide variantNM_017636.4(TRPM4):c.93-20C>GProgressive familial heart block type IB [RCV003504306]likely benign194916602149166021Human1name
405131825CV2902976single nucleotide variantNM_017636.4(TRPM4):c.93-10G>AProgressive familial heart block type IB [RCV003502220]likely benign194916603149166031Human1name
405044184CV2967131single nucleotide variantNM_017636.4(TRPM4):c.268-3C>TProgressive familial heart block type IB [RCV003610033]uncertain significance194916791449167914Human1name
405049488CV2979751single nucleotide variantNM_017636.4(TRPM4):c.613-8T>AProgressive familial heart block type IB [RCV003610406]likely benign194916854549168545Human1name
405053793CV3047325single nucleotide variantNM_017636.4(TRPM4):c.797-4T>ACardiovascular phenotype [RCV004373999]|Progressive familial heart block type IB [RCV003610771]likely benign194917135349171353Human1name
405042810CV3074570single nucleotide variantNM_017636.4(TRPM4):c.25-13T>CProgressive familial heart block type IB [RCV003609930]likely benign194915817949158179Human1name
405709213CV3381467single nucleotide variantNM_017636.4(TRPM4):c.613-2A>GCardiovascular phenotype [RCV004522201]uncertain significance194916855149168551Humanname
11629093CV350202single nucleotide variantNM_017636.4(TRPM4):c.92+12G>AProgressive familial heart block type IB [RCV000314484]|not specified [RCV000602795]likely benign|conflicting interpretations of pathogenicity|uncertain significance194915827149158271Human1name
12839874CV377589single nucleotide variantNM_017636.4(TRPM4):c.25-10C>TProgressive familial heart block type IB [RCV000864661]|not provided [RCV001704534]likely benign194915818249158182Human1name
597921600CV3808066single nucleotide variantNM_017636.4(TRPM4):c.858+6G>CProgressive familial heart block type IB [RCV005155774]uncertain significance194917142449171424Human1name
597890475CV3839753single nucleotide variantNM_017636.4(TRPM4):c.92+18G>AProgressive familial heart block type IB [RCV005179645]likely benign194915827749158277Human1name
597884072CV3858031single nucleotide variantNM_017636.4(TRPM4):c.448+1G>AProgressive familial heart block type IB [RCV005199459]uncertain significance194916809849168098Human1name
597861928CV3860460single nucleotide variantNM_017636.4(TRPM4):c.24+16G>AProgressive familial heart block type IB [RCV005195988]likely benign194915790649157906Human1name
13540867CV507899single nucleotide variantNM_017636.4(TRPM4):c.92+12G>CProgressive familial heart block type IB [RCV003502539]|not specified [RCV000615314]likely benign194915827149158271Human1name
13533845CV507903single nucleotide variantNM_017636.4(TRPM4):c.93-18C>TProgressive familial heart block type IB [RCV002060620]|not specified [RCV000607209]benign194916602349166023Human1name
14727084CV669944single nucleotide variantNM_017636.4(TRPM4):c.92+66T>Cnot provided [RCV000834154]benign194915832549158325Humanname
14741227CV670069single nucleotide variantNM_017636.4(TRPM4):c.92+17T>CProgressive familial heart block type IB [RCV002538292]|not provided [RCV000840692]likely benign194915827649158276Human1name
38463883CV960296single nucleotide variantNM_017636.4(TRPM4):c.612+1G>AProgressive familial heart block type IB [RCV001235178]|not provided [RCV002224030]uncertain significance194916842449168424Human1name
126762749CV1034405single nucleotide variantNM_017636.4(TRPM4):c.1050+2T>GProgressive familial heart block type IB [RCV001341061]uncertain significance194917177149171771Human1name
126770248CV1034406single nucleotide variantNM_017636.4(TRPM4):c.1263+1G>ACardiovascular phenotype [RCV002447414]|Progressive familial heart block type IB [RCV001344368]|not provided [RCV003169661]uncertain significance194918146249181462Human1name
126761621CV1034411single nucleotide variantNM_017636.4(TRPM4):c.2953+5G>TProgressive familial heart block type IB [RCV001340742]uncertain significance194920079049200790Human1name
126915647CV1051409single nucleotide variantNM_017636.4(TRPM4):c.2778+1G>ACardiovascular phenotype [RCV002438867]|Progressive familial heart block type IB [RCV001371039]|Progressive familial heart block type IB [RCV002493887]uncertain significance194920043349200433Human2name
127265059CV1084897single nucleotide variantNM_017636.4(TRPM4):c.1150+9T>AProgressive familial heart block type IB [RCV001403475]likely benign194917211749172117Human1name
127240082CV1084901single nucleotide variantNM_017636.4(TRPM4):c.3534+9T>CProgressive familial heart block type IB [RCV001397700]likely benign194921109649211096Human1name
127293138CV1128039single nucleotide variantNM_017636.4(TRPM4):c.2645+9C>TProgressive familial heart block type IB [RCV001459144]likely benign194919688349196883Human1name
150337839CV1173277single nucleotide variantNM_017636.4(TRPM4):c.268-23G>AErythrokeratodermia variabilis et progressiva 6 [RCV001838684]|Progressive familial heart block type IB [RCV001838683]|not provided [RCV001541878]benign194916789449167894Human2name
150422120CV1181785single nucleotide variantNM_017636.4(TRPM4):c.859-64T>Cnot provided [RCV001552356]likely benign194917151449171514Humanname
150405948CV1195439single nucleotide variantNM_017636.4(TRPM4):c.267+97C>Tnot provided [RCV001571861]likely benign194916631249166312Humanname
150421933CV1195440single nucleotide variantNM_017636.4(TRPM4):c.858+51A>Gnot provided [RCV001570750]likely benign194917146949171469Humanname
150509623CV1247360single nucleotide variantNM_017636.4(TRPM4):c.268-85C>Tnot provided [RCV001659387]benign194916783249167832Humanname
150437237CV1249836single nucleotide variantNM_017636.4(TRPM4):c.92+162G>Cnot provided [RCV001665750]benign194915842149158421Humanname
150495692CV1283030single nucleotide variantNM_017636.4(TRPM4):c.797-51C>Gnot provided [RCV001717440]benign194917130649171306Humanname
150531726CV1311263single nucleotide variantNM_017636.4(TRPM4):c.268-11T>Anot provided [RCV001776998]uncertain significance194916790649167906Humanname
151775875CV1440252single nucleotide variantNM_017636.4(TRPM4):c.1263+2T>GProgressive familial heart block type IB [RCV001874896]|Progressive familial heart block type IB [RCV002490069]uncertain significance194918146349181463Human1name
151743113CV1478261single nucleotide variantNM_017636.4(TRPM4):c.1051-8T>CProgressive familial heart block type IB [RCV002006012]likely benign|uncertain significance194917200149172001Human1name
151871955CV1480588single nucleotide variantNM_017636.4(TRPM4):c.3329-3C>GProgressive familial heart block type IB [RCV001906605]uncertain significance194921070749210707Human1name
151892540CV1493612single nucleotide variantNM_017636.4(TRPM4):c.2019+5G>ACardiovascular phenotype [RCV002423091]|Progressive familial heart block type IB [RCV001944220]uncertain significance194918909649189096Human1name
151845609CV1498656single nucleotide variantNM_017636.4(TRPM4):c.2020-7C>AProgressive familial heart block type IB [RCV001978235]likely benign|uncertain significance194919020149190201Human1name
151792825CV1511085single nucleotide variantNM_017636.4(TRPM4):c.2210+6T>CProgressive familial heart block type IB [RCV001990238]uncertain significance194919077949190779Human1name
151869591CV1516795single nucleotide variantNM_017636.4(TRPM4):c.448+11G>TProgressive familial heart block type IB [RCV001981125]likely benign|uncertain significance194916810849168108Human1name
152160160CV1522796single nucleotide variantNM_017636.4(TRPM4):c.2133-5G>ACardiovascular phenotype [RCV002416496]|Progressive familial heart block type IB [RCV002140781]likely benign|uncertain significance194919069149190691Human1name
152125449CV1554061single nucleotide variantNM_017636.4(TRPM4):c.268-18G>AProgressive familial heart block type IB [RCV002098754]likely benign194916789949167899Human1name
152138717CV1565201single nucleotide variantNM_017636.4(TRPM4):c.2778+9G>AProgressive familial heart block type IB [RCV002083870]likely benign194920044149200441Human1name
152122768CV1570476single nucleotide variantNM_017636.4(TRPM4):c.3462-7T>GProgressive familial heart block type IB [RCV002217004]likely benign194921100849211008Human1name
152155557CV1579652single nucleotide variantNM_017636.4(TRPM4):c.449-11C>TProgressive familial heart block type IB [RCV002158790]likely benign194916824949168249Human1name
152125588CV1580923single nucleotide variantNM_017636.4(TRPM4):c.858+14G>AProgressive familial heart block type IB [RCV002082170]likely benign194917143249171432Human1name
152128160CV1596502single nucleotide variantNM_017636.4(TRPM4):c.858+11C>TProgressive familial heart block type IB [RCV002118725]likely benign194917142949171429Human1name
152151072CV1605594single nucleotide variantNM_017636.4(TRPM4):c.448+20G>TProgressive familial heart block type IB [RCV002102237]likely benign194916811749168117Human1name
152045338CV1614158single nucleotide variantNM_017636.4(TRPM4):c.448+12T>CProgressive familial heart block type IB [RCV002166211]likely benign194916810949168109Human1name
152052005CV1617284single nucleotide variantNM_017636.4(TRPM4):c.2778+7C>GProgressive familial heart block type IB [RCV002072498]likely benign194920043949200439Human1name
152131988CV1633278single nucleotide variantNM_017636.4(TRPM4):c.613-15C>GProgressive familial heart block type IB [RCV002137042]likely benign194916853849168538Human1name
152027233CV1636124single nucleotide variantNM_017636.4(TRPM4):c.858+13G>AProgressive familial heart block type IB [RCV002085065]likely benign194917143149171431Human1name
152115924CV1637273single nucleotide variantNM_017636.4(TRPM4):c.3535-4G>TProgressive familial heart block type IB [RCV002216128]likely benign194921116049211160Human1name
152163609CV1646640single nucleotide variantNM_017636.4(TRPM4):c.796+11G>AProgressive familial heart block type IB [RCV002160082]likely benign194916874749168747Human1name
152064086CV1652214single nucleotide variantNM_017636.4(TRPM4):c.2132+5G>AProgressive familial heart block type IB [RCV002090642]likely benign194919032549190325Human1name
152145586CV1661741single nucleotide variantNM_017636.4(TRPM4):c.612+15C>TProgressive familial heart block type IB [RCV002157376]likely benign194916843849168438Human1name
152034494CV1669523single nucleotide variantNM_017636.4(TRPM4):c.1264-1G>Cnot provided [RCV002223514]uncertain significance194918257749182577Humanname
155691405CV1786082single nucleotide variantNM_017636.4(TRPM4):c.3535-2A>CCardiovascular phenotype [RCV002459437]uncertain significance194921116249211162Humanname
155718267CV1788608single nucleotide variantNM_017636.4(TRPM4):c.3329-3C>TCardiovascular phenotype [RCV002326449]uncertain significance194921070749210707Humanname
155668458CV1846606single nucleotide variantNM_017636.4(TRPM4):c.2020-5C>ACardiovascular phenotype [RCV002419575]|Progressive familial heart block type IB [RCV003502670]likely benign|uncertain significance194919020349190203Human1name
155748512CV1847171single nucleotide variantNM_017636.4(TRPM4):c.2132+5G>TCardiovascular phenotype [RCV002417798]|Progressive familial heart block type IB [RCV003101073]uncertain significance194919032549190325Human1name
155690723CV1847212single nucleotide variantNM_017636.4(TRPM4):c.2211-5C>TCardiovascular phenotype [RCV002425866]uncertain significance194919643549196435Humanname
155680420CV1853226single nucleotide variantNM_017636.4(TRPM4):c.2778+2T>CCardiovascular phenotype [RCV002439677]uncertain significance194920043449200434Humanname
155687736CV1853698single nucleotide variantNM_017636.4(TRPM4):c.2953+5G>ACardiovascular phenotype [RCV002441894]|Progressive familial heart block type IB [RCV003102917]uncertain significance194920079049200790Human1name
156007480CV1870521single nucleotide variantNM_017636.4(TRPM4):c.796+10C>TProgressive familial heart block type IB [RCV003076899]likely benign194916874649168746Human1name
156014051CV1880762single nucleotide variantNM_017636.4(TRPM4):c.3641-2A>TProgressive familial heart block type IB [RCV003077258]likely benign194921149249211492Human1name
156079550CV1908848single nucleotide variantNM_017636.4(TRPM4):c.2778+7C>AProgressive familial heart block type IB [RCV002591531]likely benign194920043949200439Human1name
155935612CV1916416single nucleotide variantNM_017636.4(TRPM4):c.3131+8C>TProgressive familial heart block type IB [RCV002615283]likely benign194920214949202149Human1name
156048875CV1927236single nucleotide variantNM_017636.4(TRPM4):c.796+15C>TProgressive familial heart block type IB [RCV002637864]likely benign194916875149168751Human1name
156331166CV1954104single nucleotide variantNM_017636.4(TRPM4):c.3461+9G>AProgressive familial heart block type IB [RCV002580007]likely benign194921085149210851Human1name
156222191CV1965503single nucleotide variantNM_017636.4(TRPM4):c.3641-5C>TProgressive familial heart block type IB [RCV002596502]likely benign194921148949211489Human1name
156162450CV1989745single nucleotide variantNM_017636.4(TRPM4):c.1609-3C>TProgressive familial heart block type IB [RCV002642459]uncertain significance194918307549183075Human1name
156405448CV1994399single nucleotide variantNM_017636.4(TRPM4):c.858+20C>TProgressive familial heart block type IB [RCV002658308]likely benign194917143849171438Human1name
155990369CV2026920single nucleotide variantNM_017636.4(TRPM4):c.858+12C>TProgressive familial heart block type IB [RCV002755723]likely benign194917143049171430Human1name
156127376CV2031348single nucleotide variantNM_017636.4(TRPM4):c.3462-1G>TProgressive familial heart block type IB [RCV002740433]uncertain significance194921101449211014Human1name
156110512CV2042523duplicationNM_017636.4(TRPM4):c.2020-5dupProgressive familial heart block type IB [RCV002785380]benign194919019749190198Human1name
156027575CV2048516single nucleotide variantNM_017636.4(TRPM4):c.1051-3C>TProgressive familial heart block type IB [RCV002795887]uncertain significance194917200649172006Human1name
156375432CV2049451single nucleotide variantNM_017636.4(TRPM4):c.3328+8C>TProgressive familial heart block type IB [RCV002814652]likely benign194921041349210413Human1name
155935331CV2057967single nucleotide variantNM_017636.4(TRPM4):c.613-12T>CProgressive familial heart block type IB [RCV002815330]likely benign194916854149168541Human1name
155911131CV2069476deletionNM_017636.4(TRPM4):c.796+16delProgressive familial heart block type IB [RCV002837724]likely benign194916875049168750Human1name
156229595CV2085171single nucleotide variantNM_017636.4(TRPM4):c.1608+4A>GProgressive familial heart block type IB [RCV002876186]uncertain significance194918292649182926Human1name
156318894CV2111847single nucleotide variantNM_017636.4(TRPM4):c.796+10C>GProgressive familial heart block type IB [RCV002937620]likely benign194916874649168746Human1name
156014221CV2123116single nucleotide variantNM_017636.4(TRPM4):c.2020-5C>GProgressive familial heart block type IB [RCV002975813]likely benign194919020349190203Human1name
156354714CV2129058single nucleotide variantNM_017636.4(TRPM4):c.1874-7G>AProgressive familial heart block type IB [RCV002966568]likely benign194918893949188939Human1name
156324091CV2134378single nucleotide variantNM_017636.4(TRPM4):c.448+16T>GProgressive familial heart block type IB [RCV002963406]likely benign194916811349168113Human1name
156213996CV2142189single nucleotide variantNM_017636.4(TRPM4):c.449-13G>AProgressive familial heart block type IB [RCV002985709]uncertain significance194916824749168247Human1name
156135050CV2169423single nucleotide variantNM_017636.4(TRPM4):c.858+17G>AProgressive familial heart block type IB [RCV003022319]likely benign194917143549171435Human1name
243064223CV2411270single nucleotide variantNM_017636.4(TRPM4):c.2020-1G>Anot provided [RCV003142842]uncertain significance194919020749190207Humanname
11346947CV243373single nucleotide variantNM_017636.4(TRPM4):c.449-10G>AProgressive familial heart block type IB [RCV000230373]|not provided [RCV001812650]|not specified [RCV000253828]benign|likely benign194916825049168250Human1name
401765985CV2724556single nucleotide variantNM_017636.4(TRPM4):c.2953+1G>ACardiovascular phenotype [RCV003301658]|Progressive familial heart block type IB [RCV003502719]uncertain significance194920078649200786Human1name
401868880CV2787598single nucleotide variantNM_017636.4(TRPM4):c.3131+1G>TCardiovascular phenotype [RCV003380374]uncertain significance194920214249202142Humanname
401868888CV2787602single nucleotide variantNM_017636.4(TRPM4):c.1744-3C>TCardiovascular phenotype [RCV003380378]uncertain significance194918863849188638Humanname
402479344CV2853302single nucleotide variantNM_017636.4(TRPM4):c.2020-1G>CProgressive familial heart block type IB [RCV003494497]uncertain significance194919020749190207Human1name
402469680CV2888271single nucleotide variantNM_017636.4(TRPM4):c.1150+9T>GProgressive familial heart block type IB [RCV003504161]likely benign194917211749172117Human1name
405131394CV2902835single nucleotide variantNM_017636.4(TRPM4):c.3462-2A>CProgressive familial heart block type IB [RCV003502175]uncertain significance194921101349211013Human1name
402465749CV2914235single nucleotide variantNM_017636.4(TRPM4):c.1874-9C>AProgressive familial heart block type IB [RCV003503093]likely benign194918893749188937Human1name
402466050CV2921444single nucleotide variantNM_017636.4(TRPM4):c.2779-4A>GProgressive familial heart block type IB [RCV003503169]likely benign194920060749200607Human1name
405036484CV2947160single nucleotide variantNM_017636.4(TRPM4):c.1050+7C>AProgressive familial heart block type IB [RCV003609359]likely benign194917177649171776Human1name
405044800CV2974509single nucleotide variantNM_017636.4(TRPM4):c.1608+1G>TProgressive familial heart block type IB [RCV003610077]uncertain significance194918292349182923Human1name
405051252CV3020625single nucleotide variantNM_017636.4(TRPM4):c.1264-3C>TProgressive familial heart block type IB [RCV003610538]uncertain significance194918257549182575Human1name
405033189CV3028509single nucleotide variantNM_017636.4(TRPM4):c.448+15G>AProgressive familial heart block type IB [RCV003609043]likely benign194916811249168112Human1name
405040528CV3069869single nucleotide variantNM_017636.4(TRPM4):c.797-13C>AProgressive familial heart block type IB [RCV003609730]likely benign194917134449171344Human1name
405043405CV3074080single nucleotide variantNM_017636.4(TRPM4):c.3534+7C>GProgressive familial heart block type IB [RCV003609885]likely benign194921109449211094Human1name
405041638CV3076028single nucleotide variantNM_017636.4(TRPM4):c.2953+6G>CProgressive familial heart block type IB [RCV003609831]uncertain significance194920079149200791Human1name
405173285CV3122919single nucleotide variantNM_017636.4(TRPM4):c.1874-6C>TProgressive familial heart block type IB [RCV003819317]likely benign194918894049188940Human1name
405053058CV3138409single nucleotide variantNM_017636.4(TRPM4):c.3461+8C>GProgressive familial heart block type IB [RCV003832253]likely benign194921085049210850Human1name
405165391CV3149416single nucleotide variantNM_017636.4(TRPM4):c.2645+7G>TProgressive familial heart block type IB [RCV003841078]likely benign194919688149196881Human1name
405172396CV3150099single nucleotide variantNM_017636.4(TRPM4):c.3641-3C>TProgressive familial heart block type IB [RCV003841570]uncertain significance194921149149211491Human1name
402500925CV3170490single nucleotide variantNM_017636.4(TRPM4):c.3641-2A>GProgressive familial heart block type IB [RCV003877862]uncertain significance194921149249211492Human1name
402517565CV3178995single nucleotide variantNM_017636.4(TRPM4):c.2133-5G>TProgressive familial heart block type IB [RCV003879428]likely benign194919069149190691Human1name
405278183CV3216495single nucleotide variantNM_017636.4(TRPM4):c.2953+7G>ATRPM4-related disorder [RCV004544139]likely benign194920079249200792Human1name , trait , alternate_id
405655051CV3228447single nucleotide variantNM_017636.4(TRPM4):c.2020-9C>TProgressive familial heart block type IB [RCV005103190]|not specified [RCV003995182]likely benign194919019949190199Human1name
11613586CV334051single nucleotide variantNM_017636.4(TRPM4):c.267+14C>GProgressive familial heart block type IB [RCV000269548]|not provided [RCV001812865]|not specified [RCV000432567]benign|likely benign194916622949166229Human1name
11615987CV334074single nucleotide variantNM_017636.4(TRPM4):c.2779-5C>TCardiovascular phenotype [RCV000618564]|Progressive familial heart block type IB [RCV000290649]|not specified [RCV000606695]likely benign|conflicting interpretations of pathogenicity|uncertain significance194920060649200606Human1name
405709034CV3381430single nucleotide variantNM_017636.4(TRPM4):c.1151-5T>CCardiovascular phenotype [RCV004522164]uncertain significance194918134449181344Humanname
405709162CV3381456single nucleotide variantNM_017636.4(TRPM4):c.3461+1G>ACardiovascular phenotype [RCV004522190]uncertain significance194921084349210843Humanname
11626522CV350216single nucleotide variantNM_017636.4(TRPM4):c.2133-9C>GProgressive familial heart block type IB [RCV000265621]|not specified [RCV000616586]likely benign|conflicting interpretations of pathogenicity|uncertain significance194919068749190687Human1name
597713578CV3622036single nucleotide variantNM_017636.4(TRPM4):c.2646-2A>TCardiovascular phenotype [RCV004991053]|Progressive familial heart block type IB [RCV005109952]uncertain significance194920029849200298Human1name
597910313CV3749609single nucleotide variantNM_017636.4(TRPM4):c.1608+1G>AProgressive familial heart block type IB [RCV005073457]uncertain significance194918292349182923Human1name
597879926CV3763338single nucleotide variantNM_017636.4(TRPM4):c.2211-8C>TProgressive familial heart block type IB [RCV005108933]likely benign194919643249196432Human1name
597950862CV3769363single nucleotide variantNM_017636.4(TRPM4):c.2133-8C>AProgressive familial heart block type IB [RCV005120922]likely benign194919068849190688Human1name
597949160CV3772287single nucleotide variantNM_017636.4(TRPM4):c.2132+9C>AProgressive familial heart block type IB [RCV005120606]likely benign194919032949190329Human1name
12844051CV377833single nucleotide variantNM_017636.4(TRPM4):c.2020-8C>TProgressive familial heart block type IB [RCV002064973]|not specified [RCV000437308]likely benign194919020049190200Human1name
597962226CV3795408single nucleotide variantNM_017636.4(TRPM4):c.796+13A>GProgressive familial heart block type IB [RCV005139100]likely benign194916874949168749Human1name
597970176CV3801882single nucleotide variantNM_017636.4(TRPM4):c.3641-4C>TProgressive familial heart block type IB [RCV005141674]likely benign194921149049211490Human1name
597919720CV3811692single nucleotide variantNM_017636.4(TRPM4):c.2210+1G>AProgressive familial heart block type IB [RCV005155523]uncertain significance194919077449190774Human1name
597969064CV3821366single nucleotide variantNM_017636.4(TRPM4):c.268-11T>CProgressive familial heart block type IB [RCV005166008]likely benign194916790649167906Human1name
597847080CV3823941single nucleotide variantNM_017636.4(TRPM4):c.3329-8C>TProgressive familial heart block type IB [RCV005173180]likely benign194921070249210702Human1name
597898845CV3826686single nucleotide variantNM_017636.4(TRPM4):c.3329-1G>AProgressive familial heart block type IB [RCV005180819]uncertain significance194921070949210709Human1name
597847396CV3827996single nucleotide variantNM_017636.4(TRPM4):c.267+10G>TProgressive familial heart block type IB [RCV005173071]likely benign194916622549166225Human1name
597957296CV3838374single nucleotide variantNM_017636.4(TRPM4):c.1150+7G>CProgressive familial heart block type IB [RCV005191749]likely benign194917211549172115Human1name
597861773CV3850832single nucleotide variantNM_017636.4(TRPM4):c.2645+3G>TProgressive familial heart block type IB [RCV005195965]uncertain significance194919687749196877Human1name
597914304CV3851088single nucleotide variantNM_017636.4(TRPM4):c.2133-8C>TProgressive familial heart block type IB [RCV005204056]likely benign194919068849190688Human1name
597896039CV3853997single nucleotide variantNM_017636.4(TRPM4):c.1609-5G>AProgressive familial heart block type IB [RCV005201280]uncertain significance194918307349183073Human1name
597870354CV3855181single nucleotide variantNM_017636.4(TRPM4):c.2132+1G>TProgressive familial heart block type IB [RCV005197346]uncertain significance194919032149190321Human1name
597866215CV3857769single nucleotide variantNM_017636.4(TRPM4):c.612+19G>CProgressive familial heart block type IB [RCV005196716]likely benign194916844249168442Human1name
597867789CV3857883single nucleotide variantNM_017636.4(TRPM4):c.2132+1G>CProgressive familial heart block type IB [RCV005196831]uncertain significance194919032149190321Human1name
598236831CV3932175single nucleotide variantNM_017636.4(TRPM4):c.3328+5G>CCardiovascular phenotype [RCV005296114]uncertain significance194921041049210410Humanname
13466529CV468952single nucleotide variantNM_017636.4(TRPM4):c.1744-1G>AProgressive familial heart block type IB [RCV000551480]uncertain significance194918864049188640Human1name
13499146CV470372single nucleotide variantNM_017636.4(TRPM4):c.267+10G>AProgressive familial heart block type IB [RCV000531651]likely benign194916622549166225Human1name
13539505CV506925single nucleotide variantNM_017636.4(TRPM4):c.796+16C>GProgressive familial heart block type IB [RCV002062912]|not specified [RCV000613374]likely benign194916875249168752Human1name
13531741CV506937single nucleotide variantNM_017636.4(TRPM4):c.3329-4G>Anot specified [RCV000601146]likely benign194921070649210706Humanname
13525894CV507485single nucleotide variantNM_017636.4(TRPM4):c.449-14C>TProgressive familial heart block type IB [RCV001128796]|not provided [RCV003736840]|not specified [RCV000603527]benign|likely benign194916824649168246Human1name
13534981CV507503single nucleotide variantNM_017636.4(TRPM4):c.2020-4A>CCardiovascular phenotype [RCV002420643]|Progressive familial heart block type IB [RCV001131572]|not provided [RCV001698476]|not specified [RCV000607497]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance194919020449190204Human1name
13528486CV507905single nucleotide variantNM_017636.4(TRPM4):c.268-19C>TProgressive familial heart block type IB [RCV002066588]|not specified [RCV000600058]likely benign194916789849167898Human1name
13531842CV507915single nucleotide variantNM_017636.4(TRPM4):c.1873+4C>TCardiovascular phenotype [RCV002413715]|Progressive familial heart block type IB [RCV001128900]|not specified [RCV000606608]likely benign|conflicting interpretations of pathogenicity|uncertain significance194918877449188774Human1name
13528299CV513378single nucleotide variantNM_017636.4(TRPM4):c.1150+1G>ACardiovascular phenotype [RCV003302965]|Progressive familial heart block type IB [RCV000625948]|Progressive familial heart block type IB [RCV002499017]|not provided [RCV000728368]likely pathogenic|uncertain significance194917210949172109Human2name
13820985CV575005single nucleotide variantNM_017636.4(TRPM4):c.3462-9C>AProgressive familial heart block type IB [RCV000695261]likely benign|uncertain significance194921100649211006Human1name
14693623CV620908single nucleotide variantNM_017636.4(TRPM4):c.1050+1G>ACardiovascular phenotype [RCV002397556]|Progressive familial heart block type IB [RCV000779264]|Progressive familial heart block type IB [RCV002487601]|not provided [RCV001766616]uncertain significance194917177049171770Human2name
14693624CV620909single nucleotide variantNM_017636.4(TRPM4):c.2645+1G>ACardiovascular phenotype [RCV002458392]|Progressive familial heart block type IB [RCV000779265]|Progressive familial heart block type IB [RCV002501013]uncertain significance194919687549196875Human2name
14693625CV620910single nucleotide variantNM_017636.4(TRPM4):c.3328+1G>AProgressive familial heart block type IB [RCV000779266]uncertain significance194921040649210406Humanname
14710711CV653509single nucleotide variantNM_017636.4(TRPM4):c.2953+5G>CCardiovascular phenotype [RCV002433984]|Progressive familial heart block type IB [RCV000815487]|Progressive familial heart block type IB [RCV002495151]|not provided [RCV001766714]uncertain significance194920079049200790Human2name
14728447CV668912single nucleotide variantNM_017636.4(TRPM4):c.93-110T>Cnot provided [RCV000834779]benign194916593149165931Humanname
14730723CV669953single nucleotide variantNM_017636.4(TRPM4):c.613-39C>Tnot provided [RCV000835808]likely benign194916851449168514Humanname
14728441CV670331single nucleotide variantNM_017636.4(TRPM4):c.267+89C>Gnot provided [RCV000834776]benign194916630449166304Humanname
15015372CV680064single nucleotide variantNM_017636.4(TRPM4):c.1873+3G>TBrugada syndrome [RCV000853593]|Cardiovascular phenotype [RCV002409009]|Progressive familial heart block type IB [RCV002536199]uncertain significance194918877349188773Human3name
15136133CV690221single nucleotide variantNM_017636.4(TRPM4):c.1051-9A>GProgressive familial heart block type IB [RCV001513937]benign194917200049172000Human1name
15144169CV690222single nucleotide variantNM_017636.4(TRPM4):c.1874-9C>TProgressive familial heart block type IB [RCV001128902]|not provided [RCV001576859]likely benign|conflicting interpretations of pathogenicity|uncertain significance194918893749188937Human1name
15145379CV690223single nucleotide variantNM_017636.4(TRPM4):c.2645+9C>AProgressive familial heart block type IB [RCV001413429]likely benign194919688349196883Human1name
15137434CV695832single nucleotide variantNM_017636.4(TRPM4):c.2779-8C>Tnot provided [RCV000876996]likely benign194920060349200603Humanname
15169408CV731297single nucleotide variantNM_017636.4(TRPM4):c.2210+9A>Cnot provided [RCV000883260]likely benign194919078249190782Humanname
15148729CV745239single nucleotide variantNM_017636.4(TRPM4):c.3329-8C>GProgressive familial heart block type IB [RCV001487095]|Progressive familial heart block type IB [RCV002505303]|not provided [RCV004726728]likely benign|conflicting interpretations of pathogenicity|uncertain significance194921070249210702Human1name
15100659CV776624single nucleotide variantNM_017636.4(TRPM4):c.2211-5C>ACardiovascular phenotype [RCV003380784]|Progressive familial heart block type IB [RCV001464480]likely benign|uncertain significance194919643549196435Human1name
15115384CV776750single nucleotide variantNM_017636.4(TRPM4):c.3462-8C>TProgressive familial heart block type IB [RCV001429663]likely benign194921100749211007Human1name
21066754CV797891single nucleotide variantNM_017636.4(TRPM4):c.3328+2T>Cnot provided [RCV000996963]uncertain significance194921040749210407Humanname
21405732CV800145deletionNM_017636.4(TRPM4):c.2778+8delProgressive familial heart block type IB [RCV001001075]likely benign194920044049200440Human1name
26901410CV852983single nucleotide variantNM_017636.4(TRPM4):c.1150+6A>GProgressive familial heart block type IB [RCV001057701]uncertain significance194917211449172114Human1name
38469174CV940488single nucleotide variantNM_017636.4(TRPM4):c.3329-2A>GProgressive familial heart block type IB [RCV001205208]|not provided [RCV001815997]uncertain significance194921070849210708Human1name
38456063CV941237single nucleotide variantNM_017636.4(TRPM4):c.1150+5A>TCardiovascular phenotype [RCV002451478]|Progressive familial heart block type IB [RCV001216292]uncertain significance194917211349172113Human1name
38465208CV960297single nucleotide variantNM_017636.4(TRPM4):c.2020-3C>GProgressive familial heart block type IB [RCV001237797]uncertain significance194919020549190205Human1name
38598437CV964694single nucleotide variantNM_017636.4(TRPM4):c.1608+1G>CProgressive familial heart block type IB [RCV001253598]uncertain significance194918292349182923Human1name
127336854CV1148993single nucleotide variantNM_017636.4(TRPM4):c.1050+10T>AProgressive familial heart block type IB [RCV001492454]likely benign194917177949171779Human1name
150330543CV1173281single nucleotide variantNM_017636.4(TRPM4):c.2954-83G>Anot provided [RCV001538141]benign194920188149201881Humanname
150406952CV1178412single nucleotide variantNM_017636.4(TRPM4):c.3131+55T>Gnot provided [RCV001545429]likely benign194920219649202196Humanname
150410831CV1178413single nucleotide variantNM_017636.4(TRPM4):c.3131+72C>Tnot provided [RCV001546848]likely benign194920221349202213Humanname
150423462CV1185510single nucleotide variantNM_017636.4(TRPM4):c.1609-38G>Anot provided [RCV001555355]likely benign194918304049183040Humanname
150405809CV1195441duplicationNM_017636.4(TRPM4):c.1263+90dupnot provided [RCV001571795]likely benign194918153049181531Humanname
150418483CV1199160single nucleotide variantNM_017636.4(TRPM4):c.797-161A>Gnot provided [RCV001576758]likely benign194917119649171196Humanname
150418809CV1199163single nucleotide variantNM_017636.4(TRPM4):c.2953+46C>Gnot provided [RCV001576903]likely benign194920083149200831Humanname
150487795CV1208159single nucleotide variantNM_017636.4(TRPM4):c.3132-63C>Anot provided [RCV001592019]likely benign194921014649210146Humanname
150510773CV1210569single nucleotide variantNM_017636.4(TRPM4):c.1744-76T>Cnot provided [RCV001597748]benign194918856549188565Humanname
150444387CV1233009single nucleotide variantNM_017636.4(TRPM4):c.797-119C>Anot provided [RCV001645682]benign194917123849171238Humanname
150441833CV1233605single nucleotide variantNM_017636.4(TRPM4):c.2645+74A>Gnot provided [RCV001645293]benign194919694849196948Humanname
150491102CV1239225single nucleotide variantNM_017636.4(TRPM4):c.2778+75A>Gnot provided [RCV001654793]benign194920050749200507Humanname
150506376CV1242200single nucleotide variantNM_017636.4(TRPM4):c.1264-82C>Anot provided [RCV001658553]benign194918249649182496Humanname
150458482CV1248942single nucleotide variantNM_017636.4(TRPM4):c.267+105A>Gnot provided [RCV001669118]benign194916632049166320Humanname
150489256CV1250520single nucleotide variantNM_017636.4(TRPM4):c.2019+25C>GErythrokeratodermia variabilis et progressiva 6 [RCV001838751]|Progressive familial heart block type IB [RCV001838750]|not provided [RCV001674483]benign194918911649189116Human2name
150455827CV1259922single nucleotide variantNM_017636.4(TRPM4):c.1263+94G>Anot provided [RCV001681401]benign194918155549181555Humanname
150495688CV1283029single nucleotide variantNM_017636.4(TRPM4):c.2778+58G>Cnot provided [RCV001717439]benign194920049049200490Humanname
150440215CV1287151single nucleotide variantNM_017636.4(TRPM4):c.3534+27A>Gnot provided [RCV001725066]benign194921111449211114Humanname
150440222CV1287152single nucleotide variantNM_017636.4(TRPM4):c.2646-85C>Tnot provided [RCV001725067]benign194920021549200215Humanname
150444663CV1288055single nucleotide variantNM_017636.4(TRPM4):c.1051-89G>Anot provided [RCV001725777]benign194917192049171920Humanname
151858649CV1503519single nucleotide variantNM_017636.4(TRPM4):c.1609-12T>GProgressive familial heart block type IB [RCV001979839]likely benign194918306649183066Human1name
151742842CV1507476single nucleotide variantNM_017636.4(TRPM4):c.1874-19A>GProgressive familial heart block type IB [RCV001968316]uncertain significance194918892749188927Human1name
152047825CV1519818single nucleotide variantNM_017636.4(TRPM4):c.3329-10G>AProgressive familial heart block type IB [RCV002145287]likely benign194921070049210700Human1name
152074191CV1520878single nucleotide variantNM_017636.4(TRPM4):c.2211-14C>GProgressive familial heart block type IB [RCV002075505]likely benign194919642649196426Human1name
152122309CV1541483single nucleotide variantNM_017636.4(TRPM4):c.3534+19G>TProgressive familial heart block type IB [RCV002175742]likely benign194921110649211106Human1name
152043985CV1552178single nucleotide variantNM_017636.4(TRPM4):c.1050+11G>CProgressive familial heart block type IB [RCV002166055]likely benign194917178049171780Human1name
152085509CV1555081single nucleotide variantNM_017636.4(TRPM4):c.3461+13C>TProgressive familial heart block type IB [RCV002211989]likely benign194921085549210855Human1name
152139073CV1572379single nucleotide variantNM_017636.4(TRPM4):c.2778+18C>GProgressive familial heart block type IB [RCV002219131]likely benign194920045049200450Human1name
152121336CV1574451single nucleotide variantNM_017636.4(TRPM4):c.1743+17C>TProgressive familial heart block type IB [RCV002175620]likely benign194918322949183229Human1name
152132471CV1585084single nucleotide variantNM_017636.4(TRPM4):c.2779-13C>TProgressive familial heart block type IB [RCV002083052]likely benign194920059849200598Human1name
152054194CV1596092single nucleotide variantNM_017636.4(TRPM4):c.2132+19G>TProgressive familial heart block type IB [RCV002072732]likely benign194919033949190339Human1name
152126426CV1596242single nucleotide variantNM_017636.4(TRPM4):c.1743+19C>GProgressive familial heart block type IB [RCV002118516]likely benign194918323149183231Human1name
152171655CV1597698single nucleotide variantNM_017636.4(TRPM4):c.1609-18C>TProgressive familial heart block type IB [RCV002162190]likely benign194918306049183060Human1name
152114631CV1600182single nucleotide variantNM_017636.4(TRPM4):c.2019+12C>TProgressive familial heart block type IB [RCV002097305]likely benign194918910349189103Human1name
152120089CV1612233single nucleotide variantNM_017636.4(TRPM4):c.2953+16G>AProgressive familial heart block type IB [RCV002135600]likely benign194920080149200801Human1name
152094950CV1617627single nucleotide variantNM_017636.4(TRPM4):c.2778+17G>AProgressive familial heart block type IB [RCV002114580]likely benign194920044949200449Human1name
152166552CV1621115single nucleotide variantNM_017636.4(TRPM4):c.2020-13C>TProgressive familial heart block type IB [RCV002181958]likely benign194919019549190195Human1name
152049441CV1627735single nucleotide variantNM_017636.4(TRPM4):c.2779-15C>GProgressive familial heart block type IB [RCV002108760]benign194920059649200596Human1name
152034533CV1634943single nucleotide variantNM_017636.4(TRPM4):c.3328+12G>TProgressive familial heart block type IB [RCV002086987]likely benign194921041749210417Human1name
152134515CV1638406single nucleotide variantNM_017636.4(TRPM4):c.1873+17G>TProgressive familial heart block type IB [RCV002083322]likely benign194918878749188787Human1name
152071180CV1638721single nucleotide variantNM_017636.4(TRPM4):c.3641-16T>CProgressive familial heart block type IB [RCV002075123]likely benign194921147849211478Human1name
152026062CV1639236single nucleotide variantNM_017636.4(TRPM4):c.3535-19C>TProgressive familial heart block type IB [RCV002185026]likely benign194921114549211145Human1name
152138448CV1645197single nucleotide variantNM_017636.4(TRPM4):c.1608+10G>AProgressive familial heart block type IB [RCV002137865]likely benign194918293249182932Human1name
152170478CV1651112single nucleotide variantNM_017636.4(TRPM4):c.2645+16C>AProgressive familial heart block type IB [RCV002143128]benign194919689049196890Human1name
152172989CV1652833single nucleotide variantNM_017636.4(TRPM4):c.3641-12C>GProgressive familial heart block type IB [RCV002143962]likely benign194921148249211482Human1name
152028869CV1655437single nucleotide variantNM_017636.4(TRPM4):c.1608+10G>TProgressive familial heart block type IB [RCV002105387]likely benign194918293249182932Human1name
152067647CV1660136single nucleotide variantNM_017636.4(TRPM4):c.3461+19C>AProgressive familial heart block type IB [RCV002147649]likely benign194921086149210861Human1name
152115710CV1662332single nucleotide variantNM_017636.4(TRPM4):c.2645+17C>TProgressive familial heart block type IB [RCV002097452]likely benign194919689149196891Human1name
152137528CV1665036single nucleotide variantNM_017636.4(TRPM4):c.2779-16C>TProgressive familial heart block type IB [RCV002119907]likely benign194920059549200595Human1name
156407723CV1868886single nucleotide variantNM_017636.4(TRPM4):c.1608+11G>AProgressive familial heart block type IB [RCV003070987]likely benign194918293349182933Human1name
156022079CV1882418single nucleotide variantNM_017636.4(TRPM4):c.1609-16C>TProgressive familial heart block type IB [RCV003077671]likely benign194918306249183062Human1name
156183349CV1884786single nucleotide variantNM_017636.4(TRPM4):c.3640+16C>TProgressive familial heart block type IB [RCV003083633]likely benign194921128549211285Human1name
156410284CV1888440single nucleotide variantNM_017636.4(TRPM4):c.2778+13C>AProgressive familial heart block type IB [RCV003072007]likely benign194920044549200445Human1name
156349510CV1889797single nucleotide variantNM_017636.4(TRPM4):c.1874-20A>GProgressive familial heart block type IB [RCV003090857]likely benign194918892649188926Human1name
155952942CV1896406single nucleotide variantNM_017636.4(TRPM4):c.1609-20A>TProgressive familial heart block type IB [RCV003095431]likely benign194918305849183058Human1name
156034816CV1932631single nucleotide variantNM_017636.4(TRPM4):c.3329-14G>TProgressive familial heart block type IB [RCV002637323]likely benign194921069649210696Human1name
156299493CV1933390single nucleotide variantNM_017636.4(TRPM4):c.2953+14C>AProgressive familial heart block type IB [RCV002629175]likely benign194920079949200799Human1name
156446632CV1947977single nucleotide variantNM_017636.4(TRPM4):c.1874-11C>AProgressive familial heart block type IB [RCV003118143]likely benign194918893549188935Human1name
156385821CV1990194single nucleotide variantNM_017636.4(TRPM4):c.1051-18G>CProgressive familial heart block type IB [RCV002634606]likely benign194917199149171991Human1name
156362604CV2003310single nucleotide variantNM_017636.4(TRPM4):c.2020-18C>TProgressive familial heart block type IB [RCV002676345]likely benign194919019049190190Human1name
156355569CV2005214single nucleotide variantNM_017636.4(TRPM4):c.3329-15C>TProgressive familial heart block type IB [RCV002675899]likely benign194921069549210695Human1name
156014869CV2009082single nucleotide variantNM_017636.4(TRPM4):c.2954-20C>TProgressive familial heart block type IB [RCV002690711]likely benign194920194449201944Human1name
156234720CV2036346single nucleotide variantNM_017636.4(TRPM4):c.2645+11C>TProgressive familial heart block type IB [RCV002805452]likely benign194919688549196885Human1name
156231484CV2048722single nucleotide variantNM_017636.4(TRPM4):c.1873+17G>AProgressive familial heart block type IB [RCV002791013]likely benign194918878749188787Human1name
156173317CV2053463single nucleotide variantNM_017636.4(TRPM4):c.2645+12G>CProgressive familial heart block type IB [RCV002802016]likely benign194919688649196886Human1name
156313352CV2063576single nucleotide variantNM_017636.4(TRPM4):c.2211-11T>CProgressive familial heart block type IB [RCV002834252]likely benign194919642949196429Human1name
156313394CV2063579single nucleotide variantNM_017636.4(TRPM4):c.1744-14C>TProgressive familial heart block type IB [RCV002834254]likely benign194918862749188627Human1name
155933244CV2064170single nucleotide variantNM_017636.4(TRPM4):c.3328+10G>AProgressive familial heart block type IB [RCV002861261]likely benign194921041549210415Human1name
155962787CV2080555single nucleotide variantNM_017636.4(TRPM4):c.1050+15G>CProgressive familial heart block type IB [RCV002862938]likely benign194917178449171784Human1name
156146830CV2090924single nucleotide variantNM_017636.4(TRPM4):c.2646-17A>GProgressive familial heart block type IB [RCV002890515]likely benign194920028349200283Human1name
156114015CV2104534single nucleotide variantNM_017636.4(TRPM4):c.1051-15C>AProgressive familial heart block type IB [RCV002927550]likely benign194917199449171994Human1name
156110610CV2108235single nucleotide variantNM_017636.4(TRPM4):c.1050+15G>TProgressive familial heart block type IB [RCV002927412]likely benign194917178449171784Human1name
156102857CV2117304single nucleotide variantNM_017636.4(TRPM4):c.2133-19G>AProgressive familial heart block type IB [RCV002952803]likely benign194919067749190677Human1name
156026247CV2128982single nucleotide variantNM_017636.4(TRPM4):c.3328+16G>AProgressive familial heart block type IB [RCV002949018]likely benign194921042149210421Human1name
155971322CV2139752single nucleotide variantNM_017636.4(TRPM4):c.2645+10C>TProgressive familial heart block type IB [RCV002995640]likely benign194919688449196884Human1name
156304384CV2166814single nucleotide variantNM_017636.4(TRPM4):c.2133-11C>GProgressive familial heart block type IB [RCV003045707]likely benign194919068549190685Human1name
156135203CV2169435deletionNM_017636.4(TRPM4):c.1609-16delProgressive familial heart block type IB [RCV003022325]benign194918305949183059Human1name
156192316CV2175289deletionNM_017636.4(TRPM4):c.1051-14delProgressive familial heart block type IB [RCV003057875]likely benign194917199549171995Human1name
156343823CV2176153duplicationNM_017636.4(TRPM4):c.1609-15dupProgressive familial heart block type IB [RCV003030442]likely benign194918306249183063Human1name
156257728CV2185381single nucleotide variantNM_017636.4(TRPM4):c.3462-15G>TProgressive familial heart block type IB [RCV003044011]likely benign194921100049211000Human1name
156265226CV2189153single nucleotide variantNM_017636.4(TRPM4):c.1609-13C>GProgressive familial heart block type IB [RCV003044260]likely benign194918306549183065Human1name
402469443CV2880898single nucleotide variantNM_017636.4(TRPM4):c.2020-18C>AProgressive familial heart block type IB [RCV003504097]likely benign194919019049190190Human1name
402469467CV2880972single nucleotide variantNM_017636.4(TRPM4):c.3461+12G>AProgressive familial heart block type IB [RCV003504103]likely benign194921085449210854Human1name
402470617CV2886676single nucleotide variantNM_017636.4(TRPM4):c.1743+13T>GProgressive familial heart block type IB [RCV003504377]likely benign194918322549183225Human1name
402469684CV2888306single nucleotide variantNM_017636.4(TRPM4):c.3535-15C>GProgressive familial heart block type IB [RCV003504162]likely benign194921114949211149Human1name
402470383CV2892046single nucleotide variantNM_017636.4(TRPM4):c.1743+19C>TProgressive familial heart block type IB [RCV003504192]likely benign194918323149183231Human1name
405130439CV2895260single nucleotide variantNM_017636.4(TRPM4):c.2132+17G>AProgressive familial heart block type IB [RCV003502077]likely benign194919033749190337Human1name
405131478CV2900100single nucleotide variantNM_017636.4(TRPM4):c.3329-10G>TProgressive familial heart block type IB [RCV003502184]likely benign194921070049210700Human1name
405036150CV2936607single nucleotide variantNM_017636.4(TRPM4):c.2211-19C>GProgressive familial heart block type IB [RCV003609330]likely benign194919642149196421Human1name
405036496CV2947172single nucleotide variantNM_017636.4(TRPM4):c.1150+15C>TProgressive familial heart block type IB [RCV003609360]likely benign194917212349172123Human1name
405044058CV2970486single nucleotide variantNM_017636.4(TRPM4):c.3328+17G>TProgressive familial heart block type IB [RCV003610024]likely benign194921042249210422Human1name
405046895CV2971234single nucleotide variantNM_017636.4(TRPM4):c.3132-15C>TProgressive familial heart block type IB [RCV003610066]likely benign194921019449210194Human1name
405048365CV2977699single nucleotide variantNM_017636.4(TRPM4):c.2210+13T>CProgressive familial heart block type IB [RCV003610264]likely benign194919078649190786Human1name
405049189CV2979475single nucleotide variantNM_017636.4(TRPM4):c.3329-16C>TProgressive familial heart block type IB [RCV003610383]likely benign194921069449210694Human1name
405049425CV2983322single nucleotide variantNM_017636.4(TRPM4):c.3329-18C>GProgressive familial heart block type IB [RCV003610401]uncertain significance194921069249210692Human1name
405050196CV2994354single nucleotide variantNM_017636.4(TRPM4):c.2020-10C>TProgressive familial heart block type IB [RCV003610457]likely benign194919019849190198Human1name
405051387CV3024485single nucleotide variantNM_017636.4(TRPM4):c.1150+13C>AProgressive familial heart block type IB [RCV003610549]likely benign194917212149172121Human1name
405051286CV3030895single nucleotide variantNM_017636.4(TRPM4):c.3534+16C>TProgressive familial heart block type IB [RCV003610541]likely benign194921110349211103Human1name
405051296CV3030969single nucleotide variantNM_017636.4(TRPM4):c.1051-18G>AProgressive familial heart block type IB [RCV003610542]likely benign194917199149171991Human1name
405041413CV3066659single nucleotide variantNM_017636.4(TRPM4):c.1609-10T>CProgressive familial heart block type IB [RCV003609754]likely benign194918306849183068Human1name
405043622CV3073371single nucleotide variantNM_017636.4(TRPM4):c.2646-11C>AProgressive familial heart block type IB [RCV003609806]likely benign194920028949200289Human1name
405042233CV3074046duplicationNM_017636.4(TRPM4):c.1608+25dupProgressive familial heart block type IB [RCV003609884]benign194918294149182942Human1name
405042529CV3079846single nucleotide variantNM_017636.4(TRPM4):c.2210+16A>TProgressive familial heart block type IB [RCV003609908]likely benign194919078949190789Human1name
405161364CV3153053single nucleotide variantNM_017636.4(TRPM4):c.1151-10A>GProgressive familial heart block type IB [RCV003840788]uncertain significance194918133949181339Human1name
405227440CV3180202single nucleotide variantNM_017636.4(TRPM4):c.2954-15T>AProgressive familial heart block type IB [RCV003864622]likely benign|uncertain significance194920194949201949Human1name
405288763CV3209924single nucleotide variantNM_017636.4(TRPM4):c.2779-10C>ATRPM4-related disorder [RCV004544100]likely benign194920060149200601Human1name , trait , alternate_id
405281486CV3224157single nucleotide variantNM_017636.4(TRPM4):c.3132-20T>Cnot specified [RCV003988539]likely benign194921018949210189Humanname
11615841CV343993single nucleotide variantNM_017636.4(TRPM4):c.2954-11T>CProgressive familial heart block type IB [RCV000289362]|not provided [RCV001547231]likely benign|conflicting interpretations of pathogenicity|uncertain significance194920195349201953Human1name
11629243CV349253single nucleotide variantNM_017636.4(TRPM4):c.2210+11C>GProgressive familial heart block type IB [RCV000318350]|not provided [RCV004717302]|not specified [RCV000417860]benign|likely benign194919078449190784Human1name
12740993CV360434single nucleotide variantNM_017636.4(TRPM4):c.2778+11G>Tnot specified [RCV000413748]uncertain significance194920044349200443Humanname
597845441CV3736287single nucleotide variantNM_017636.4(TRPM4):c.3131+17C>GProgressive familial heart block type IB [RCV005065635]likely benign194920215849202158Human1name
597882240CV3745031single nucleotide variantNM_017636.4(TRPM4):c.2645+11C>GProgressive familial heart block type IB [RCV005070056]likely benign194919688549196885Human1name
597831430CV3750945single nucleotide variantNM_017636.4(TRPM4):c.1873+14G>AProgressive familial heart block type IB [RCV005084689]likely benign194918878449188784Human1name
597966546CV3751605single nucleotide variantNM_017636.4(TRPM4):c.2133-10C>TProgressive familial heart block type IB [RCV005082975]likely benign194919068649190686Human1name
597841077CV3752741single nucleotide variantNM_017636.4(TRPM4):c.3534+19G>AProgressive familial heart block type IB [RCV005086470]likely benign194921110649211106Human1name
597950318CV3759673single nucleotide variantNM_017636.4(TRPM4):c.3641-11T>CProgressive familial heart block type IB [RCV005079273]likely benign194921148349211483Human1name
597834320CV3760736single nucleotide variantNM_017636.4(TRPM4):c.1873+10G>TProgressive familial heart block type IB [RCV005085287]likely benign194918878049188780Human1name
597834772CV3760806single nucleotide variantNM_017636.4(TRPM4):c.1873+18C>TProgressive familial heart block type IB [RCV005085357]likely benign194918878849188788Human1name
12847552CV376628single nucleotide variantNM_017636.4(TRPM4):c.1151-20T>AProgressive familial heart block type IB [RCV002064971]|not specified [RCV000443691]benign194918132949181329Human1name
12848264CV376641single nucleotide variantNM_017636.4(TRPM4):c.1873+13C>GProgressive familial heart block type IB [RCV001128901]|not specified [RCV000444967]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance194918878349188783Human1name
597864145CV3766999single nucleotide variantNM_017636.4(TRPM4):c.1263+17T>CProgressive familial heart block type IB [RCV005106521]likely benign194918147849181478Human1name
597916841CV3767750single nucleotide variantNM_017636.4(TRPM4):c.1743+20T>CProgressive familial heart block type IB [RCV005114551]likely benign194918323249183232Human1name
12835053CV377591single nucleotide variantNM_017636.4(TRPM4):c.3329-13C>TProgressive familial heart block type IB [RCV002060003]|not provided [RCV001721423]likely benign194921069749210697Human1name
12842402CV377592single nucleotide variantNM_017636.4(TRPM4):c.3641-19C>GProgressive familial heart block type IB [RCV002062406]|Progressive familial heart block type IB [RCV002481306]|not provided [RCV001723992]|not specified [RCV000434333]benign|likely benign194921147549211475Human1name
12843858CV377823single nucleotide variantNM_017636.4(TRPM4):c.1150+15C>GProgressive familial heart block type IB [RCV002063526]|not provided [RCV001698375]benign|likely benign194917212349172123Human1name
12839078CV377848single nucleotide variantNM_017636.4(TRPM4):c.3641-17T>GProgressive familial heart block type IB [RCV002059936]|not provided [RCV001810938]|not specified [RCV000428158]benign|likely benign194921147749211477Human1name
597899305CV3782478single nucleotide variantNM_017636.4(TRPM4):c.2954-19T>GProgressive familial heart block type IB [RCV005126703]likely benign194920194549201945Human1name
597927242CV3783402single nucleotide variantNM_017636.4(TRPM4):c.1151-13C>TProgressive familial heart block type IB [RCV005116089]likely benign194918133649181336Human1name
597902000CV3796764single nucleotide variantNM_017636.4(TRPM4):c.2778+20A>GProgressive familial heart block type IB [RCV005152847]likely benign194920045249200452Human1name
597957295CV3800430single nucleotide variantNM_017636.4(TRPM4):c.1874-18C>GProgressive familial heart block type IB [RCV005137522]uncertain significance194918892849188928Human1name
597908909CV3806405single nucleotide variantNM_017636.4(TRPM4):c.1608+12G>AProgressive familial heart block type IB [RCV005153972]likely benign194918293449182934Human1name
597875084CV3816838single nucleotide variantNM_017636.4(TRPM4):c.1744-14C>GProgressive familial heart block type IB [RCV005148891]likely benign194918862749188627Human1name
597914273CV3817506single nucleotide variantNM_017636.4(TRPM4):c.2954-20C>GProgressive familial heart block type IB [RCV005154708]likely benign194920194449201944Human1name
597957264CV3838386single nucleotide variantNM_017636.4(TRPM4):c.2778+13C>TProgressive familial heart block type IB [RCV005191761]likely benign194920044549200445Human1name
597921183CV3839410single nucleotide variantNM_017636.4(TRPM4):c.1263+19G>TProgressive familial heart block type IB [RCV005184342]likely benign194918148049181480Human1name
597918957CV3842497single nucleotide variantNM_017636.4(TRPM4):c.2953+14C>TProgressive familial heart block type IB [RCV005183982]likely benign194920079949200799Human1name
617153291CV4018606single nucleotide variantNM_017636.4(TRPM4):c.3131+12C>Tnot specified [RCV005418868]likely benign194920215349202153Humanname
13533874CV507096single nucleotide variantNM_017636.4(TRPM4):c.2646-17A>TProgressive familial heart block type IB [RCV002062176]|not provided [RCV004717683]|not specified [RCV000601784]benign194920028349200283Human1name
13539207CV507098single nucleotide variantNM_017636.4(TRPM4):c.2953+15G>AProgressive familial heart block type IB [RCV001129016]|not provided [RCV004704105]|not specified [RCV000612956]benign|likely benign194920080049200800Human1name
13536087CV507917single nucleotide variantNM_017636.4(TRPM4):c.3131+17C>TProgressive familial heart block type IB [RCV002062169]|not specified [RCV000608489]benign194920215849202158Human1name
13538598CV507919single nucleotide variantNM_017636.4(TRPM4):c.3329-14G>CProgressive familial heart block type IB [RCV002063205]|not specified [RCV000612066]likely benign194921069649210696Human1name
14738265CV668914single nucleotide variantNM_017636.4(TRPM4):c.797-125A>Gnot provided [RCV000839318]benign194917123249171232Humanname
14730726CV668922single nucleotide variantNM_017636.4(TRPM4):c.1150+91C>Tnot provided [RCV000835809]likely benign194917219949172199Humanname
14707800CV668923single nucleotide variantNM_017636.4(TRPM4):c.2779-14A>Gnot provided [RCV000826951]likely benign194920059749200597Humanname
14738296CV669958single nucleotide variantNM_017636.4(TRPM4):c.2133-87C>Tnot provided [RCV000839335]benign194919060949190609Humanname
14730782CV669965single nucleotide variantNM_017636.4(TRPM4):c.3131+98C>Tnot provided [RCV000835833]benign194920223949202239Humanname
14728443CV670070single nucleotide variantNM_017636.4(TRPM4):c.1051-33C>Tnot provided [RCV000834777]benign194917197649171976Humanname
14744137CV670072single nucleotide variantNM_017636.4(TRPM4):c.2210+10G>TProgressive familial heart block type IB [RCV003106080]|not provided [RCV000842556]likely benign194919078349190783Human1name
14738294CV670335single nucleotide variantNM_017636.4(TRPM4):c.2132+91G>Anot provided [RCV000839334]benign194919041149190411Humanname
14727122CV670336single nucleotide variantNM_017636.4(TRPM4):c.3329-99G>Anot provided [RCV000834172]likely benign194921061149210611Humanname
28909685CV882916single nucleotide variantNM_017636.4(TRPM4):c.2020-11A>TProgressive familial heart block type IB [RCV001128904]uncertain significance194919019749190197Human1name
150333889CV1173278single nucleotide variantNM_017636.4(TRPM4):c.1264-341T>Cnot provided [RCV001539683]benign194918223749182237Humanname
150335160CV1173280deletionNM_017636.4(TRPM4):c.2132+172delnot provided [RCV001540434]benign194919048649190486Humanname
150418517CV1181788single nucleotide variantNM_017636.4(TRPM4):c.2646-190A>Cnot provided [RCV001550635]likely benign194920011049200110Humanname
150424283CV1185507single nucleotide variantNM_017636.4(TRPM4):c.1263+216G>Anot provided [RCV001556458]likely benign194918167749181677Humanname
150423437CV1185511single nucleotide variantNM_017636.4(TRPM4):c.2132+174T>Cnot provided [RCV001555319]likely benign194919049449190494Humanname
150429085CV1188796single nucleotide variantNM_017636.4(TRPM4):c.1151-338A>Gnot provided [RCV001563132]likely benign194918101149181011Humanname
150426457CV1188799single nucleotide variantNM_017636.4(TRPM4):c.3131+280G>Anot provided [RCV001559603]likely benign194920242149202421Humanname
150418221CV1195444single nucleotide variantNM_017636.4(TRPM4):c.1743+246G>Tnot provided [RCV001569115]likely benign194918345849183458Humanname
150476133CV1202344single nucleotide variantNM_017636.4(TRPM4):c.1743+224G>Anot provided [RCV001589588]likely benign194918343649183436Humanname
150510447CV1211689deletionNM_017636.4(TRPM4):c.2954-101delnot provided [RCV001597583]benign194920186049201860Humanname
150495593CV1225113single nucleotide variantNM_017636.4(TRPM4):c.2953+227C>Tnot provided [RCV001619591]benign194920101249201012Humanname
150516403CV1228339single nucleotide variantNM_017636.4(TRPM4):c.2133-129A>Gnot provided [RCV001639145]benign194919056749190567Humanname
150508749CV1229723single nucleotide variantNM_017636.4(TRPM4):c.2954-136C>Gnot provided [RCV001636301]benign194920182849201828Humanname
150432993CV1231626microsatelliteNM_017636.4(TRPM4):c.449-74GT[8]not provided [RCV001643288]benign194916818549168186Humanname
150469028CV1249027single nucleotide variantNM_017636.4(TRPM4):c.3131+242G>Anot provided [RCV001670788]benign194920238349202383Humanname
150487601CV1251550single nucleotide variantNM_017636.4(TRPM4):c.1264-325T>Cnot provided [RCV001674221]benign194918225349182253Humanname
150444054CV1258463single nucleotide variantNM_017636.4(TRPM4):c.1151-247A>Gnot provided [RCV001679661]benign194918110249181102Humanname
150472237CV1259260duplicationNM_017636.4(TRPM4):c.2953+226dupnot provided [RCV001684506]benign194920100049201001Humanname
150443170CV1266354single nucleotide variantNM_017636.4(TRPM4):c.2020-287A>Gnot provided [RCV001690790]benign194918992149189921Humanname
150468680CV1267969single nucleotide variantNM_017636.4(TRPM4):c.1744-306G>Tnot provided [RCV001694832]benign194918833549188335Humanname
150505420CV1286184single nucleotide variantNM_017636.4(TRPM4):c.2646-156T>Cnot provided [RCV001719609]benign194920014449200144Humanname
150505437CV1286188single nucleotide variantNM_017636.4(TRPM4):c.1264-324G>Anot provided [RCV001719613]benign194918225449182254Humanname
150444655CV1288054single nucleotide variantNM_017636.4(TRPM4):c.2646-246C>Tnot provided [RCV001725776]benign194920005449200054Humanname
14730785CV668925single nucleotide variantNM_017636.4(TRPM4):c.3131+105C>Gnot provided [RCV000835834]benign194920224649202246Humanname
14738671CV670073single nucleotide variantNM_017636.4(TRPM4):c.3131+110C>Anot provided [RCV000839504]likely benign194920225149202251Humanname
14728449CV670076single nucleotide variantNM_017636.4(TRPM4):c.3132-213A>Gnot provided [RCV000834780]benign194920999649209996Humanname
14746237CV670333single nucleotide variantNM_017636.4(TRPM4):c.2020-347A>Gnot provided [RCV000844225]benign194918986149189861Humanname
14736145CV670334single nucleotide variantNM_017636.4(TRPM4):c.2020-117G>Tnot provided [RCV000838343]likely benign194919009149190091Humanname
150470537CV1209339microsatelliteNM_017636.4(TRPM4):c.796+274AAT[9]not provided [RCV001588450]likely benign194916900949169010Humanname
152073829CV1551949duplicationNM_017636.4(TRPM4):c.449-8_449-7dupProgressive familial heart block type IB [RCV002075459]likely benign194916825049168251Human1name
155727131CV1822438single nucleotide variantNM_017636.4(TRPM4):c.6G>T (p.Val2=)Cardiovascular phenotype [RCV002364789]likely benign194915787249157872Humanname
597830783CV3743323duplicationNM_017636.4(TRPM4):c.1606_1608+1dupProgressive familial heart block type IB [RCV005062331]uncertain significance194918291849182919Human1name
127234951CV1084893single nucleotide variantNM_017636.4(TRPM4):c.18G>A (p.Lys6=)Cardiovascular phenotype [RCV002413990]|Progressive familial heart block type IB [RCV001414303]likely benign194915788449157884Human1name
150337463CV1173279microsatelliteNM_017636.4(TRPM4):c.1264-126CCAT[8]not provided [RCV001541662]benign194918245249182467Humanname
150420861CV1181786microsatelliteNM_017636.4(TRPM4):c.1264-141CATC[4]not provided [RCV001551746]likely benign194918243649182437Humanname
150423415CV1185508microsatelliteNM_017636.4(TRPM4):c.1264-323TCCA[5]not provided [RCV001555288]likely benign194918225449182255Humanname
150404328CV1195443microsatelliteNM_017636.4(TRPM4):c.1264-126CCAT[9]not provided [RCV001571056]likely benign194918245249182463Humanname
150435429CV1206990microsatelliteNM_017636.4(TRPM4):c.1264-141CATC[2]not provided [RCV001582339]likely benign194918243749182440Humanname
151775996CV1424333single nucleotide variantNM_017636.4(TRPM4):c.24G>A (p.Gln8=)Progressive familial heart block type IB [RCV002025812]|Progressive familial heart block type IB [RCV002486649]uncertain significance194915789049157890Human1name
155720596CV1835808single nucleotide variantNM_017636.4(TRPM4):c.12G>C (p.Pro4=)Cardiovascular phenotype [RCV002380809]likely benign194915787849157878Humanname
405166148CV3149414single nucleotide variantNM_017636.4(TRPM4):c.12G>T (p.Pro4=)Progressive familial heart block type IB [RCV003841076]likely benign194915787849157878Human1name
597928350CV3837250deletionNM_017636.4(TRPM4):c.1050_1050+19delProgressive familial heart block type IB [RCV005185408]uncertain significance194917176349171782Human1name
13531361CV507086single nucleotide variantNM_017636.4(TRPM4):c.12G>A (p.Pro4=)Cardiovascular phenotype [RCV002384333]|Progressive familial heart block type IB [RCV002063320]|not specified [RCV000601024]likely benign194915787849157878Human1name
150423628CV1185509microsatelliteNM_017636.4(TRPM4):c.1264-126CCAT[14]not provided [RCV001555587]likely benign194918245149182452Humanname
150428588CV1188797microsatelliteNM_017636.4(TRPM4):c.1264-126CCAT[13]not provided [RCV001562454]likely benign194918245149182452Humanname
150410546CV1192188microsatelliteNM_017636.4(TRPM4):c.1264-126CCAT[10]not provided [RCV001566110]likely benign194918245249182459Humanname
150449790CV1202487microsatelliteNM_017636.4(TRPM4):c.1264-223TCCA[11]not provided [RCV001585084]likely benign194918235449182355Humanname
150451106CV1232756microsatelliteNM_017636.4(TRPM4):c.1264-223TCCA[10]not provided [RCV001647831]benign194918235449182355Humanname
150470128CV1259773microsatelliteNM_017636.4(TRPM4):c.1264-126CCAT[11]not provided [RCV001684075]benign194918245249182455Humanname
151769719CV1410623single nucleotide variantNM_017636.4(TRPM4):c.8T>C (p.Val3Ala)Progressive familial heart block type IB [RCV001988119]uncertain significance194915787449157874Human1name
151775575CV1424280single nucleotide variantNM_017636.4(TRPM4):c.99C>T (p.Thr33=)Cardiovascular phenotype [RCV004046096]|Progressive familial heart block type IB [RCV002025774]likely benign194916604749166047Human1name
151846607CV1431666deletionNM_017636.4(TRPM4):c.2645+4_2645+7delProgressive familial heart block type IB [RCV001957415]uncertain significance194919687549196878Human1name
152116214CV1553381single nucleotide variantNM_017636.4(TRPM4):c.81C>T (p.Ser27=)Cardiovascular phenotype [RCV002427606]|Progressive familial heart block type IB [RCV002080928]likely benign194915824849158248Human1name
156412944CV1904660single nucleotide variantNM_017636.4(TRPM4):c.2T>C (p.Met1Thr)Progressive familial heart block type IB [RCV002587998]uncertain significance194915786849157868Human1name
401868892CV2784091single nucleotide variantNM_017636.4(TRPM4):c.3G>C (p.Met1Ile)Cardiovascular phenotype [RCV003380380]uncertain significance194915786949157869Humanname
401868897CV2784094single nucleotide variantNM_017636.4(TRPM4):c.1A>C (p.Met1Leu)Cardiovascular phenotype [RCV003380383]uncertain significance194915786749157867Humanname
402469535CV2887742deletionNM_017636.4(TRPM4):c.796+26_796+32delProgressive familial heart block type IB [RCV003504122]likely benign194916875649168762Human1name
402470917CV2898445deletionNM_017636.4(TRPM4):c.796+30_796+43delProgressive familial heart block type IB [RCV003504505]uncertain significance194916875549168768Human1name
405055453CV3048981single nucleotide variantNM_017636.4(TRPM4):c.96G>A (p.Gly32=)Progressive familial heart block type IB [RCV003610877]likely benign194916604449166044Human1name
597713587CV3622038single nucleotide variantNM_017636.4(TRPM4):c.45C>T (p.Phe15=)Cardiovascular phenotype [RCV004991055]likely benign194915821249158212Humanname
597876638CV3747885duplicationNM_017636.4(TRPM4):c.796+30_796+43dupProgressive familial heart block type IB [RCV005069377]uncertain significance194916875449168755Human1name
597836152CV3828370microsatelliteNM_017636.4(TRPM4):c.858+17_858+24delProgressive familial heart block type IB [RCV005171262]likely benign194917142749171434Humanname
28876204CV882298single nucleotide variantNM_017636.4(TRPM4):c.1A>G (p.Met1Val)Progressive familial heart block type IB [RCV001134313]uncertain significance194915786749157867Human1name
127280567CV1106645single nucleotide variantNM_017636.4(TRPM4):c.159C>T (p.Phe53=)Cardiovascular phenotype [RCV002405052]|Progressive familial heart block type IB [RCV001446549]likely benign194916610749166107Human1name
127332566CV1148990single nucleotide variantNM_017636.4(TRPM4):c.165A>G (p.Ala55=)Cardiovascular phenotype [RCV002396171]|Progressive familial heart block type IB [RCV001489558]likely benign194916611349166113Human1name
151880836CV1360116single nucleotide variantNM_017636.4(TRPM4):c.10C>T (p.Pro4Ser)Progressive familial heart block type IB [RCV002036852]uncertain significance194915787649157876Human1name
152164119CV1557486single nucleotide variantNM_017636.4(TRPM4):c.249C>G (p.Ala83=)Cardiovascular phenotype [RCV003161523]|Progressive familial heart block type IB [RCV002141454]likely benign194916619749166197Human1name
155738532CV1805178single nucleotide variantNM_017636.4(TRPM4):c.117C>T (p.Arg39=)Cardiovascular phenotype [RCV002342302]likely benign194916606549166065Humanname
155695484CV1844638single nucleotide variantNM_017636.4(TRPM4):c.225C>T (p.Tyr75=)Cardiovascular phenotype [RCV002443687]likely benign194916617349166173Humanname
155726324CV1848572single nucleotide variantNM_017636.4(TRPM4):c.255C>A (p.Arg85=)Cardiovascular phenotype [RCV002433361]likely benign194916620349166203Humanname
8596220CV18809single nucleotide variantNM_017636.4(TRPM4):c.19G>A (p.Glu7Lys)Progressive familial heart block type IB [RCV000003968]|TRPM4-related disorder [RCV004532279]pathogenic|likely pathogenic194915788549157885Human1name , alternate_id
156152962CV1934528single nucleotide variantNM_017636.4(TRPM4):c.144C>T (p.Ala48=)Cardiovascular phenotype [RCV004072097]|Progressive familial heart block type IB [RCV002663957]likely benign194916609249166092Human1name
156086401CV1983766single nucleotide variantNM_017636.4(TRPM4):c.100T>C (p.Leu34=)Cardiovascular phenotype [RCV004990809]|Progressive familial heart block type IB [RCV002621712]likely benign194916604849166048Human1name
401766010CV2724568single nucleotide variantNM_017636.4(TRPM4):c.18G>C (p.Lys6Asn)Cardiovascular phenotype [RCV003301670]uncertain significance194915788449157884Humanname
405031855CV3009724single nucleotide variantNM_017636.4(TRPM4):c.14A>C (p.Glu5Ala)Progressive familial heart block type IB [RCV003608932]uncertain significance194915788049157880Human1name
405055438CV3048976single nucleotide variantNM_017636.4(TRPM4):c.198C>T (p.His66=)Progressive familial heart block type IB [RCV003610876]likely benign194916614649166146Human1name
405043000CV3072175single nucleotide variantNM_017636.4(TRPM4):c.135C>T (p.Pro45=)Progressive familial heart block type IB [RCV003609945]likely benign194916608349166083Human1name
405047111CV3080680single nucleotide variantNM_017636.4(TRPM4):c.189C>T (p.Ser63=)Progressive familial heart block type IB [RCV003609987]likely benign194916613749166137Human1name
405033528CV3130345single nucleotide variantNM_017636.4(TRPM4):c.126C>T (p.Thr42=)Progressive familial heart block type IB [RCV003830752]likely benign194916607449166074Human1name
404980689CV3183399single nucleotide variantNM_017636.4(TRPM4):c.117C>G (p.Arg39=)Progressive familial heart block type IB [RCV003880422]likely benign194916606549166065Human1name
405709129CV3381449single nucleotide variantNM_017636.4(TRPM4):c.25A>G (p.Ser9Gly)Cardiovascular phenotype [RCV004522183]uncertain significance194915819249158192Humanname
598123660CV3499329single nucleotide variantNM_017636.4(TRPM4):c.273C>T (p.Leu91=)Exertional Heat Illness [RCV005230658]likely pathogenic194916792249167922Humanname
11632025CV350205single nucleotide variantNM_017636.4(TRPM4):c.243G>A (p.Thr81=)Cardiovascular phenotype [RCV002450893]|Progressive familial heart block type IB [RCV000395249]benign|likely benign|uncertain significance194916619149166191Human1name
11655621CV350213single nucleotide variantNM_017636.4(TRPM4):c.291G>A (p.Thr97=)Progressive familial heart block type IB [RCV001036936]conflicting interpretations of pathogenicity|uncertain significance194916794049167940Human1name
408390457CV3527562deletionNM_017636.4(TRPM4):c.36del (p.Lys13fs)not provided [RCV004774829]uncertain significance194915820049158200Humanname
597858200CV3755812single nucleotide variantNM_017636.4(TRPM4):c.228A>G (p.Gly76=)Progressive familial heart block type IB [RCV005088963]likely benign194916617649166176Human1name
12845618CV377816single nucleotide variantNM_017636.4(TRPM4):c.23A>T (p.Gln8Leu)Progressive familial heart block type IB [RCV002506057]|not provided [RCV000440150]uncertain significance194915788949157889Human1name
597962636CV3791489deletionNM_017636.4(TRPM4):c.3640+1_3641-61delProgressive familial heart block type IB [RCV005139243]uncertain significance194921126849211431Human1name
597864848CV3823227single nucleotide variantNM_017636.4(TRPM4):c.246G>C (p.Gly82=)Progressive familial heart block type IB [RCV005175577]likely benign194916619449166194Human1name
597873402CV3836203single nucleotide variantNM_017636.4(TRPM4):c.13G>C (p.Glu5Gln)Progressive familial heart block type IB [RCV005177000]uncertain significance194915787949157879Human1name
12888693CV403360single nucleotide variantNM_017636.4(TRPM4):c.249C>T (p.Ala83=)Cardiovascular phenotype [RCV000618066]|Progressive familial heart block type IB [RCV001087968]|not provided [RCV000835832]|not specified [RCV004701522]benign|likely benign194916619749166197Human1name
13535904CV507088single nucleotide variantNM_017636.4(TRPM4):c.240C>T (p.Phe80=)Cardiovascular phenotype [RCV002448868]|Progressive familial heart block type IB [RCV002063248]|not specified [RCV000608222]likely benign194916618849166188Human1name
13538808CV507484single nucleotide variantNM_017636.4(TRPM4):c.168C>T (p.Ala56=)Cardiovascular phenotype [RCV004024914]|Progressive familial heart block type IB [RCV001515768]|not provided [RCV005427139]|not specified [RCV000612377]benign|likely benign194916611649166116Human1name
13528072CV510800single nucleotide variantNM_017636.4(TRPM4):c.243G>C (p.Thr81=)Cardiovascular phenotype [RCV000620495]|Progressive familial heart block type IB [RCV001408995]likely benign194916619149166191Human1name
13805849CV570904single nucleotide variantNM_017636.4(TRPM4):c.11C>G (p.Pro4Arg)Progressive familial heart block type IB [RCV000700318]|Progressive familial heart block type IB [RCV002485716]|not provided [RCV001592896]uncertain significance194915787749157877Human1name
21405854CV800141single nucleotide variantNM_017636.4(TRPM4):c.246G>T (p.Gly82=)Cardiovascular phenotype [RCV002454253]|Progressive familial heart block type IB [RCV001001283]likely benign194916619449166194Human1name
38472157CV938771single nucleotide variantNM_017636.4(TRPM4):c.255C>T (p.Arg85=)Progressive familial heart block type IB [RCV001213460]|not provided [RCV001760188]uncertain significance194916620349166203Human1name
39456180CV966490single nucleotide variantNM_017636.4(TRPM4):c.216C>T (p.Thr72=)Cardiovascular phenotype [RCV003166583]|not specified [RCV001256814]likely benign194916616449166164Humanname
126755562CV998705single nucleotide variantNM_017636.4(TRPM4):c.13G>A (p.Glu5Lys)Cardiovascular phenotype [RCV003375202]|Progressive familial heart block type IB [RCV001307890]uncertain significance194915787949157879Human1name
126751752CV1013831single nucleotide variantNM_017636.4(TRPM4):c.498T>A (p.Val166=)Cardiovascular phenotype [RCV002350609]|Progressive familial heart block type IB [RCV001326980]likely benign|uncertain significance194916830949168309Human1name
126740319CV1013832single nucleotide variantNM_017636.4(TRPM4):c.735C>T (p.Gly245=)Progressive familial heart block type IB [RCV001325182]|Progressive familial heart block type IB [RCV002499639]likely benign|uncertain significance194916867549168675Human1name
127233067CV1084895single nucleotide variantNM_017636.4(TRPM4):c.351G>C (p.Leu117=)Progressive familial heart block type IB [RCV001413733]likely benign194916800049168000Human1name
127236749CV1084896single nucleotide variantNM_017636.4(TRPM4):c.727C>T (p.Leu243=)Cardiovascular phenotype [RCV002384554]|Progressive familial heart block type IB [RCV001392139]likely benign194916866749168667Human1name
127293110CV1128035single nucleotide variantNM_017636.4(TRPM4):c.594C>T (p.Asp198=)Cardiovascular phenotype [RCV003298793]|Progressive familial heart block type IB [RCV001459137]likely benign194916840549168405Human1name
127322124CV1128036single nucleotide variantNM_017636.4(TRPM4):c.723C>T (p.Gly241=)Cardiovascular phenotype [RCV002377792]|Progressive familial heart block type IB [RCV001467460]likely benign194916866349168663Human1name
127311418CV1148991single nucleotide variantNM_017636.4(TRPM4):c.462C>T (p.Val154=)Progressive familial heart block type IB [RCV001501606]likely benign194916827349168273Human1name
127318168CV1148992single nucleotide variantNM_017636.4(TRPM4):c.786G>A (p.Thr262=)Cardiovascular phenotype [RCV002414172]|Progressive familial heart block type IB [RCV001483433]likely benign194916872649168726Human1name
150419879CV1181784single nucleotide variantNM_017636.4(TRPM4):c.345G>A (p.Pro115=)Cardiovascular phenotype [RCV002458522]|Progressive familial heart block type IB [RCV002072046]|Progressive familial heart block type IB [RCV002501890]|not provided [RCV001551271]likely benign194916799449167994Human2name
150418475CV1195442duplicationNM_017636.4(TRPM4):c.1263+86_1263+90dupnot provided [RCV001569234]likely benign194918153049181531Humanname
150421491CV1199161duplicationNM_017636.4(TRPM4):c.1263+87_1263+90dupnot provided [RCV001578058]likely benign194918153049181531Humanname
150514942CV1228680duplicationNM_017636.4(TRPM4):c.1263+89_1263+90dupnot provided [RCV001638668]benign194918153049181531Humanname
150508100CV1229552deletionNM_017636.4(TRPM4):c.1264-99_1264-86delnot provided [RCV001636130]benign194918247949182492Humanname
150463476CV1263811duplicationNM_017636.4(TRPM4):c.1263+88_1263+90dupnot provided [RCV001682512]benign194918153049181531Humanname
151778677CV1337984single nucleotide variantNM_017636.4(TRPM4):c.45C>A (p.Phe15Leu)Cardiovascular phenotype [RCV004681273]|Progressive familial heart block type IB [RCV001930222]|not provided [RCV005054378]uncertain significance194915821249158212Human1name
151827560CV1348107single nucleotide variantNM_017636.4(TRPM4):c.354G>A (p.Val118=)Progressive familial heart block type IB [RCV001870213]likely benign|uncertain significance194916800349168003Human1name
151797873CV1352665single nucleotide variantNM_017636.4(TRPM4):c.858G>A (p.Thr286=)Progressive familial heart block type IB [RCV001877108]|Progressive familial heart block type IB [RCV002482570]uncertain significance194917141849171418Human1name
151851268CV1365882single nucleotide variantNM_017636.4(TRPM4):c.38A>G (p.Lys13Arg)Cardiovascular phenotype [RCV003303336]|Progressive familial heart block type IB [RCV001922819]uncertain significance194915820549158205Human1name
151806916CV1400156single nucleotide variantNM_017636.4(TRPM4):c.69C>G (p.Phe23Leu)Progressive familial heart block type IB [RCV002012074]uncertain significance194915823649158236Human1name
151744807CV1501541single nucleotide variantNM_017636.4(TRPM4):c.987C>T (p.Gly329=)Cardiovascular phenotype [RCV002386876]|Progressive familial heart block type IB [RCV002042614]likely benign|uncertain significance194917170649171706Human1name
152160547CV1530808single nucleotide variantNM_017636.4(TRPM4):c.384C>T (p.Pro128=)Cardiovascular phenotype [RCV003161587]|Progressive familial heart block type IB [RCV002123110]likely benign194916803349168033Human1name
152117789CV1534725single nucleotide variantNM_017636.4(TRPM4):c.531C>T (p.Ser177=)Progressive familial heart block type IB [RCV002153869]likely benign194916834249168342Human1name
152115857CV1537667single nucleotide variantNM_017636.4(TRPM4):c.642C>T (p.Arg214=)Cardiovascular phenotype [RCV004046343]|Progressive familial heart block type IB [RCV002135085]likely benign194916858249168582Human1name
152063435CV1575170single nucleotide variantNM_017636.4(TRPM4):c.687C>T (p.Tyr229=)Progressive familial heart block type IB [RCV002110413]likely benign194916862749168627Human1name
152129647CV1583935single nucleotide variantNM_017636.4(TRPM4):c.321A>G (p.Thr107=)Progressive familial heart block type IB [RCV002199152]likely benign194916797049167970Human1name
152055940CV1588096single nucleotide variantNM_017636.4(TRPM4):c.327A>G (p.Thr109=)Progressive familial heart block type IB [RCV002189962]likely benign194916797649167976Human1name
152135706CV1595021single nucleotide variantNM_017636.4(TRPM4):c.375G>T (p.Ser125=)Cardiovascular phenotype [RCV002361447]|Progressive familial heart block type IB [RCV002199911]likely benign194916802449168024Human1name
152048765CV1633531single nucleotide variantNM_017636.4(TRPM4):c.357G>T (p.Val119=)Cardiovascular phenotype [RCV002460186]|Progressive familial heart block type IB [RCV002126968]likely benign194916800649168006Human1name
152038793CV1644290single nucleotide variantNM_017636.4(TRPM4):c.600C>G (p.Leu200=)Progressive familial heart block type IB [RCV002165377]likely benign194916841149168411Human1name
152104958CV1658851single nucleotide variantNM_017636.4(TRPM4):c.711C>T (p.Asp237=)Cardiovascular phenotype [RCV002363621]|Progressive familial heart block type IB [RCV002152278]likely benign194916865149168651Human1name
155704304CV1787570single nucleotide variantNM_017636.4(TRPM4):c.408C>T (p.Asp136=)Cardiovascular phenotype [RCV002323197]|Progressive familial heart block type IB [RCV003094519]likely benign194916805749168057Human1name
155702204CV1788413single nucleotide variantNM_017636.4(TRPM4):c.31A>G (p.Ile11Val)Cardiovascular phenotype [RCV002322949]uncertain significance194915819849158198Humanname
155726467CV1791074single nucleotide variantNM_017636.4(TRPM4):c.420T>A (p.Arg140=)Cardiovascular phenotype [RCV002327952]likely benign194916806949168069Humanname
155689234CV1803961single nucleotide variantNM_017636.4(TRPM4):c.597C>A (p.Thr199=)Cardiovascular phenotype [RCV002356115]likely benign194916840849168408Humanname
155698236CV1810994single nucleotide variantNM_017636.4(TRPM4):c.606C>T (p.Asn202=)Cardiovascular phenotype [RCV002358360]|Progressive familial heart block type IB [RCV003502647]likely benign194916841749168417Human1name
155715573CV1812287single nucleotide variantNM_017636.4(TRPM4):c.690G>A (p.Ser230=)Cardiovascular phenotype [RCV002362338]|Progressive familial heart block type IB [RCV003502652]likely benign194916863049168630Human1name
155716283CV1812540single nucleotide variantNM_017636.4(TRPM4):c.696C>T (p.Phe232=)Cardiovascular phenotype [RCV002362508]likely benign194916863649168636Humanname
155698949CV1813300single nucleotide variantNM_017636.4(TRPM4):c.759G>A (p.Leu253=)Cardiovascular phenotype [RCV002394199]likely benign194916869949168699Humanname
155671063CV1815573single nucleotide variantNM_017636.4(TRPM4):c.714C>A (p.Gly238=)Cardiovascular phenotype [RCV002367520]likely benign194916865449168654Humanname
155680258CV1815907single nucleotide variantNM_017636.4(TRPM4):c.720C>T (p.His240=)Cardiovascular phenotype [RCV002370903]|Progressive familial heart block type IB [RCV003098506]likely benign194916866049168660Human1name
155747159CV1816695single nucleotide variantNM_017636.4(TRPM4):c.789C>T (p.Gly263=)Cardiovascular phenotype [RCV002416612]likely benign194916872949168729Humanname
155670005CV1819084single nucleotide variantNM_017636.4(TRPM4):c.708C>T (p.Asp236=)Cardiovascular phenotype [RCV002367264]|Progressive familial heart block type IB [RCV003502653]|TRPM4-related disorder [RCV004534070]likely benign194916864849168648Human1name , alternate_id
155700554CV1821097single nucleotide variantNM_017636.4(TRPM4):c.900C>T (p.Leu300=)Cardiovascular phenotype [RCV002376379]|Progressive familial heart block type IB [RCV003100078]likely benign|uncertain significance194917161949171619Human1name
155692006CV1821515single nucleotide variantNM_017636.4(TRPM4):c.94G>A (p.Gly32Arg)Cardiovascular phenotype [RCV002374134]uncertain significance194916604249166042Humanname
155728699CV1823378single nucleotide variantNM_017636.4(TRPM4):c.768C>T (p.Tyr256=)Cardiovascular phenotype [RCV002400518]likely benign194916870849168708Humanname
155712020CV1824217single nucleotide variantNM_017636.4(TRPM4):c.846G>A (p.Glu282=)Cardiovascular phenotype [RCV002447588]|Progressive familial heart block type IB [RCV003103508]|TRPM4-related disorder [RCV004534074]likely benign194917140649171406Human1name , alternate_id
155678275CV1845325deletionNM_017636.4(TRPM4):c.247del (p.Ala83fs)Cardiovascular phenotype [RCV002455596]|Progressive familial heart block type IB [RCV003101866]uncertain significance194916619149166191Human1name
156233082CV1885268single nucleotide variantNM_017636.4(TRPM4):c.486C>T (p.Ile162=)Cardiovascular phenotype [RCV004992483]|Progressive familial heart block type IB [RCV003085446]likely benign194916829749168297Human1name
156178418CV1888115single nucleotide variantNM_017636.4(TRPM4):c.48G>C (p.Lys16Asn)Progressive familial heart block type IB [RCV003083475]uncertain significance194915821549158215Human1name
156025193CV1896134single nucleotide variantNM_017636.4(TRPM4):c.366G>C (p.Leu122=)Progressive familial heart block type IB [RCV003100393]likely benign194916801549168015Human1name
156369382CV1926789single nucleotide variantNM_017636.4(TRPM4):c.534T>G (p.Thr178=)Progressive familial heart block type IB [RCV002633253]likely benign194916834549168345Human1name
156296977CV1955353duplicationNM_017636.4(TRPM4):c.107dup (p.Cys37fs)Progressive familial heart block type IB [RCV002578054]uncertain significance194916605449166055Human1name
155946988CV1996287single nucleotide variantNM_017636.4(TRPM4):c.468G>A (p.Gly156=)Progressive familial heart block type IB [RCV002685798]likely benign194916827949168279Human1name
156017825CV2020445single nucleotide variantNM_017636.4(TRPM4):c.83C>T (p.Thr28Ile)Progressive familial heart block type IB [RCV002735227]|not provided [RCV004765555]uncertain significance194915825049158250Human1name
156031072CV2036912single nucleotide variantNM_017636.4(TRPM4):c.792G>C (p.Val264=)Cardiovascular phenotype [RCV004064763]|Progressive familial heart block type IB [RCV002781112]likely benign194916873249168732Human1name
156167712CV2056681single nucleotide variantNM_017636.4(TRPM4):c.819C>T (p.Val273=)Progressive familial heart block type IB [RCV002801856]likely benign194917137949171379Human1name
156232928CV2112574single nucleotide variantNM_017636.4(TRPM4):c.405G>A (p.Gln135=)Cardiovascular phenotype [RCV004067048]|Progressive familial heart block type IB [RCV002932904]likely benign194916805449168054Human1name
156135895CV2181527single nucleotide variantNM_017636.4(TRPM4):c.51G>T (p.Lys17Asn)Progressive familial heart block type IB [RCV003039863]uncertain significance194915821849158218Human1name
156333259CV2186549single nucleotide variantNM_017636.4(TRPM4):c.86A>G (p.Asp29Gly)Progressive familial heart block type IB [RCV003063818]uncertain significance194915825349158253Human1name
10767563CV222810single nucleotide variantNM_017636.4(TRPM4):c.58T>A (p.Cys20Ser)Progressive familial heart block type IB [RCV000204919]|not provided [RCV000786236]uncertain significance194915822549158225Human1name
10767013CV222812single nucleotide variantNM_017636.4(TRPM4):c.306T>G (p.Val102=)Cardiovascular phenotype [RCV000621950]|Progressive familial heart block type IB [RCV000204024]|TRPM4-related disorder [RCV004530244]|not provided [RCV003422114]|not specified [RCV000422927]benign|likely benign194916795549167955Human1name , alternate_id
10767685CV222814single nucleotide variantNM_017636.4(TRPM4):c.783G>A (p.Lys261=)Cardiovascular phenotype [RCV000618010]|Progressive familial heart block type IB [RCV000205124]|TRPM4-related disorder [RCV004541298]|not provided [RCV001812211]|not specified [RCV000430985]benign|likely benign194916872349168723Human1name , alternate_id
329363651CV2425859single nucleotide variantNM_017636.4(TRPM4):c.924G>A (p.Ala308=)Cardiovascular phenotype [RCV003168312]|Progressive familial heart block type IB [RCV005101022]likely benign194917164349171643Human1name
329391585CV2452944single nucleotide variantNM_017636.4(TRPM4):c.30G>T (p.Trp10Cys)Cardiovascular phenotype [RCV004277576]uncertain significance194915819749158197Humanname
11544101CV259034single nucleotide variantNM_017636.4(TRPM4):c.618G>A (p.Ser206=)Cardiovascular phenotype [RCV000243339]|Progressive familial heart block type IB [RCV000466483]|TRPM4-related disorder [RCV004535227]|not provided [RCV004703568]|not specified [RCV000442308]benign|likely benign|conflicting interpretations of pathogenicity194916855849168558Human1name , alternate_id
11544558CV259035single nucleotide variantNM_017636.4(TRPM4):c.597C>T (p.Thr199=)Cardiovascular phenotype [RCV000243952]likely benign194916840849168408Humanname
401776090CV2724574single nucleotide variantNM_017636.4(TRPM4):c.546G>A (p.Lys182=)Cardiovascular phenotype [RCV003305844]likely benign194916835749168357Humanname
401776095CV2724577single nucleotide variantNM_017636.4(TRPM4):c.873C>T (p.Ala291=)Cardiovascular phenotype [RCV003305847]likely benign194917159249171592Humanname
405037201CV2945453single nucleotide variantNM_017636.4(TRPM4):c.85G>C (p.Asp29His)Progressive familial heart block type IB [RCV003609423]uncertain significance194915825249158252Human1name
405037499CV2945698single nucleotide variantNM_017636.4(TRPM4):c.642C>G (p.Arg214=)Progressive familial heart block type IB [RCV003609451]likely benign194916858249168582Human1name
405051959CV3040598single nucleotide variantNM_017636.4(TRPM4):c.897C>G (p.Leu299=)Progressive familial heart block type IB [RCV003610595]likely benign194917161649171616Human1name
405053185CV3050028single nucleotide variantNM_017636.4(TRPM4):c.480G>C (p.Thr160=)Progressive familial heart block type IB [RCV003610720]likely benign194916829149168291Human1name
405053627CV3053903single nucleotide variantNM_017636.4(TRPM4):c.576T>C (p.Gly192=)Progressive familial heart block type IB [RCV003610757]likely benign194916838749168387Human1name
405133554CV3115229single nucleotide variantNM_017636.4(TRPM4):c.89C>T (p.Pro30Leu)Progressive familial heart block type IB [RCV003816074]uncertain significance194915825649158256Human1name
405244573CV3161530single nucleotide variantNM_017636.4(TRPM4):c.726C>T (p.Cys242=)Progressive familial heart block type IB [RCV003868242]likely benign194916866649168666Human1name
405729501CV3235481single nucleotide variantNM_017636.4(TRPM4):c.480G>A (p.Thr160=)Cardiovascular phenotype [RCV004018512]|Progressive familial heart block type IB [RCV005103371]likely benign|uncertain significance194916829149168291Human1name
11613448CV334052single nucleotide variantNM_017636.4(TRPM4):c.375G>A (p.Ser125=)Cardiovascular phenotype [RCV000617239]|Progressive familial heart block type IB [RCV000268233]|not provided [RCV004717300]|not specified [RCV000438450]benign|likely benign194916802449168024Human1name
11614891CV334054single nucleotide variantNM_017636.4(TRPM4):c.483C>T (p.Gly161=)Cardiovascular phenotype [RCV002328849]|Progressive familial heart block type IB [RCV000645465]likely benign|conflicting interpretations of pathogenicity|uncertain significance194916829449168294Human1name
11658089CV334065duplicationNM_017636.4(TRPM4):c.1050+13_1050+16dupProgressive familial heart block [RCV000346248]|Progressive familial heart block type IB [RCV002057522]|not provided [RCV001613068]|not specified [RCV001700062]benign|likely benign194917178149171782Human2name
405761505CV3344362single nucleotide variantNM_017636.4(TRPM4):c.318C>A (p.Val106=)Cardiovascular phenotype [RCV004468727]uncertain significance194916796749167967Humanname
405709189CV3381462single nucleotide variantNM_017636.4(TRPM4):c.480G>T (p.Thr160=)Cardiovascular phenotype [RCV004522196]likely benign194916829149168291Humanname
405709197CV3381464single nucleotide variantNM_017636.4(TRPM4):c.49A>G (p.Lys17Glu)Cardiovascular phenotype [RCV004522198]|Progressive familial heart block type IB [RCV005100598]uncertain significance194915821649158216Human1name
405709209CV3381466single nucleotide variantNM_017636.4(TRPM4):c.600C>T (p.Leu200=)Cardiovascular phenotype [RCV004522200]likely benign194916841149168411Humanname
407527705CV3488841single nucleotide variantNM_017636.4(TRPM4):c.651G>T (p.Pro217=)Cardiovascular phenotype [RCV004680114]likely benign194916859149168591Humanname
597713505CV3622022single nucleotide variantNM_017636.4(TRPM4):c.624T>C (p.Pro208=)Cardiovascular phenotype [RCV004991039]likely benign194916856449168564Humanname
597713527CV3622026single nucleotide variantNM_017636.4(TRPM4):c.996A>G (p.Arg332=)Cardiovascular phenotype [RCV004991043]likely benign194917171549171715Humanname
597713582CV3622037single nucleotide variantNM_017636.4(TRPM4):c.627G>T (p.Ala209=)Cardiovascular phenotype [RCV004991054]uncertain significance194916856749168567Humanname
12843764CV377819single nucleotide variantNM_017636.4(TRPM4):c.870C>T (p.Asn290=)Cardiovascular phenotype [RCV000617666]|Progressive familial heart block type IB [RCV001000470]|not provided [RCV001721279]|not specified [RCV000436808]benign|likely benign|conflicting interpretations of pathogenicity194917158949171589Human1name
597941876CV3785896single nucleotide variantNM_017636.4(TRPM4):c.349C>T (p.Leu117=)Progressive familial heart block type IB [RCV005133789]likely benign194916799849167998Human1name
597921591CV3808065single nucleotide variantNM_017636.4(TRPM4):c.741C>T (p.Asn247=)Progressive familial heart block type IB [RCV005155773]likely benign194916868149168681Human1name
597848212CV3824000single nucleotide variantNM_017636.4(TRPM4):c.603C>T (p.Ile201=)Progressive familial heart block type IB [RCV005173239]likely benign194916841449168414Human1name
597845304CV3827602single nucleotide variantNM_017636.4(TRPM4):c.855G>A (p.Leu285=)Progressive familial heart block type IB [RCV005172873]likely benign194917141549171415Human1name
597919297CV3861676single nucleotide variantNM_017636.4(TRPM4):c.801T>C (p.Thr267=)Progressive familial heart block type IB [RCV005204832]likely benign194917136149171361Human1name
597936676CV3862547single nucleotide variantNM_017636.4(TRPM4):c.966G>A (p.Gly322=)Progressive familial heart block type IB [RCV005207819]likely benign194917168549171685Human1name
598215272CV3932178single nucleotide variantNM_017636.4(TRPM4):c.672C>G (p.Pro224=)Cardiovascular phenotype [RCV005292686]likely benign194916861249168612Humanname
598236835CV3932180single nucleotide variantNM_017636.4(TRPM4):c.633C>T (p.Tyr211=)Cardiovascular phenotype [RCV005296115]likely benign194916857349168573Humanname
12880820CV403298single nucleotide variantNM_017636.4(TRPM4):c.354G>C (p.Val118=)Cardiovascular phenotype [RCV002455881]|Progressive familial heart block type IB [RCV000456719]|not provided [RCV001565738]|not specified [RCV005056041]benign|likely benign194916800349168003Human1name
13503453CV468947single nucleotide variantNM_017636.4(TRPM4):c.657C>T (p.Asp219=)Cardiovascular phenotype [RCV002377112]|Progressive familial heart block type IB [RCV000545677]|not provided [RCV001571103]benign|likely benign|conflicting interpretations of pathogenicity194916859749168597Human1name
13534765CV506921single nucleotide variantNM_017636.4(TRPM4):c.651G>A (p.Pro217=)Cardiovascular phenotype [RCV003160078]|Progressive familial heart block type IB [RCV005091609]|not specified [RCV000601999]likely benign194916859149168591Human1name
13532040CV507094single nucleotide variantNM_017636.4(TRPM4):c.829C>T (p.Leu277=)not specified [RCV000601245]likely benign194917138949171389Humanname
13539193CV507095single nucleotide variantNM_017636.4(TRPM4):c.984A>G (p.Gln328=)not specified [RCV000612936]likely benign194917170349171703Humanname
13533461CV507907single nucleotide variantNM_017636.4(TRPM4):c.342C>G (p.Ala114=)Cardiovascular phenotype [RCV000617585]|Progressive familial heart block type IB [RCV001514200]|not provided [RCV001698081]|not specified [RCV005418246]benign|likely benign194916799149167991Human1name
13529934CV510801duplicationNM_017636.4(TRPM4):c.247dup (p.Ala83fs)Cardiovascular phenotype [RCV000622127]|Progressive familial heart block type IB [RCV001314383]|not provided [RCV002223881]uncertain significance194916619049166191Human1name
13533180CV510804single nucleotide variantNM_017636.4(TRPM4):c.582C>A (p.Val194=)Cardiovascular phenotype [RCV000617205]|Progressive familial heart block type IB [RCV002491315]|Progressive familial heart block type IB [RCV005091759]likely benign194916839349168393Human2name
14709692CV656585single nucleotide variantNM_017636.4(TRPM4):c.936G>A (p.Ala312=)Cardiovascular phenotype [RCV002372371]|Progressive familial heart block type IB [RCV001078770]|not provided [RCV000827495]benign|likely benign194917165549171655Human1name
15140953CV742048single nucleotide variantNM_017636.4(TRPM4):c.786G>T (p.Thr262=)Cardiovascular phenotype [RCV005286247]|not provided [RCV000899408]likely benign194916872649168726Humanname
26898693CV847829single nucleotide variantNM_017636.4(TRPM4):c.30G>A (p.Trp10Ter)Progressive familial heart block type IB [RCV001038669]uncertain significance194915819749158197Human1name
26899266CV847830single nucleotide variantNM_017636.4(TRPM4):c.65C>T (p.Thr22Met)Progressive familial heart block type IB [RCV001043152]uncertain significance194915823249158232Human1name
28870888CV882300single nucleotide variantNM_017636.4(TRPM4):c.837T>C (p.Asp279=)Cardiovascular phenotype [RCV003163288]|Progressive familial heart block type IB [RCV001131450]likely benign|conflicting interpretations of pathogenicity|uncertain significance194917139749171397Human1name
38469508CV938770single nucleotide variantNM_017636.4(TRPM4):c.62C>T (p.Thr21Met)Cardiovascular phenotype [RCV004033661]|Progressive familial heart block type IB [RCV001205894]uncertain significance194915822949158229Human1name
126758350CV1013830single nucleotide variantNM_017636.4(TRPM4):c.290C>T (p.Thr97Met)Cardiovascular phenotype [RCV003166832]|Progressive familial heart block type IB [RCV001317753]uncertain significance194916793949167939Human1name
126732491CV1034402single nucleotide variantNM_017636.4(TRPM4):c.294T>A (p.Asp98Glu)Cardiovascular phenotype [RCV002438812]|Progressive familial heart block type IB [RCV001349612]uncertain significance194916794349167943Human1name
127248798CV1084899single nucleotide variantNM_017636.4(TRPM4):c.2886C>A (p.Ile962=)Progressive familial heart block type IB [RCV001399476]likely benign194920071849200718Human1name
127253634CV1084900single nucleotide variantNM_017636.4(TRPM4):c.2887C>T (p.Leu963=)Cardiovascular phenotype [RCV002438975]|Progressive familial heart block type IB [RCV001418355]likely benign194920071949200719Human1name
127278784CV1106647single nucleotide variantNM_017636.4(TRPM4):c.1569C>T (p.Gly523=)Cardiovascular phenotype [RCV003375303]|Progressive familial heart block type IB [RCV001445317]likely benign|uncertain significance194918288349182883Human1name
127242496CV1106648single nucleotide variantNM_017636.4(TRPM4):c.1881T>C (p.Phe627=)Cardiovascular phenotype [RCV002414007]|Progressive familial heart block type IB [RCV001423750]likely benign194918895349188953Human1name
127241781CV1106649single nucleotide variantNM_017636.4(TRPM4):c.2446C>T (p.Leu816=)Progressive familial heart block type IB [RCV001423618]likely benign194919667549196675Human1name
127238198CV1106650single nucleotide variantNM_017636.4(TRPM4):c.2583C>T (p.Ala861=)Cardiovascular phenotype [RCV002456689]|Progressive familial heart block type IB [RCV001422836]|not specified [RCV005405599]likely benign194919681249196812Human1name
127244657CV1106651single nucleotide variantNM_017636.4(TRPM4):c.2733G>C (p.Thr911=)Cardiovascular phenotype [RCV004681178]|Progressive familial heart block type IB [RCV001435086]likely benign194920038749200387Human1name
127312769CV1128037single nucleotide variantNM_017636.4(TRPM4):c.1167G>A (p.Glu389=)Cardiovascular phenotype [RCV004995842]|Progressive familial heart block type IB [RCV001457227]likely benign194918136549181365Human1name
127294016CV1128038single nucleotide variantNM_017636.4(TRPM4):c.1365G>C (p.Leu455=)Progressive familial heart block type IB [RCV001459334]likely benign194918267949182679Human1name
127293375CV1128040single nucleotide variantNM_017636.4(TRPM4):c.2715G>A (p.Arg905=)Progressive familial heart block type IB [RCV001476582]likely benign194920036949200369Human1name
127322463CV1128041single nucleotide variantNM_017636.4(TRPM4):c.2838G>C (p.Val946=)Cardiovascular phenotype [RCV002439111]|Progressive familial heart block type IB [RCV001467596]likely benign194920067049200670Human1name
127291006CV1128042single nucleotide variantNM_017636.4(TRPM4):c.2937C>G (p.Pro979=)Cardiovascular phenotype [RCV002439084]|Progressive familial heart block type IB [RCV001458586]|not provided [RCV001580596]likely benign194920076949200769Human1name
127326713CV1148994single nucleotide variantNM_017636.4(TRPM4):c.1953T>C (p.Asp651=)Cardiovascular phenotype [RCV002421160]|Progressive familial heart block type IB [RCV001506387]likely benign194918902549189025Human1name
127304565CV1148995single nucleotide variantNM_017636.4(TRPM4):c.2436C>T (p.Ser812=)Cardiovascular phenotype [RCV004037195]|Progressive familial heart block type IB [RCV001479535]likely benign194919666549196665Human1name
150418179CV1181787single nucleotide variantNM_017636.4(TRPM4):c.1380G>T (p.Leu460=)Cardiovascular phenotype [RCV004681222]|Progressive familial heart block type IB [RCV002072040]|not provided [RCV001550489]likely benign|uncertain significance194918269449182694Human1name
151352356CV1321301single nucleotide variantNM_017636.4(TRPM4):c.1944C>G (p.Leu648=)not provided [RCV001811759]likely benign194918901649189016Humanname
151723494CV1356798single nucleotide variantNM_017636.4(TRPM4):c.2733G>A (p.Thr911=)Cardiovascular phenotype [RCV002441121]|Progressive familial heart block type IB [RCV001966297]|Progressive familial heart block type IB [RCV002497906]likely benign|uncertain significance194920038749200387Human2name
151888130CV1434090single nucleotide variantNM_017636.4(TRPM4):c.172G>A (p.Val58Met)Progressive familial heart block type IB [RCV002038336]uncertain significance194916612049166120Human1name
151712337CV1489550single nucleotide variantNM_017636.4(TRPM4):c.184G>A (p.Asp62Asn)Cardiovascular phenotype [RCV002407010]|Progressive familial heart block type IB [RCV001889640]uncertain significance194916613249166132Human1name
151785912CV1495362single nucleotide variantNM_017636.4(TRPM4):c.121C>T (p.Arg41Trp)Cardiovascular phenotype [RCV002361404]|Progressive familial heart block type IB [RCV002026710]uncertain significance194916606949166069Human1name
152043220CV1522361single nucleotide variantNM_017636.4(TRPM4):c.1275C>T (p.Leu425=)Cardiovascular phenotype [RCV002372890]|Progressive familial heart block type IB [RCV002088231]likely benign194918258949182589Human1name
152106371CV1527356single nucleotide variantNM_017636.4(TRPM4):c.1620C>T (p.Leu540=)Cardiovascular phenotype [RCV002398258]|Progressive familial heart block type IB [RCV002079664]likely benign194918308949183089Human1name
152158957CV1529154single nucleotide variantNM_017636.4(TRPM4):c.2205T>C (p.Pro735=)Cardiovascular phenotype [RCV004681458]|Progressive familial heart block type IB [RCV002159289]|Progressive familial heart block type IB [RCV002481009]likely benign194919076849190768Human2name
152027591CV1529495single nucleotide variantNM_017636.4(TRPM4):c.2541T>G (p.Pro847=)Progressive familial heart block type IB [RCV002185553]likely benign194919677049196770Human1name
152157965CV1542135single nucleotide variantNM_017636.4(TRPM4):c.2976C>T (p.Asn992=)Progressive familial heart block type IB [RCV002202929]|not provided [RCV003443004]likely benign|uncertain significance194920198649201986Human1name
152026427CV1550278single nucleotide variantNM_017636.4(TRPM4):c.1311G>A (p.Arg437=)Progressive familial heart block type IB [RCV002185151]likely benign194918262549182625Human1name
152075262CV1551155single nucleotide variantNM_017636.4(TRPM4):c.2292G>C (p.Gly764=)Progressive familial heart block type IB [RCV002192325]likely benign194919652149196521Human1name
152139424CV1555065single nucleotide variantNM_017636.4(TRPM4):c.2136A>G (p.Lys712=)Cardiovascular phenotype [RCV003303735]|Progressive familial heart block type IB [RCV002200383]likely benign|uncertain significance194919069949190699Human1name
152060871CV1557449single nucleotide variantNM_017636.4(TRPM4):c.2430C>T (p.Pro810=)Progressive familial heart block type IB [RCV002146758]likely benign194919665949196659Human1name
152097218CV1558114single nucleotide variantNM_017636.4(TRPM4):c.1494C>T (p.Leu498=)Cardiovascular phenotype [RCV002391163]|Progressive familial heart block type IB [RCV002172623]likely benign194918280849182808Human1name
152139644CV1562854single nucleotide variantNM_017636.4(TRPM4):c.1443C>A (p.Ser481=)Progressive familial heart block type IB [RCV002100593]likely benign194918275749182757Human1name
152077686CV1564720single nucleotide variantNM_017636.4(TRPM4):c.1464C>A (p.Ala488=)Progressive familial heart block type IB [RCV002192630]likely benign194918277849182778Human1name
152084710CV1569800single nucleotide variantNM_017636.4(TRPM4):c.2202G>A (p.Gly734=)Progressive familial heart block type IB [RCV002113228]likely benign194919076549190765Human1name
152031803CV1571933single nucleotide variantNM_017636.4(TRPM4):c.2787C>T (p.Asp929=)Cardiovascular phenotype [RCV004681424]|Progressive familial heart block type IB [RCV002186774]|not provided [RCV004704689]likely benign194920061949200619Human1name
152172078CV1575717single nucleotide variantNM_017636.4(TRPM4):c.2268G>A (p.Pro756=)Cardiovascular phenotype [RCV002443261]|Progressive familial heart block type IB [RCV002183721]likely benign194919649749196497Human1name
152044693CV1590582single nucleotide variantNM_017636.4(TRPM4):c.1941G>A (p.Pro647=)Progressive familial heart block type IB [RCV002108200]likely benign194918901349189013Human1name
152107025CV1591866single nucleotide variantNM_017636.4(TRPM4):c.2232G>A (p.Lys744=)Progressive familial heart block type IB [RCV002214953]likely benign194919646149196461Human1name
152091804CV1594355single nucleotide variantNM_017636.4(TRPM4):c.2214G>T (p.Thr738=)Cardiovascular phenotype [RCV002416514]|Progressive familial heart block type IB [RCV002171921]likely benign194919644349196443Human1name
152064090CV1606647single nucleotide variantNM_017636.4(TRPM4):c.1893T>C (p.Tyr631=)Cardiovascular phenotype [RCV004045579]|Progressive familial heart block type IB [RCV002209074]|Progressive familial heart block type IB [RCV002494101]likely benign194918896549188965Human2name
152133600CV1607505single nucleotide variantNM_017636.4(TRPM4):c.1119C>T (p.Phe373=)Progressive familial heart block type IB [RCV002119398]likely benign194917207749172077Human1name
152162075CV1608748single nucleotide variantNM_017636.4(TRPM4):c.2259G>C (p.Ser753=)Progressive familial heart block type IB [RCV002103989]likely benign194919648849196488Human1name
152164912CV1611204single nucleotide variantNM_017636.4(TRPM4):c.1401G>A (p.Ala467=)Progressive familial heart block type IB [RCV002141619]likely benign194918271549182715Human1name
152165900CV1612755single nucleotide variantNM_017636.4(TRPM4):c.1363C>T (p.Leu455=)Progressive familial heart block type IB [RCV002160538]likely benign194918267749182677Human1name
152135134CV1613491single nucleotide variantNM_017636.4(TRPM4):c.1986C>T (p.Asp662=)Cardiovascular phenotype [RCV002416508]|Progressive familial heart block type IB [RCV002156038]likely benign194918905849189058Human1name
152140217CV1613818single nucleotide variantNM_017636.4(TRPM4):c.1665G>A (p.Gly555=)Cardiovascular phenotype [RCV005288730]|Progressive familial heart block type IB [RCV002084058]likely benign194918313449183134Human1name
152049011CV1615881single nucleotide variantNM_017636.4(TRPM4):c.1566G>A (p.Gly522=)Progressive familial heart block type IB [RCV002166626]|TRPM4-related disorder [RCV004531524]likely benign194918288049182880Human1name , alternate_id
152034586CV1621623single nucleotide variantNM_017636.4(TRPM4):c.1113G>A (p.Glu371=)Progressive familial heart block type IB [RCV002205372]likely benign194917207149172071Human1name
152161704CV1622198single nucleotide variantNM_017636.4(TRPM4):c.1293C>T (p.Asp431=)Cardiovascular phenotype [RCV002382463]|Progressive familial heart block type IB [RCV002203545]likely benign194918260749182607Human1name
152043790CV1624450single nucleotide variantNM_017636.4(TRPM4):c.2769G>A (p.Val923=)Cardiovascular phenotype [RCV004046588]|Progressive familial heart block type IB [RCV002126426]likely benign|uncertain significance194920042349200423Human1name
152151811CV1626630single nucleotide variantNM_017636.4(TRPM4):c.2916G>T (p.Leu972=)Cardiovascular phenotype [RCV003382829]|Progressive familial heart block type IB [RCV002202086]likely benign194920074849200748Human1name
152161761CV1635628single nucleotide variantNM_017636.4(TRPM4):c.1869C>A (p.Gly623=)Cardiovascular phenotype [RCV002409615]|Progressive familial heart block type IB [RCV002203554]likely benign194918876649188766Human1name
152107881CV1643378single nucleotide variantNM_017636.4(TRPM4):c.2811C>T (p.Leu937=)Cardiovascular phenotype [RCV002434491]|Progressive familial heart block type IB [RCV002096432]likely benign194920064349200643Human1name
152115927CV1646414single nucleotide variantNM_017636.4(TRPM4):c.2757G>A (p.Lys919=)Cardiovascular phenotype [RCV004046344]|Progressive familial heart block type IB [RCV002135093]likely benign194920041149200411Human1name
152088066CV1655548single nucleotide variantNM_017636.4(TRPM4):c.2076C>T (p.Ala692=)Progressive familial heart block type IB [RCV002193911]likely benign194919026449190264Human1name
152050063CV1656356single nucleotide variantNM_017636.4(TRPM4):c.1212C>T (p.Asn404=)Cardiovascular phenotype [RCV002352808]|Progressive familial heart block type IB [RCV002207407]likely benign194918141049181410Human1name
152073794CV1660461single nucleotide variantNM_017636.4(TRPM4):c.2931G>A (p.Gln977=)Progressive familial heart block type IB [RCV002169634]likely benign194920076349200763Human1name
152068685CV1662333single nucleotide variantNM_017636.4(TRPM4):c.2754C>G (p.Pro918=)Cardiovascular phenotype [RCV002434477]|Progressive familial heart block type IB [RCV002111151]|TRPM4-related disorder [RCV004531354]likely benign194920040849200408Human1name , alternate_id
152034093CV1669451deletionNM_017636.4(TRPM4):c.380del (p.Gly127fs)Progressive familial heart block type IB [RCV003093876]|not provided [RCV002223442]uncertain significance194916802449168024Human1name
155673632CV1774254single nucleotide variantNM_017636.4(TRPM4):c.178G>C (p.Val60Leu)Progressive familial heart block type IB [RCV002297663]uncertain significance194916612649166126Human1name
155683746CV1776832single nucleotide variantNM_017636.4(TRPM4):c.101T>G (p.Leu34Trp)Progressive familial heart block type IB [RCV002298368]uncertain significance194916604949166049Human1name
155664791CV1795484single nucleotide variantNM_017636.4(TRPM4):c.1140C>T (p.Ala380=)Cardiovascular phenotype [RCV002452119]likely benign194917209849172098Humanname
155717403CV1822961duplicationNM_017636.4(TRPM4):c.734dup (p.Glu246fs)Cardiovascular phenotype [RCV002380240]uncertain significance194916866849168669Humanname
155732045CV1826352single nucleotide variantNM_017636.4(TRPM4):c.1353G>A (p.Leu451=)Cardiovascular phenotype [RCV002383308]|Progressive familial heart block type IB [RCV003609233]likely benign194918266749182667Human1name
155713200CV1828115single nucleotide variantNM_017636.4(TRPM4):c.1668G>A (p.Gln556=)Cardiovascular phenotype [RCV002403935]likely benign194918313749183137Humanname
155708976CV1832589single nucleotide variantNM_017636.4(TRPM4):c.1386A>G (p.Gln462=)Cardiovascular phenotype [RCV002396527]|Progressive familial heart block type IB [RCV005097486]likely benign194918270049182700Human1name
155701900CV1833008single nucleotide variantNM_017636.4(TRPM4):c.145A>C (p.Met49Leu)Cardiovascular phenotype [RCV002394769]uncertain significance194916609349166093Humanname
155731454CV1834784single nucleotide variantNM_017636.4(TRPM4):c.1785G>A (p.Leu595=)Cardiovascular phenotype [RCV002407716]likely benign194918868249188682Humanname
155746866CV1835340single nucleotide variantNM_017636.4(TRPM4):c.1884C>T (p.Gly628=)Cardiovascular phenotype [RCV002415361]likely benign194918895649188956Humanname
155721080CV1835877single nucleotide variantNM_017636.4(TRPM4):c.1302G>A (p.Leu434=)Cardiovascular phenotype [RCV002380879]likely benign194918261649182616Humanname
155733399CV1836103single nucleotide variantNM_017636.4(TRPM4):c.1368C>A (p.Thr456=)Cardiovascular phenotype [RCV002383621]|Progressive familial heart block type IB [RCV003095040]likely benign194918268249182682Human1name
155702321CV1837597single nucleotide variantNM_017636.4(TRPM4):c.160G>A (p.Gly54Arg)Cardiovascular phenotype [RCV002394819]uncertain significance194916610849166108Humanname
155743758CV1838623single nucleotide variantNM_017636.4(TRPM4):c.1848G>A (p.Ala616=)Cardiovascular phenotype [RCV002412963]likely benign194918874549188745Humanname
155746097CV1838959single nucleotide variantNM_017636.4(TRPM4):c.1869C>T (p.Gly623=)Cardiovascular phenotype [RCV002415030]likely benign194918876649188766Humanname
155696257CV1840974single nucleotide variantNM_017636.4(TRPM4):c.226G>A (p.Gly76Arg)Cardiovascular phenotype [RCV002443869]uncertain significance194916617449166174Humanname
155705799CV1841150single nucleotide variantNM_017636.4(TRPM4):c.2280G>A (p.Gly760=)Cardiovascular phenotype [RCV002446084]|Progressive familial heart block type IB [RCV005098048]|not specified [RCV005405916]likely benign194919650949196509Human1name
155722579CV1841970single nucleotide variantNM_017636.4(TRPM4):c.250G>T (p.Gly84Cys)Cardiovascular phenotype [RCV002432927]uncertain significance194916619849166198Humanname
155733845CV1842718single nucleotide variantNM_017636.4(TRPM4):c.1902T>C (p.Ser634=)Cardiovascular phenotype [RCV002408289]likely benign194918897449188974Humanname
155725704CV1845008single nucleotide variantNM_017636.4(TRPM4):c.236A>G (p.Asp79Gly)Cardiovascular phenotype [RCV002450161]|Progressive familial heart block type IB [RCV003101763]|not provided [RCV004725281]uncertain significance194916618449166184Human1name
155712186CV1845393single nucleotide variantNM_017636.4(TRPM4):c.2484A>G (p.Glu828=)Cardiovascular phenotype [RCV002430828]likely benign194919671349196713Humanname
155691098CV1847295single nucleotide variantNM_017636.4(TRPM4):c.2217G>A (p.Ala739=)Cardiovascular phenotype [RCV002425942]|Progressive familial heart block type IB [RCV005058755]likely benign194919644649196446Human1name
155684938CV1850837single nucleotide variantNM_017636.4(TRPM4):c.2295G>A (p.Gly765=)Cardiovascular phenotype [RCV002457507]|Progressive familial heart block type IB [RCV005098055]likely benign194919652449196524Human1name
155693352CV1851388single nucleotide variantNM_017636.4(TRPM4):c.2421G>A (p.Pro807=)Cardiovascular phenotype [RCV002459797]|Progressive familial heart block type IB [RCV003101798]likely benign194919665049196650Human1name
155693436CV1851422single nucleotide variantNM_017636.4(TRPM4):c.2424G>A (p.Ala808=)Cardiovascular phenotype [RCV002459816]likely benign194919665349196653Humanname
155693862CV1851524single nucleotide variantNM_017636.4(TRPM4):c.2430C>G (p.Pro810=)Cardiovascular phenotype [RCV002459884]likely benign194919665949196659Humanname
155686740CV1852690single nucleotide variantNM_017636.4(TRPM4):c.2805C>T (p.Phe935=)Cardiovascular phenotype [RCV002441629]|Progressive familial heart block type IB [RCV005098295]likely benign|uncertain significance194920063749200637Human1name
155665632CV1855436single nucleotide variantNM_017636.4(TRPM4):c.2853C>T (p.Leu951=)Cardiovascular phenotype [RCV002435392]|not provided [RCV004546732]likely benign194920068549200685Humanname
155666263CV1856669single nucleotide variantNM_017636.4(TRPM4):c.2991C>T (p.Pro997=)Cardiovascular phenotype [RCV002435501]|Progressive familial heart block type IB [RCV003102954]|not provided [RCV004703274]likely benign194920200149202001Human1name
156324894CV1871099single nucleotide variantNM_017636.4(TRPM4):c.2280G>T (p.Gly760=)Progressive familial heart block type IB [RCV003063331]likely benign194919650949196509Human1name
156352322CV1883354single nucleotide variantNM_017636.4(TRPM4):c.254G>A (p.Arg85His)Progressive familial heart block type IB [RCV003091077]uncertain significance194916620249166202Human1name
156405089CV1883705single nucleotide variantNM_017636.4(TRPM4):c.1950G>A (p.Gly650=)Cardiovascular phenotype [RCV004071878]|Progressive familial heart block type IB [RCV003069912]likely benign194918902249189022Human1name
155962240CV1885025single nucleotide variantNM_017636.4(TRPM4):c.2718G>A (p.Leu906=)Progressive familial heart block type IB [RCV003074746]likely benign194920037249200372Human1name
156191861CV1892994single nucleotide variantNM_017636.4(TRPM4):c.2607A>G (p.Leu869=)Cardiovascular phenotype [RCV004676134]|Progressive familial heart block type IB [RCV003083898]likely benign194919683649196836Human1name
156209201CV1902277single nucleotide variantNM_017636.4(TRPM4):c.2304C>T (p.Cys768=)Progressive familial heart block type IB [RCV003084526]likely benign194919653349196533Human1name
156412507CV1904465single nucleotide variantNM_017636.4(TRPM4):c.2562G>A (p.Gln854=)Progressive familial heart block type IB [RCV002587843]likely benign194919679149196791Human1name
156031428CV1923296single nucleotide variantNM_017636.4(TRPM4):c.2274C>T (p.Cys758=)Progressive familial heart block type IB [RCV002637180]likely benign194919650349196503Human1name
156378754CV1927329single nucleotide variantNM_017636.4(TRPM4):c.2394G>A (p.Ser798=)Progressive familial heart block type IB [RCV002634088]likely benign194919662349196623Human1name
156303448CV1934587single nucleotide variantNM_017636.4(TRPM4):c.1497G>A (p.Arg499=)Progressive familial heart block type IB [RCV002647759]likely benign194918281149182811Human1name
156447568CV1942295single nucleotide variantNM_017636.4(TRPM4):c.1443C>G (p.Ser481=)Progressive familial heart block type IB [RCV003119106]likely benign194918275749182757Human1name
156440631CV1943687single nucleotide variantNM_017636.4(TRPM4):c.2802C>T (p.Leu934=)Progressive familial heart block type IB [RCV003110667]uncertain significance194920063449200634Human1name
156441546CV1944209single nucleotide variantNM_017636.4(TRPM4):c.181T>A (p.Trp61Arg)Progressive familial heart block type IB [RCV003111873]uncertain significance194916612949166129Human1name
156446164CV1951198single nucleotide variantNM_017636.4(TRPM4):c.2319C>T (p.Phe773=)Cardiovascular phenotype [RCV003294633]|Progressive familial heart block type IB [RCV003117130]likely benign194919654849196548Human1name
156235480CV1952760single nucleotide variantNM_017636.4(TRPM4):c.2682C>T (p.Val894=)Progressive familial heart block type IB [RCV002576036]likely benign194920033649200336Human1name
156352576CV1985748single nucleotide variantNM_017636.4(TRPM4):c.2673C>T (p.Gly891=)Progressive familial heart block type IB [RCV002632085]likely benign194920032749200327Human1name
156105792CV1992243single nucleotide variantNM_017636.4(TRPM4):c.2226C>T (p.Ala742=)Progressive familial heart block type IB [RCV002622381]likely benign194919645549196455Human1name
156375240CV2003996single nucleotide variantNM_017636.4(TRPM4):c.1335T>C (p.Ile445=)Progressive familial heart block type IB [RCV002653241]likely benign194918264949182649Human1name
156103412CV2011709single nucleotide variantNM_017636.4(TRPM4):c.248C>G (p.Ala83Gly)Progressive familial heart block type IB [RCV002695392]uncertain significance194916619649166196Human1name
156033394CV2029885single nucleotide variantNM_017636.4(TRPM4):c.2226C>A (p.Ala742=)Progressive familial heart block type IB [RCV002735896]likely benign194919645549196455Human1name
156027850CV2039696single nucleotide variantNM_017636.4(TRPM4):c.2535C>T (p.Pro845=)Progressive familial heart block type IB [RCV002780982]likely benign194919676449196764Human1name
156017337CV2044180single nucleotide variantNM_017636.4(TRPM4):c.2532C>A (p.Gly844=)Progressive familial heart block type IB [RCV002795413]likely benign194919676149196761Human1name
156079459CV2053785single nucleotide variantNM_017636.4(TRPM4):c.1518G>C (p.Val506=)Progressive familial heart block type IB [RCV002823805]likely benign194918283249182832Human1name
156060602CV2069215single nucleotide variantNM_017636.4(TRPM4):c.2196G>A (p.Gly732=)Progressive familial heart block type IB [RCV002846759]likely benign194919075949190759Human1name
156317138CV2071107duplicationNM_017636.4(TRPM4):c.521dup (p.Met175fs)Progressive familial heart block type IB [RCV002834471]uncertain significance194916833149168332Human1name
156128018CV2100690single nucleotide variantNM_017636.4(TRPM4):c.2751G>A (p.Gly917=)Progressive familial heart block type IB [RCV002889831]likely benign194920040549200405Human1name
156115548CV2117517single nucleotide variantNM_017636.4(TRPM4):c.2532C>T (p.Gly844=)Progressive familial heart block type IB [RCV002953292]likely benign194919676149196761Human1name
156308780CV2123279single nucleotide variantNM_017636.4(TRPM4):c.2250G>A (p.Pro750=)Progressive familial heart block type IB [RCV002962498]likely benign194919647949196479Human1name
156225530CV2144477single nucleotide variantNM_017636.4(TRPM4):c.2055C>G (p.Ala685=)Cardiovascular phenotype [RCV004068504]|Progressive familial heart block type IB [RCV003007545]likely benign194919024349190243Human1name
156129648CV2155716single nucleotide variantNM_017636.4(TRPM4):c.1944C>A (p.Leu648=)Progressive familial heart block type IB [RCV003003307]likely benign194918901649189016Human1name
155989151CV2160006single nucleotide variantNM_017636.4(TRPM4):c.1137G>A (p.Lys379=)Progressive familial heart block type IB [RCV003034246]likely benign194917209549172095Human1name
156006428CV2162962single nucleotide variantNM_017636.4(TRPM4):c.1458C>A (p.Thr486=)Progressive familial heart block type IB [RCV003017517]likely benign194918277249182772Human1name
156073325CV2172759single nucleotide variantNM_017636.4(TRPM4):c.1500C>T (p.Pro500=)Cardiovascular phenotype [RCV004990981]|Progressive familial heart block type IB [RCV003053785]likely benign194918281449182814Human1name
155977709CV2246906single nucleotide variantNM_017636.4(TRPM4):c.271C>T (p.Leu91Phe)Cardiovascular phenotype [RCV004112707]uncertain significance194916792049167920Humanname
329364623CV2425865single nucleotide variantNM_017636.4(TRPM4):c.2706C>T (p.Phe902=)Cardiovascular phenotype [RCV003181822]|Progressive familial heart block type IB [RCV003778973]likely benign194920036049200360Human1name
11348673CV243377single nucleotide variantNM_017636.4(TRPM4):c.1368C>G (p.Thr456=)Cardiovascular phenotype [RCV000620174]|Progressive familial heart block type IB [RCV000999846]|not provided [RCV001722262]|not specified [RCV000420786]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance194918268249182682Human1name
11346649CV243378single nucleotide variantNM_017636.4(TRPM4):c.1380G>C (p.Leu460=)Cardiovascular phenotype [RCV002379018]|Progressive familial heart block type IB [RCV000229266]|not provided [RCV001707563]likely benign194918269449182694Human1name
329390150CV2465714single nucleotide variantNM_017636.4(TRPM4):c.2112C>T (p.Tyr704=)Cardiovascular phenotype [RCV003216619]|Progressive familial heart block type IB [RCV003502712]likely benign194919030049190300Human1name
11543438CV259037single nucleotide variantNM_017636.4(TRPM4):c.2934T>C (p.Ile978=)Cardiovascular phenotype [RCV000242456]|Progressive familial heart block type IB [RCV000456969]|not provided [RCV004703567]|not specified [RCV000428549]benign|likely benign194920076649200766Human1name
11549417CV259047single nucleotide variantNM_017636.4(TRPM4):c.1323G>T (p.Val441=)Cardiovascular phenotype [RCV000250397]|Progressive familial heart block type IB [RCV002059036]|not provided [RCV001753736]likely benign194918263749182637Human1name
329951963CV2668709single nucleotide variantNM_017636.4(TRPM4):c.1356C>T (p.Gly452=)Progressive familial heart block type IB [RCV003502714]|not specified [RCV003230790]likely benign194918267049182670Human1name
401765989CV2724558single nucleotide variantNM_017636.4(TRPM4):c.2817G>A (p.Val939=)Cardiovascular phenotype [RCV003301660]likely benign194920064949200649Humanname
401765995CV2724561single nucleotide variantNM_017636.4(TRPM4):c.1341C>T (p.His447=)Cardiovascular phenotype [RCV003301663]likely benign194918265549182655Humanname
401766000CV2724564single nucleotide variantNM_017636.4(TRPM4):c.2259G>T (p.Ser753=)Cardiovascular phenotype [RCV003301666]|Progressive familial heart block type IB [RCV003609277]likely benign194919648849196488Human1name
401766012CV2724569single nucleotide variantNM_017636.4(TRPM4):c.2634C>T (p.Gly878=)Cardiovascular phenotype [RCV003301671]likely benign194919686349196863Humanname
401776094CV2724576single nucleotide variantNM_017636.4(TRPM4):c.1863G>C (p.Gly621=)Cardiovascular phenotype [RCV003305846]likely benign194918876049188760Humanname
401868899CV2784095single nucleotide variantNM_017636.4(TRPM4):c.1191G>A (p.Leu397=)Cardiovascular phenotype [RCV003380384]likely benign194918138949181389Humanname
401868903CV2784097single nucleotide variantNM_017636.4(TRPM4):c.116G>A (p.Arg39His)Cardiovascular phenotype [RCV003380386]uncertain significance194916606449166064Humanname
401868904CV2784098single nucleotide variantNM_017636.4(TRPM4):c.1189C>T (p.Leu397=)Cardiovascular phenotype [RCV003380387]likely benign194918138749181387Humanname
401868907CV2784099single nucleotide variantNM_017636.4(TRPM4):c.1191G>C (p.Leu397=)Cardiovascular phenotype [RCV003380388]likely benign194918138949181389Humanname
401868908CV2784100single nucleotide variantNM_017636.4(TRPM4):c.1191G>T (p.Leu397=)Cardiovascular phenotype [RCV003380389]likely benign194918138949181389Humanname
401868910CV2784101single nucleotide variantNM_017636.4(TRPM4):c.124A>G (p.Thr42Ala)Cardiovascular phenotype [RCV003380390]uncertain significance194916607249166072Humanname
401868912CV2784102single nucleotide variantNM_017636.4(TRPM4):c.2409G>T (p.Val803=)Cardiovascular phenotype [RCV003380391]likely benign194919663849196638Humanname
401868879CV2787597single nucleotide variantNM_017636.4(TRPM4):c.2130C>T (p.Phe710=)Cardiovascular phenotype [RCV003380373]likely benign194919031849190318Humanname
401868889CV2787603single nucleotide variantNM_017636.4(TRPM4):c.1182G>A (p.Leu394=)Cardiovascular phenotype [RCV003380379]likely benign194918138049181380Humanname
402467266CV2855892single nucleotide variantNM_017636.4(TRPM4):c.1869C>G (p.Gly623=)Progressive familial heart block type IB [RCV003503500]uncertain significance194918876649188766Human1name
402467425CV2859700single nucleotide variantNM_017636.4(TRPM4):c.2076C>A (p.Ala692=)Progressive familial heart block type IB [RCV003503542]likely benign194919026449190264Human1name
402468515CV2869215single nucleotide variantNM_017636.4(TRPM4):c.2880A>G (p.Pro960=)Progressive familial heart block type IB [RCV003503871]likely benign194920071249200712Human1name
402468207CV2870587deletionNM_017636.4(TRPM4):c.502del (p.Val168fs)Progressive familial heart block type IB [RCV003503633]uncertain significance194916831349168313Human1name
402468611CV2876556single nucleotide variantNM_017636.4(TRPM4):c.2814C>T (p.Gly938=)Cardiovascular phenotype [RCV004676218]|Progressive familial heart block type IB [RCV003503896]likely benign194920064649200646Human1name
402468761CV2876839single nucleotide variantNM_017636.4(TRPM4):c.1263G>T (p.Arg421=)Progressive familial heart block type IB [RCV003503936]uncertain significance194918146149181461Human1name
402470023CV2885912single nucleotide variantNM_017636.4(TRPM4):c.2007G>A (p.Gln669=)Progressive familial heart block type IB [RCV003504280]uncertain significance194918907949189079Human1name
402469911CV2892386single nucleotide variantNM_017636.4(TRPM4):c.1470C>T (p.Ala490=)Progressive familial heart block type IB [RCV003504250]likely benign194918278449182784Human1name
402470334CV2893487single nucleotide variantNM_017636.4(TRPM4):c.1419C>T (p.Ile473=)Progressive familial heart block type IB [RCV003504366]likely benign194918273349182733Human1name
402470483CV2893537single nucleotide variantNM_017636.4(TRPM4):c.1834A>C (p.Arg612=)Progressive familial heart block type IB [RCV003504404]likely benign194918873149188731Human1name
402470887CV2898075single nucleotide variantNM_017636.4(TRPM4):c.169G>A (p.Val57Met)Cardiovascular phenotype [RCV004992653]|Progressive familial heart block type IB [RCV003504497]likely benign|uncertain significance194916611749166117Human1name
402471312CV2898963single nucleotide variantNM_017636.4(TRPM4):c.286C>G (p.Arg96Gly)Progressive familial heart block type IB [RCV003504569]uncertain significance194916793549167935Human1name
402469370CV2930448single nucleotide variantNM_017636.4(TRPM4):c.1392C>T (p.Tyr464=)Progressive familial heart block type IB [RCV003504077]likely benign194918270649182706Human1name
405035949CV2936503single nucleotide variantNM_017636.4(TRPM4):c.2886C>T (p.Ile962=)Progressive familial heart block type IB [RCV003609312]likely benign194920071849200718Human1name
405036775CV2944691single nucleotide variantNM_017636.4(TRPM4):c.136G>A (p.Ala46Thr)Progressive familial heart block type IB [RCV003609384]uncertain significance194916608449166084Human1name
405037481CV2948917single nucleotide variantNM_017636.4(TRPM4):c.2238G>T (p.Pro746=)Progressive familial heart block type IB [RCV003609449]likely benign194919646749196467Human1name
405038566CV2957907single nucleotide variantNM_017636.4(TRPM4):c.296C>T (p.Pro99Leu)Progressive familial heart block type IB [RCV003609542]uncertain significance194916794549167945Human1name
405045896CV2965800single nucleotide variantNM_017636.4(TRPM4):c.211C>T (p.Pro71Ser)Progressive familial heart block type IB [RCV003610156]uncertain significance194916615949166159Human1name
405044390CV2967306single nucleotide variantNM_017636.4(TRPM4):c.2244G>T (p.Gly748=)Progressive familial heart block type IB [RCV003610047]likely benign194919647349196473Human1name
405046482CV2973274single nucleotide variantNM_017636.4(TRPM4):c.1020C>T (p.Pro340=)Progressive familial heart block type IB [RCV003610201]likely benign194917173949171739Human1name
405049533CV2979943single nucleotide variantNM_017636.4(TRPM4):c.1758T>G (p.Val586=)Progressive familial heart block type IB [RCV003610409]likely benign194918865549188655Human1name
405048122CV2984768single nucleotide variantNM_017636.4(TRPM4):c.215C>T (p.Thr72Ile)Cardiovascular phenotype [RCV004371701]|Progressive familial heart block type IB [RCV003610282]uncertain significance194916616349166163Human1name
405031841CV3009549single nucleotide variantNM_017636.4(TRPM4):c.274C>T (p.Arg92Trp)Progressive familial heart block type IB [RCV003608931]uncertain significance194916792349167923Human1name
405031986CV3016220single nucleotide variantNM_017636.4(TRPM4):c.2010T>C (p.Asp670=)Progressive familial heart block type IB [RCV003608942]likely benign194918908249189082Human1name
405051186CV3024064single nucleotide variantNM_017636.4(TRPM4):c.125C>T (p.Thr42Ile)Progressive familial heart block type IB [RCV003610533]uncertain significance194916607349166073Human1name
405053393CV3043575single nucleotide variantNM_017636.4(TRPM4):c.2427G>T (p.Pro809=)Progressive familial heart block type IB [RCV003610736]likely benign194919665649196656Human1name
405041730CV3073644single nucleotide variantNM_017636.4(TRPM4):c.2376G>T (p.Leu792=)Cardiovascular phenotype [RCV004374300]|Progressive familial heart block type IB [RCV003609839]likely benign194919660549196605Human1name
405042847CV3074758single nucleotide variantNM_017636.4(TRPM4):c.268T>G (p.Phe90Val)Progressive familial heart block type IB [RCV003609933]|not provided [RCV004763762]uncertain significance194916791749167917Human1name
405149324CV3123241single nucleotide variantNM_017636.4(TRPM4):c.119C>T (p.Pro40Leu)Progressive familial heart block type IB [RCV003817474]uncertain significance194916606749166067Human1name
405088649CV3138136single nucleotide variantNM_017636.4(TRPM4):c.2208C>G (p.Val736=)Progressive familial heart block type IB [RCV003834654]uncertain significance194919077149190771Human1name
405051449CV3138295single nucleotide variantNM_017636.4(TRPM4):c.2325C>T (p.Phe775=)Progressive familial heart block type IB [RCV003832139]likely benign194919655449196554Human1name
405043067CV3141196single nucleotide variantNM_017636.4(TRPM4):c.2028G>A (p.Leu676=)Progressive familial heart block type IB [RCV003831489]likely benign194919021649190216Human1name
405191208CV3157067single nucleotide variantNM_017636.4(TRPM4):c.2772C>T (p.Ser924=)Progressive familial heart block type IB [RCV003859755]uncertain significance194920042649200426Human1name
405237532CV3166641single nucleotide variantNM_017636.4(TRPM4):c.115C>T (p.Arg39Cys)Progressive familial heart block type IB [RCV003854091]uncertain significance194916606349166063Human1name
402475982CV3173725single nucleotide variantNM_017636.4(TRPM4):c.2898C>G (p.Val966=)Cardiovascular phenotype [RCV005301408]|Progressive familial heart block type IB [RCV003875263]likely benign194920073049200730Human1name
405254731CV3175506single nucleotide variantNM_017636.4(TRPM4):c.2694C>T (p.Asp898=)Progressive familial heart block type IB [RCV003871773]likely benign194920034849200348Human1name
404987771CV3179815single nucleotide variantNM_017636.4(TRPM4):c.1257A>G (p.Gln419=)Progressive familial heart block type IB [RCV003881292]likely benign194918145549181455Human1name
402474744CV3182806single nucleotide variantNM_017636.4(TRPM4):c.1320C>T (p.Phe440=)Cardiovascular phenotype [RCV004369646]|Progressive familial heart block type IB [RCV003875050]likely benign194918263449182634Human1name
11616328CV334064single nucleotide variantNM_017636.4(TRPM4):c.1041G>T (p.Leu347=)Cardiovascular phenotype [RCV000619015]|Progressive familial heart block type IB [RCV000293611]|not provided [RCV004717301]|not specified [RCV000421232]benign|likely benign194917176049171760Human1name
11622711CV334067single nucleotide variantNM_017636.4(TRPM4):c.1473A>G (p.Leu491=)Cardiovascular phenotype [RCV002392887]|Progressive familial heart block type IB [RCV000363825]|TRPM4-related disorder [RCV004544599]likely benign|conflicting interpretations of pathogenicity|uncertain significance194918278749182787Human1name , alternate_id
11622146CV334068single nucleotide variantNM_017636.4(TRPM4):c.2229G>A (p.Glu743=)Progressive familial heart block type IB [RCV000356793]conflicting interpretations of pathogenicity|uncertain significance194919645849196458Human1name
405761489CV3344359single nucleotide variantNM_017636.4(TRPM4):c.190G>A (p.Asp64Asn)Cardiovascular phenotype [RCV004468724]uncertain significance194916613849166138Humanname
405761501CV3344361single nucleotide variantNM_017636.4(TRPM4):c.247G>T (p.Ala83Ser)Cardiovascular phenotype [RCV004468726]|Progressive familial heart block type IB [RCV005104760]uncertain significance194916619549166195Human1name
405709024CV3381428single nucleotide variantNM_017636.4(TRPM4):c.1081C>T (p.Leu361=)Cardiovascular phenotype [RCV004522162]uncertain significance194917203949172039Humanname
405709030CV3381429single nucleotide variantNM_017636.4(TRPM4):c.1149G>A (p.Lys383=)Cardiovascular phenotype [RCV004522163]likely benign194917210749172107Humanname
405709040CV3381431single nucleotide variantNM_017636.4(TRPM4):c.155C>G (p.Ala52Gly)Cardiovascular phenotype [RCV004522165]|Progressive familial heart block type IB [RCV005059469]uncertain significance194916610349166103Human1name
405709046CV3381432single nucleotide variantNM_017636.4(TRPM4):c.1599C>T (p.Phe533=)Cardiovascular phenotype [RCV004522166]|Progressive familial heart block type IB [RCV005100594]uncertain significance194918291349182913Human1name
405709054CV3381434single nucleotide variantNM_017636.4(TRPM4):c.1641G>C (p.Pro547=)Cardiovascular phenotype [RCV004522168]|Progressive familial heart block type IB [RCV005100595]likely benign194918311049183110Human1name
405709062CV3381436single nucleotide variantNM_017636.4(TRPM4):c.1699C>T (p.Leu567=)Cardiovascular phenotype [RCV004522170]likely benign194918316849183168Humanname
405709066CV3381437single nucleotide variantNM_017636.4(TRPM4):c.1806G>A (p.Leu602=)Cardiovascular phenotype [RCV004522171]likely benign194918870349188703Humanname
405709071CV3381438single nucleotide variantNM_017636.4(TRPM4):c.1998C>T (p.Phe666=)Cardiovascular phenotype [RCV004522172]likely benign194918907049189070Humanname
405709087CV3381441single nucleotide variantNM_017636.4(TRPM4):c.2259G>A (p.Ser753=)Cardiovascular phenotype [RCV004522175]likely benign194919648849196488Humanname
405709096CV3381443single nucleotide variantNM_017636.4(TRPM4):c.2382G>C (p.Leu794=)Cardiovascular phenotype [RCV004522177]likely benign194919661149196611Humanname
405709105CV3381444single nucleotide variantNM_017636.4(TRPM4):c.2406C>T (p.Leu802=)Cardiovascular phenotype [RCV004522178]likely benign194919663549196635Humanname
405709110CV3381445single nucleotide variantNM_017636.4(TRPM4):c.2469G>T (p.Thr823=)Cardiovascular phenotype [RCV004522179]likely benign194919669849196698Humanname
405709120CV3381447single nucleotide variantNM_017636.4(TRPM4):c.2514C>A (p.Gly838=)Cardiovascular phenotype [RCV004522181]likely benign194919674349196743Humanname
405709136CV3381451single nucleotide variantNM_017636.4(TRPM4):c.2685C>T (p.Leu895=)Cardiovascular phenotype [RCV004522185]likely benign194920033949200339Humanname
405709182CV3381460deletionNM_017636.4(TRPM4):c.371del (p.Gly124fs)Cardiovascular phenotype [RCV004522194]uncertain significance194916801549168015Humanname
11623004CV343979single nucleotide variantNM_017636.4(TRPM4):c.136G>T (p.Ala46Ser)Progressive familial heart block type IB [RCV000366846]uncertain significance194916608449166084Human1name
11625050CV343991single nucleotide variantNM_017636.4(TRPM4):c.1242T>C (p.Phe414=)Cardiovascular phenotype [RCV002379217]|Progressive familial heart block type IB [RCV000467270]|not provided [RCV001697672]|not specified [RCV000607635]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance194918144049181440Human1name
11622231CV343992single nucleotide variantNM_017636.4(TRPM4):c.2085C>T (p.Leu695=)Cardiovascular phenotype [RCV002418193]|Progressive familial heart block type IB [RCV000357569]|not provided [RCV001697823]likely benign|conflicting interpretations of pathogenicity|uncertain significance194919027349190273Human1name
407527692CV3488832single nucleotide variantNM_017636.4(TRPM4):c.1485T>C (p.Ala495=)Cardiovascular phenotype [RCV004680105]likely benign194918279949182799Humanname
407527709CV3488843single nucleotide variantNM_017636.4(TRPM4):c.1116A>G (p.Glu372=)Cardiovascular phenotype [RCV004680116]likely benign194917207449172074Humanname
407527710CV3488844single nucleotide variantNM_017636.4(TRPM4):c.1122G>A (p.Glu374=)Cardiovascular phenotype [RCV004680117]uncertain significance194917208049172080Humanname
407527724CV3488852single nucleotide variantNM_017636.4(TRPM4):c.254G>C (p.Arg85Pro)Cardiovascular phenotype [RCV004680125]uncertain significance194916620249166202Humanname
11628785CV350206single nucleotide variantNM_017636.4(TRPM4):c.250G>A (p.Gly84Ser)Cardiovascular phenotype [RCV002450894]|Progressive familial heart block type IB [RCV000309544]likely benign|uncertain significance194916619849166198Human1name
11660363CV350209single nucleotide variantNM_017636.4(TRPM4):c.251G>T (p.Gly84Val)Progressive familial heart block type IB [RCV000366511]uncertain significance194916619949166199Human1name
11654388CV350217single nucleotide variantNM_017636.4(TRPM4):c.2358C>T (p.Asn786=)Progressive familial heart block type IB [RCV000317075]conflicting interpretations of pathogenicity|uncertain significance194919658749196587Human1name
11631760CV350218single nucleotide variantNM_017636.4(TRPM4):c.2380C>T (p.Leu794=)Cardiovascular phenotype [RCV000617920]|Progressive familial heart block type IB [RCV000387953]|not provided [RCV004717303]|not specified [RCV000427152]benign|likely benign194919660949196609Human1name
11658290CV350219single nucleotide variantNM_017636.4(TRPM4):c.2790G>A (p.Val930=)Progressive familial heart block type IB [RCV000347645]uncertain significance194920062249200622Human1name
11630154CV350222single nucleotide variantNM_017636.4(TRPM4):c.2982G>A (p.Ser994=)Cardiovascular phenotype [RCV000617912]|Progressive familial heart block type IB [RCV000460396]|not provided [RCV004717304]|not specified [RCV000421049]benign|likely benign194920199249201992Human1name
596926642CV3530859duplicationNM_017636.4(TRPM4):c.380dup (p.Val129fs)Cardiovascular phenotype [RCV004994466]|not provided [RCV004778444]uncertain significance194916802349168024Humanname
597713517CV3622024single nucleotide variantNM_017636.4(TRPM4):c.2265T>C (p.Arg755=)Cardiovascular phenotype [RCV004991041]likely benign194919649449196494Humanname
597713521CV3622025single nucleotide variantNM_017636.4(TRPM4):c.1494C>G (p.Leu498=)Cardiovascular phenotype [RCV004991042]likely benign194918280849182808Humanname
597713536CV3622028single nucleotide variantNM_017636.4(TRPM4):c.1089C>T (p.Val363=)Cardiovascular phenotype [RCV004991045]likely benign194917204749172047Humanname
597713609CV3622042single nucleotide variantNM_017636.4(TRPM4):c.2511G>A (p.Gly837=)Cardiovascular phenotype [RCV004991059]likely benign194919674049196740Humanname
597713614CV3622043single nucleotide variantNM_017636.4(TRPM4):c.2721T>C (p.Leu907=)Cardiovascular phenotype [RCV004991060]likely benign194920037549200375Humanname
597713635CV3622047single nucleotide variantNM_017636.4(TRPM4):c.1638G>A (p.Ser546=)Cardiovascular phenotype [RCV004991064]|Progressive familial heart block type IB [RCV005061621]likely benign194918310749183107Human1name
597843131CV3735849single nucleotide variantNM_017636.4(TRPM4):c.248C>T (p.Ala83Val)not provided [RCV005065198]uncertain significance194916619649166196Humanname
597911602CV3745633single nucleotide variantNM_017636.4(TRPM4):c.2691C>T (p.Ile897=)Progressive familial heart block type IB [RCV005073634]likely benign194920034549200345Human1name
597911665CV3745641single nucleotide variantNM_017636.4(TRPM4):c.200C>T (p.Thr67Ile)Progressive familial heart block type IB [RCV005073642]uncertain significance194916614849166148Human1name
12836735CV376637single nucleotide variantNM_017636.4(TRPM4):c.1803C>G (p.Arg601=)Cardiovascular phenotype [RCV004022450]|Progressive familial heart block type IB [RCV002522528]|not specified [RCV000423923]likely benign194918870049188700Human1name
597871840CV3768407single nucleotide variantNM_017636.4(TRPM4):c.1323G>A (p.Val441=)Progressive familial heart block type IB [RCV005122786]likely benign194918263749182637Human1name
597872997CV3768829single nucleotide variantNM_017636.4(TRPM4):c.2988G>A (p.Glu996=)Progressive familial heart block type IB [RCV005122999]likely benign194920199849201998Human1name
597922777CV3777789single nucleotide variantNM_017636.4(TRPM4):c.1701G>A (p.Leu567=)Progressive familial heart block type IB [RCV005130513]likely benign194918317049183170Human1name
12840014CV377832single nucleotide variantNM_017636.4(TRPM4):c.1215C>T (p.Arg405=)Cardiovascular phenotype [RCV002356609]|Progressive familial heart block type IB [RCV001423723]|not specified [RCV000429896]likely benign194918141349181413Human1name
597933624CV3780940single nucleotide variantNM_017636.4(TRPM4):c.1833G>A (p.Arg611=)Progressive familial heart block type IB [RCV005117052]likely benign194918873049188730Human1name
597886558CV3787429single nucleotide variantNM_017636.4(TRPM4):c.2451C>G (p.Leu817=)Progressive familial heart block type IB [RCV005124995]likely benign194919668049196680Human1name
597963128CV3791861single nucleotide variantNM_017636.4(TRPM4):c.1680C>T (p.Ser560=)Progressive familial heart block type IB [RCV005139417]likely benign194918314949183149Human1name
597902084CV3796776single nucleotide variantNM_017636.4(TRPM4):c.2286C>G (p.Arg762=)Progressive familial heart block type IB [RCV005152859]likely benign194919651549196515Human1name
597884151CV3799566single nucleotide variantNM_017636.4(TRPM4):c.1713G>A (p.Arg571=)Progressive familial heart block type IB [RCV005150233]likely benign194918318249183182Human1name
597885651CV3800002single nucleotide variantNM_017636.4(TRPM4):c.2655G>A (p.Pro885=)Progressive familial heart block type IB [RCV005150481]likely benign194920030949200309Human1name
597948023CV3800853single nucleotide variantNM_017636.4(TRPM4):c.1521G>C (p.Leu507=)Progressive familial heart block type IB [RCV005135253]likely benign194918283549182835Human1name
597850199CV3803207single nucleotide variantNM_017636.4(TRPM4):c.1152C>T (p.Ala384=)Progressive familial heart block type IB [RCV005145324]likely benign194918135049181350Human1name
597869811CV3803534single nucleotide variantNM_017636.4(TRPM4):c.1563C>T (p.Ser521=)Progressive familial heart block type IB [RCV005148132]likely benign194918287749182877Human1name
597873228CV3805453single nucleotide variantNM_017636.4(TRPM4):c.2472G>A (p.Leu824=)Progressive familial heart block type IB [RCV005148731]likely benign194919670149196701Human1name
597954208CV3812672single nucleotide variantNM_017636.4(TRPM4):c.1683C>T (p.Asp561=)Progressive familial heart block type IB [RCV005161946]likely benign194918315249183152Human1name
597946897CV3817788single nucleotide variantNM_017636.4(TRPM4):c.148G>A (p.Glu50Lys)Progressive familial heart block type IB [RCV005160255]uncertain significance194916609649166096Human1name
597949020CV3818464single nucleotide variantNM_017636.4(TRPM4):c.1440G>A (p.Ala480=)Progressive familial heart block type IB [RCV005160725]likely benign194918275449182754Human1name
597902956CV3845891single nucleotide variantNM_017636.4(TRPM4):c.1908G>A (p.Val636=)Progressive familial heart block type IB [RCV005181513]likely benign194918898049188980Human1name
597903786CV3846032single nucleotide variantNM_017636.4(TRPM4):c.2520C>T (p.Leu840=)Progressive familial heart block type IB [RCV005181654]likely benign194919674949196749Human1name
597943305CV3847648single nucleotide variantNM_017636.4(TRPM4):c.1551G>A (p.Pro517=)Progressive familial heart block type IB [RCV005188376]uncertain significance194918286549182865Human1name
597861685CV3850820single nucleotide variantNM_017636.4(TRPM4):c.153T>G (p.Asp51Glu)Progressive familial heart block type IB [RCV005195953]uncertain significance194916610149166101Human1name
597867055CV3857870single nucleotide variantNM_017636.4(TRPM4):c.1239C>T (p.Leu413=)Progressive familial heart block type IB [RCV005196818]likely benign194918143749181437Human1name
597932771CV3862106single nucleotide variantNM_017636.4(TRPM4):c.183G>C (p.Trp61Cys)Progressive familial heart block type IB [RCV005206970]uncertain significance194916613149166131Human1name
598215258CV3932171single nucleotide variantNM_017636.4(TRPM4):c.2967G>A (p.Glu989=)Cardiovascular phenotype [RCV005292680]likely benign194920197749201977Humanname
598215262CV3932173single nucleotide variantNM_017636.4(TRPM4):c.1434C>T (p.Asp478=)Cardiovascular phenotype [RCV005292682]likely benign194918274849182748Humanname
598236838CV3932181single nucleotide variantNM_017636.4(TRPM4):c.2337G>A (p.Pro779=)Cardiovascular phenotype [RCV005296116]likely benign194919656649196566Humanname
12889627CV403824single nucleotide variantNM_017636.4(TRPM4):c.1371G>A (p.Pro457=)Progressive familial heart block type IB [RCV001450605]likely benign194918268549182685Human1name
12902444CV410646deletionNM_017636.4(TRPM4):c.623del (p.Pro208fs)Cardiovascular phenotype [RCV002367660]|Progressive familial heart block type IB [RCV001342881]|not provided [RCV000487104]uncertain significance194916856149168561Human1name
13217154CV424964duplicationNM_017636.4(TRPM4):c.371dup (p.Ser125fs)Progressive familial heart block type IB [RCV000496992]|not provided [RCV002223217]uncertain significance194916801449168015Human1name
13482116CV446167single nucleotide variantNM_017636.4(TRPM4):c.2508C>T (p.Gly836=)Cardiovascular phenotype [RCV002456020]|Progressive familial heart block type IB [RCV001853688]|not provided [RCV000521696]likely benign|uncertain significance194919673749196737Human1name
13498345CV470395single nucleotide variantNM_017636.4(TRPM4):c.2520C>A (p.Leu840=)Progressive familial heart block type IB [RCV000528411]likely benign194919674949196749Human1name
13468695CV471071single nucleotide variantNM_017636.4(TRPM4):c.1164G>A (p.Ser388=)Cardiovascular phenotype [RCV000621064]|Progressive familial heart block type IB [RCV000559534]|not provided [RCV001584300]|not specified [RCV004586781]benign|likely benign194918136249181362Human1name
13466937CV471081single nucleotide variantNM_017636.4(TRPM4):c.2619C>T (p.Thr873=)Cardiovascular phenotype [RCV000621983]|Progressive familial heart block type IB [RCV000553069]|not provided [RCV004704078]|not specified [RCV000607084]benign|likely benign194919684849196848Human1name
13509897CV482196single nucleotide variantNM_017636.4(TRPM4):c.286C>T (p.Arg96Ter)Cardiomyopathy [RCV000852756]|Cardiovascular phenotype [RCV003372759]|Progressive familial heart block type IB [RCV000765457]|not provided [RCV000579014]likely benign|conflicting interpretations of pathogenicity|uncertain significance194916793549167935Human3name
13536959CV506929single nucleotide variantNM_017636.4(TRPM4):c.2208C>T (p.Val736=)Cardiovascular phenotype [RCV002431772]|Progressive familial heart block type IB [RCV001491400]|not specified [RCV000609724]likely benign194919077149190771Human1name
13526978CV507488single nucleotide variantNM_017636.4(TRPM4):c.1971G>A (p.Leu657=)not specified [RCV000604843]likely benign194918904349189043Humanname
13530002CV507908single nucleotide variantNM_017636.4(TRPM4):c.1332C>T (p.Leu444=)Progressive familial heart block type IB [RCV005091611]|not specified [RCV000600525]likely benign194918264649182646Human1name
13531509CV512428single nucleotide variantNM_017636.4(TRPM4):c.206A>G (p.Glu69Gly)Inborn genetic diseases [RCV000623391]|Progressive familial heart block type IB [RCV003609165]uncertain significance194916615449166154Human2name
13617496CV533114single nucleotide variantNM_017636.4(TRPM4):c.127G>A (p.Ala43Thr)Cardiovascular phenotype [RCV002369709]|Progressive familial heart block type IB [RCV000645469]|Progressive familial heart block type IB [RCV002483861]|not provided [RCV002469231]likely benign|uncertain significance194916607549166075Human2name
13617494CV533221single nucleotide variantNM_017636.4(TRPM4):c.2214G>A (p.Thr738=)Cardiovascular phenotype [RCV002424475]|Progressive familial heart block type IB [RCV000645468]|not provided [RCV000786237]likely benign|uncertain significance194919644349196443Human1name
13818773CV573223single nucleotide variantNM_017636.4(TRPM4):c.194C>T (p.Ala65Val)Progressive familial heart block type IB [RCV000693947]uncertain significance194916614249166142Human1name
14693622CV620645deletionNM_017636.4(TRPM4):c.344del (p.Pro115fs)Cardiovascular phenotype [RCV002458391]|Progressive familial heart block type IB [RCV000779263]uncertain significance194916799049167990Human1name
15120771CV684844single nucleotide variantNM_017636.4(TRPM4):c.2895C>T (p.Arg965=)Progressive familial heart block type IB [RCV001464319]|Progressive familial heart block type IB [RCV002501200]likely benign194920072749200727Human1name
15142678CV689120single nucleotide variantNM_017636.4(TRPM4):c.2361G>A (p.Val787=)Cardiovascular phenotype [RCV002453955]|Progressive familial heart block type IB [RCV001498313]likely benign194919659049196590Human1name
15137302CV689121single nucleotide variantNM_017636.4(TRPM4):c.2535C>G (p.Pro845=)Cardiovascular phenotype [RCV002427116]|Progressive familial heart block type IB [RCV002064498]|Progressive familial heart block type IB [RCV002495244]|TRPM4-related disorder [RCV004538219]|not provided [RCV000864646]benign|likely benign194919676449196764Human2name , alternate_id
15136111CV689122single nucleotide variantNM_017636.4(TRPM4):c.2985G>A (p.Ser995=)Cardiovascular phenotype [RCV003307595]|Progressive familial heart block type IB [RCV001503584]likely benign194920199549201995Human1name
15166867CV742049single nucleotide variantNM_017636.4(TRPM4):c.2629C>T (p.Leu877=)Cardiovascular phenotype [RCV002427261]|Progressive familial heart block type IB [RCV000904535]|not specified [RCV005405398]likely benign194919685849196858Human1name
15129387CV757168single nucleotide variantNM_017636.4(TRPM4):c.1371G>T (p.Pro457=)Progressive familial heart block type IB [RCV001463100]likely benign194918268549182685Human1name
15124364CV757169single nucleotide variantNM_017636.4(TRPM4):c.1488G>A (p.Ala496=)Progressive familial heart block type IB [RCV001416631]likely benign194918280249182802Human1name
15132133CV757170single nucleotide variantNM_017636.4(TRPM4):c.2583C>G (p.Ala861=)Progressive familial heart block type IB [RCV001493494]likely benign194919681249196812Human1name
15179436CV772800single nucleotide variantNM_017636.4(TRPM4):c.1272T>C (p.His424=)Cardiovascular phenotype [RCV002372592]|Progressive familial heart block type IB [RCV001496707]likely benign194918258649182586Human1name
15123690CV772801single nucleotide variantNM_017636.4(TRPM4):c.1710C>T (p.Asn570=)Progressive familial heart block type IB [RCV000940899]likely benign194918317949183179Human1name
15123706CV786252single nucleotide variantNM_017636.4(TRPM4):c.2247C>T (p.Val749=)Progressive familial heart block type IB [RCV001417583]likely benign194919647649196476Human1name
21406395CV800140single nucleotide variantNM_017636.4(TRPM4):c.169G>C (p.Val57Leu)Progressive familial heart block type IB [RCV001002622]uncertain significance194916611749166117Human1name
21405796CV800143single nucleotide variantNM_017636.4(TRPM4):c.2529G>A (p.Gly843=)Cardiovascular phenotype [RCV002427453]|Progressive familial heart block type IB [RCV001001185]likely benign194919675849196758Human1name
26901803CV847831single nucleotide variantNM_017636.4(TRPM4):c.242C>T (p.Thr81Met)Progressive familial heart block type IB [RCV001060506]uncertain significance194916619049166190Human1name
26900897CV847832single nucleotide variantNM_017636.4(TRPM4):c.277C>G (p.Leu93Val)Progressive familial heart block type IB [RCV001054433]uncertain significance194916792649167926Human1name
26902994CV847833single nucleotide variantNM_017636.4(TRPM4):c.287G>A (p.Arg96Gln)Cardiovascular phenotype [RCV002436665]|Progressive familial heart block type IB [RCV001066986]uncertain significance194916793649167936Human1name
26900890CV847843single nucleotide variantNM_017636.4(TRPM4):c.2709G>A (p.Thr903=)Progressive familial heart block type IB [RCV001054411]uncertain significance194920036349200363Human1name
26900318CV847846single nucleotide variantNM_017636.4(TRPM4):c.2844G>A (p.Thr948=)Cardiovascular phenotype [RCV002436597]|Progressive familial heart block type IB [RCV001049999]likely benign|uncertain significance194920067649200676Human1name
28880101CV882299single nucleotide variantNM_017636.4(TRPM4):c.272T>C (p.Leu91Pro)Cardiovascular phenotype [RCV005298707]|Progressive familial heart block type IB [RCV001135788]uncertain significance194916792149167921Human1name
28909672CV882306single nucleotide variantNM_017636.4(TRPM4):c.1836G>A (p.Arg612=)Cardiovascular phenotype [RCV002411637]|Progressive familial heart block type IB [RCV001128898]likely benign|conflicting interpretations of pathogenicity|uncertain significance194918873349188733Human1name
28909676CV882307single nucleotide variantNM_017636.4(TRPM4):c.1843C>T (p.Leu615=)Cardiovascular phenotype [RCV002411638]|Progressive familial heart block type IB [RCV001128899]likely benign|conflicting interpretations of pathogenicity|uncertain significance194918874049188740Human1name
28909682CV882308single nucleotide variantNM_017636.4(TRPM4):c.1908G>C (p.Val636=)Progressive familial heart block type IB [RCV001128903]conflicting interpretations of pathogenicity|uncertain significance194918898049188980Human1name
28871107CV882309single nucleotide variantNM_017636.4(TRPM4):c.2154A>C (p.Thr718=)Cardiovascular phenotype [RCV003293894]|Progressive familial heart block type IB [RCV001131573]likely benign|conflicting interpretations of pathogenicity|uncertain significance194919071749190717Human1name
28873018CV882313single nucleotide variantNM_017636.4(TRPM4):c.2403G>T (p.Leu801=)Cardiovascular phenotype [RCV003163289]|Progressive familial heart block type IB [RCV001132607]likely benign|conflicting interpretations of pathogenicity|uncertain significance194919663249196632Human1name
28880567CV882315single nucleotide variantNM_017636.4(TRPM4):c.2529G>C (p.Gly843=)Progressive familial heart block type IB [RCV001135989]conflicting interpretations of pathogenicity|uncertain significance194919675849196758Human1name
28909824CV882317single nucleotide variantNM_017636.4(TRPM4):c.2712G>T (p.Val904=)Cardiovascular phenotype [RCV002429770]|Progressive familial heart block type IB [RCV001129013]|TRPM4-related disorder [RCV004545075]likely benign|conflicting interpretations of pathogenicity|uncertain significance194920036649200366Human1name , alternate_id
28909829CV882319single nucleotide variantNM_017636.4(TRPM4):c.2835C>T (p.Gly945=)Progressive familial heart block type IB [RCV001129015]uncertain significance194920066749200667Human1name
8636928CV92153single nucleotide variantNM_017636.3(TRPM4):c.1180C>T (p.Leu394=)Malignant melanoma [RCV000072251]not provided194918137849181378Humanname
38464862CV950847single nucleotide variantNM_017636.4(TRPM4):c.131A>G (p.His44Arg)Progressive familial heart block type IB [RCV001237168]uncertain significance194916607949166079Human1name
38465318CV950850single nucleotide variantNM_017636.4(TRPM4):c.1050G>A (p.Gln350=)Cardiovascular phenotype [RCV004034566]|Progressive familial heart block type IB [RCV001238008]|Progressive familial heart block type IB [RCV002491771]uncertain significance194917176949171769Human2name
40887176CV974175single nucleotide variantNM_017636.4(TRPM4):c.217G>A (p.Asp73Asn)Cardiovascular phenotype [RCV004035424]|Progressive familial heart block type IB [RCV001880123]likely benign|uncertain significance194916616549166165Human1name
41405516CV982189single nucleotide variantNM_017636.4(TRPM4):c.2766C>A (p.Ile922=)Cardiovascular phenotype [RCV003294186]|Progressive familial heart block type IB [RCV003770445]|not provided [RCV001813038]likely benign|uncertain significance194920042049200420Human1name
9832562CV178746single nucleotide variantNM_017636.4(TRPM4):c.678C>G (p.Asp226Glu)Progressive familial heart block type IB [RCV002498781]|Short QT syndrome [RCV000157547]|not provided [RCV003332127]uncertain significance194916861849168618Human2name
401796484CV2670289single nucleotide variantNM_017636.4(TRPM4):c.337C>T (p.Arg113Cys)Primary dilated cardiomyopathy [RCV003319258]|Progressive familial heart block type IB [RCV005102472]|not specified [RCV005240734]uncertain significance194916798649167986Human2name
401746494CV2695582single nucleotide variantNM_017636.4(TRPM4):c.344C>T (p.Pro115Leu)Cardiovascular phenotype [RCV004299406]|not provided [RCV004794633]uncertain significance194916799349167993Humanname
401746500CV2695583single nucleotide variantNM_017636.4(TRPM4):c.554C>T (p.Ala185Val)Cardiovascular phenotype [RCV004299407]uncertain significance194916836549168365Humanname
401765993CV2724560single nucleotide variantNM_017636.4(TRPM4):c.764C>T (p.Ser255Phe)Cardiovascular phenotype [RCV003301662]uncertain significance194916870449168704Humanname
401766014CV2724570single nucleotide variantNM_017636.4(TRPM4):c.332G>A (p.Gly111Asp)Cardiovascular phenotype [RCV003301672]uncertain significance194916798149167981Humanname
401766015CV2724571single nucleotide variantNM_017636.4(TRPM4):c.830T>C (p.Leu277Pro)Cardiovascular phenotype [RCV003301673]uncertain significance194917139049171390Humanname
401776093CV2724575single nucleotide variantNM_017636.4(TRPM4):c.901G>A (p.Val301Met)Cardiovascular phenotype [RCV003305845]|Progressive familial heart block type IB [RCV003609278]uncertain significance194917162049171620Human1name
401776096CV2724578single nucleotide variantNM_017636.4(TRPM4):c.575G>T (p.Gly192Val)Cardiovascular phenotype [RCV003305848]uncertain significance194916838649168386Humanname
401799203CV2741780single nucleotide variantNM_017636.4(TRPM4):c.348C>A (p.Asn116Lys)not provided [RCV003323188]uncertain significance194916799749167997Humanname
401858329CV2774295single nucleotide variantNM_017636.4(TRPM4):c.852G>A (p.Met284Ile)Cardiovascular phenotype [RCV004347657]|Progressive familial heart block type IB [RCV005104106]uncertain significance194917141249171412Human1name
401868895CV2784093single nucleotide variantNM_017636.4(TRPM4):c.596C>A (p.Thr199Asn)Cardiovascular phenotype [RCV003380382]|Progressive familial heart block type IB [RCV003609291]|Progressive familial heart block type IB [RCV005399358]uncertain significance194916840749168407Human2name
401926932CV2798782single nucleotide variantNM_017636.4(TRPM4):c.601A>G (p.Ile201Val)TRPM4-related disorder [RCV004528602]uncertain significance194916841249168412Human1name , trait , alternate_id
402468547CV2869422single nucleotide variantNM_017636.4(TRPM4):c.3267C>G (p.Leu1089=)Progressive familial heart block type IB [RCV003503879]likely benign194921034449210344Human1name
402468271CV2875028single nucleotide variantNM_017636.4(TRPM4):c.601A>C (p.Ile201Leu)Progressive familial heart block type IB [RCV003503715]uncertain significance194916841249168412Human1name
402468637CV2876730single nucleotide variantNM_017636.4(TRPM4):c.371G>A (p.Gly124Glu)Progressive familial heart block type IB [RCV003503903]uncertain significance194916802049168020Human1name
402470737CV2887459single nucleotide variantNM_017636.4(TRPM4):c.677A>G (p.Asp226Gly)Progressive familial heart block type IB [RCV003504450]uncertain significance194916861749168617Human1name
402470004CV2889161single nucleotide variantNM_017636.4(TRPM4):c.652G>A (p.Glu218Lys)Progressive familial heart block type IB [RCV003504275]uncertain significance194916859249168592Human1name
402469947CV2892644single nucleotide variantNM_017636.4(TRPM4):c.330G>C (p.Trp110Cys)Progressive familial heart block type IB [RCV003504260]uncertain significance194916797949167979Human1name
405130789CV2899524single nucleotide variantNM_017636.4(TRPM4):c.500G>T (p.Gly167Val)Progressive familial heart block type IB [RCV003502113]uncertain significance194916831149168311Human1name
402466529CV2928377single nucleotide variantNM_017636.4(TRPM4):c.439C>G (p.Gln147Glu)Cardiovascular phenotype [RCV004369451]|Progressive familial heart block type IB [RCV003503299]uncertain significance194916808849168088Human1name
405039282CV2955845single nucleotide variantNM_017636.4(TRPM4):c.866A>G (p.Glu289Gly)Progressive familial heart block type IB [RCV003609604]uncertain significance194917158549171585Human1name
405047694CV2981735single nucleotide variantNM_017636.4(TRPM4):c.908G>T (p.Gly303Val)Progressive familial heart block type IB [RCV003610296]uncertain significance194917162749171627Human1name
405053380CV3043537single nucleotide variantNM_017636.4(TRPM4):c.928T>A (p.Cys310Ser)Progressive familial heart block type IB [RCV003610735]uncertain significance194917164749171647Human1name
405053856CV3044185single nucleotide variantNM_017636.4(TRPM4):c.970G>C (p.Gly324Arg)Progressive familial heart block type IB [RCV003610776]uncertain significance194917168949171689Human1name
405041655CV3076129deletionNM_017636.4(TRPM4):c.2420del (p.Pro807fs)Progressive familial heart block type IB [RCV003609833]uncertain significance194919664849196648Human1name
402516503CV3135849single nucleotide variantNM_017636.4(TRPM4):c.914G>A (p.Gly305Glu)Progressive familial heart block type IB [RCV003824475]uncertain significance194917163349171633Human1name
405078531CV3137029single nucleotide variantNM_017636.4(TRPM4):c.3339T>G (p.Leu1113=)Progressive familial heart block type IB [RCV003833928]likely benign194921072049210720Human1name
405039593CV3141000single nucleotide variantNM_017636.4(TRPM4):c.997G>T (p.Asp333Tyr)Progressive familial heart block type IB [RCV003831293]|not provided [RCV004775515]uncertain significance194917171649171716Human1name
405068787CV3145221single nucleotide variantNM_017636.4(TRPM4):c.3363G>C (p.Leu1121=)Progressive familial heart block type IB [RCV003850806]likely benign194921074449210744Human1name
405170965CV3150046single nucleotide variantNM_017636.4(TRPM4):c.3198C>A (p.Ile1066=)Progressive familial heart block type IB [RCV003841517]likely benign194921027549210275Human1name
405709187CV3381461single nucleotide variantNM_017636.4(TRPM4):c.443G>A (p.Ser148Asn)Cardiovascular phenotype [RCV004522195]uncertain significance194916809249168092Humanname
405709196CV3381463single nucleotide variantNM_017636.4(TRPM4):c.485T>C (p.Ile162Thr)Cardiovascular phenotype [RCV004522197]uncertain significance194916829649168296Humanname
405709203CV3381465single nucleotide variantNM_017636.4(TRPM4):c.581T>C (p.Val194Ala)Cardiovascular phenotype [RCV004522199]uncertain significance194916839249168392Humanname
405709224CV3381469single nucleotide variantNM_017636.4(TRPM4):c.920C>G (p.Ala307Gly)Cardiovascular phenotype [RCV004522203]uncertain significance194917163949171639Humanname
405709228CV3381470single nucleotide variantNM_017636.4(TRPM4):c.970G>A (p.Gly324Arg)Cardiovascular phenotype [RCV004522204]uncertain significance194917168949171689Humanname
405709231CV3381471single nucleotide variantNM_017636.4(TRPM4):c.982C>G (p.Gln328Glu)Cardiovascular phenotype [RCV004522205]uncertain significance194917170149171701Humanname
407527687CV3488829single nucleotide variantNM_017636.4(TRPM4):c.337C>A (p.Arg113Ser)Cardiovascular phenotype [RCV004680102]uncertain significance194916798649167986Humanname
407527691CV3488831single nucleotide variantNM_017636.4(TRPM4):c.3216G>T (p.Arg1072=)Cardiovascular phenotype [RCV004680104]likely benign194921029349210293Humanname
407527711CV3488845single nucleotide variantNM_017636.4(TRPM4):c.304G>C (p.Val102Leu)Cardiovascular phenotype [RCV004680118]uncertain significance194916795349167953Humanname
407527716CV3488848single nucleotide variantNM_017636.4(TRPM4):c.3246C>T (p.Ile1082=)Cardiovascular phenotype [RCV004680121]likely benign194921032349210323Humanname
407508296CV3496353deletionNM_017636.4(TRPM4):c.2245del (p.Val749fs)not provided [RCV004698194]uncertain significance194919647049196470Humanname
408391297CV3527952single nucleotide variantNM_017636.4(TRPM4):c.802G>A (p.Gly268Arg)not provided [RCV004775224]uncertain significance194917136249171362Humanname
597713493CV3622020single nucleotide variantNM_017636.4(TRPM4):c.709G>A (p.Asp237Asn)Cardiovascular phenotype [RCV004991037]uncertain significance194916864949168649Humanname
597713563CV3622033single nucleotide variantNM_017636.4(TRPM4):c.777G>T (p.Gln259His)Cardiovascular phenotype [RCV004991050]uncertain significance194916871749168717Humanname
597713605CV3622041single nucleotide variantNM_017636.4(TRPM4):c.3480A>G (p.Lys1160=)Cardiovascular phenotype [RCV004991058]likely benign194921103349211033Humanname
597713646CV3622049single nucleotide variantNM_017636.4(TRPM4):c.535G>A (p.Gly179Arg)Cardiovascular phenotype [RCV004991066]uncertain significance194916834649168346Humanname
597657024CV3731635single nucleotide variantNM_017636.4(TRPM4):c.785C>A (p.Thr262Lys)not provided [RCV005001816]uncertain significance194916872549168725Humanname
597939304CV3756808deletionNM_017636.4(TRPM4):c.1220del (p.Asp407fs)Progressive familial heart block type IB [RCV005077189]uncertain significance194918141849181418Human1name
597945397CV3776857single nucleotide variantNM_017636.4(TRPM4):c.569C>A (p.Pro190His)Progressive familial heart block type IB [RCV005119712]uncertain significance194916838049168380Human1name
597927236CV3783401single nucleotide variantNM_017636.4(TRPM4):c.927C>G (p.Asp309Glu)Progressive familial heart block type IB [RCV005116088]uncertain significance194917164649171646Human1name
597937416CV3787874single nucleotide variantNM_017636.4(TRPM4):c.770T>C (p.Ile257Thr)Progressive familial heart block type IB [RCV005132753]uncertain significance194916871049168710Human1name
597963136CV3791864single nucleotide variantNM_017636.4(TRPM4):c.781A>G (p.Lys261Glu)Progressive familial heart block type IB [RCV005139420]uncertain significance194916872149168721Human1name
597865794CV3792676single nucleotide variantNM_017636.4(TRPM4):c.3309C>T (p.Ser1103=)Progressive familial heart block type IB [RCV005147483]likely benign194921038649210386Human1name
597955683CV3796268single nucleotide variantNM_017636.4(TRPM4):c.619T>A (p.Phe207Ile)Progressive familial heart block type IB [RCV005137085]uncertain significance194916855949168559Human1name
597889464CV3804841single nucleotide variantNM_017636.4(TRPM4):c.302C>T (p.Ala101Val)Progressive familial heart block type IB [RCV005151103]uncertain significance194916795149167951Human1name
597852890CV3805739single nucleotide variantNM_017636.4(TRPM4):c.475C>T (p.His159Tyr)Progressive familial heart block type IB [RCV005145669]uncertain significance194916828649168286Human1name
597917160CV3811033single nucleotide variantNM_017636.4(TRPM4):c.3474A>C (p.Ala1158=)Progressive familial heart block type IB [RCV005155068]likely benign194921102749211027Human1name
597952040CV3815686single nucleotide variantNM_017636.4(TRPM4):c.442A>G (p.Ser148Gly)Progressive familial heart block type IB [RCV005161439]uncertain significance194916809149168091Human1name
597859201CV3817121single nucleotide variantNM_017636.4(TRPM4):c.871G>A (p.Ala291Thr)Progressive familial heart block type IB [RCV005146502]uncertain significance194917159049171590Human1name
597901253CV3835500single nucleotide variantNM_017636.4(TRPM4):c.583C>T (p.Arg195Trp)Progressive familial heart block type IB [RCV005181224]uncertain significance194916839449168394Human1name
597871626CV3835722deletionNM_017636.4(TRPM4):c.2851del (p.Leu951fs)Progressive familial heart block type IB [RCV005176713]uncertain significance194920068349200683Human1name
597955257CV3841192single nucleotide variantNM_017636.4(TRPM4):c.3223C>T (p.Leu1075=)Cardiovascular phenotype [RCV005303519]|Progressive familial heart block type IB [RCV005191311]likely benign194921030049210300Human1name
597963367CV3841506single nucleotide variantNM_017636.4(TRPM4):c.403C>T (p.Gln135Ter)Progressive familial heart block type IB [RCV005193610]uncertain significance194916805249168052Human1name
597916166CV3845734deletionNM_017636.4(TRPM4):c.16_18del (p.Lys6del)Progressive familial heart block type IB [RCV005183529]uncertain significance194915788049157882Human1name
597857121CV3849823single nucleotide variantNM_017636.4(TRPM4):c.916G>C (p.Gly306Arg)Progressive familial heart block type IB [RCV005195332]uncertain significance194917163549171635Human1name
597911906CV3850594single nucleotide variantNM_017636.4(TRPM4):c.3117C>T (p.Leu1039=)Progressive familial heart block type IB [RCV005203742]likely benign194920212749202127Human1name
597900170CV3850908single nucleotide variantNM_017636.4(TRPM4):c.952A>T (p.Thr318Ser)Progressive familial heart block type IB [RCV005201892]uncertain significance194917167149171671Human1name
597949559CV3852976single nucleotide variantNM_017636.4(TRPM4):c.3234C>T (p.Pro1078=)Progressive familial heart block type IB [RCV005189857]likely benign194921031149210311Human1name
597886016CV3854880single nucleotide variantNM_017636.4(TRPM4):c.863T>C (p.Ile288Thr)Progressive familial heart block type IB [RCV005199725]uncertain significance194917158249171582Human1name
597878049CV3860350single nucleotide variantNM_017636.4(TRPM4):c.811A>G (p.Ile271Val)Progressive familial heart block type IB [RCV005198559]uncertain significance194917137149171371Human1name
597831963CV3864012single nucleotide variantNM_017636.4(TRPM4):c.755G>C (p.Arg252Pro)Progressive familial heart block type IB [RCV005208428]uncertain significance194916869549168695Human1name
598236826CV3932167single nucleotide variantNM_017636.4(TRPM4):c.648C>G (p.Asp216Glu)Cardiovascular phenotype [RCV005296112]uncertain significance194916858849168588Humanname
598215253CV3932169single nucleotide variantNM_017636.4(TRPM4):c.496G>A (p.Val166Ile)Cardiovascular phenotype [RCV005292679]uncertain significance194916830749168307Humanname
598236840CV3932182single nucleotide variantNM_017636.4(TRPM4):c.3066G>C (p.Leu1022=)Cardiovascular phenotype [RCV005296117]likely benign194920207649202076Humanname
598215280CV3932188single nucleotide variantNM_017636.4(TRPM4):c.566C>A (p.Ala189Asp)Cardiovascular phenotype [RCV005292690]uncertain significance194916837749168377Humanname
598236856CV3932191single nucleotide variantNM_017636.4(TRPM4):c.502G>A (p.Val168Met)Cardiovascular phenotype [RCV005296122]uncertain significance194916831349168313Humanname
616937569CV4011219single nucleotide variantNM_017636.4(TRPM4):c.3210C>T (p.His1070=)not specified [RCV005405065]likely benign194921028749210287Humanname
616938588CV4013261single nucleotide variantNM_017636.4(TRPM4):c.773C>T (p.Ser258Leu)not provided [RCV005410728]uncertain significance194916871349168713Humanname
617153431CV4018525single nucleotide variantNM_017636.4(TRPM4):c.661G>T (p.Val221Phe)not specified [RCV005418786]uncertain significance194916860149168601Humanname
8602641CV44161single nucleotide variantNM_017636.4(TRPM4):c.490C>T (p.Arg164Trp)Cardiovascular phenotype [RCV002345254]|Progressive familial heart block type IB [RCV000029160]pathogenic|uncertain significance194916830149168301Human1name
8636929CV92154single nucleotide variantNM_017636.4(TRPM4):c.3556C>T (p.Leu1186=)Progressive familial heart block type IB [RCV003851753]likely benign|not provided194921118549211185Human1name
150557298CV1310677single nucleotide variantNM_017636.4(TRPM4):c.2820G>T (p.Trp940Cys)Cardiovascular phenotype [RCV002440869]|Progressive familial heart block type IB [RCV001885130]|TRPM4-related disorder [RCV004733379]|not provided [RCV001776411]likely benign|uncertain significance194920065249200652Human1alternate_id
9832564CV178748single nucleotide variantNM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)Arrhythmogenic right ventricular cardiomyopathy [RCV000852761]|Cardiovascular phenotype [RCV000620360]|Progressive familial heart block type IB [RCV001001338]|TRPM4-related disorder [RCV004535027]|Ventricular fibrillation [RCV000157549]|not provided [RCV00181213benign|likely benign|uncertain significance194918315149183151Human5alternate_id
155739495CV1801743single nucleotide variantNM_017636.4(TRPM4):c.1180C>G (p.Leu394Val)Cardiovascular phenotype [RCV002342603]|Progressive familial heart block type IB [RCV003096394]|TRPM4-related disorder [RCV004534061]|not specified [RCV004690289]uncertain significance194918137849181378Human1alternate_id
156062861CV1925733single nucleotide variantNM_017636.4(TRPM4):c.542C>T (p.Thr181Ile)Cardiovascular phenotype [RCV004992532]|Progressive familial heart block type IB [RCV002621007]|TRPM4-related disorder [RCV004733597]uncertain significance194916835349168353Human1alternate_id
10768260CV222811single nucleotide variantNM_017636.4(TRPM4):c.301G>A (p.Ala101Thr)Cardiovascular phenotype [RCV000619013]|Progressive familial heart block type IB [RCV000206109]|TRPM4-related disorder [RCV004530243]|not provided [RCV003422113]|not specified [RCV000440103]benign|likely benign194916795049167950Human1alternate_id
11039951CV224554single nucleotide variantNM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys)Brugada syndrome [RCV003448288]|Cardiovascular phenotype [RCV000617330]|Progressive familial heart block type IB [RCV001082907]|TRPM4-related disorder [RCV004530252]|not provided [RCV000231318]|not specified [RCV000208070]likely benign|conflicting interpretations of pathogenicity|uncertain significance194916795749167957Human3alternate_id
11350026CV243379deletionNM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del)Brugada syndrome [RCV000496011]|Cardiomyopathy [RCV000852760]|Cardiovascular phenotype [RCV000620470]|Progressive familial heart block type IB [RCV001001639]|TRPM4-related disorder [RCV004541447]|not provided [RCV001706269]|not specified [RCV003330601]benign|likely benign|uncertain significance194918277249182807Human5alternate_id
11346125CV243381single nucleotide variantNM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)Cardiomyopathy [RCV000852765]|Cardiovascular phenotype [RCV002436037]|Progressive familial heart block type IB [RCV001084074]|Progressive familial heart block type IB [RCV005396815]|TRPM4-related disorder [RCV000387261]|not provided [RCV000419640]likely benign|conflicting interpretations of pathogenicity|uncertain significance194920039449200394Human4alternate_id
401868913CV2784103single nucleotide variantNM_017636.4(TRPM4):c.2542G>C (p.Gly848Arg)Cardiovascular phenotype [RCV003380392]|TRPM4-related disorder [RCV004529631]uncertain significance194919677149196771Human1alternate_id
405284198CV3196693single nucleotide variantNM_017636.4(TRPM4):c.3219C>T (p.Pro1073=)TRPM4-related disorder [RCV004542526]likely benign194921029649210296Human1trait , alternate_id
405277069CV3198710single nucleotide variantNM_017636.4(TRPM4):c.2542G>A (p.Gly848Ser)TRPM4-related disorder [RCV004536960]uncertain significance194919677149196771Human1trait , alternate_id
11625814CV343989single nucleotide variantNM_017636.4(TRPM4):c.988G>A (p.Glu330Lys)Cardiovascular phenotype [RCV002379216]|Progressive familial heart block type IB [RCV000864968]|TRPM4-related disorder [RCV004544598]|not provided [RCV001705496]|not specified [RCV000431456]likely benign|conflicting interpretations of pathogenicity|uncertain significance194917170749171707Human1alternate_id
11626205CV349255single nucleotide variantNM_017636.4(TRPM4):c.2231A>T (p.Lys744Met)Cardiovascular phenotype [RCV004992177]|Progressive familial heart block type IB [RCV000645470]|TRPM4-related disorder [RCV004537835]|not specified [RCV005238913]likely benign|conflicting interpretations of pathogenicity|uncertain significance194919646049196460Human1alternate_id
408382620CV3503523single nucleotide variantNM_017636.4(TRPM4):c.1129G>A (p.Val377Ile)TRPM4-related disorder [RCV004730033]uncertain significance194917208749172087Human1trait , alternate_id
408376228CV3505687indelNM_017636.4(TRPM4):c.749_750delinsTT (p.Arg250Leu)TRPM4-related disorder [RCV004726644]uncertain significance194916868949168690Humantrait , alternate_id
12741084CV360403single nucleotide variantNM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter)Cardiovascular phenotype [RCV000618995]|Progressive familial heart block type IB [RCV000645473]|TRPM4-related disorder [RCV004544727]|not provided [RCV003422382]|not specified [RCV000414033]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance194919648349196483Human1alternate_id
12837206CV376642single nucleotide variantNM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)Cardiovascular phenotype [RCV002429383]|Long QT syndrome [RCV003318376]|Progressive familial heart block type IB [RCV000538303]|TRPM4-related disorder [RCV004533001]|not provided [RCV001703669]|not specified [RCV003488591]likely benign|conflicting interpretations of pathogenicity|uncertain significance194919679049196790Human3alternate_id
12844986CV377837single nucleotide variantNM_017636.4(TRPM4):c.3450C>T (p.Arg1150=)Cardiovascular phenotype [RCV000618280]|Progressive familial heart block type IB [RCV001312760]|TRPM4-related disorder [RCV004732882]|not provided [RCV000438995]likely benign|uncertain significance194921083149210831Human1alternate_id
8602642CV44162single nucleotide variantNM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)Cardiovascular phenotype [RCV000249699]|Progressive familial heart block type IB [RCV000029161]|TRPM4-related disorder [RCV004541017]|not provided [RCV000434894]|not specified [RCV004526600]pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance194919676049196760Human1alternate_id
13500723CV470377single nucleotide variantNM_017636.4(TRPM4):c.1376G>A (p.Arg459His)Cardiovascular phenotype [RCV002384174]|Progressive familial heart block type IB [RCV000538128]|TRPM4-related disorder [RCV004541720]|not provided [RCV003317271]|not specified [RCV005404678]likely benign|uncertain significance194918269049182690Human1alternate_id
13497506CV470390single nucleotide variantNM_017636.4(TRPM4):c.1756G>C (p.Val586Leu)Cardiovascular phenotype [RCV002404489]|Progressive familial heart block type IB [RCV000524939]|Progressive familial heart block type IB [RCV002491064]|TRPM4-related disorder [RCV004538016]|not provided [RCV001539138]uncertain significance194918865349188653Human2alternate_id
13466194CV471078single nucleotide variantNM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg)Cardiovascular phenotype [RCV002431644]|Hypertrophic cardiomyopathy [RCV000852762]|Progressive familial heart block type IB [RCV000550136]|TRPM4-related disorder [RCV004538017]|not provided [RCV001811055]|not specified [RCV000604082]benign|likely benign|conflicting interpretations of pathogenicity194919077249190772Human3alternate_id
13540116CV506927single nucleotide variantNM_017636.4(TRPM4):c.2156G>A (p.Arg719Gln)Cardiovascular phenotype [RCV002431781]|Progressive familial heart block type IB [RCV000645472]|TRPM4-related disorder [RCV004530788]|not provided [RCV004704117]|not specified [RCV000614256]likely benign194919071949190719Human1alternate_id
150456617CV1219511deletionNM_017636.4(TRPM4):c.1264-325_1264-322delnot provided [RCV001612726]benign194918225149182254Humanname
150499841CV1283031deletionNM_017636.4(TRPM4):c.1264-102_1264-101delnot provided [RCV001718268]benign194918247649182477Humanname
150443359CV1232570insertionNM_017636.4(TRPM4):c.2953+219_2953+220insCTnot provided [RCV001645538]benign194920100349201004Humanname
156099738CV2007717insertionNM_017636.4(TRPM4):c.1050+16_1050+17insTGGCProgressive familial heart block type IB [RCV002695259]likely benign194917178249171783Human1name
41405344CV982188insertionNM_017636.4(TRPM4):c.1050+15_1050+16insGCGGnone provided [RCV001286046]benign194917178249171783Humanname
150489709CV1250906insertionNM_017636.4(TRPM4):c.1264-330_1264-329insTGTCnot provided [RCV001674573]benign194918224649182247Humanname
150495657CV1283017insertionNM_017636.4(TRPM4):c.1264-334_1264-333insTGTCnot provided [RCV001717431]benign194918224249182243Humanname
151838220CV1468253microsatelliteNM_017636.4(TRPM4):c.1608+25_1608+26insAGGGGGGProgressive familial heart block type IB [RCV001956422]likely benign194918294149182942Humanname
150409200CV1178411insertionNM_017636.4(TRPM4):c.1264-330_1264-329insTGTCCATCnot provided [RCV001546169]likely benign194918224249182243Humanname
126766429CV1013838duplicationNM_017636.4(TRPM4):c.2295dup (p.Arg766fs)Cardiovascular phenotype [RCV002447354]|Progressive familial heart block type IB [RCV001320440]|not provided [RCV001569749]uncertain significance194919651849196519Human1name
127254965CV1106646single nucleotide variantNM_017636.4(TRPM4):c.885G>T (p.Gln295His)Cardiovascular phenotype [RCV002377681]|Progressive familial heart block type IB [RCV001426408]|not provided [RCV001558690]likely benign194917160449171604Human1name
127337718CV1128044single nucleotide variantNM_017636.4(TRPM4):c.3339T>C (p.Leu1113=)Progressive familial heart block type IB [RCV001475818]likely benign194921072049210720Human1name
155683652CV1792485single nucleotide variantNM_017636.4(TRPM4):c.3453G>A (p.Thr1151=)Cardiovascular phenotype [RCV002457218]|Progressive familial heart block type IB [RCV003099495]likely benign194921083449210834Human1name
11631231CV349247single nucleotide variantNM_017636.4(TRPM4):c.748C>T (p.Arg250Cys)Cardiovascular phenotype [RCV002392886]|Progressive familial heart block type IB [RCV000866194]|not provided [RCV001532389]likely benign|conflicting interpretations of pathogenicity|uncertain significance194916868849168688Human1name
13211278CV419291single nucleotide variantNM_017636.4(TRPM4):c.739A>T (p.Asn247Tyr)Hypertrophic cardiomyopathy [RCV000498985]uncertain significance194916867949168679Human2name
14723982CV648238single nucleotide variantNM_017636.4(TRPM4):c.982C>T (p.Gln328Ter)Progressive familial heart block type IB [RCV000798209]uncertain significance194917170149171701Human1name