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Variants search result for All species
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521 records found for search term Dbh
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
28881717CV901459single nucleotide variantNM_000787.4(DBH):c.*52G>AOrthostatic hypotension 1 [RCV001167711]uncertain significance9133658499133658499Human1name , alternate_id
28881721CV901460single nucleotide variantNM_000787.4(DBH):c.*58G>AOrthostatic hypotension 1 [RCV001167712]benign9133658505133658505Human1name , alternate_id
28881725CV901461single nucleotide variantNM_000787.4(DBH):c.*73C>TOrthostatic hypotension 1 [RCV001167713]uncertain significance9133658520133658520Human1name , alternate_id
28881728CV901462single nucleotide variantNM_000787.4(DBH):c.*89A>GOrthostatic hypotension 1 [RCV001167714]|not provided [RCV004706059]likely benign9133658536133658536Human1name , alternate_id
10448404CV214409single nucleotide variantNM_000787.3(DBH):c.-979T>COrthostatic hypotension 1 [RCV000201837]benign|not provided9133635393133635393Human1name , alternate_id
11606051CV307424single nucleotide variantNM_000787.4(DBH):c.*431C>TOrthostatic hypotension 1 [RCV000326664]uncertain significance9133658878133658878Human1name , alternate_id
11661948CV307428single nucleotide variantNM_000787.4(DBH):c.*459A>GOrthostatic hypotension 1 [RCV000381380]uncertain significance9133658906133658906Human1name , alternate_id
11606126CV307440single nucleotide variantNM_000787.4(DBH):c.*845G>AOrthostatic hypotension 1 [RCV000328002]uncertain significance9133659292133659292Human1name , alternate_id
11610627CV311677single nucleotide variantNM_000787.4(DBH):c.*100C>TOrthostatic hypotension 1 [RCV000384217]|not provided [RCV001712164]benign9133658547133658547Human1name , alternate_id
11607984CV311680single nucleotide variantNM_000787.4(DBH):c.*213A>COrthostatic hypotension 1 [RCV000349523]uncertain significance9133658660133658660Human1name , alternate_id
11658667CV311684single nucleotide variantNM_000787.4(DBH):c.*283A>COrthostatic hypotension 1 [RCV000351033]uncertain significance9133658730133658730Human1name , alternate_id
11659350CV311692single nucleotide variantNM_000787.4(DBH):c.*383C>TOrthostatic hypotension 1 [RCV000356913]uncertain significance9133658830133658830Human1name , alternate_id
11649844CV317240single nucleotide variantNM_000787.4(DBH):c.*116G>AOrthostatic hypotension 1 [RCV000289786]uncertain significance9133658563133658563Human1name , alternate_id
11603160CV317244single nucleotide variantNM_000787.4(DBH):c.*318C>AOrthostatic hypotension 1 [RCV000297139]uncertain significance9133658765133658765Human1name , alternate_id
11659438CV317245single nucleotide variantNM_000787.4(DBH):c.*401C>TOrthostatic hypotension 1 [RCV000357998]uncertain significance9133658848133658848Human1name , alternate_id
11599618CV317250single nucleotide variantNM_000787.4(DBH):c.*415C>TOrthostatic hypotension 1 [RCV000266918]uncertain significance9133658862133658862Human1name , alternate_id
11612379CV317621single nucleotide variantNM_000787.4(DBH):c.*222C>TOrthostatic hypotension 1 [RCV000408184]uncertain significance9133658669133658669Human1name , alternate_id
11605017CV317622single nucleotide variantNM_000787.4(DBH):c.*278T>COrthostatic hypotension 1 [RCV000314850]|not provided [RCV004718604]benign|likely benign9133658725133658725Human1name , alternate_id
11662905CV317623single nucleotide variantNM_000787.4(DBH):c.*315G>AOrthostatic hypotension 1 [RCV000390544]uncertain significance9133658762133658762Human1name , alternate_id
11603741CV317636single nucleotide variantNM_000787.4(DBH):c.*390G>AOrthostatic hypotension 1 [RCV000303176]|not provided [RCV004718605]benign|likely benign9133658837133658837Human1name , alternate_id
11662547CV317658single nucleotide variantNM_000787.4(DBH):c.*846G>AOrthostatic hypotension 1 [RCV000387211]uncertain significance9133659293133659293Human1name , alternate_id
28881731CV901463single nucleotide variantNM_000787.4(DBH):c.*180A>GOrthostatic hypotension 1 [RCV001167715]uncertain significance9133658627133658627Human1name , alternate_id
28888329CV901464single nucleotide variantNM_000787.4(DBH):c.*253C>GOrthostatic hypotension 1 [RCV001169587]uncertain significance9133658700133658700Human1name , alternate_id
28888330CV901465single nucleotide variantNM_000787.4(DBH):c.*268A>GOrthostatic hypotension 1 [RCV001169588]uncertain significance9133658715133658715Human1name , alternate_id
28888334CV901466single nucleotide variantNM_000787.4(DBH):c.*319C>TOrthostatic hypotension 1 [RCV001169589]uncertain significance9133658766133658766Human1name , alternate_id
28875056CV901467single nucleotide variantNM_000787.4(DBH):c.*320G>AOrthostatic hypotension 1 [RCV001165610]uncertain significance9133658767133658767Human1name , alternate_id
28875059CV901468single nucleotide variantNM_000787.4(DBH):c.*393C>TOrthostatic hypotension 1 [RCV001165611]|not provided [RCV004695078]uncertain significance9133658840133658840Human1name , alternate_id
28875061CV901469single nucleotide variantNM_000787.4(DBH):c.*394C>TOrthostatic hypotension 1 [RCV001165612]likely benign9133658841133658841Human1name , alternate_id
28875064CV901470single nucleotide variantNM_000787.4(DBH):c.*398C>TOrthostatic hypotension 1 [RCV001165613]uncertain significance9133658845133658845Human1name , alternate_id
28875067CV901471single nucleotide variantNM_000787.4(DBH):c.*414C>GOrthostatic hypotension 1 [RCV001165614]uncertain significance9133658861133658861Human1name , alternate_id
28880009CV901472single nucleotide variantNM_000787.4(DBH):c.*425C>TOrthostatic hypotension 1 [RCV001167200]uncertain significance9133658872133658872Human1name , alternate_id
28880014CV901473single nucleotide variantNM_000787.4(DBH):c.*482C>TOrthostatic hypotension 1 [RCV001167201]uncertain significance9133658929133658929Human1name , alternate_id
28880017CV901474single nucleotide variantNM_000787.4(DBH):c.*493C>TOrthostatic hypotension 1 [RCV001167202]uncertain significance9133658940133658940Human1name , alternate_id
28880022CV901475single nucleotide variantNM_000787.4(DBH):c.*649C>TOrthostatic hypotension 1 [RCV001167203]uncertain significance9133659096133659096Human1name , alternate_id
28880024CV901476single nucleotide variantNM_000787.4(DBH):c.*698C>TOrthostatic hypotension 1 [RCV001167204]uncertain significance9133659145133659145Human1name , alternate_id
28882002CV901477single nucleotide variantNM_000787.4(DBH):c.*837T>GOrthostatic hypotension 1 [RCV001167780]|not provided [RCV004718828]benign9133659284133659284Human1name , alternate_id
28882007CV901478single nucleotide variantNM_000787.4(DBH):c.*840C>TOrthostatic hypotension 1 [RCV001167781]benign9133659287133659287Human1name , alternate_id
28882012CV901479single nucleotide variantNM_000787.4(DBH):c.*844C>TOrthostatic hypotension 1 [RCV001167782]likely benign9133659291133659291Human1name , alternate_id
127295227CV1119440single nucleotide variantNM_000787.4(DBH):c.922-7C>TOrthostatic hypotension 1 [RCV001477048]likely benign9133644211133644211Human1name , alternate_id
151830507CV1379090deletionNM_000787.4(DBH):c.744+4delInborn genetic diseases [RCV002555277]|Orthostatic hypotension 1 [RCV001935009]uncertain significance9133642468133642468Human2name , alternate_id
151882179CV1402506single nucleotide variantNM_000787.4(DBH):c.921+5G>AOrthostatic hypotension 1 [RCV001961865]uncertain significance9133643594133643594Human1name , alternate_id
8556426CV16789single nucleotide variantNM_000787.4(DBH):c.339+2T>COrthostatic hypotension 1 [RCV000001820]|not provided [RCV000486465]pathogenic9133636712133636712Human2name , alternate_id
8556426CV16789single nucleotide variantNM_000787.4(DBH):c.339+2T>COrthostatic hypotension 1 [RCV000001820]|not provided [RCV000486465]pathogenic9133636712133636713Human2name , alternate_id
156444547CV1938406single nucleotide variantNM_000787.4(DBH):c.744+5G>AOrthostatic hypotension 1 [RCV003115471]uncertain significance9133642469133642469Human1name , alternate_id
156011213CV2041828single nucleotide variantNM_000787.4(DBH):c.744+4C>TOrthostatic hypotension 1 [RCV002780153]uncertain significance9133642468133642468Human1name , alternate_id
156148303CV2131070single nucleotide variantNM_000787.4(DBH):c.744+5G>TOrthostatic hypotension 1 [RCV002982560]uncertain significance9133642469133642469Human1name , alternate_id
156168688CV2133480single nucleotide variantNM_000787.4(DBH):c.921+4C>TOrthostatic hypotension 1 [RCV003005319]uncertain significance9133643593133643593Human1name , alternate_id
156023294CV2139005single nucleotide variantNM_000787.4(DBH):c.487-9C>TOrthostatic hypotension 1 [RCV002998786]likely benign9133642198133642198Human1name , alternate_id
405110032CV2876118single nucleotide variantNM_000787.4(DBH):c.921+7G>AOrthostatic hypotension 1 [RCV003499126]likely benign9133643596133643596Human1name , alternate_id
11612166CV311662single nucleotide variantNM_000787.4(DBH):c.744+8C>TOrthostatic hypotension 1 [RCV000404964]|not provided [RCV004718602]benign|uncertain significance9133642472133642472Human1name , alternate_id
11656399CV311666single nucleotide variantNM_000787.4(DBH):c.921+8C>TOrthostatic hypotension 1 [RCV000333318]conflicting interpretations of pathogenicity|uncertain significance9133643597133643597Human1name , alternate_id
405206160CV3161944single nucleotide variantNM_000787.4(DBH):c.487-8G>TOrthostatic hypotension 1 [RCV003861438]likely benign9133642199133642199Human1name , alternate_id
597934043CV3777005single nucleotide variantNM_000787.4(DBH):c.339+7C>AOrthostatic hypotension 1 [RCV005117164]likely benign9133636717133636717Human1name , alternate_id
150484128CV1222426single nucleotide variantNM_000787.4(DBH):c.744+50C>Tnot provided [RCV001617429]benign9133642514133642514Humanname
150488174CV1226018single nucleotide variantNM_000787.4(DBH):c.340-45C>Tnot provided [RCV001618179]benign9133639801133639801Humanname
150489372CV1237645single nucleotide variantNM_000787.4(DBH):c.922-28C>TOrthostatic hypotension 1 [RCV001658374]|not provided [RCV001654494]benign9133644190133644190Human1name , alternate_id
150460912CV1264241single nucleotide variantNM_000787.4(DBH):c.922-65G>Tnot provided [RCV001682158]benign9133644153133644153Human1name
150446598CV1271891single nucleotide variantNM_000787.4(DBH):c.487-28G>Anot provided [RCV001691305]benign9133642179133642179Humanname
150511795CV1284785single nucleotide variantNM_000787.4(DBH):c.921+53C>Tnot provided [RCV001721654]benign9133643642133643642Humanname
151861995CV1353958single nucleotide variantNM_000787.4(DBH):c.1024+6C>TOrthostatic hypotension 1 [RCV001959335]uncertain significance9133644326133644326Human1name , alternate_id
151875273CV1507837single nucleotide variantNM_000787.4(DBH):c.486+16G>AOrthostatic hypotension 1 [RCV001960964]likely benign9133640008133640008Human1name , alternate_id
152037692CV1529646single nucleotide variantNM_000787.4(DBH):c.922-18A>COrthostatic hypotension 1 [RCV002187779]likely benign9133644200133644200Human1name , alternate_id
152037967CV1576562single nucleotide variantNM_000787.4(DBH):c.921+14G>AOrthostatic hypotension 1 [RCV002107307]likely benign9133643603133643603Human1name , alternate_id
152112933CV1640703single nucleotide variantNM_000787.4(DBH):c.340-18C>AOrthostatic hypotension 1 [RCV002174561]likely benign9133639828133639828Human1name , alternate_id
156113838CV1880806single nucleotide variantNM_000787.4(DBH):c.486+14G>AOrthostatic hypotension 1 [RCV003081156]likely benign9133640006133640006Human1name , alternate_id
156310396CV1895329single nucleotide variantNM_000787.4(DBH):c.1722+5G>AOrthostatic hypotension 1 [RCV003088410]uncertain significance9133657234133657234Human1name , alternate_id
156253758CV1993662single nucleotide variantNM_000787.4(DBH):c.1336-7G>COrthostatic hypotension 1 [RCV002627537]likely benign9133652239133652239Human1name , alternate_id
156135545CV2120682single nucleotide variantNM_000787.4(DBH):c.745-14C>TOrthostatic hypotension 1 [RCV002982120]likely benign9133643399133643399Human1name , alternate_id
156104239CV2164588single nucleotide variantNM_000787.4(DBH):c.1336-4C>GOrthostatic hypotension 1 [RCV003038699]likely benign9133652242133652242Human1name , alternate_id
405110183CV2869317single nucleotide variantNM_000787.4(DBH):c.1192-6C>TOrthostatic hypotension 1 [RCV003499155]likely benign9133651628133651628Human1name , alternate_id
405110080CV2872601single nucleotide variantNM_000787.4(DBH):c.921+16C>GOrthostatic hypotension 1 [RCV003499135]likely benign9133643605133643605Human1name , alternate_id
11606909CV307375single nucleotide variantNM_000787.4(DBH):c.486+13C>TOrthostatic hypotension 1 [RCV000337149]|not provided [RCV001718787]benign|likely benign9133640005133640005Human1name , alternate_id
11610156CV307418single nucleotide variantNM_000787.4(DBH):c.1722+4C>TOrthostatic hypotension 1 [RCV000378048]benign|conflicting interpretations of pathogenicity|uncertain significance9133657233133657233Human1name , alternate_id
405151448CV3123398single nucleotide variantNM_000787.4(DBH):c.1335+9C>TOrthostatic hypotension 1 [RCV003817631]likely benign9133651786133651786Human1name , alternate_id
11611322CV317190single nucleotide variantNM_000787.4(DBH):c.486+15C>TOrthostatic hypotension 1 [RCV000393532]uncertain significance9133640007133640007Human1name , alternate_id
11601105CV317212single nucleotide variantNM_000787.4(DBH):c.1024+6C>GOrthostatic hypotension 1 [RCV000279427]|not provided [RCV001595003]benign9133644326133644326Human1name , alternate_id
11609942CV317214single nucleotide variantNM_000787.4(DBH):c.1025-6T>AOrthostatic hypotension 1 [RCV000374973]|not provided [RCV000437872]conflicting interpretations of pathogenicity|uncertain significance9133647840133647840Human1name , alternate_id
11600724CV317226single nucleotide variantNM_000787.4(DBH):c.1563-5A>GOrthostatic hypotension 1 [RCV000276266]|not provided [RCV001672719]benign9133657065133657065Human1name , alternate_id
11605093CV317595single nucleotide variantNM_000787.4(DBH):c.1024+9C>TDBH-related disorder [RCV003972542]|Orthostatic hypotension 1 [RCV000315668]|not provided [RCV001683448]benign|likely benign9133644329133644329Human1name , trait , alternate_id
11603288CV317608single nucleotide variantNM_000787.4(DBH):c.1563-3C>TOrthostatic hypotension 1 [RCV000298734]uncertain significance9133657067133657067Human1name , alternate_id
597849339CV3824421single nucleotide variantNM_000787.4(DBH):c.1192-1G>AOrthostatic hypotension 1 [RCV005173460]likely pathogenic9133651633133651633Human1name , alternate_id
597833272CV3831491single nucleotide variantNM_000787.4(DBH):c.1375-8T>COrthostatic hypotension 1 [RCV005170693]likely benign9133652932133652932Human1name , alternate_id
597939493CV3836461single nucleotide variantNM_000787.4(DBH):c.921+13C>TOrthostatic hypotension 1 [RCV005187482]likely benign9133643602133643602Human1name , alternate_id
597944267CV3847843single nucleotide variantNM_000787.4(DBH):c.340-14G>AOrthostatic hypotension 1 [RCV005188572]likely benign9133639832133639832Human1name , alternate_id
597867204CV3861732single nucleotide variantNM_000787.4(DBH):c.1025-4C>TOrthostatic hypotension 1 [RCV005196873]likely benign9133647842133647842Human1name , alternate_id
15191098CV730618duplicationNM_000787.4(DBH):c.1723-5dupnot provided [RCV000888285]likely benign9133658309133658310Humanname
15177619CV744456duplicationNM_000787.4(DBH):c.1563-6dupOrthostatic hypotension 1 [RCV002537601]likely benign9133657060133657061Human1name , alternate_id
15142574CV759730single nucleotide variantNM_000787.4(DBH):c.1562+8C>GOrthostatic hypotension 1 [RCV003497904]|not provided [RCV004707482]likely benign9133656658133656658Human1name , alternate_id
28881512CV903348single nucleotide variantNM_000787.4(DBH):c.1434+9C>TOrthostatic hypotension 1 [RCV001167652]uncertain significance9133653008133653008Human1name , alternate_id
127266414CV1076178single nucleotide variantNM_000787.4(DBH):c.1192-10G>AOrthostatic hypotension 1 [RCV001403866]likely benign9133651624133651624Human1name , alternate_id
150497424CV1219404single nucleotide variantNM_000787.4(DBH):c.1375-54G>Anot provided [RCV001620073]benign9133652886133652886Humanname
150501734CV1224269single nucleotide variantNM_000787.4(DBH):c.1435-85T>Cnot provided [RCV001620910]benign9133656438133656438Humanname
150516821CV1227260single nucleotide variantNM_000787.4(DBH):c.1025-62G>Anot provided [RCV001639360]benign9133647784133647784Humanname
150488035CV1237421single nucleotide variantNM_000787.4(DBH):c.1024+72G>Anot provided [RCV001654270]benign9133644392133644392Humanname
150458609CV1248961single nucleotide variantNM_000787.4(DBH):c.486+127A>Gnot provided [RCV001669138]benign9133640119133640119Human3name
150437529CV1249884single nucleotide variantNM_000787.4(DBH):c.744+156A>Gnot provided [RCV001665798]benign9133642620133642620Humanname
150470305CV1259802single nucleotide variantNM_000787.4(DBH):c.1435-48C>Tnot provided [RCV001684104]benign9133656475133656475Humanname
150438998CV1264908single nucleotide variantNM_000787.4(DBH):c.1375-80G>Anot provided [RCV001678901]benign9133652860133652860Humanname
150499126CV1270769single nucleotide variantNM_000787.4(DBH):c.1722+75T>Cnot provided [RCV001689318]benign9133657304133657304Humanname
150498345CV1271495single nucleotide variantNM_000787.4(DBH):c.339+109G>Cnot provided [RCV001689185]benign9133636819133636819Humanname
150450589CV1276489single nucleotide variantNM_000787.4(DBH):c.1191+49T>Cnot provided [RCV001708278]benign9133648061133648061Humanname
150453344CV1276834single nucleotide variantNM_000787.4(DBH):c.921+189T>Gnot provided [RCV001708624]benign9133643778133643778Humanname
150509302CV1284503single nucleotide variantNM_000787.4(DBH):c.1191+69C>Gnot provided [RCV001720611]benign9133648081133648081Humanname
151741726CV1335523single nucleotide variantNM_000787.4(DBH):c.1374+24T>GOrthostatic hypotension 1 [RCV001845044]not provided9133652308133652308Humanname , alternate_id
151890397CV1350520single nucleotide variantNM_000787.4(DBH):c.1435-20G>AOrthostatic hypotension 1 [RCV002038806]likely benign|uncertain significance9133656503133656503Human1name , alternate_id
152148934CV1545300single nucleotide variantNM_000787.4(DBH):c.1434+14G>AOrthostatic hypotension 1 [RCV002121472]likely benign9133653013133653013Human1name , alternate_id
152164187CV1557520single nucleotide variantNM_000787.4(DBH):c.1335+17C>GOrthostatic hypotension 1 [RCV002141469]likely benign9133651794133651794Human1name , alternate_id
152152267CV1565134single nucleotide variantNM_000787.4(DBH):c.1435-18G>AOrthostatic hypotension 1 [RCV002102408]likely benign9133656505133656505Human1name , alternate_id
152084060CV1576954deletionNM_000787.4(DBH):c.1374+16delOrthostatic hypotension 1 [RCV002193398]benign9133652298133652298Human1name , alternate_id
152088674CV1577238single nucleotide variantNM_000787.4(DBH):c.1191+19G>AOrthostatic hypotension 1 [RCV002212419]likely benign9133648031133648031Human1name , alternate_id
152090064CV1580760single nucleotide variantNM_000787.4(DBH):c.1335+16C>TOrthostatic hypotension 1 [RCV002094045]likely benign9133651793133651793Human1name , alternate_id
152043182CV1581563single nucleotide variantNM_000787.4(DBH):c.1723-12C>AOrthostatic hypotension 1 [RCV002071282]likely benign9133658304133658304Human1name , alternate_id
152063958CV1612180single nucleotide variantNM_000787.4(DBH):c.1435-19G>TOrthostatic hypotension 1 [RCV002128705]likely benign9133656504133656504Human1name , alternate_id
156194349CV1889427single nucleotide variantNM_000787.4(DBH):c.1435-14C>TOrthostatic hypotension 1 [RCV003083981]likely benign9133656509133656509Human1name , alternate_id
156187756CV1919407single nucleotide variantNM_000787.4(DBH):c.1336-17G>AOrthostatic hypotension 1 [RCV002595272]uncertain significance9133652229133652229Human1name , alternate_id
156418583CV1922356single nucleotide variantNM_000787.4(DBH):c.1722+18C>TOrthostatic hypotension 1 [RCV002611782]likely benign9133657247133657247Human1name , alternate_id
156396124CV1924770single nucleotide variantNM_000787.4(DBH):c.1024+19A>GOrthostatic hypotension 1 [RCV002654926]likely benign9133644339133644339Human1name , alternate_id
156291735CV1929406single nucleotide variantNM_000787.4(DBH):c.1191+10G>AOrthostatic hypotension 1 [RCV002647226]likely benign9133648022133648022Human1name , alternate_id
156289446CV2047141single nucleotide variantNM_000787.4(DBH):c.1191+18C>TOrthostatic hypotension 1 [RCV002770705]likely benign9133648030133648030Human1name , alternate_id
155957277CV2087068single nucleotide variantNM_000787.4(DBH):c.1435-20G>COrthostatic hypotension 1 [RCV002862675]likely benign9133656503133656503Human1name , alternate_id
156144951CV2117996single nucleotide variantNM_000787.4(DBH):c.1336-18C>TOrthostatic hypotension 1 [RCV002928697]likely benign9133652228133652228Human1name , alternate_id
405105206CV2860711single nucleotide variantNM_000787.4(DBH):c.1375-15T>COrthostatic hypotension 1 [RCV003498065]likely benign9133652925133652925Human1name , alternate_id
405020255CV2961992single nucleotide variantNM_000787.4(DBH):c.1434+10C>AOrthostatic hypotension 1 [RCV003600810]likely benign9133653009133653009Human1name , alternate_id
405027760CV2968328single nucleotide variantNM_000787.4(DBH):c.1336-11G>TOrthostatic hypotension 1 [RCV003601499]likely benign9133652235133652235Human1name , alternate_id
405014799CV3037795single nucleotide variantNM_000787.4(DBH):c.1722+11A>GOrthostatic hypotension 1 [RCV003600146]likely benign9133657240133657240Human1name , alternate_id
405022091CV3054799single nucleotide variantNM_000787.4(DBH):c.1722+15G>COrthostatic hypotension 1 [RCV003600914]likely benign9133657244133657244Human1name , alternate_id
405023987CV3065065single nucleotide variantNM_000787.4(DBH):c.1723-18C>TOrthostatic hypotension 1 [RCV003601181]likely benign9133658298133658298Human1name , alternate_id
405094765CV3118994single nucleotide variantNM_000787.4(DBH):c.1335+11G>AOrthostatic hypotension 1 [RCV003811445]likely benign9133651788133651788Human1name , alternate_id
405186000CV3124329single nucleotide variantNM_000787.4(DBH):c.1375-17C>TOrthostatic hypotension 1 [RCV003820528]likely benign9133652923133652923Human1name , alternate_id
405052426CV3151253single nucleotide variantNM_000787.4(DBH):c.1375-19C>AOrthostatic hypotension 1 [RCV003849662]likely benign9133652921133652921Human1name , alternate_id
402468283CV3174298single nucleotide variantNM_000787.4(DBH):c.1563-18G>AOrthostatic hypotension 1 [RCV003873581]likely benign9133657052133657052Human1name , alternate_id
405254560CV3175410single nucleotide variantNM_000787.4(DBH):c.1192-16C>TOrthostatic hypotension 1 [RCV003871677]likely benign9133651618133651618Human1name , alternate_id
11607637CV317597single nucleotide variantNM_000787.4(DBH):c.1335+13A>GOrthostatic hypotension 1 [RCV000345841]|not provided [RCV001672718]benign9133651790133651790Human1name , alternate_id
405251965CV3177541single nucleotide variantNM_000787.4(DBH):c.1374+14G>AOrthostatic hypotension 1 [RCV003870499]likely benign9133652298133652298Human1name , alternate_id
597919698CV3737991single nucleotide variantNM_000787.4(DBH):c.1722+19G>AOrthostatic hypotension 1 [RCV005074590]likely benign9133657248133657248Human1name , alternate_id
597831232CV3739951single nucleotide variantNM_000787.4(DBH):c.1562+20G>COrthostatic hypotension 1 [RCV005062649]likely benign9133656670133656670Human1name , alternate_id
597936826CV3759852single nucleotide variantNM_000787.4(DBH):c.1191+16C>GOrthostatic hypotension 1 [RCV005076774]likely benign9133648028133648028Human1name , alternate_id
597900615CV3796582single nucleotide variantNM_000787.4(DBH):c.1025-15C>TOrthostatic hypotension 1 [RCV005152665]likely benign9133647831133647831Human1name , alternate_id
28874856CV903349single nucleotide variantNM_000787.4(DBH):c.1722+13G>TOrthostatic hypotension 1 [RCV001165540]conflicting interpretations of pathogenicity|uncertain significance9133657242133657242Human1name , alternate_id
150509403CV1229880single nucleotide variantNM_000787.4(DBH):c.1336-217C>Gnot provided [RCV001636460]benign9133652029133652029Humanname
150433421CV1230520single nucleotide variantNM_000787.4(DBH):c.1024+192T>Cnot provided [RCV001643465]benign9133644512133644512Humanname
150462014CV1234852duplicationNM_000787.4(DBH):c.1722+202dupnot provided [RCV001649434]benign9133657430133657431Humanname
150495104CV1241513single nucleotide variantNM_000787.4(DBH):c.1335+110T>Cnot provided [RCV001655520]benign9133651887133651887Humanname
150506082CV1242126single nucleotide variantNM_000787.4(DBH):c.1336-222A>Cnot provided [RCV001658479]benign9133652024133652024Humanname
150511309CV1242674single nucleotide variantNM_000787.4(DBH):c.1024+237C>Gnot provided [RCV001661026]benign9133644557133644557Humanname
150446636CV1250694single nucleotide variantNM_000787.4(DBH):c.1335+223G>Anot provided [RCV001667199]benign9133652000133652000Humanname
150500561CV1256122single nucleotide variantNM_000787.4(DBH):c.1024+179C>Tnot provided [RCV001676746]benign9133644499133644499Humanname
150482019CV1261548single nucleotide variantNM_000787.4(DBH):c.1336-219A>Gnot provided [RCV001686151]benign9133652027133652027Humanname
150461122CV1270609single nucleotide variantNM_000787.4(DBH):c.1192-181G>Anot provided [RCV001693599]benign9133651453133651453Humanname
150495362CV1272614single nucleotide variantNM_000787.4(DBH):c.1192-186C>Anot provided [RCV001688537]benign9133651448133651448Humanname
150509441CV1284538single nucleotide variantNM_000787.4(DBH):c.1024+146C>Tnot provided [RCV001720646]benign9133644466133644466Humanname
11646779CV317641deletionNM_000787.4(DBH):c.*565_*566delOrthostatic hypotension 1 [RCV000272865]uncertain significance9133659011133659012Human1name , alternate_id
151868047CV1348790deletionNM_000787.4(DBH):c.1191+6_1191+9delOrthostatic hypotension 1 [RCV001924851]uncertain significance9133648017133648020Human1name , alternate_id
156333849CV1966700single nucleotide variantNM_000787.4(DBH):c.87C>T (p.Phe29=)Orthostatic hypotension 1 [RCV002600932]likely benign9133636458133636458Human1name , alternate_id
155995518CV2147951deletionNM_000787.4(DBH):c.745-14_745-13delOrthostatic hypotension 1 [RCV003017034]uncertain significance9133643399133643400Human1name , alternate_id
156297486CV2328909single nucleotide variantNM_000787.4(DBH):c.7G>T (p.Ala3Ser)Inborn genetic diseases [RCV002936085]uncertain significance9133636378133636378Human1name
405031975CV3073320single nucleotide variantNM_000787.4(DBH):c.33C>T (p.Pro11=)Orthostatic hypotension 1 [RCV003601848]likely benign9133636404133636404Human1name , alternate_id
15147037CV736986single nucleotide variantNM_000787.4(DBH):c.88C>T (p.Leu30=)Orthostatic hypotension 1 [RCV005092673]likely benign9133636459133636459Human1name , alternate_id
151854878CV1481878single nucleotide variantNM_000787.4(DBH):c.26G>A (p.Ser9Asn)Orthostatic hypotension 1 [RCV002033649]uncertain significance9133636397133636397Human1name , alternate_id
151760324CV1497193single nucleotide variantNM_000787.4(DBH):c.231G>A (p.Leu77=)Orthostatic hypotension 1 [RCV001987188]likely benign|uncertain significance9133636602133636602Human1name , alternate_id
152133146CV1557424single nucleotide variantNM_000787.4(DBH):c.228C>G (p.Leu76=)Orthostatic hypotension 1 [RCV002137197]likely benign9133636599133636599Human1name , alternate_id
152030124CV1566014single nucleotide variantNM_000787.4(DBH):c.120G>A (p.Ser40=)Orthostatic hypotension 1 [RCV002086038]likely benign9133636491133636491Human1name , alternate_id
152147649CV1576778single nucleotide variantNM_000787.4(DBH):c.204C>A (p.Thr68=)Orthostatic hypotension 1 [RCV002178966]likely benign9133636575133636575Human1name , alternate_id
152036710CV1646016single nucleotide variantNM_000787.4(DBH):c.270C>T (p.Ser90=)Orthostatic hypotension 1 [RCV002205709]likely benign9133636641133636641Human1name , alternate_id
156374687CV1871757single nucleotide variantNM_000787.4(DBH):c.237G>A (p.Arg79=)Orthostatic hypotension 1 [RCV003066607]likely benign9133636608133636608Human1name , alternate_id
155962505CV1881681single nucleotide variantNM_000787.4(DBH):c.279C>T (p.Gly93=)Orthostatic hypotension 1 [RCV003074761]likely benign9133636650133636650Human1name , alternate_id
156185571CV1933792single nucleotide variantNM_000787.4(DBH):c.183C>T (p.Leu61=)Orthostatic hypotension 1 [RCV002625187]likely benign9133636554133636554Human1name , alternate_id
156218056CV1995557single nucleotide variantNM_000787.4(DBH):c.10C>T (p.Leu4Phe)Orthostatic hypotension 1 [RCV002667116]uncertain significance9133636381133636381Human1name , alternate_id
11605608CV311661single nucleotide variantNM_000787.4(DBH):c.105C>T (p.Ala35=)Orthostatic hypotension 1 [RCV000321607]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance9133636476133636476Human1name , alternate_id
597944081CV3754944single nucleotide variantNM_000787.4(DBH):c.186A>G (p.Ser62=)Orthostatic hypotension 1 [RCV005078133]likely benign9133636557133636557Human1name , alternate_id
597932551CV3812749single nucleotide variantNM_000787.4(DBH):c.138C>T (p.Pro46=)Orthostatic hypotension 1 [RCV005157281]likely benign9133636509133636509Human1name , alternate_id
15099114CV723420single nucleotide variantNM_000787.4(DBH):c.165G>A (p.Pro55=)Orthostatic hypotension 1 [RCV001169430]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133636536133636536Human1name , alternate_id
15168901CV751521single nucleotide variantNM_000787.4(DBH):c.291C>T (p.Asn97=)Orthostatic hypotension 1 [RCV000927390]likely benign|conflicting interpretations of pathogenicity9133636662133636662Human1name , alternate_id
28885069CV901439single nucleotide variantNM_000787.4(DBH):c.16C>A (p.Arg6Ser)Orthostatic hypotension 1 [RCV001168665]uncertain significance9133636387133636387Human1name , alternate_id
38485817CV925464single nucleotide variantNM_000787.4(DBH):c.17G>A (p.Arg6His)Inborn genetic diseases [RCV002562493]|Orthostatic hypotension 1 [RCV001220018]uncertain significance9133636388133636388Human2name , alternate_id
127242932CV1076177single nucleotide variantNM_000787.4(DBH):c.789C>T (p.His263=)Orthostatic hypotension 1 [RCV001398265]likely benign9133643457133643457Human1name , alternate_id
127296442CV1119439single nucleotide variantNM_000787.4(DBH):c.888C>G (p.Arg296=)Orthostatic hypotension 1 [RCV001477345]likely benign9133643556133643556Human1name , alternate_id
127286606CV1140265single nucleotide variantNM_000787.4(DBH):c.558G>A (p.Ser186=)Orthostatic hypotension 1 [RCV001494461]likely benign9133642278133642278Human1name , alternate_id
127327791CV1140266single nucleotide variantNM_000787.4(DBH):c.606C>T (p.Ile202=)Orthostatic hypotension 1 [RCV001486481]likely benign9133642326133642326Human1name , alternate_id
150514244CV1210932microsatelliteNM_000787.4(DBH):c.1335+164GGTGTCT[3]not provided [RCV001598975]benign9133651940133651941Humanname
151787865CV1412916single nucleotide variantNM_000787.4(DBH):c.339G>A (p.Ala113=)Orthostatic hypotension 1 [RCV001989775]uncertain significance9133636710133636710Human1name , alternate_id
151875041CV1418998single nucleotide variantNM_000787.4(DBH):c.47G>A (p.Arg16Gln)Orthostatic hypotension 1 [RCV001906961]uncertain significance9133636418133636418Human1name , alternate_id
151760174CV1504048single nucleotide variantNM_000787.4(DBH):c.62T>C (p.Met21Thr)Orthostatic hypotension 1 [RCV002007764]uncertain significance9133636433133636433Human1name , alternate_id
152110570CV1519542single nucleotide variantNM_000787.4(DBH):c.927T>C (p.Phe309=)Orthostatic hypotension 1 [RCV002152998]likely benign9133644223133644223Human1name , alternate_id
152091263CV1528695single nucleotide variantNM_000787.4(DBH):c.663C>T (p.Ile221=)Orthostatic hypotension 1 [RCV002094211]likely benign9133642383133642383Human1name , alternate_id
152174440CV1567109single nucleotide variantNM_000787.4(DBH):c.462C>T (p.Cys154=)Orthostatic hypotension 1 [RCV002163159]likely benign9133639968133639968Human1name , alternate_id
152086630CV1573933single nucleotide variantNM_000787.4(DBH):c.489C>T (p.Asp163=)Orthostatic hypotension 1 [RCV002150019]likely benign9133642209133642209Human1name , alternate_id
152047487CV1580391single nucleotide variantNM_000787.4(DBH):c.825C>T (p.Ser275=)Orthostatic hypotension 1 [RCV002166443]likely benign9133643493133643493Human1name , alternate_id
152044872CV1584480single nucleotide variantNM_000787.4(DBH):c.585G>A (p.Val195=)Orthostatic hypotension 1 [RCV002071477]likely benign9133642305133642305Human1name , alternate_id
152163535CV1604861single nucleotide variantNM_000787.4(DBH):c.408G>A (p.Val136=)Orthostatic hypotension 1 [RCV002203845]likely benign9133639914133639914Human1name , alternate_id
152105402CV1622890single nucleotide variantNM_000787.4(DBH):c.528G>A (p.Pro176=)Orthostatic hypotension 1 [RCV002214737]likely benign9133642248133642248Human1name , alternate_id
152039847CV1644016single nucleotide variantNM_000787.4(DBH):c.300C>T (p.Leu100=)Orthostatic hypotension 1 [RCV002125925]likely benign9133636671133636671Human1name , alternate_id
156386327CV1894069single nucleotide variantNM_000787.4(DBH):c.630C>T (p.Asp210=)Orthostatic hypotension 1 [RCV003093717]likely benign9133642350133642350Human1name , alternate_id
156408305CV1911554single nucleotide variantNM_000787.4(DBH):c.726T>C (p.Ser242=)Orthostatic hypotension 1 [RCV002607187]likely benign9133642446133642446Human1name , alternate_id
156416990CV1919182single nucleotide variantNM_000787.4(DBH):c.609C>T (p.Pro203=)Orthostatic hypotension 1 [RCV002610469]likely benign9133642329133642329Human1name , alternate_id
156381299CV1928414duplicationNM_000787.4(DBH):c.1191+24_1191+28dupOrthostatic hypotension 1 [RCV002634292]likely benign9133648031133648032Human1name , alternate_id
156438971CV1943828single nucleotide variantNM_000787.4(DBH):c.813C>T (p.Pro271=)Orthostatic hypotension 1 [RCV003108922]likely benign9133643481133643481Human1name , alternate_id
155928691CV2041645single nucleotide variantNM_000787.4(DBH):c.468C>T (p.Pro156=)Orthostatic hypotension 1 [RCV002751049]likely benign9133639974133639974Human1name , alternate_id
156201343CV2110062single nucleotide variantNM_000787.4(DBH):c.846C>T (p.Pro282=)Orthostatic hypotension 1 [RCV002957390]likely benign9133643514133643514Human1name , alternate_id
156001026CV2122865single nucleotide variantNM_000787.4(DBH):c.573G>A (p.Gly191=)Orthostatic hypotension 1 [RCV002975179]likely benign9133642293133642293Human1name , alternate_id
155948935CV2132949single nucleotide variantNM_000787.4(DBH):c.981T>C (p.Tyr327=)Orthostatic hypotension 1 [RCV002994514]likely benign9133644277133644277Human1name , alternate_id
156044685CV2143634single nucleotide variantNM_000787.4(DBH):c.342C>T (p.Asp114=)Orthostatic hypotension 1 [RCV002999663]likely benign9133639848133639848Human1name , alternate_id
10448399CV214410single nucleotide variantNM_000787.4(DBH):c.486A>G (p.Glu162=)Orthostatic hypotension 1 [RCV000201821]|not provided [RCV001682914]|not specified [RCV001529259]benign9133639992133639992Human2name , alternate_id
10448399CV214410single nucleotide variantNM_000787.4(DBH):c.486A>G (p.Glu162=)Orthostatic hypotension 1 [RCV000201821]|not provided [RCV001682914]|not specified [RCV001529259]benign9133639992133639993Human2name , alternate_id
405113539CV2882883microsatelliteNM_000787.4(DBH):c.1024+25_1024+27delOrthostatic hypotension 1 [RCV003499730]likely benign9133644340133644342Humanname , alternate_id
405107413CV2921090single nucleotide variantNM_000787.4(DBH):c.429G>C (p.Leu143=)Orthostatic hypotension 1 [RCV003498550]likely benign9133639935133639935Human1name , alternate_id
405022419CV3056174single nucleotide variantNM_000787.4(DBH):c.615G>A (p.Pro205=)Orthostatic hypotension 1 [RCV003601008]likely benign9133642335133642335Human1name , alternate_id
11608679CV307402single nucleotide variantNM_000787.4(DBH):c.735C>T (p.His245=)Orthostatic hypotension 1 [RCV000358218]|not provided [RCV004718601]benign|likely benign9133642455133642455Human1name , alternate_id
11660739CV307406single nucleotide variantNM_000787.4(DBH):c.852C>T (p.Asp284=)Orthostatic hypotension 1 [RCV000369952]uncertain significance9133643520133643520Human1name , alternate_id
11606062CV311665single nucleotide variantNM_000787.4(DBH):c.849C>T (p.Cys283=)Orthostatic hypotension 1 [RCV000326872]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133643517133643517Human1name , alternate_id
11644824CV311694insertionNM_000787.4(DBH):c.*389_*390insACCCCCOrthostatic hypotension 1 [RCV000262108]uncertain significance9133658835133658836Human1name , alternate_id
405179884CV3147410single nucleotide variantNM_000787.4(DBH):c.532C>A (p.Arg178=)Orthostatic hypotension 1 [RCV003842312]likely benign9133642252133642252Human1name , alternate_id
405218797CV3161347single nucleotide variantNM_000787.4(DBH):c.62T>G (p.Met21Arg)Orthostatic hypotension 1 [RCV003863216]uncertain significance9133636433133636433Human1name , alternate_id
402472259CV3171626single nucleotide variantNM_000787.4(DBH):c.633G>A (p.Ala211=)Orthostatic hypotension 1 [RCV003874410]likely benign9133642353133642353Human1name , alternate_id
11606601CV317186single nucleotide variantNM_000787.4(DBH):c.363G>A (p.Gly121=)Orthostatic hypotension 1 [RCV000333589]uncertain significance9133639869133639869Human1name , alternate_id
11599894CV317198single nucleotide variantNM_000787.4(DBH):c.807C>T (p.Cys269=)DBH-related disorder [RCV003912569]|Orthostatic hypotension 1 [RCV000269423]|not provided [RCV005243218]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133643475133643475Human1name , trait , alternate_id
11604439CV317592single nucleotide variantNM_000787.4(DBH):c.747C>T (p.Tyr249=)Orthostatic hypotension 1 [RCV000309245]|not provided [RCV003430962]benign|likely benign9133643415133643415Human1name , alternate_id
402487939CV3181853single nucleotide variantNM_000787.4(DBH):c.777C>A (p.Ala259=)Orthostatic hypotension 1 [RCV003876522]likely benign9133643445133643445Human1name , alternate_id
597905942CV3804004single nucleotide variantNM_000787.4(DBH):c.450C>A (p.Pro150=)Orthostatic hypotension 1 [RCV005153550]likely benign9133639956133639956Human1name , alternate_id
597962533CV3841013deletionNM_000787.4(DBH):c.1562+16_1562+28delOrthostatic hypotension 1 [RCV005193306]likely benign9133656657133656669Human1name , alternate_id
597905835CV3853184single nucleotide variantNM_000787.4(DBH):c.333T>C (p.Tyr111=)Orthostatic hypotension 1 [RCV005202841]likely benign9133636704133636704Human1name , alternate_id
15109032CV711829single nucleotide variantNM_000787.4(DBH):c.76G>A (p.Val26Met)Orthostatic hypotension 1 [RCV000960610]|not provided [RCV003883513]benign9133636447133636447Human1name , alternate_id
15182852CV711830single nucleotide variantNM_000787.4(DBH):c.315C>T (p.Thr105=)Orthostatic hypotension 1 [RCV001520101]|not provided [RCV004718804]benign9133636686133636686Human1name , alternate_id
15182934CV711831single nucleotide variantNM_000787.4(DBH):c.933C>T (p.Tyr311=)DBH-related disorder [RCV004757358]|Orthostatic hypotension 1 [RCV000974756]|not provided [RCV004597940]benign|likely benign9133644229133644229Human1name , trait , alternate_id
15186449CV723422single nucleotide variantNM_000787.4(DBH):c.354C>T (p.Asp118=)Orthostatic hypotension 1 [RCV000886979]likely benign|conflicting interpretations of pathogenicity9133639860133639860Human1name , alternate_id
15172673CV723423single nucleotide variantNM_000787.4(DBH):c.381C>T (p.Pro127=)Orthostatic hypotension 1 [RCV001411724]likely benign9133639887133639887Human1name , alternate_id
15165177CV723424single nucleotide variantNM_000787.4(DBH):c.552C>T (p.Asn184=)Orthostatic hypotension 1 [RCV000882356]benign9133642272133642272Human1name , alternate_id
15165611CV723425single nucleotide variantNM_000787.4(DBH):c.624C>T (p.Pro208=)DBH-related disorder [RCV003975549]|Orthostatic hypotension 1 [RCV001167014]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133642344133642344Human1name , trait , alternate_id
15163337CV751523single nucleotide variantNM_000787.4(DBH):c.945C>T (p.Ala315=)Orthostatic hypotension 1 [RCV001469316]likely benign9133644241133644241Human1name , alternate_id
28885072CV901440single nucleotide variantNM_000787.4(DBH):c.61A>G (p.Met21Val)Orthostatic hypotension 1 [RCV001168666]uncertain significance9133636432133636432Human1name , alternate_id
28877592CV901443single nucleotide variantNM_000787.4(DBH):c.450C>T (p.Pro150=)Orthostatic hypotension 1 [RCV001166488]uncertain significance9133639956133639956Human1name , alternate_id
127243750CV1076176single nucleotide variantNM_000787.4(DBH):c.209A>G (p.Glu70Gly)Orthostatic hypotension 1 [RCV001393584]likely benign9133636580133636580Human1name , alternate_id
127278177CV1097856single nucleotide variantNM_000787.4(DBH):c.1116G>A (p.Thr372=)DBH-related disorder [RCV003900529]|Orthostatic hypotension 1 [RCV001444875]likely benign9133647937133647937Human1name , trait , alternate_id
127314135CV1140267single nucleotide variantNM_000787.4(DBH):c.1602C>T (p.Ser534=)Orthostatic hypotension 1 [RCV001482151]likely benign9133657109133657109Human1name , alternate_id
151814078CV1366526single nucleotide variantNM_000787.4(DBH):c.1374G>A (p.Pro458=)Orthostatic hypotension 1 [RCV001933491]uncertain significance9133652284133652284Human1name , alternate_id
151727715CV1412819single nucleotide variantNM_000787.4(DBH):c.106G>A (p.Ala36Thr)Orthostatic hypotension 1 [RCV001945728]uncertain significance9133636477133636477Human1name , alternate_id
151844374CV1415477single nucleotide variantNM_000787.4(DBH):c.271G>A (p.Asp91Asn)Inborn genetic diseases [RCV002560456]|Orthostatic hypotension 1 [RCV001957144]uncertain significance9133636642133636642Human2name , alternate_id
151757483CV1459764single nucleotide variantNM_000787.4(DBH):c.274C>T (p.Arg92Cys)Inborn genetic diseases [RCV003264378]|Orthostatic hypotension 1 [RCV001986898]uncertain significance9133636645133636645Human2name , alternate_id
151779878CV1497051single nucleotide variantNM_000787.4(DBH):c.245A>G (p.Lys82Arg)Orthostatic hypotension 1 [RCV001930335]uncertain significance9133636616133636616Human1name , alternate_id
151872719CV1513501single nucleotide variantNM_000787.4(DBH):c.1086G>A (p.Ala362=)Orthostatic hypotension 1 [RCV001940024]likely benign|uncertain significance9133647907133647907Human1name , alternate_id
152141434CV1520666single nucleotide variantNM_000787.4(DBH):c.1671C>T (p.Ser557=)DBH-related disorder [RCV003950914]|Orthostatic hypotension 1 [RCV002178110]likely benign9133657178133657178Human1name , trait , alternate_id
152082510CV1548463single nucleotide variantNM_000787.4(DBH):c.1524C>T (p.Asp508=)Orthostatic hypotension 1 [RCV002076559]|not provided [RCV004706372]likely benign9133656612133656612Human1name , alternate_id
152116140CV1554118single nucleotide variantNM_000787.4(DBH):c.1765C>T (p.Leu589=)Orthostatic hypotension 1 [RCV002117216]likely benign9133658358133658358Human1name , alternate_id
152061655CV1585325single nucleotide variantNM_000787.4(DBH):c.1152C>T (p.Phe384=)Orthostatic hypotension 1 [RCV002073749]likely benign9133647973133647973Human1name , alternate_id
152062762CV1612501single nucleotide variantNM_000787.4(DBH):c.1701G>A (p.Lys567=)Orthostatic hypotension 1 [RCV002168208]likely benign9133657208133657208Human1name , alternate_id
152043702CV1624436single nucleotide variantNM_000787.4(DBH):c.1662C>T (p.Ala554=)Orthostatic hypotension 1 [RCV002126415]likely benign9133657169133657169Human1name , alternate_id
152097034CV1636511single nucleotide variantNM_000787.4(DBH):c.1032C>T (p.Asn344=)Orthostatic hypotension 1 [RCV002132769]likely benign9133647853133647853Human1name , alternate_id
152115471CV1641154single nucleotide variantNM_000787.4(DBH):c.1527C>T (p.Ala509=)Orthostatic hypotension 1 [RCV002117125]|not provided [RCV004706338]likely benign9133656615133656615Human1name , alternate_id
152049080CV1656983single nucleotide variantNM_000787.4(DBH):c.1227T>A (p.Ser409=)Orthostatic hypotension 1 [RCV002189174]likely benign9133651669133651669Human1name , alternate_id
152068674CV1662326single nucleotide variantNM_000787.4(DBH):c.1494G>A (p.Thr498=)Orthostatic hypotension 1 [RCV002111149]likely benign9133656582133656582Human1name , alternate_id
156219751CV1879174single nucleotide variantNM_000787.4(DBH):c.236G>A (p.Arg79Gln)Inborn genetic diseases [RCV003060538]|Orthostatic hypotension 1 [RCV003058882]uncertain significance9133636607133636607Human2name , alternate_id
156371491CV1901402single nucleotide variantNM_000787.4(DBH):c.1278G>A (p.Arg426=)Orthostatic hypotension 1 [RCV002582447]likely benign9133651720133651720Human1name , alternate_id
156372394CV1953246single nucleotide variantNM_000787.4(DBH):c.1083C>T (p.Asn361=)Orthostatic hypotension 1 [RCV002582529]likely benign9133647904133647904Human1name , alternate_id
156352329CV1985729single nucleotide variantNM_000787.4(DBH):c.1515C>T (p.Ser505=)Orthostatic hypotension 1 [RCV002632068]likely benign9133656603133656603Human1name , alternate_id
156287232CV2001797single nucleotide variantNM_000787.4(DBH):c.1662C>A (p.Ala554=)Orthostatic hypotension 1 [RCV002647054]likely benign9133657169133657169Human1name , alternate_id
156119627CV2004092single nucleotide variantNM_000787.4(DBH):c.224A>C (p.Gln75Pro)Orthostatic hypotension 1 [RCV002662805]uncertain significance9133636595133636595Human1name , alternate_id
156079148CV2022565single nucleotide variantNM_000787.4(DBH):c.1023A>G (p.Glu341=)Orthostatic hypotension 1 [RCV002760566]uncertain significance9133644319133644319Human1name , alternate_id
156310595CV2031524single nucleotide variantNM_000787.4(DBH):c.1476G>A (p.Val492=)Orthostatic hypotension 1 [RCV002716511]likely benign9133656564133656564Human1name , alternate_id
156334857CV2057711single nucleotide variantNM_000787.4(DBH):c.217C>T (p.His73Tyr)Orthostatic hypotension 1 [RCV002810882]uncertain significance9133636588133636588Human1name , alternate_id
156305776CV2105245single nucleotide variantNM_000787.4(DBH):c.1473C>T (p.Tyr491=)DBH-related disorder [RCV003973546]|Orthostatic hypotension 1 [RCV002922811]likely benign|uncertain significance9133656561133656561Human1name , trait , alternate_id
156032583CV2116248single nucleotide variantNM_000787.4(DBH):c.1443C>T (p.Phe481=)Orthostatic hypotension 1 [RCV002910132]likely benign9133656531133656531Human1name , alternate_id
156150014CV2124791single nucleotide variantNM_000787.4(DBH):c.1677G>A (p.Ala559=)Orthostatic hypotension 1 [RCV002928869]|not provided [RCV003434535]likely benign9133657184133657184Human1name , alternate_id
10448400CV214411deletionNM_000787.4(DBH):c.617del (p.Glu206fs)Orthostatic hypotension 1 [RCV000201827]pathogenic|not provided9133642337133642337Human1name , alternate_id
156073471CV2229985single nucleotide variantNM_000787.4(DBH):c.146A>T (p.Tyr49Phe)Inborn genetic diseases [RCV002737497]uncertain significance9133636517133636517Human1name
156353570CV2327558single nucleotide variantNM_000787.4(DBH):c.290A>G (p.Asn97Ser)Inborn genetic diseases [RCV002940252]uncertain significance9133636661133636661Human1name
405105979CV2865747single nucleotide variantNM_000787.4(DBH):c.1149C>A (p.Ala383=)Orthostatic hypotension 1 [RCV003498240]likely benign9133647970133647970Human1name , alternate_id
405107840CV2911453deletionNM_000787.4(DBH):c.945del (p.Gly316fs)Orthostatic hypotension 1 [RCV003498638]pathogenic9133644240133644240Human1name , alternate_id
405017376CV2947064single nucleotide variantNM_000787.4(DBH):c.1758C>T (p.Ile586=)Orthostatic hypotension 1 [RCV003600526]likely benign9133658351133658351Human1name , alternate_id
405027346CV2971375single nucleotide variantNM_000787.4(DBH):c.1485C>T (p.Tyr495=)Orthostatic hypotension 1 [RCV003601467]likely benign9133656573133656573Human1name , alternate_id
405015324CV3036519single nucleotide variantNM_000787.4(DBH):c.1242C>T (p.His414=)Orthostatic hypotension 1 [RCV003600249]likely benign9133651684133651684Human1name , alternate_id
405022701CV3052759single nucleotide variantNM_000787.4(DBH):c.1794C>T (p.Thr598=)Orthostatic hypotension 1 [RCV003601033]likely benign9133658387133658387Human1name , alternate_id
405022846CV3057065single nucleotide variantNM_000787.4(DBH):c.1773G>A (p.Glu591=)Orthostatic hypotension 1 [RCV003601048]likely benign9133658366133658366Human1name , alternate_id
11601864CV307410single nucleotide variantNM_000787.4(DBH):c.1173G>A (p.Thr391=)Orthostatic hypotension 1 [RCV000286186]conflicting interpretations of pathogenicity|uncertain significance9133647994133647994Human1name , alternate_id
11608307CV307417single nucleotide variantNM_000787.4(DBH):c.1572C>T (p.Asn524=)Orthostatic hypotension 1 [RCV000353567]|not provided [RCV004705483]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance9133657079133657079Human1name , alternate_id
11599319CV307422single nucleotide variantNM_000787.4(DBH):c.1734C>T (p.Asn578=)DBH-related disorder [RCV003922643]|Orthostatic hypotension 1 [RCV000264816]|not provided [RCV004718603]benign|conflicting interpretations of pathogenicity|uncertain significance9133658327133658327Human1name , trait , alternate_id
405027156CV3075683single nucleotide variantNM_000787.4(DBH):c.1260G>A (p.Val420=)Orthostatic hypotension 1 [RCV003601337]likely benign9133651702133651702Human1name , alternate_id
405032890CV3076708single nucleotide variantNM_000787.4(DBH):c.1419G>A (p.Arg473=)Orthostatic hypotension 1 [RCV003601924]likely benign9133652984133652984Human1name , alternate_id
405033644CV3077411single nucleotide variantNM_000787.4(DBH):c.1116G>T (p.Thr372=)Orthostatic hypotension 1 [RCV003601989]likely benign9133647937133647937Human1name , alternate_id
11609140CV317163single nucleotide variantNM_000787.4(DBH):c.235C>T (p.Arg79Trp)Orthostatic hypotension 1 [RCV000364592]|not provided [RCV004584697]benign|likely benign9133636606133636606Human7name , alternate_id
11609140CV317163single nucleotide variantNM_000787.4(DBH):c.235C>T (p.Arg79Trp)Orthostatic hypotension 1 [RCV000364592]|not provided [RCV004584697]benign|likely benign9133636606133636607Human7name , alternate_id
11600233CV317176single nucleotide variantNM_000787.4(DBH):c.253G>A (p.Val85Ile)Inborn genetic diseases [RCV002523753]|Orthostatic hypotension 1 [RCV000272253]uncertain significance9133636624133636624Human2name , alternate_id
11605875CV317181single nucleotide variantNM_000787.4(DBH):c.259T>C (p.Phe87Leu)Orthostatic hypotension 1 [RCV000325038]uncertain significance9133636630133636630Human1name , alternate_id
11612015CV317218single nucleotide variantNM_000787.4(DBH):c.1410A>G (p.Thr470=)Orthostatic hypotension 1 [RCV000402576]|not provided [RCV001537445]benign9133652975133652975Human1name , alternate_id
11609655CV317224single nucleotide variantNM_000787.4(DBH):c.1557C>T (p.Ile519=)Orthostatic hypotension 1 [RCV000370913]uncertain significance9133656645133656645Human1name , alternate_id
402467344CV3174069single nucleotide variantNM_000787.4(DBH):c.1059C>T (p.Tyr353=)Orthostatic hypotension 1 [RCV003873352]likely benign9133647880133647880Human1name , alternate_id
11610444CV317586single nucleotide variantNM_000787.4(DBH):c.263G>C (p.Gly88Ala)DBH-related disorder [RCV003912568]|Orthostatic hypotension 1 [RCV000381846]|not provided [RCV003422372]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance9133636634133636634Human9name , trait , alternate_id
11610444CV317586single nucleotide variantNM_000787.4(DBH):c.263G>C (p.Gly88Ala)DBH-related disorder [RCV003912568]|Orthostatic hypotension 1 [RCV000381846]|not provided [RCV003422372]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance9133636634133636635Human9name , trait , alternate_id
11599161CV317609single nucleotide variantNM_000787.4(DBH):c.1599G>A (p.Ala533=)DBH-related disorder [RCV003972543]|Orthostatic hypotension 1 [RCV000263473]|not provided [RCV003884514]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133657106133657106Human1name , trait , alternate_id
11605801CV317620single nucleotide variantNM_000787.4(DBH):c.1788C>T (p.Cys596=)Orthostatic hypotension 1 [RCV000324031]conflicting interpretations of pathogenicity|uncertain significance9133658381133658381Human1name , alternate_id
402508116CV3182011single nucleotide variantNM_000787.4(DBH):c.1665G>A (p.Leu555=)Orthostatic hypotension 1 [RCV003878664]likely benign9133657172133657172Human1name , alternate_id
407453103CV3430166single nucleotide variantNM_000787.4(DBH):c.257T>A (p.Leu86Gln)Inborn genetic diseases [RCV004608834]uncertain significance9133636628133636628Human1name
597673082CV3651807single nucleotide variantNM_000787.4(DBH):c.221T>A (p.Phe74Tyr)Inborn genetic diseases [RCV004981592]uncertain significance9133636592133636592Human1name
597881935CV3744972single nucleotide variantNM_000787.4(DBH):c.1794C>G (p.Thr598=)Orthostatic hypotension 1 [RCV005069997]likely benign9133658387133658387Human1name , alternate_id
597886640CV3800140single nucleotide variantNM_000787.4(DBH):c.1614G>A (p.Gln538=)Orthostatic hypotension 1 [RCV005150620]likely benign9133657121133657121Human1name , alternate_id
597888469CV3804680single nucleotide variantNM_000787.4(DBH):c.1164C>T (p.Gly388=)Orthostatic hypotension 1 [RCV005150942]likely benign9133647985133647985Human1name , alternate_id
597971108CV3832749single nucleotide variantNM_000787.4(DBH):c.1359C>G (p.Val453=)Orthostatic hypotension 1 [RCV005166828]likely benign9133652269133652269Human1name , alternate_id
597930833CV3837623single nucleotide variantNM_000787.4(DBH):c.1647C>T (p.Arg549=)Orthostatic hypotension 1 [RCV005185783]likely benign9133657154133657154Human1name , alternate_id
597890673CV3839778single nucleotide variantNM_000787.4(DBH):c.1710C>T (p.Ala570=)Orthostatic hypotension 1 [RCV005179670]likely benign9133657217133657217Human1name , alternate_id
598251921CV3963464single nucleotide variantNM_000787.4(DBH):c.280G>A (p.Glu94Lys)Inborn genetic diseases [RCV005323153]uncertain significance9133636651133636651Human1name
13618884CV524255single nucleotide variantNM_000787.4(DBH):c.1434G>A (p.Val478=)DBH-related disorder [RCV003965328]|Orthostatic hypotension 1 [RCV000635251]likely benign|uncertain significance9133652999133652999Human1name , trait , alternate_id
13805225CV563697single nucleotide variantNM_000787.4(DBH):c.146A>G (p.Tyr49Cys)Orthostatic hypotension 1 [RCV000685606]uncertain significance9133636517133636517Human1name , alternate_id
15202969CV700876single nucleotide variantNM_000787.4(DBH):c.1266A>G (p.Thr422=)Orthostatic hypotension 1 [RCV000958138]likely benign9133651708133651708Human1name , alternate_id
15152880CV711832single nucleotide variantNM_000787.4(DBH):c.1206C>T (p.Ser402=)Orthostatic hypotension 1 [RCV000968439]benign9133651648133651648Human1name , alternate_id
15141953CV711833single nucleotide variantNM_000787.4(DBH):c.1215C>T (p.His405=)DBH-related disorder [RCV004757349]|Orthostatic hypotension 1 [RCV000966395]likely benign|conflicting interpretations of pathogenicity9133651657133651657Human1name , trait , alternate_id
15179706CV711834single nucleotide variantNM_000787.4(DBH):c.1299C>T (p.Ile433=)Orthostatic hypotension 1 [RCV002066445]likely benign9133651741133651741Human1name , alternate_id
15182856CV711835single nucleotide variantNM_000787.4(DBH):c.1539G>A (p.Gln513=)Orthostatic hypotension 1 [RCV000974738]benign9133656627133656627Human1name , alternate_id
15179088CV711836single nucleotide variantNM_000787.4(DBH):c.1824C>T (p.Thr608=)Orthostatic hypotension 1 [RCV002548376]likely benign9133658417133658417Human1name , alternate_id
15189587CV723426single nucleotide variantNM_000787.4(DBH):c.1735C>T (p.Leu579=)DBH-related disorder [RCV003955939]|Orthostatic hypotension 1 [RCV000887862]benign|likely benign9133658328133658328Human1name , trait , alternate_id
15155543CV736987single nucleotide variantNM_000787.4(DBH):c.1146C>T (p.Thr382=)Orthostatic hypotension 1 [RCV000902160]likely benign9133647967133647967Human1name , alternate_id
15143374CV736988single nucleotide variantNM_000787.4(DBH):c.1401G>A (p.Thr467=)Orthostatic hypotension 1 [RCV002065683]likely benign9133652966133652966Human1name , alternate_id
15155397CV751524single nucleotide variantNM_000787.4(DBH):c.1221C>T (p.Phe407=)Orthostatic hypotension 1 [RCV001167648]benign|likely benign9133651663133651663Human1name , alternate_id
15107962CV767238single nucleotide variantNM_000787.4(DBH):c.1038C>T (p.Ser346=)Orthostatic hypotension 1 [RCV000938064]likely benign9133647859133647859Human1name , alternate_id
15171785CV767239single nucleotide variantNM_000787.4(DBH):c.1656G>A (p.Leu552=)not provided [RCV000927974]likely benign9133657163133657163Humanname
15201310CV767240single nucleotide variantNM_000787.4(DBH):c.1791C>T (p.Pro597=)not provided [RCV000935627]likely benign9133658384133658384Humanname
26902120CV835738duplicationNM_000787.4(DBH):c.468dup (p.Lys157fs)Orthostatic hypotension 1 [RCV001050113]pathogenic9133639970133639971Human1name , alternate_id
28887729CV901441single nucleotide variantNM_000787.4(DBH):c.128G>A (p.Arg43His)Inborn genetic diseases [RCV004032913]|Orthostatic hypotension 1 [RCV001169428]uncertain significance9133636499133636499Human2name , alternate_id
28887733CV901442single nucleotide variantNM_000787.4(DBH):c.153C>G (p.Ile51Met)Orthostatic hypotension 1 [RCV001169429]uncertain significance9133636524133636524Human1name , alternate_id
28879541CV901450single nucleotide variantNM_000787.4(DBH):c.1128C>A (p.Ala376=)Orthostatic hypotension 1 [RCV001167069]uncertain significance9133647949133647949Human1name , alternate_id
28879548CV901452single nucleotide variantNM_000787.4(DBH):c.1155C>T (p.Ile385=)Orthostatic hypotension 1 [RCV001167071]uncertain significance9133647976133647976Human1name , alternate_id
28881508CV901455single nucleotide variantNM_000787.4(DBH):c.1365G>A (p.Ser455=)Orthostatic hypotension 1 [RCV001167651]conflicting interpretations of pathogenicity|uncertain significance9133652275133652275Human1name , alternate_id
126762705CV993267single nucleotide variantNM_000787.4(DBH):c.275G>A (p.Arg92His)Orthostatic hypotension 1 [RCV001309967]uncertain significance9133636646133636646Human1name , alternate_id
126740313CV1017151single nucleotide variantNM_000787.4(DBH):c.715A>T (p.Lys239Ter)Orthostatic hypotension 1 [RCV002785699]pathogenic9133642435133642435Human1name , alternate_id
126914327CV1046003single nucleotide variantNM_000787.4(DBH):c.788A>G (p.His263Arg)Orthostatic hypotension 1 [RCV001370432]uncertain significance9133643456133643456Human1name , alternate_id
150461972CV1234847duplicationNM_000787.4(DBH):c.1722+207_1722+209dupnot provided [RCV001649429]benign9133657435133657436Humanname
150460671CV1253140microsatelliteNM_000787.4(DBH):c.1722+180GAGAGAGGA[4]not provided [RCV001669469]benign9133657409133657417Humanname
151845398CV1346035single nucleotide variantNM_000787.4(DBH):c.316G>A (p.Asp106Asn)Orthostatic hypotension 1 [RCV001936638]uncertain significance9133636687133636687Human1name , alternate_id
151760638CV1358018single nucleotide variantNM_000787.4(DBH):c.823A>G (p.Ser275Gly)Orthostatic hypotension 1 [RCV001928468]uncertain significance9133643491133643491Human1name , alternate_id
151826686CV1359713single nucleotide variantNM_000787.4(DBH):c.826G>A (p.Val276Ile)Orthostatic hypotension 1 [RCV002050316]uncertain significance9133643494133643494Human1name , alternate_id
151736973CV1361862single nucleotide variantNM_000787.4(DBH):c.686C>T (p.Thr229Met)Orthostatic hypotension 1 [RCV001967736]uncertain significance9133642406133642406Human1name , alternate_id
151849439CV1368362single nucleotide variantNM_000787.4(DBH):c.418C>T (p.Pro140Ser)Orthostatic hypotension 1 [RCV001978724]uncertain significance9133639924133639924Human1name , alternate_id
151769056CV1383581single nucleotide variantNM_000787.4(DBH):c.299T>C (p.Leu100Pro)Orthostatic hypotension 1 [RCV001874265]uncertain significance9133636670133636670Human1name , alternate_id
151715327CV1407890single nucleotide variantNM_000787.4(DBH):c.757G>A (p.Val253Ile)Inborn genetic diseases [RCV002552271]|Orthostatic hypotension 1 [RCV001890222]likely benign|uncertain significance9133643425133643425Human2name , alternate_id
151821870CV1449717single nucleotide variantNM_000787.4(DBH):c.728G>A (p.Arg243Gln)Inborn genetic diseases [RCV002545503]|Orthostatic hypotension 1 [RCV002013465]uncertain significance9133642448133642448Human2name , alternate_id
151790823CV1475442single nucleotide variantNM_000787.4(DBH):c.638C>T (p.Thr213Ile)Orthostatic hypotension 1 [RCV001973035]uncertain significance9133642358133642358Human1name , alternate_id
151888296CV1512604single nucleotide variantNM_000787.4(DBH):c.614C>T (p.Pro205Leu)Orthostatic hypotension 1 [RCV001887930]uncertain significance9133642334133642334Human1name , alternate_id
8556427CV16790single nucleotide variantNM_000787.4(DBH):c.342C>A (p.Asp114Glu)Orthostatic hypotension 1 [RCV000001821]pathogenic|uncertain significance9133639848133639848Human1name , alternate_id
10448419CV16791single nucleotide variantNM_000787.4(DBH):c.301G>A (p.Val101Met)Orthostatic hypotension 1 [RCV000201816]pathogenic|uncertain significance|not provided9133636672133636672Human1name , alternate_id
156358981CV1873942single nucleotide variantNM_000787.4(DBH):c.337G>T (p.Ala113Ser)Inborn genetic diseases [RCV003065472]|Orthostatic hypotension 1 [RCV003071614]uncertain significance9133636708133636708Human2name , alternate_id
156078772CV1908801single nucleotide variantNM_000787.4(DBH):c.814G>A (p.Glu272Lys)Orthostatic hypotension 1 [RCV002591506]uncertain significance9133643482133643482Human1name , alternate_id
155944289CV1911175single nucleotide variantNM_000787.4(DBH):c.470A>C (p.Lys157Thr)Orthostatic hypotension 1 [RCV002615838]uncertain significance9133639976133639976Human1name , alternate_id
156292491CV1926585single nucleotide variantNM_000787.4(DBH):c.326C>T (p.Thr109Ile)Orthostatic hypotension 1 [RCV002628872]uncertain significance9133636697133636697Human1name , alternate_id
156055617CV1974554single nucleotide variantNM_000787.4(DBH):c.792G>T (p.Met264Ile)Orthostatic hypotension 1 [RCV002590803]uncertain significance9133643460133643460Human1name , alternate_id
156207817CV2040358single nucleotide variantNM_000787.4(DBH):c.610G>A (p.Glu204Lys)Orthostatic hypotension 1 [RCV002790124]uncertain significance9133642330133642330Human1name , alternate_id
156004994CV2045944single nucleotide variantNM_000787.4(DBH):c.659A>G (p.Asn220Ser)Orthostatic hypotension 1 [RCV002794806]uncertain significance9133642379133642379Human1name , alternate_id
156326283CV2054150single nucleotide variantNM_000787.4(DBH):c.491G>A (p.Gly164Asp)Orthostatic hypotension 1 [RCV002810412]uncertain significance9133642211133642211Human1name , alternate_id
155971047CV2062473single nucleotide variantNM_000787.4(DBH):c.520G>A (p.Glu174Lys)Orthostatic hypotension 1 [RCV002842079]uncertain significance9133642240133642240Human1name , alternate_id
155991728CV2066843single nucleotide variantNM_000787.4(DBH):c.593T>A (p.Leu198Gln)Orthostatic hypotension 1 [RCV002842987]uncertain significance9133642313133642313Human1name , alternate_id
155985520CV2094833single nucleotide variantNM_000787.4(DBH):c.511G>A (p.Gly171Arg)Orthostatic hypotension 1 [RCV002907902]uncertain significance9133642231133642231Human1name , alternate_id
156308874CV2109373single nucleotide variantNM_000787.4(DBH):c.338C>T (p.Ala113Val)Orthostatic hypotension 1 [RCV002922959]uncertain significance9133636709133636709Human1name , alternate_id
156252154CV2117019single nucleotide variantNM_000787.4(DBH):c.887G>A (p.Arg296His)Orthostatic hypotension 1 [RCV002933589]uncertain significance9133643555133643555Human1name , alternate_id
156322634CV2134258single nucleotide variantNM_000787.4(DBH):c.532C>T (p.Arg178Trp)Orthostatic hypotension 1 [RCV002963315]uncertain significance9133642252133642252Human1name , alternate_id
156165017CV2137070single nucleotide variantNM_000787.4(DBH):c.808G>A (p.Ala270Thr)Orthostatic hypotension 1 [RCV003005206]uncertain significance9133643476133643476Human1name , alternate_id
156317845CV2137842single nucleotide variantNM_000787.4(DBH):c.638C>G (p.Thr213Ser)Orthostatic hypotension 1 [RCV002963009]uncertain significance9133642358133642358Human1name , alternate_id
155941556CV2142980single nucleotide variantNM_000787.4(DBH):c.343G>A (p.Ala115Thr)Orthostatic hypotension 1 [RCV002994087]uncertain significance9133639849133639849Human1name , alternate_id
10448403CV214412single nucleotide variantNM_000787.4(DBH):c.806G>T (p.Cys269Phe)Orthostatic hypotension 1 [RCV000201835]pathogenic|not provided9133643474133643474Human1name , alternate_id
156062903CV2162035single nucleotide variantNM_000787.4(DBH):c.575T>C (p.Leu192Pro)Orthostatic hypotension 1 [RCV003019794]uncertain significance9133642295133642295Human1name , alternate_id
156076398CV2173521single nucleotide variantNM_000787.4(DBH):c.671C>T (p.Pro224Leu)Orthostatic hypotension 1 [RCV003053879]uncertain significance9133642391133642391Human1name , alternate_id
156198736CV2187007single nucleotide variantNM_000787.4(DBH):c.923C>T (p.Ala308Val)Orthostatic hypotension 1 [RCV003058084]uncertain significance9133644219133644219Human1name , alternate_id
156074756CV2230086single nucleotide variantNM_000787.4(DBH):c.461G>A (p.Cys154Tyr)Inborn genetic diseases [RCV002737568]uncertain significance9133639967133639967Human1name
155969640CV2262137single nucleotide variantNM_000787.4(DBH):c.871C>T (p.Arg291Cys)Inborn genetic diseases [RCV002817586]uncertain significance9133643539133643539Human1name
156365513CV2272124single nucleotide variantNM_000787.4(DBH):c.772G>A (p.Glu258Lys)Inborn genetic diseases [RCV002813481]uncertain significance9133643440133643440Human1name
155915425CV2274174single nucleotide variantNM_000787.4(DBH):c.382C>T (p.Gln128Ter)Inborn genetic diseases [RCV002858883]pathogenic9133639888133639888Human1name
156080765CV2292729single nucleotide variantNM_000787.4(DBH):c.968G>A (p.Gly323Glu)Inborn genetic diseases [RCV002869244]uncertain significance9133644264133644264Human1name
329369912CV2424979single nucleotide variantNM_000787.4(DBH):c.553G>A (p.Gly185Ser)Inborn genetic diseases [RCV003184062]|Orthostatic hypotension 1 [RCV005101219]likely benign|uncertain significance9133642273133642273Human2name , alternate_id
401746965CV2692032single nucleotide variantNM_000787.4(DBH):c.986G>A (p.Arg329His)Inborn genetic diseases [RCV003275826]uncertain significance9133644282133644282Human1name
401751788CV2702905single nucleotide variantNM_000787.4(DBH):c.968G>T (p.Gly323Val)Inborn genetic diseases [RCV003277140]uncertain significance9133644264133644264Human1name
401758887CV2705222single nucleotide variantNM_000787.4(DBH):c.832C>T (p.His278Tyr)Inborn genetic diseases [RCV003256644]uncertain significance9133643500133643500Human1name
401890417CV2768196single nucleotide variantNM_000787.4(DBH):c.467C>T (p.Pro156Leu)Inborn genetic diseases [RCV003354414]uncertain significance9133639973133639973Human1name
405022894CV3067207deletionNM_000787.4(DBH):c.1499del (p.Leu500fs)Orthostatic hypotension 1 [RCV003601053]pathogenic|likely pathogenic9133656587133656587Human1name , alternate_id
11662393CV307374single nucleotide variantNM_000787.4(DBH):c.407T>C (p.Val136Ala)Inborn genetic diseases [RCV004022110]|Orthostatic hypotension 1 [RCV000385719]likely benign|uncertain significance9133639913133639913Human2name , alternate_id
11606815CV307377single nucleotide variantNM_000787.4(DBH):c.602A>G (p.Asn201Ser)Orthostatic hypotension 1 [RCV000335908]|not provided [RCV001540353]benign|likely benign9133642322133642322Human1name , alternate_id
11612117CV307401single nucleotide variantNM_000787.4(DBH):c.631G>A (p.Ala211Thr)DBH-related disorder [RCV003972540]|Orthostatic hypotension 1 [RCV000404226]|not provided [RCV001653752]benign|likely benign9133642351133642351Human1name , trait , alternate_id
405079874CV3137137single nucleotide variantNM_000787.4(DBH):c.583G>T (p.Val195Leu)Orthostatic hypotension 1 [RCV003834036]uncertain significance9133642303133642303Human1name , alternate_id
11601001CV317191single nucleotide variantNM_000787.4(DBH):c.533G>A (p.Arg178Gln)Orthostatic hypotension 1 [RCV000278551]|not provided [RCV004718600]benign|conflicting interpretations of pathogenicity|uncertain significance9133642253133642253Human1name , alternate_id
11609278CV317196single nucleotide variantNM_000787.4(DBH):c.776C>T (p.Ala259Val)Inborn genetic diseases [RCV004609373]|Orthostatic hypotension 1 [RCV000366382]uncertain significance9133643444133643444Human2name , alternate_id
11610891CV317200single nucleotide variantNM_000787.4(DBH):c.952G>T (p.Ala318Ser)DBH-related disorder [RCV003972541]|Orthostatic hypotension 1 [RCV000387809]|not provided [RCV001643107]benign|likely benign9133644248133644248Human1name , trait , alternate_id
11604028CV317591single nucleotide variantNM_000787.4(DBH):c.686C>A (p.Thr229Lys)Orthostatic hypotension 1 [RCV000305723]uncertain significance9133642406133642406Human1name , alternate_id
11600420CV317594single nucleotide variantNM_000787.4(DBH):c.868G>A (p.Asp290Asn)Orthostatic hypotension 1 [RCV000273597]|not provided [RCV001706608]benign|likely benign9133643536133643536Human1name , alternate_id
405689362CV3246425single nucleotide variantNM_000787.4(DBH):c.527C>T (p.Pro176Leu)Inborn genetic diseases [RCV004372995]uncertain significance9133642247133642247Human1name
405689366CV3246426single nucleotide variantNM_000787.4(DBH):c.630C>A (p.Asp210Glu)Inborn genetic diseases [RCV004372996]uncertain significance9133642350133642350Human1name
405689371CV3246427single nucleotide variantNM_000787.4(DBH):c.871C>A (p.Arg291Ser)Inborn genetic diseases [RCV004372997]uncertain significance9133643539133643539Human1name
597673061CV3651802single nucleotide variantNM_000787.4(DBH):c.404A>G (p.Gln135Arg)Inborn genetic diseases [RCV004981588]likely benign9133639910133639910Human1name
597673073CV3651805single nucleotide variantNM_000787.4(DBH):c.790A>C (p.Met264Leu)Inborn genetic diseases [RCV004981590]uncertain significance9133643458133643458Human1name
597673078CV3651806single nucleotide variantNM_000787.4(DBH):c.317A>C (p.Asp106Ala)Inborn genetic diseases [RCV004981591]uncertain significance9133636688133636688Human1name
597673095CV3651809single nucleotide variantNM_000787.4(DBH):c.927T>A (p.Phe309Leu)Inborn genetic diseases [RCV004981594]uncertain significance9133644223133644223Human1name
597935659CV3759455single nucleotide variantNM_000787.4(DBH):c.914G>A (p.Gly305Asp)Orthostatic hypotension 1 [RCV005076575]uncertain significance9133643582133643582Human1name , alternate_id
598251925CV3963465single nucleotide variantNM_000787.4(DBH):c.406G>T (p.Val136Leu)Inborn genetic diseases [RCV005323154]uncertain significance9133639912133639912Human1name
13618889CV524253single nucleotide variantNM_000787.4(DBH):c.850G>A (p.Asp284Asn)Orthostatic hypotension 1 [RCV001169494]benign|likely benign9133643518133643518Human1name , alternate_id
13618885CV524516single nucleotide variantNM_000787.4(DBH):c.490G>A (p.Gly164Ser)Inborn genetic diseases [RCV004025458]|Orthostatic hypotension 1 [RCV000635252]uncertain significance9133642210133642210Human2name , alternate_id
13822197CV563698single nucleotide variantNM_000787.4(DBH):c.380C>T (p.Pro127Leu)Orthostatic hypotension 1 [RCV000696980]uncertain significance9133639886133639886Human1name , alternate_id
14731592CV637935single nucleotide variantNM_000787.4(DBH):c.583G>A (p.Val195Met)Inborn genetic diseases [RCV004028064]|Orthostatic hypotension 1 [RCV000801479]uncertain significance9133642303133642303Human2name , alternate_id
15187520CV700874single nucleotide variantNM_000787.4(DBH):c.985C>T (p.Arg329Cys)DBH-related disorder [RCV003895770]|Orthostatic hypotension 1 [RCV002066330]likely benign9133644281133644281Human1name , trait , alternate_id
15157866CV723421single nucleotide variantNM_000787.4(DBH):c.322G>T (p.Asp108Tyr)DBH-related disorder [RCV004757299]|Orthostatic hypotension 1 [RCV001485633]likely benign9133636693133636693Human1name , trait , alternate_id
15158203CV751522single nucleotide variantNM_000787.4(DBH):c.901G>A (p.Ala301Thr)Orthostatic hypotension 1 [RCV001453809]likely benign9133643569133643569Human1name , alternate_id
26911323CV835739single nucleotide variantNM_000787.4(DBH):c.632C>T (p.Ala211Val)Inborn genetic diseases [RCV004973262]|Orthostatic hypotension 1 [RCV001038766]|not provided [RCV004693467]likely benign|uncertain significance9133642352133642352Human2name , alternate_id
26902142CV835740single nucleotide variantNM_000787.4(DBH):c.946G>A (p.Gly316Ser)Inborn genetic diseases [RCV005318569]|Orthostatic hypotension 1 [RCV001035885]uncertain significance9133644242133644242Human2name , alternate_id
26911283CV835741single nucleotide variantNM_000787.4(DBH):c.949C>T (p.Leu317Phe)Orthostatic hypotension 1 [RCV001038760]uncertain significance9133644245133644245Human1name , alternate_id
26884603CV835742single nucleotide variantNM_000787.4(DBH):c.958G>A (p.Gly320Arg)Inborn genetic diseases [RCV003363061]|Orthostatic hypotension 1 [RCV001043043]uncertain significance9133644254133644254Human2name , alternate_id
28885267CV901444single nucleotide variantNM_000787.4(DBH):c.717G>C (p.Lys239Asn)Inborn genetic diseases [RCV002558672]|Orthostatic hypotension 1 [RCV001168725]uncertain significance9133642437133642437Human2name , alternate_id
28885272CV901445single nucleotide variantNM_000787.4(DBH):c.736A>G (p.Ile246Val)Orthostatic hypotension 1 [RCV001168726]uncertain significance9133642456133642456Human1name , alternate_id
28887963CV901446single nucleotide variantNM_000787.4(DBH):c.892G>A (p.Val298Met)Orthostatic hypotension 1 [RCV001169495]uncertain significance9133643560133643560Human1name , alternate_id
28887969CV901447single nucleotide variantNM_000787.4(DBH):c.932A>G (p.Tyr311Cys)Orthostatic hypotension 1 [RCV001169496]uncertain significance9133644228133644228Human1name , alternate_id
28874692CV901448single nucleotide variantNM_000787.4(DBH):c.983T>G (p.Leu328Arg)Orthostatic hypotension 1 [RCV001165473]uncertain significance9133644279133644279Human1name , alternate_id
38489318CV925465single nucleotide variantNM_000787.4(DBH):c.557C>T (p.Ser186Leu)Inborn genetic diseases [RCV005328603]|Orthostatic hypotension 1 [RCV001221668]uncertain significance9133642277133642277Human2name , alternate_id
38476952CV946471single nucleotide variantNM_000787.4(DBH):c.653C>T (p.Ala218Val)Orthostatic hypotension 1 [RCV001233309]uncertain significance9133642373133642373Human1name , alternate_id
126773053CV1008472single nucleotide variantNM_000787.4(DBH):c.1172C>A (p.Thr391Lys)Inborn genetic diseases [RCV004609764]|Orthostatic hypotension 1 [RCV001324103]uncertain significance9133647993133647993Human2name , alternate_id
126734231CV1028998single nucleotide variantNM_000787.4(DBH):c.1133C>T (p.Pro378Leu)Inborn genetic diseases [RCV002545622]|Orthostatic hypotension 1 [RCV001349908]uncertain significance9133647954133647954Human2name , alternate_id
127274929CV1097857single nucleotide variantNM_000787.4(DBH):c.1541A>G (p.Lys514Arg)DBH-related disorder [RCV003930936]|Orthostatic hypotension 1 [RCV001443089]likely benign9133656629133656629Human1name , trait , alternate_id
150456480CV1249622insertionNM_000787.4(DBH):c.1722+204_1722+205insAnot provided [RCV001668837]benign9133657433133657434Humanname
151741732CV1335524single nucleotide variantNM_000787.4(DBH):c.1409C>T (p.Thr470Ile)Orthostatic hypotension 1 [RCV001845045]not provided9133652974133652974Humanname , alternate_id
151818749CV1337688single nucleotide variantNM_000787.4(DBH):c.1075C>T (p.Arg359Cys)Orthostatic hypotension 1 [RCV001919352]uncertain significance9133647896133647896Human1name , alternate_id
151754744CV1343323single nucleotide variantNM_000787.4(DBH):c.1172C>G (p.Thr391Arg)Orthostatic hypotension 1 [RCV002043642]uncertain significance9133647993133647993Human1name , alternate_id
151758029CV1361523single nucleotide variantNM_000787.4(DBH):c.1172C>T (p.Thr391Met)Orthostatic hypotension 1 [RCV001928186]uncertain significance9133647993133647993Human1name , alternate_id
151882706CV1381906single nucleotide variantNM_000787.4(DBH):c.1174G>A (p.Asp392Asn)Orthostatic hypotension 1 [RCV001941354]uncertain significance9133647995133647995Human1name , alternate_id
151808104CV1383815single nucleotide variantNM_000787.4(DBH):c.1285C>T (p.Arg429Trp)Orthostatic hypotension 1 [RCV001877996]uncertain significance9133651727133651727Human1name , alternate_id
151854510CV1390917single nucleotide variantNM_000787.4(DBH):c.1019T>C (p.Ile340Thr)Orthostatic hypotension 1 [RCV001958423]uncertain significance9133644315133644315Human1name , alternate_id
151846086CV1395200single nucleotide variantNM_000787.4(DBH):c.1396T>C (p.Cys466Arg)Orthostatic hypotension 1 [RCV001995352]uncertain significance9133652961133652961Human1name , alternate_id
151822115CV1412598single nucleotide variantNM_000787.4(DBH):c.1360G>A (p.Val454Met)Inborn genetic diseases [RCV003264276]|Orthostatic hypotension 1 [RCV001919677]uncertain significance9133652270133652270Human2name , alternate_id
151821714CV1415511single nucleotide variantNM_000787.4(DBH):c.1733A>C (p.Asn578Thr)Orthostatic hypotension 1 [RCV001900947]uncertain significance9133658326133658326Human1name , alternate_id
151793991CV1420515single nucleotide variantNM_000787.4(DBH):c.1646G>A (p.Arg549His)Inborn genetic diseases [RCV004612110]|Orthostatic hypotension 1 [RCV002027482]uncertain significance9133657153133657153Human2name , alternate_id
151714414CV1457614single nucleotide variantNM_000787.4(DBH):c.1610A>C (p.Gln537Pro)Orthostatic hypotension 1 [RCV001964935]uncertain significance9133657117133657117Human1name , alternate_id
151854779CV1473657single nucleotide variantNM_000787.4(DBH):c.1418G>A (p.Arg473Gln)Inborn genetic diseases [RCV002547980]|Orthostatic hypotension 1 [RCV001904550]uncertain significance9133652983133652983Human2name , alternate_id
151848943CV1480408single nucleotide variantNM_000787.4(DBH):c.1498C>G (p.Leu500Val)Orthostatic hypotension 1 [RCV001903828]uncertain significance9133656586133656586Human1name , alternate_id
151817985CV1482049single nucleotide variantNM_000787.4(DBH):c.1648G>A (p.Asp550Asn)Orthostatic hypotension 1 [RCV002029608]uncertain significance9133657155133657155Human1name , alternate_id
151856107CV1487449single nucleotide variantNM_000787.4(DBH):c.1346T>C (p.Met449Thr)Orthostatic hypotension 1 [RCV001923415]uncertain significance9133652256133652256Human1name , alternate_id
151740732CV1492476single nucleotide variantNM_000787.4(DBH):c.1076G>A (p.Arg359His)Orthostatic hypotension 1 [RCV002042204]uncertain significance9133647897133647897Human1name , alternate_id
151761777CV1502956single nucleotide variantNM_000787.4(DBH):c.1030A>C (p.Asn344His)Inborn genetic diseases [RCV002560422]|Orthostatic hypotension 1 [RCV001914074]likely benign|uncertain significance9133647851133647851Human2name , alternate_id
156290413CV1881786single nucleotide variantNM_000787.4(DBH):c.1715G>A (p.Arg572His)Orthostatic hypotension 1 [RCV003061432]uncertain significance9133657222133657222Human1name , alternate_id
156038820CV1890857single nucleotide variantNM_000787.4(DBH):c.1393T>A (p.Ser465Thr)Orthostatic hypotension 1 [RCV003078430]uncertain significance9133652958133652958Human1name , alternate_id
156086900CV1899032single nucleotide variantNM_000787.4(DBH):c.1646G>T (p.Arg549Leu)Inborn genetic diseases [RCV005323340]|Orthostatic hypotension 1 [RCV003080070]uncertain significance9133657153133657153Human2name , alternate_id
156371420CV1905423single nucleotide variantNM_000787.4(DBH):c.1328A>G (p.His443Arg)Inborn genetic diseases [RCV003073424]|Orthostatic hypotension 1 [RCV003092464]uncertain significance9133651770133651770Human2name , alternate_id
156401801CV1908025single nucleotide variantNM_000787.4(DBH):c.1048C>T (p.Arg350Cys)Orthostatic hypotension 1 [RCV002584957]uncertain significance9133647869133647869Human1name , alternate_id
155944721CV1911208single nucleotide variantNM_000787.4(DBH):c.1084G>A (p.Ala362Thr)Orthostatic hypotension 1 [RCV002615863]uncertain significance9133647905133647905Human1name , alternate_id
156016770CV1918354single nucleotide variantNM_000787.4(DBH):c.1714C>T (p.Arg572Cys)Orthostatic hypotension 1 [RCV002636505]uncertain significance9133657221133657221Human1name , alternate_id
156409628CV1922792single nucleotide variantNM_000787.4(DBH):c.1360G>C (p.Val454Leu)Orthostatic hypotension 1 [RCV002607614]uncertain significance9133652270133652270Human1name , alternate_id
156060584CV1938231single nucleotide variantNM_000787.4(DBH):c.1417C>T (p.Arg473Trp)Inborn genetic diseases [RCV002978331]|Orthostatic hypotension 1 [RCV003111735]uncertain significance9133652982133652982Human2name , alternate_id
156255951CV1960817single nucleotide variantNM_000787.4(DBH):c.1738C>G (p.Gln580Glu)Orthostatic hypotension 1 [RCV002576689]uncertain significance9133658331133658331Human1name , alternate_id
156263371CV1993756single nucleotide variantNM_000787.4(DBH):c.1357G>T (p.Val453Phe)Inborn genetic diseases [RCV003357970]|Orthostatic hypotension 1 [RCV002646290]uncertain significance9133652267133652267Human2name , alternate_id
156017748CV2019157single nucleotide variantNM_000787.4(DBH):c.1356G>C (p.Lys452Asn)Orthostatic hypotension 1 [RCV002690849]uncertain significance9133652266133652266Human1name , alternate_id
155943919CV2032537single nucleotide variantNM_000787.4(DBH):c.1511A>G (p.Lys504Arg)Orthostatic hypotension 1 [RCV002730293]uncertain significance9133656599133656599Human1name , alternate_id
156304134CV2070120single nucleotide variantNM_000787.4(DBH):c.1141G>C (p.Glu381Gln)Orthostatic hypotension 1 [RCV002833770]uncertain significance9133647962133647962Human1name , alternate_id
156202016CV2076524single nucleotide variantNM_000787.4(DBH):c.1002C>A (p.Tyr334Ter)Orthostatic hypotension 1 [RCV002852500]pathogenic9133644298133644298Human1name , alternate_id
156053954CV2101874single nucleotide variantNM_000787.4(DBH):c.1073G>A (p.Arg358Gln)Orthostatic hypotension 1 [RCV002886256]uncertain significance9133647894133647894Human1name , alternate_id
156142286CV2106124single nucleotide variantNM_000787.4(DBH):c.1453G>A (p.Glu485Lys)Orthostatic hypotension 1 [RCV002928599]uncertain significance9133656541133656541Human1name , alternate_id
156226876CV2115403single nucleotide variantNM_000787.4(DBH):c.1415A>G (p.Asp472Gly)Orthostatic hypotension 1 [RCV002932672]uncertain significance9133652980133652980Human1name , alternate_id
156312005CV2120077single nucleotide variantNM_000787.4(DBH):c.1138C>T (p.Arg380Trp)Inborn genetic diseases [RCV003170751]|Orthostatic hypotension 1 [RCV002962676]uncertain significance9133647959133647959Human2name , alternate_id
156391792CV2127196single nucleotide variantNM_000787.4(DBH):c.1805G>A (p.Arg602Gln)Orthostatic hypotension 1 [RCV002943978]uncertain significance9133658398133658398Human1name , alternate_id
156300607CV2129474single nucleotide variantNM_000787.4(DBH):c.1115C>T (p.Thr372Met)Inborn genetic diseases [RCV004068206]|Orthostatic hypotension 1 [RCV002962126]uncertain significance9133647936133647936Human2name , alternate_id
156262974CV2138765single nucleotide variantNM_000787.4(DBH):c.1676C>T (p.Ala559Val)Orthostatic hypotension 1 [RCV002988534]uncertain significance9133657183133657183Human1name , alternate_id
10448401CV214413single nucleotide variantNM_000787.4(DBH):c.1085C>A (p.Ala362Glu)Orthostatic hypotension 1 [RCV000201828]pathogenic|not provided9133647906133647906Human1name , alternate_id
10448406CV214414single nucleotide variantNM_000787.4(DBH):c.1667A>G (p.Tyr556Cys)Orthostatic hypotension 1 [RCV000201842]pathogenic|not provided9133657174133657174Human1name , alternate_id
156001454CV2169972single nucleotide variantNM_000787.4(DBH):c.1379A>G (p.Asp460Gly)Orthostatic hypotension 1 [RCV003017292]uncertain significance9133652944133652944Human1name , alternate_id
156259432CV2204734single nucleotide variantNM_000787.4(DBH):c.1592C>G (p.Pro531Arg)Inborn genetic diseases [RCV002668858]uncertain significance9133657099133657099Human1name
156401751CV2217643single nucleotide variantNM_000787.4(DBH):c.1832G>A (p.Ser611Asn)Inborn genetic diseases [RCV002657102]likely benign9133658425133658425Human1name
156340073CV2229404single nucleotide variantNM_000787.4(DBH):c.1064C>G (p.Ala355Gly)Inborn genetic diseases [RCV002719011]uncertain significance9133647885133647885Human1name
156102796CV2313622single nucleotide variantNM_000787.4(DBH):c.1379A>T (p.Asp460Val)Inborn genetic diseases [RCV002888737]uncertain significance9133652944133652944Human1name
156048991CV2319278single nucleotide variantNM_000787.4(DBH):c.1177A>G (p.Lys393Glu)Inborn genetic diseases [RCV002949995]uncertain significance9133647998133647998Human1name
156340447CV2368263single nucleotide variantNM_000787.4(DBH):c.1364C>T (p.Ser455Leu)Inborn genetic diseases [RCV002674371]uncertain significance9133652274133652274Human1name
155999987CV2373477single nucleotide variantNM_000787.4(DBH):c.1221C>G (p.Phe407Leu)Inborn genetic diseases [RCV002689967]uncertain significance9133651663133651663Human1name
329371494CV2431884single nucleotide variantNM_000787.4(DBH):c.1165T>G (p.Tyr389Asp)Inborn genetic diseases [RCV003184426]uncertain significance9133647986133647986Human1name
329391533CV2448669single nucleotide variantNM_000787.4(DBH):c.1754T>G (p.Val585Gly)Inborn genetic diseases [RCV003192191]|Orthostatic hypotension 1 [RCV003600450]likely benign9133658347133658347Human2name , alternate_id
329370697CV2461833single nucleotide variantNM_000787.4(DBH):c.1831A>G (p.Ser611Gly)Inborn genetic diseases [RCV003209517]uncertain significance9133658424133658424Human1name
401759441CV2690901single nucleotide variantNM_000787.4(DBH):c.1576G>A (p.Asp526Asn)Inborn genetic diseases [RCV003280161]uncertain significance9133657083133657083Human1name
405018943CV2949333single nucleotide variantNM_000787.4(DBH):c.1270C>G (p.Leu424Val)Orthostatic hypotension 1 [RCV003600676]uncertain significance9133651712133651712Human1name , alternate_id
11607151CV307407single nucleotide variantNM_000787.4(DBH):c.1094T>C (p.Met365Thr)Orthostatic hypotension 1 [RCV000340168]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133647915133647915Human1name , alternate_id
11612285CV307409single nucleotide variantNM_000787.4(DBH):c.1139G>A (p.Arg380Gln)Orthostatic hypotension 1 [RCV000406797]uncertain significance9133647960133647960Human1name , alternate_id
11604566CV311670single nucleotide variantNM_000787.4(DBH):c.1451T>C (p.Leu484Pro)Inborn genetic diseases [RCV002523754]|Orthostatic hypotension 1 [RCV000310857]uncertain significance9133656539133656539Human2name , alternate_id
11610233CV311673single nucleotide variantNM_000787.4(DBH):c.1825G>A (p.Val609Ile)Inborn genetic diseases [RCV002523755]|Orthostatic hypotension 1 [RCV000378583]likely benign|uncertain significance9133658418133658418Human2name , alternate_id
11607449CV311675single nucleotide variantNM_000787.4(DBH):c.1840G>A (p.Gly614Arg)Inborn genetic diseases [RCV002524590]|Orthostatic hypotension 1 [RCV000343761]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133658433133658433Human2name , alternate_id
11609204CV317219single nucleotide variantNM_000787.4(DBH):c.1493C>T (p.Thr498Met)Orthostatic hypotension 1 [RCV000365476]uncertain significance9133656581133656581Human1name , alternate_id
11604720CV317221single nucleotide variantNM_000787.4(DBH):c.1556T>C (p.Ile519Thr)Orthostatic hypotension 1 [RCV000311960]uncertain significance9133656644133656644Human1name , alternate_id
11602197CV317228single nucleotide variantNM_000787.4(DBH):c.1835T>C (p.Ile612Thr)Inborn genetic diseases [RCV003258800]|Orthostatic hypotension 1 [RCV000288757]uncertain significance9133658428133658428Human2name , alternate_id
11601238CV317596single nucleotide variantNM_000787.4(DBH):c.1028G>A (p.Arg343Gln)Orthostatic hypotension 1 [RCV000280493]uncertain significance9133647849133647849Human1name , alternate_id
11612059CV317607single nucleotide variantNM_000787.4(DBH):c.1516G>A (p.Ala506Thr)Orthostatic hypotension 1 [RCV000403409]uncertain significance9133656604133656604Human1name , alternate_id
11605368CV317614single nucleotide variantNM_000787.4(DBH):c.1645C>T (p.Arg549Cys)Orthostatic hypotension 1 [RCV000318690]|not provided [RCV001653753]benign|likely benign9133657152133657152Human17name , alternate_id
405689333CV3246420single nucleotide variantNM_000787.4(DBH):c.1147G>A (p.Ala383Thr)Inborn genetic diseases [RCV004372990]uncertain significance9133647968133647968Human1name
405689338CV3246421single nucleotide variantNM_000787.4(DBH):c.1163G>A (p.Gly388Asp)Inborn genetic diseases [RCV004372991]uncertain significance9133647984133647984Human1name
405689343CV3246422single nucleotide variantNM_000787.4(DBH):c.1603G>A (p.Val535Met)Inborn genetic diseases [RCV004372992]uncertain significance9133657110133657110Human1name
405689351CV3246423single nucleotide variantNM_000787.4(DBH):c.1627C>T (p.Pro543Ser)Inborn genetic diseases [RCV004372993]uncertain significance9133657134133657134Human1name
405689356CV3246424single nucleotide variantNM_000787.4(DBH):c.1778C>T (p.Thr593Ile)Inborn genetic diseases [RCV004372994]uncertain significance9133658371133658371Human1name
407453099CV3430164single nucleotide variantNM_000787.4(DBH):c.1651G>A (p.Val551Ile)Inborn genetic diseases [RCV004608832]uncertain significance9133657158133657158Human1name
597673043CV3651799single nucleotide variantNM_000787.4(DBH):c.1474G>A (p.Val492Met)Inborn genetic diseases [RCV004981585]uncertain significance9133656562133656562Human1name
597673048CV3651800single nucleotide variantNM_000787.4(DBH):c.1322G>C (p.Ser441Thr)Inborn genetic diseases [RCV004981586]uncertain significance9133651764133651764Human1name
597673055CV3651801single nucleotide variantNM_000787.4(DBH):c.1205C>G (p.Ser402Cys)Inborn genetic diseases [RCV004981587]uncertain significance9133651647133651647Human1name
597673067CV3651803single nucleotide variantNM_000787.4(DBH):c.1180T>C (p.Cys394Arg)Inborn genetic diseases [RCV004981589]uncertain significance9133648001133648001Human1name
597673089CV3651808single nucleotide variantNM_000787.4(DBH):c.1400C>A (p.Thr467Lys)Inborn genetic diseases [RCV004981593]uncertain significance9133652965133652965Human1name
10448397CV38418single nucleotide variantNM_000787.4(DBH):c.1033G>A (p.Asp345Asn)Orthostatic hypotension 1 [RCV000201811]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance9133647854133647854Human1name , alternate_id
598251928CV3963466single nucleotide variantNM_000787.4(DBH):c.1373C>T (p.Pro458Leu)Inborn genetic diseases [RCV005323155]uncertain significance9133652283133652283Human1name
13462900CV439060single nucleotide variantNM_000787.4(DBH):c.1198C>T (p.Pro400Ser)Inborn genetic diseases [RCV004975605]|Orthostatic hypotension 1 [RCV001167072]|not provided [RCV000515036]uncertain significance9133651640133651640Human2name , alternate_id
13486019CV444393single nucleotide variantNM_000787.4(DBH):c.1804C>T (p.Arg602Ter)Orthostatic hypotension 1 [RCV005091200]|not provided [RCV000522774]pathogenic|uncertain significance9133658397133658397Human1name , alternate_id
13618887CV524520single nucleotide variantNM_000787.4(DBH):c.1444G>A (p.Gly482Arg)DBH-related disorder [RCV003905708]|Orthostatic hypotension 1 [RCV000635253]|not provided [RCV003151800]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133656532133656532Human1name , trait , alternate_id
14713869CV637936single nucleotide variantNM_000787.4(DBH):c.1066A>G (p.Lys356Glu)Orthostatic hypotension 1 [RCV000794232]uncertain significance9133647887133647887Human1name , alternate_id
14711139CV637937single nucleotide variantNM_000787.4(DBH):c.1343G>A (p.Arg448His)Inborn genetic diseases [RCV005318535]|Orthostatic hypotension 1 [RCV000809838]uncertain significance9133652253133652253Human2name , alternate_id
14707570CV637938single nucleotide variantNM_000787.4(DBH):c.1546T>C (p.Phe516Leu)Orthostatic hypotension 1 [RCV000792359]uncertain significance9133656634133656634Human1name , alternate_id
15173159CV700875single nucleotide variantNM_000787.4(DBH):c.1085C>T (p.Ala362Val)DBH-related disorder [RCV003903201]|Orthostatic hypotension 1 [RCV000950180]|not provided [RCV004569816]likely benign9133647906133647906Human1name , trait , alternate_id
15194796CV723427single nucleotide variantNM_000787.4(DBH):c.1819C>T (p.Pro607Ser)DBH-related disorder [RCV004757303]|Orthostatic hypotension 1 [RCV000889319]benign|likely benign9133658412133658412Human1name , trait , alternate_id
26885232CV835743single nucleotide variantNM_000787.4(DBH):c.1772A>T (p.Glu591Val)Orthostatic hypotension 1 [RCV001065337]|not provided [RCV003433009]likely benign|conflicting interpretations of pathogenicity|uncertain significance9133658365133658365Human1name , alternate_id
28874696CV901449single nucleotide variantNM_000787.4(DBH):c.1001A>T (p.Tyr334Phe)Inborn genetic diseases [RCV005318638]|Orthostatic hypotension 1 [RCV001165474]uncertain significance9133644297133644297Human2name , alternate_id
28879544CV901451single nucleotide variantNM_000787.4(DBH):c.1148C>T (p.Ala383Val)Inborn genetic diseases [RCV004032892]|Orthostatic hypotension 1 [RCV001167070]uncertain significance9133647969133647969Human2name , alternate_id
28881503CV901453single nucleotide variantNM_000787.4(DBH):c.1286G>A (p.Arg429Gln)Inborn genetic diseases [RCV003259133]|Orthostatic hypotension 1 [RCV001167649]uncertain significance9133651728133651728Human2name , alternate_id
28881505CV901454single nucleotide variantNM_000787.4(DBH):c.1300G>A (p.Val434Met)Inborn genetic diseases [RCV004978078]|Orthostatic hypotension 1 [RCV001167650]uncertain significance9133651742133651742Human2name , alternate_id
28874851CV901456single nucleotide variantNM_000787.4(DBH):c.1643A>G (p.Asn548Ser)Orthostatic hypotension 1 [RCV001165538]conflicting interpretations of pathogenicity|uncertain significance9133657150133657150Human1name , alternate_id
28874854CV901457single nucleotide variantNM_000787.4(DBH):c.1688T>C (p.Met563Thr)Inborn genetic diseases [RCV003363129]|Orthostatic hypotension 1 [RCV001165539]uncertain significance9133657195133657195Human2name , alternate_id
28879767CV901458single nucleotide variantNM_000787.4(DBH):c.1813G>A (p.Ala605Thr)Orthostatic hypotension 1 [RCV001167133]uncertain significance9133658406133658406Human1name , alternate_id
126909480CV972467single nucleotide variantNM_000787.4(DBH):c.1486C>T (p.Pro496Ser)Sensorineural hearing loss disorder [RCV001353209]uncertain significance9133656574133656574Human2name
126748146CV993268single nucleotide variantNM_000787.4(DBH):c.1282G>A (p.Gly428Ser)Orthostatic hypotension 1 [RCV001296873]uncertain significance9133651724133651724Human1name , alternate_id
126742013CV993269single nucleotide variantNM_000787.4(DBH):c.1528G>A (p.Gly510Ser)Orthostatic hypotension 1 [RCV001295987]uncertain significance9133656616133656616Human1name , alternate_id
151794412CV1420564microsatelliteNM_000787.4(DBH):c.1553TCA[1] (p.Ile519del)Orthostatic hypotension 1 [RCV002027520]uncertain significance9133656641133656643Humanname , alternate_id
597848699CV3824141microsatelliteNM_000787.4(DBH):c.1453GAG[1] (p.Glu486del)Orthostatic hypotension 1 [RCV005173380]uncertain significance9133656540133656542Humanname , alternate_id
151835531CV1451763deletionNM_000787.4(DBH):c.1692_1696del (p.His564fs)Orthostatic hypotension 1 [RCV001994153]uncertain significance9133657195133657199Human1name , alternate_id
156317644CV1879772inversionNM_000787.4(DBH):c.1204_1206inv (p.Ser402Gly)Orthostatic hypotension 1 [RCV003062853]uncertain significance9133651646133651648Humanname , alternate_id
155926468CV2284900deletionNM_000787.4(DBH):c.1156_1158del (p.Leu386del)Inborn genetic diseases [RCV002860378]uncertain significance9133647975133647977Human1name
405107264CV2920986microsatelliteNM_000787.4(DBH):c.1239_1242del (p.Thr413_His414insTer)Orthostatic hypotension 1 [RCV003498517]pathogenic9133651676133651679Humanname , alternate_id
405016177CV3139072duplicationNM_000787.4(DBH):c.1795_1824dup (p.Thr608_Val609insSerGlnGlyArgSerProAlaGlyProThr)Orthostatic hypotension 1 [RCV003829409]uncertain significance9133658379133658380Human1name , alternate_id
405293529CV3214221single nucleotide variantNC_000009.12:g.133630108C>TDBH-related disorder [RCV003931925]benign9133630108133630108Humantrait , alternate_id
156436297CV1945613deletionNC_000009.11:g.(?_136501494)_(136505134_?)delOrthostatic hypotension 1 [RCV003105330]pathogenicHuman1alternate_id
156436298CV1945614duplicationNC_000009.11:g.(?_136501494)_(136523569_?)dupOrthostatic hypotension 1 [RCV003105331]uncertain significanceHuman1alternate_id
156436299CV1945615duplicationNC_000009.11:g.(?_136501494)_(136501852_?)dupOrthostatic hypotension 1 [RCV003105332]uncertain significanceHuman1alternate_id
10448441CV214408microsatelliteNC_000009.11:g.136496870_136496871(11_15)Orthostatic hypotension 1 [RCV000201799]benign9133631748133631749Humanalternate_id
11075115CV227065indel19-bp insertion/deletionOrthostatic hypotension 1 [RCV000201831]benignHumanalternate_id
11075114CV227067variationMspI polymorphic site in intron 9Orthostatic hypotension 1 [RCV000201801]benignHumanalternate_id