| 28881717 | CV901459 | single nucleotide variant | NM_000787.4(DBH):c.*52G>A | Orthostatic hypotension 1 [RCV001167711] | uncertain significance | 9 | 133658499 | 133658499 | Human | 1 | name , alternate_id |
| 28881721 | CV901460 | single nucleotide variant | NM_000787.4(DBH):c.*58G>A | Orthostatic hypotension 1 [RCV001167712] | benign | 9 | 133658505 | 133658505 | Human | 1 | name , alternate_id |
| 28881725 | CV901461 | single nucleotide variant | NM_000787.4(DBH):c.*73C>T | Orthostatic hypotension 1 [RCV001167713] | uncertain significance | 9 | 133658520 | 133658520 | Human | 1 | name , alternate_id |
| 28881728 | CV901462 | single nucleotide variant | NM_000787.4(DBH):c.*89A>G | Orthostatic hypotension 1 [RCV001167714]|not provided [RCV004706059] | likely benign | 9 | 133658536 | 133658536 | Human | 1 | name , alternate_id |
| 10448404 | CV214409 | single nucleotide variant | NM_000787.3(DBH):c.-979T>C | Orthostatic hypotension 1 [RCV000201837] | benign|not provided | 9 | 133635393 | 133635393 | Human | 1 | name , alternate_id |
| 11606051 | CV307424 | single nucleotide variant | NM_000787.4(DBH):c.*431C>T | Orthostatic hypotension 1 [RCV000326664] | uncertain significance | 9 | 133658878 | 133658878 | Human | 1 | name , alternate_id |
| 11661948 | CV307428 | single nucleotide variant | NM_000787.4(DBH):c.*459A>G | Orthostatic hypotension 1 [RCV000381380] | uncertain significance | 9 | 133658906 | 133658906 | Human | 1 | name , alternate_id |
| 11606126 | CV307440 | single nucleotide variant | NM_000787.4(DBH):c.*845G>A | Orthostatic hypotension 1 [RCV000328002] | uncertain significance | 9 | 133659292 | 133659292 | Human | 1 | name , alternate_id |
| 11610627 | CV311677 | single nucleotide variant | NM_000787.4(DBH):c.*100C>T | Orthostatic hypotension 1 [RCV000384217]|not provided [RCV001712164] | benign | 9 | 133658547 | 133658547 | Human | 1 | name , alternate_id |
| 11607984 | CV311680 | single nucleotide variant | NM_000787.4(DBH):c.*213A>C | Orthostatic hypotension 1 [RCV000349523] | uncertain significance | 9 | 133658660 | 133658660 | Human | 1 | name , alternate_id |
| 11658667 | CV311684 | single nucleotide variant | NM_000787.4(DBH):c.*283A>C | Orthostatic hypotension 1 [RCV000351033] | uncertain significance | 9 | 133658730 | 133658730 | Human | 1 | name , alternate_id |
| 11659350 | CV311692 | single nucleotide variant | NM_000787.4(DBH):c.*383C>T | Orthostatic hypotension 1 [RCV000356913] | uncertain significance | 9 | 133658830 | 133658830 | Human | 1 | name , alternate_id |
| 11649844 | CV317240 | single nucleotide variant | NM_000787.4(DBH):c.*116G>A | Orthostatic hypotension 1 [RCV000289786] | uncertain significance | 9 | 133658563 | 133658563 | Human | 1 | name , alternate_id |
| 11603160 | CV317244 | single nucleotide variant | NM_000787.4(DBH):c.*318C>A | Orthostatic hypotension 1 [RCV000297139] | uncertain significance | 9 | 133658765 | 133658765 | Human | 1 | name , alternate_id |
| 11659438 | CV317245 | single nucleotide variant | NM_000787.4(DBH):c.*401C>T | Orthostatic hypotension 1 [RCV000357998] | uncertain significance | 9 | 133658848 | 133658848 | Human | 1 | name , alternate_id |
| 11599618 | CV317250 | single nucleotide variant | NM_000787.4(DBH):c.*415C>T | Orthostatic hypotension 1 [RCV000266918] | uncertain significance | 9 | 133658862 | 133658862 | Human | 1 | name , alternate_id |
| 11612379 | CV317621 | single nucleotide variant | NM_000787.4(DBH):c.*222C>T | Orthostatic hypotension 1 [RCV000408184] | uncertain significance | 9 | 133658669 | 133658669 | Human | 1 | name , alternate_id |
| 11605017 | CV317622 | single nucleotide variant | NM_000787.4(DBH):c.*278T>C | Orthostatic hypotension 1 [RCV000314850]|not provided [RCV004718604] | benign|likely benign | 9 | 133658725 | 133658725 | Human | 1 | name , alternate_id |
| 11662905 | CV317623 | single nucleotide variant | NM_000787.4(DBH):c.*315G>A | Orthostatic hypotension 1 [RCV000390544] | uncertain significance | 9 | 133658762 | 133658762 | Human | 1 | name , alternate_id |
| 11603741 | CV317636 | single nucleotide variant | NM_000787.4(DBH):c.*390G>A | Orthostatic hypotension 1 [RCV000303176]|not provided [RCV004718605] | benign|likely benign | 9 | 133658837 | 133658837 | Human | 1 | name , alternate_id |
| 11662547 | CV317658 | single nucleotide variant | NM_000787.4(DBH):c.*846G>A | Orthostatic hypotension 1 [RCV000387211] | uncertain significance | 9 | 133659293 | 133659293 | Human | 1 | name , alternate_id |
| 28881731 | CV901463 | single nucleotide variant | NM_000787.4(DBH):c.*180A>G | Orthostatic hypotension 1 [RCV001167715] | uncertain significance | 9 | 133658627 | 133658627 | Human | 1 | name , alternate_id |
| 28888329 | CV901464 | single nucleotide variant | NM_000787.4(DBH):c.*253C>G | Orthostatic hypotension 1 [RCV001169587] | uncertain significance | 9 | 133658700 | 133658700 | Human | 1 | name , alternate_id |
| 28888330 | CV901465 | single nucleotide variant | NM_000787.4(DBH):c.*268A>G | Orthostatic hypotension 1 [RCV001169588] | uncertain significance | 9 | 133658715 | 133658715 | Human | 1 | name , alternate_id |
| 28888334 | CV901466 | single nucleotide variant | NM_000787.4(DBH):c.*319C>T | Orthostatic hypotension 1 [RCV001169589] | uncertain significance | 9 | 133658766 | 133658766 | Human | 1 | name , alternate_id |
| 28875056 | CV901467 | single nucleotide variant | NM_000787.4(DBH):c.*320G>A | Orthostatic hypotension 1 [RCV001165610] | uncertain significance | 9 | 133658767 | 133658767 | Human | 1 | name , alternate_id |
| 28875059 | CV901468 | single nucleotide variant | NM_000787.4(DBH):c.*393C>T | Orthostatic hypotension 1 [RCV001165611]|not provided [RCV004695078] | uncertain significance | 9 | 133658840 | 133658840 | Human | 1 | name , alternate_id |
| 28875061 | CV901469 | single nucleotide variant | NM_000787.4(DBH):c.*394C>T | Orthostatic hypotension 1 [RCV001165612] | likely benign | 9 | 133658841 | 133658841 | Human | 1 | name , alternate_id |
| 28875064 | CV901470 | single nucleotide variant | NM_000787.4(DBH):c.*398C>T | Orthostatic hypotension 1 [RCV001165613] | uncertain significance | 9 | 133658845 | 133658845 | Human | 1 | name , alternate_id |
| 28875067 | CV901471 | single nucleotide variant | NM_000787.4(DBH):c.*414C>G | Orthostatic hypotension 1 [RCV001165614] | uncertain significance | 9 | 133658861 | 133658861 | Human | 1 | name , alternate_id |
| 28880009 | CV901472 | single nucleotide variant | NM_000787.4(DBH):c.*425C>T | Orthostatic hypotension 1 [RCV001167200] | uncertain significance | 9 | 133658872 | 133658872 | Human | 1 | name , alternate_id |
| 28880014 | CV901473 | single nucleotide variant | NM_000787.4(DBH):c.*482C>T | Orthostatic hypotension 1 [RCV001167201] | uncertain significance | 9 | 133658929 | 133658929 | Human | 1 | name , alternate_id |
| 28880017 | CV901474 | single nucleotide variant | NM_000787.4(DBH):c.*493C>T | Orthostatic hypotension 1 [RCV001167202] | uncertain significance | 9 | 133658940 | 133658940 | Human | 1 | name , alternate_id |
| 28880022 | CV901475 | single nucleotide variant | NM_000787.4(DBH):c.*649C>T | Orthostatic hypotension 1 [RCV001167203] | uncertain significance | 9 | 133659096 | 133659096 | Human | 1 | name , alternate_id |
| 28880024 | CV901476 | single nucleotide variant | NM_000787.4(DBH):c.*698C>T | Orthostatic hypotension 1 [RCV001167204] | uncertain significance | 9 | 133659145 | 133659145 | Human | 1 | name , alternate_id |
| 28882002 | CV901477 | single nucleotide variant | NM_000787.4(DBH):c.*837T>G | Orthostatic hypotension 1 [RCV001167780]|not provided [RCV004718828] | benign | 9 | 133659284 | 133659284 | Human | 1 | name , alternate_id |
| 28882007 | CV901478 | single nucleotide variant | NM_000787.4(DBH):c.*840C>T | Orthostatic hypotension 1 [RCV001167781] | benign | 9 | 133659287 | 133659287 | Human | 1 | name , alternate_id |
| 28882012 | CV901479 | single nucleotide variant | NM_000787.4(DBH):c.*844C>T | Orthostatic hypotension 1 [RCV001167782] | likely benign | 9 | 133659291 | 133659291 | Human | 1 | name , alternate_id |
| 127295227 | CV1119440 | single nucleotide variant | NM_000787.4(DBH):c.922-7C>T | Orthostatic hypotension 1 [RCV001477048] | likely benign | 9 | 133644211 | 133644211 | Human | 1 | name , alternate_id |
| 151830507 | CV1379090 | deletion | NM_000787.4(DBH):c.744+4del | Inborn genetic diseases [RCV002555277]|Orthostatic hypotension 1 [RCV001935009] | uncertain significance | 9 | 133642468 | 133642468 | Human | 2 | name , alternate_id |
| 151882179 | CV1402506 | single nucleotide variant | NM_000787.4(DBH):c.921+5G>A | Orthostatic hypotension 1 [RCV001961865] | uncertain significance | 9 | 133643594 | 133643594 | Human | 1 | name , alternate_id |
| 8556426 | CV16789 | single nucleotide variant | NM_000787.4(DBH):c.339+2T>C | Orthostatic hypotension 1 [RCV000001820]|not provided [RCV000486465] | pathogenic | 9 | 133636712 | 133636712 | Human | 2 | name , alternate_id |
| 8556426 | CV16789 | single nucleotide variant | NM_000787.4(DBH):c.339+2T>C | Orthostatic hypotension 1 [RCV000001820]|not provided [RCV000486465] | pathogenic | 9 | 133636712 | 133636713 | Human | 2 | name , alternate_id |
| 156444547 | CV1938406 | single nucleotide variant | NM_000787.4(DBH):c.744+5G>A | Orthostatic hypotension 1 [RCV003115471] | uncertain significance | 9 | 133642469 | 133642469 | Human | 1 | name , alternate_id |
| 156011213 | CV2041828 | single nucleotide variant | NM_000787.4(DBH):c.744+4C>T | Orthostatic hypotension 1 [RCV002780153] | uncertain significance | 9 | 133642468 | 133642468 | Human | 1 | name , alternate_id |
| 156148303 | CV2131070 | single nucleotide variant | NM_000787.4(DBH):c.744+5G>T | Orthostatic hypotension 1 [RCV002982560] | uncertain significance | 9 | 133642469 | 133642469 | Human | 1 | name , alternate_id |
| 156168688 | CV2133480 | single nucleotide variant | NM_000787.4(DBH):c.921+4C>T | Orthostatic hypotension 1 [RCV003005319] | uncertain significance | 9 | 133643593 | 133643593 | Human | 1 | name , alternate_id |
| 156023294 | CV2139005 | single nucleotide variant | NM_000787.4(DBH):c.487-9C>T | Orthostatic hypotension 1 [RCV002998786] | likely benign | 9 | 133642198 | 133642198 | Human | 1 | name , alternate_id |
| 405110032 | CV2876118 | single nucleotide variant | NM_000787.4(DBH):c.921+7G>A | Orthostatic hypotension 1 [RCV003499126] | likely benign | 9 | 133643596 | 133643596 | Human | 1 | name , alternate_id |
| 11612166 | CV311662 | single nucleotide variant | NM_000787.4(DBH):c.744+8C>T | Orthostatic hypotension 1 [RCV000404964]|not provided [RCV004718602] | benign|uncertain significance | 9 | 133642472 | 133642472 | Human | 1 | name , alternate_id |
| 11656399 | CV311666 | single nucleotide variant | NM_000787.4(DBH):c.921+8C>T | Orthostatic hypotension 1 [RCV000333318] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 133643597 | 133643597 | Human | 1 | name , alternate_id |
| 405206160 | CV3161944 | single nucleotide variant | NM_000787.4(DBH):c.487-8G>T | Orthostatic hypotension 1 [RCV003861438] | likely benign | 9 | 133642199 | 133642199 | Human | 1 | name , alternate_id |
| 597934043 | CV3777005 | single nucleotide variant | NM_000787.4(DBH):c.339+7C>A | Orthostatic hypotension 1 [RCV005117164] | likely benign | 9 | 133636717 | 133636717 | Human | 1 | name , alternate_id |
| 150484128 | CV1222426 | single nucleotide variant | NM_000787.4(DBH):c.744+50C>T | not provided [RCV001617429] | benign | 9 | 133642514 | 133642514 | Human | | name |
| 150488174 | CV1226018 | single nucleotide variant | NM_000787.4(DBH):c.340-45C>T | not provided [RCV001618179] | benign | 9 | 133639801 | 133639801 | Human | | name |
| 150489372 | CV1237645 | single nucleotide variant | NM_000787.4(DBH):c.922-28C>T | Orthostatic hypotension 1 [RCV001658374]|not provided [RCV001654494] | benign | 9 | 133644190 | 133644190 | Human | 1 | name , alternate_id |
| 150460912 | CV1264241 | single nucleotide variant | NM_000787.4(DBH):c.922-65G>T | not provided [RCV001682158] | benign | 9 | 133644153 | 133644153 | Human | 1 | name |
| 150446598 | CV1271891 | single nucleotide variant | NM_000787.4(DBH):c.487-28G>A | not provided [RCV001691305] | benign | 9 | 133642179 | 133642179 | Human | | name |
| 150511795 | CV1284785 | single nucleotide variant | NM_000787.4(DBH):c.921+53C>T | not provided [RCV001721654] | benign | 9 | 133643642 | 133643642 | Human | | name |
| 151861995 | CV1353958 | single nucleotide variant | NM_000787.4(DBH):c.1024+6C>T | Orthostatic hypotension 1 [RCV001959335] | uncertain significance | 9 | 133644326 | 133644326 | Human | 1 | name , alternate_id |
| 151875273 | CV1507837 | single nucleotide variant | NM_000787.4(DBH):c.486+16G>A | Orthostatic hypotension 1 [RCV001960964] | likely benign | 9 | 133640008 | 133640008 | Human | 1 | name , alternate_id |
| 152037692 | CV1529646 | single nucleotide variant | NM_000787.4(DBH):c.922-18A>C | Orthostatic hypotension 1 [RCV002187779] | likely benign | 9 | 133644200 | 133644200 | Human | 1 | name , alternate_id |
| 152037967 | CV1576562 | single nucleotide variant | NM_000787.4(DBH):c.921+14G>A | Orthostatic hypotension 1 [RCV002107307] | likely benign | 9 | 133643603 | 133643603 | Human | 1 | name , alternate_id |
| 152112933 | CV1640703 | single nucleotide variant | NM_000787.4(DBH):c.340-18C>A | Orthostatic hypotension 1 [RCV002174561] | likely benign | 9 | 133639828 | 133639828 | Human | 1 | name , alternate_id |
| 156113838 | CV1880806 | single nucleotide variant | NM_000787.4(DBH):c.486+14G>A | Orthostatic hypotension 1 [RCV003081156] | likely benign | 9 | 133640006 | 133640006 | Human | 1 | name , alternate_id |
| 156310396 | CV1895329 | single nucleotide variant | NM_000787.4(DBH):c.1722+5G>A | Orthostatic hypotension 1 [RCV003088410] | uncertain significance | 9 | 133657234 | 133657234 | Human | 1 | name , alternate_id |
| 156253758 | CV1993662 | single nucleotide variant | NM_000787.4(DBH):c.1336-7G>C | Orthostatic hypotension 1 [RCV002627537] | likely benign | 9 | 133652239 | 133652239 | Human | 1 | name , alternate_id |
| 156135545 | CV2120682 | single nucleotide variant | NM_000787.4(DBH):c.745-14C>T | Orthostatic hypotension 1 [RCV002982120] | likely benign | 9 | 133643399 | 133643399 | Human | 1 | name , alternate_id |
| 156104239 | CV2164588 | single nucleotide variant | NM_000787.4(DBH):c.1336-4C>G | Orthostatic hypotension 1 [RCV003038699] | likely benign | 9 | 133652242 | 133652242 | Human | 1 | name , alternate_id |
| 405110183 | CV2869317 | single nucleotide variant | NM_000787.4(DBH):c.1192-6C>T | Orthostatic hypotension 1 [RCV003499155] | likely benign | 9 | 133651628 | 133651628 | Human | 1 | name , alternate_id |
| 405110080 | CV2872601 | single nucleotide variant | NM_000787.4(DBH):c.921+16C>G | Orthostatic hypotension 1 [RCV003499135] | likely benign | 9 | 133643605 | 133643605 | Human | 1 | name , alternate_id |
| 11606909 | CV307375 | single nucleotide variant | NM_000787.4(DBH):c.486+13C>T | Orthostatic hypotension 1 [RCV000337149]|not provided [RCV001718787] | benign|likely benign | 9 | 133640005 | 133640005 | Human | 1 | name , alternate_id |
| 11610156 | CV307418 | single nucleotide variant | NM_000787.4(DBH):c.1722+4C>T | Orthostatic hypotension 1 [RCV000378048] | benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133657233 | 133657233 | Human | 1 | name , alternate_id |
| 405151448 | CV3123398 | single nucleotide variant | NM_000787.4(DBH):c.1335+9C>T | Orthostatic hypotension 1 [RCV003817631] | likely benign | 9 | 133651786 | 133651786 | Human | 1 | name , alternate_id |
| 11611322 | CV317190 | single nucleotide variant | NM_000787.4(DBH):c.486+15C>T | Orthostatic hypotension 1 [RCV000393532] | uncertain significance | 9 | 133640007 | 133640007 | Human | 1 | name , alternate_id |
| 11601105 | CV317212 | single nucleotide variant | NM_000787.4(DBH):c.1024+6C>G | Orthostatic hypotension 1 [RCV000279427]|not provided [RCV001595003] | benign | 9 | 133644326 | 133644326 | Human | 1 | name , alternate_id |
| 11609942 | CV317214 | single nucleotide variant | NM_000787.4(DBH):c.1025-6T>A | Orthostatic hypotension 1 [RCV000374973]|not provided [RCV000437872] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 133647840 | 133647840 | Human | 1 | name , alternate_id |
| 11600724 | CV317226 | single nucleotide variant | NM_000787.4(DBH):c.1563-5A>G | Orthostatic hypotension 1 [RCV000276266]|not provided [RCV001672719] | benign | 9 | 133657065 | 133657065 | Human | 1 | name , alternate_id |
| 11605093 | CV317595 | single nucleotide variant | NM_000787.4(DBH):c.1024+9C>T | DBH-related disorder [RCV003972542]|Orthostatic hypotension 1 [RCV000315668]|not provided [RCV001683448] | benign|likely benign | 9 | 133644329 | 133644329 | Human | 1 | name , trait , alternate_id |
| 11603288 | CV317608 | single nucleotide variant | NM_000787.4(DBH):c.1563-3C>T | Orthostatic hypotension 1 [RCV000298734] | uncertain significance | 9 | 133657067 | 133657067 | Human | 1 | name , alternate_id |
| 597849339 | CV3824421 | single nucleotide variant | NM_000787.4(DBH):c.1192-1G>A | Orthostatic hypotension 1 [RCV005173460] | likely pathogenic | 9 | 133651633 | 133651633 | Human | 1 | name , alternate_id |
| 597833272 | CV3831491 | single nucleotide variant | NM_000787.4(DBH):c.1375-8T>C | Orthostatic hypotension 1 [RCV005170693] | likely benign | 9 | 133652932 | 133652932 | Human | 1 | name , alternate_id |
| 597939493 | CV3836461 | single nucleotide variant | NM_000787.4(DBH):c.921+13C>T | Orthostatic hypotension 1 [RCV005187482] | likely benign | 9 | 133643602 | 133643602 | Human | 1 | name , alternate_id |
| 597944267 | CV3847843 | single nucleotide variant | NM_000787.4(DBH):c.340-14G>A | Orthostatic hypotension 1 [RCV005188572] | likely benign | 9 | 133639832 | 133639832 | Human | 1 | name , alternate_id |
| 597867204 | CV3861732 | single nucleotide variant | NM_000787.4(DBH):c.1025-4C>T | Orthostatic hypotension 1 [RCV005196873] | likely benign | 9 | 133647842 | 133647842 | Human | 1 | name , alternate_id |
| 15191098 | CV730618 | duplication | NM_000787.4(DBH):c.1723-5dup | not provided [RCV000888285] | likely benign | 9 | 133658309 | 133658310 | Human | | name |
| 15177619 | CV744456 | duplication | NM_000787.4(DBH):c.1563-6dup | Orthostatic hypotension 1 [RCV002537601] | likely benign | 9 | 133657060 | 133657061 | Human | 1 | name , alternate_id |
| 15142574 | CV759730 | single nucleotide variant | NM_000787.4(DBH):c.1562+8C>G | Orthostatic hypotension 1 [RCV003497904]|not provided [RCV004707482] | likely benign | 9 | 133656658 | 133656658 | Human | 1 | name , alternate_id |
| 28881512 | CV903348 | single nucleotide variant | NM_000787.4(DBH):c.1434+9C>T | Orthostatic hypotension 1 [RCV001167652] | uncertain significance | 9 | 133653008 | 133653008 | Human | 1 | name , alternate_id |
| 127266414 | CV1076178 | single nucleotide variant | NM_000787.4(DBH):c.1192-10G>A | Orthostatic hypotension 1 [RCV001403866] | likely benign | 9 | 133651624 | 133651624 | Human | 1 | name , alternate_id |
| 150497424 | CV1219404 | single nucleotide variant | NM_000787.4(DBH):c.1375-54G>A | not provided [RCV001620073] | benign | 9 | 133652886 | 133652886 | Human | | name |
| 150501734 | CV1224269 | single nucleotide variant | NM_000787.4(DBH):c.1435-85T>C | not provided [RCV001620910] | benign | 9 | 133656438 | 133656438 | Human | | name |
| 150516821 | CV1227260 | single nucleotide variant | NM_000787.4(DBH):c.1025-62G>A | not provided [RCV001639360] | benign | 9 | 133647784 | 133647784 | Human | | name |
| 150488035 | CV1237421 | single nucleotide variant | NM_000787.4(DBH):c.1024+72G>A | not provided [RCV001654270] | benign | 9 | 133644392 | 133644392 | Human | | name |
| 150458609 | CV1248961 | single nucleotide variant | NM_000787.4(DBH):c.486+127A>G | not provided [RCV001669138] | benign | 9 | 133640119 | 133640119 | Human | 3 | name |
| 150437529 | CV1249884 | single nucleotide variant | NM_000787.4(DBH):c.744+156A>G | not provided [RCV001665798] | benign | 9 | 133642620 | 133642620 | Human | | name |
| 150470305 | CV1259802 | single nucleotide variant | NM_000787.4(DBH):c.1435-48C>T | not provided [RCV001684104] | benign | 9 | 133656475 | 133656475 | Human | | name |
| 150438998 | CV1264908 | single nucleotide variant | NM_000787.4(DBH):c.1375-80G>A | not provided [RCV001678901] | benign | 9 | 133652860 | 133652860 | Human | | name |
| 150499126 | CV1270769 | single nucleotide variant | NM_000787.4(DBH):c.1722+75T>C | not provided [RCV001689318] | benign | 9 | 133657304 | 133657304 | Human | | name |
| 150498345 | CV1271495 | single nucleotide variant | NM_000787.4(DBH):c.339+109G>C | not provided [RCV001689185] | benign | 9 | 133636819 | 133636819 | Human | | name |
| 150450589 | CV1276489 | single nucleotide variant | NM_000787.4(DBH):c.1191+49T>C | not provided [RCV001708278] | benign | 9 | 133648061 | 133648061 | Human | | name |
| 150453344 | CV1276834 | single nucleotide variant | NM_000787.4(DBH):c.921+189T>G | not provided [RCV001708624] | benign | 9 | 133643778 | 133643778 | Human | | name |
| 150509302 | CV1284503 | single nucleotide variant | NM_000787.4(DBH):c.1191+69C>G | not provided [RCV001720611] | benign | 9 | 133648081 | 133648081 | Human | | name |
| 151741726 | CV1335523 | single nucleotide variant | NM_000787.4(DBH):c.1374+24T>G | Orthostatic hypotension 1 [RCV001845044] | not provided | 9 | 133652308 | 133652308 | Human | | name , alternate_id |
| 151890397 | CV1350520 | single nucleotide variant | NM_000787.4(DBH):c.1435-20G>A | Orthostatic hypotension 1 [RCV002038806] | likely benign|uncertain significance | 9 | 133656503 | 133656503 | Human | 1 | name , alternate_id |
| 152148934 | CV1545300 | single nucleotide variant | NM_000787.4(DBH):c.1434+14G>A | Orthostatic hypotension 1 [RCV002121472] | likely benign | 9 | 133653013 | 133653013 | Human | 1 | name , alternate_id |
| 152164187 | CV1557520 | single nucleotide variant | NM_000787.4(DBH):c.1335+17C>G | Orthostatic hypotension 1 [RCV002141469] | likely benign | 9 | 133651794 | 133651794 | Human | 1 | name , alternate_id |
| 152152267 | CV1565134 | single nucleotide variant | NM_000787.4(DBH):c.1435-18G>A | Orthostatic hypotension 1 [RCV002102408] | likely benign | 9 | 133656505 | 133656505 | Human | 1 | name , alternate_id |
| 152084060 | CV1576954 | deletion | NM_000787.4(DBH):c.1374+16del | Orthostatic hypotension 1 [RCV002193398] | benign | 9 | 133652298 | 133652298 | Human | 1 | name , alternate_id |
| 152088674 | CV1577238 | single nucleotide variant | NM_000787.4(DBH):c.1191+19G>A | Orthostatic hypotension 1 [RCV002212419] | likely benign | 9 | 133648031 | 133648031 | Human | 1 | name , alternate_id |
| 152090064 | CV1580760 | single nucleotide variant | NM_000787.4(DBH):c.1335+16C>T | Orthostatic hypotension 1 [RCV002094045] | likely benign | 9 | 133651793 | 133651793 | Human | 1 | name , alternate_id |
| 152043182 | CV1581563 | single nucleotide variant | NM_000787.4(DBH):c.1723-12C>A | Orthostatic hypotension 1 [RCV002071282] | likely benign | 9 | 133658304 | 133658304 | Human | 1 | name , alternate_id |
| 152063958 | CV1612180 | single nucleotide variant | NM_000787.4(DBH):c.1435-19G>T | Orthostatic hypotension 1 [RCV002128705] | likely benign | 9 | 133656504 | 133656504 | Human | 1 | name , alternate_id |
| 156194349 | CV1889427 | single nucleotide variant | NM_000787.4(DBH):c.1435-14C>T | Orthostatic hypotension 1 [RCV003083981] | likely benign | 9 | 133656509 | 133656509 | Human | 1 | name , alternate_id |
| 156187756 | CV1919407 | single nucleotide variant | NM_000787.4(DBH):c.1336-17G>A | Orthostatic hypotension 1 [RCV002595272] | uncertain significance | 9 | 133652229 | 133652229 | Human | 1 | name , alternate_id |
| 156418583 | CV1922356 | single nucleotide variant | NM_000787.4(DBH):c.1722+18C>T | Orthostatic hypotension 1 [RCV002611782] | likely benign | 9 | 133657247 | 133657247 | Human | 1 | name , alternate_id |
| 156396124 | CV1924770 | single nucleotide variant | NM_000787.4(DBH):c.1024+19A>G | Orthostatic hypotension 1 [RCV002654926] | likely benign | 9 | 133644339 | 133644339 | Human | 1 | name , alternate_id |
| 156291735 | CV1929406 | single nucleotide variant | NM_000787.4(DBH):c.1191+10G>A | Orthostatic hypotension 1 [RCV002647226] | likely benign | 9 | 133648022 | 133648022 | Human | 1 | name , alternate_id |
| 156289446 | CV2047141 | single nucleotide variant | NM_000787.4(DBH):c.1191+18C>T | Orthostatic hypotension 1 [RCV002770705] | likely benign | 9 | 133648030 | 133648030 | Human | 1 | name , alternate_id |
| 155957277 | CV2087068 | single nucleotide variant | NM_000787.4(DBH):c.1435-20G>C | Orthostatic hypotension 1 [RCV002862675] | likely benign | 9 | 133656503 | 133656503 | Human | 1 | name , alternate_id |
| 156144951 | CV2117996 | single nucleotide variant | NM_000787.4(DBH):c.1336-18C>T | Orthostatic hypotension 1 [RCV002928697] | likely benign | 9 | 133652228 | 133652228 | Human | 1 | name , alternate_id |
| 405105206 | CV2860711 | single nucleotide variant | NM_000787.4(DBH):c.1375-15T>C | Orthostatic hypotension 1 [RCV003498065] | likely benign | 9 | 133652925 | 133652925 | Human | 1 | name , alternate_id |
| 405020255 | CV2961992 | single nucleotide variant | NM_000787.4(DBH):c.1434+10C>A | Orthostatic hypotension 1 [RCV003600810] | likely benign | 9 | 133653009 | 133653009 | Human | 1 | name , alternate_id |
| 405027760 | CV2968328 | single nucleotide variant | NM_000787.4(DBH):c.1336-11G>T | Orthostatic hypotension 1 [RCV003601499] | likely benign | 9 | 133652235 | 133652235 | Human | 1 | name , alternate_id |
| 405014799 | CV3037795 | single nucleotide variant | NM_000787.4(DBH):c.1722+11A>G | Orthostatic hypotension 1 [RCV003600146] | likely benign | 9 | 133657240 | 133657240 | Human | 1 | name , alternate_id |
| 405022091 | CV3054799 | single nucleotide variant | NM_000787.4(DBH):c.1722+15G>C | Orthostatic hypotension 1 [RCV003600914] | likely benign | 9 | 133657244 | 133657244 | Human | 1 | name , alternate_id |
| 405023987 | CV3065065 | single nucleotide variant | NM_000787.4(DBH):c.1723-18C>T | Orthostatic hypotension 1 [RCV003601181] | likely benign | 9 | 133658298 | 133658298 | Human | 1 | name , alternate_id |
| 405094765 | CV3118994 | single nucleotide variant | NM_000787.4(DBH):c.1335+11G>A | Orthostatic hypotension 1 [RCV003811445] | likely benign | 9 | 133651788 | 133651788 | Human | 1 | name , alternate_id |
| 405186000 | CV3124329 | single nucleotide variant | NM_000787.4(DBH):c.1375-17C>T | Orthostatic hypotension 1 [RCV003820528] | likely benign | 9 | 133652923 | 133652923 | Human | 1 | name , alternate_id |
| 405052426 | CV3151253 | single nucleotide variant | NM_000787.4(DBH):c.1375-19C>A | Orthostatic hypotension 1 [RCV003849662] | likely benign | 9 | 133652921 | 133652921 | Human | 1 | name , alternate_id |
| 402468283 | CV3174298 | single nucleotide variant | NM_000787.4(DBH):c.1563-18G>A | Orthostatic hypotension 1 [RCV003873581] | likely benign | 9 | 133657052 | 133657052 | Human | 1 | name , alternate_id |
| 405254560 | CV3175410 | single nucleotide variant | NM_000787.4(DBH):c.1192-16C>T | Orthostatic hypotension 1 [RCV003871677] | likely benign | 9 | 133651618 | 133651618 | Human | 1 | name , alternate_id |
| 11607637 | CV317597 | single nucleotide variant | NM_000787.4(DBH):c.1335+13A>G | Orthostatic hypotension 1 [RCV000345841]|not provided [RCV001672718] | benign | 9 | 133651790 | 133651790 | Human | 1 | name , alternate_id |
| 405251965 | CV3177541 | single nucleotide variant | NM_000787.4(DBH):c.1374+14G>A | Orthostatic hypotension 1 [RCV003870499] | likely benign | 9 | 133652298 | 133652298 | Human | 1 | name , alternate_id |
| 597919698 | CV3737991 | single nucleotide variant | NM_000787.4(DBH):c.1722+19G>A | Orthostatic hypotension 1 [RCV005074590] | likely benign | 9 | 133657248 | 133657248 | Human | 1 | name , alternate_id |
| 597831232 | CV3739951 | single nucleotide variant | NM_000787.4(DBH):c.1562+20G>C | Orthostatic hypotension 1 [RCV005062649] | likely benign | 9 | 133656670 | 133656670 | Human | 1 | name , alternate_id |
| 597936826 | CV3759852 | single nucleotide variant | NM_000787.4(DBH):c.1191+16C>G | Orthostatic hypotension 1 [RCV005076774] | likely benign | 9 | 133648028 | 133648028 | Human | 1 | name , alternate_id |
| 597900615 | CV3796582 | single nucleotide variant | NM_000787.4(DBH):c.1025-15C>T | Orthostatic hypotension 1 [RCV005152665] | likely benign | 9 | 133647831 | 133647831 | Human | 1 | name , alternate_id |
| 28874856 | CV903349 | single nucleotide variant | NM_000787.4(DBH):c.1722+13G>T | Orthostatic hypotension 1 [RCV001165540] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 133657242 | 133657242 | Human | 1 | name , alternate_id |
| 150509403 | CV1229880 | single nucleotide variant | NM_000787.4(DBH):c.1336-217C>G | not provided [RCV001636460] | benign | 9 | 133652029 | 133652029 | Human | | name |
| 150433421 | CV1230520 | single nucleotide variant | NM_000787.4(DBH):c.1024+192T>C | not provided [RCV001643465] | benign | 9 | 133644512 | 133644512 | Human | | name |
| 150462014 | CV1234852 | duplication | NM_000787.4(DBH):c.1722+202dup | not provided [RCV001649434] | benign | 9 | 133657430 | 133657431 | Human | | name |
| 150495104 | CV1241513 | single nucleotide variant | NM_000787.4(DBH):c.1335+110T>C | not provided [RCV001655520] | benign | 9 | 133651887 | 133651887 | Human | | name |
| 150506082 | CV1242126 | single nucleotide variant | NM_000787.4(DBH):c.1336-222A>C | not provided [RCV001658479] | benign | 9 | 133652024 | 133652024 | Human | | name |
| 150511309 | CV1242674 | single nucleotide variant | NM_000787.4(DBH):c.1024+237C>G | not provided [RCV001661026] | benign | 9 | 133644557 | 133644557 | Human | | name |
| 150446636 | CV1250694 | single nucleotide variant | NM_000787.4(DBH):c.1335+223G>A | not provided [RCV001667199] | benign | 9 | 133652000 | 133652000 | Human | | name |
| 150500561 | CV1256122 | single nucleotide variant | NM_000787.4(DBH):c.1024+179C>T | not provided [RCV001676746] | benign | 9 | 133644499 | 133644499 | Human | | name |
| 150482019 | CV1261548 | single nucleotide variant | NM_000787.4(DBH):c.1336-219A>G | not provided [RCV001686151] | benign | 9 | 133652027 | 133652027 | Human | | name |
| 150461122 | CV1270609 | single nucleotide variant | NM_000787.4(DBH):c.1192-181G>A | not provided [RCV001693599] | benign | 9 | 133651453 | 133651453 | Human | | name |
| 150495362 | CV1272614 | single nucleotide variant | NM_000787.4(DBH):c.1192-186C>A | not provided [RCV001688537] | benign | 9 | 133651448 | 133651448 | Human | | name |
| 150509441 | CV1284538 | single nucleotide variant | NM_000787.4(DBH):c.1024+146C>T | not provided [RCV001720646] | benign | 9 | 133644466 | 133644466 | Human | | name |
| 11646779 | CV317641 | deletion | NM_000787.4(DBH):c.*565_*566del | Orthostatic hypotension 1 [RCV000272865] | uncertain significance | 9 | 133659011 | 133659012 | Human | 1 | name , alternate_id |
| 151868047 | CV1348790 | deletion | NM_000787.4(DBH):c.1191+6_1191+9del | Orthostatic hypotension 1 [RCV001924851] | uncertain significance | 9 | 133648017 | 133648020 | Human | 1 | name , alternate_id |
| 156333849 | CV1966700 | single nucleotide variant | NM_000787.4(DBH):c.87C>T (p.Phe29=) | Orthostatic hypotension 1 [RCV002600932] | likely benign | 9 | 133636458 | 133636458 | Human | 1 | name , alternate_id |
| 155995518 | CV2147951 | deletion | NM_000787.4(DBH):c.745-14_745-13del | Orthostatic hypotension 1 [RCV003017034] | uncertain significance | 9 | 133643399 | 133643400 | Human | 1 | name , alternate_id |
| 156297486 | CV2328909 | single nucleotide variant | NM_000787.4(DBH):c.7G>T (p.Ala3Ser) | Inborn genetic diseases [RCV002936085] | uncertain significance | 9 | 133636378 | 133636378 | Human | 1 | name |
| 405031975 | CV3073320 | single nucleotide variant | NM_000787.4(DBH):c.33C>T (p.Pro11=) | Orthostatic hypotension 1 [RCV003601848] | likely benign | 9 | 133636404 | 133636404 | Human | 1 | name , alternate_id |
| 15147037 | CV736986 | single nucleotide variant | NM_000787.4(DBH):c.88C>T (p.Leu30=) | Orthostatic hypotension 1 [RCV005092673] | likely benign | 9 | 133636459 | 133636459 | Human | 1 | name , alternate_id |
| 151854878 | CV1481878 | single nucleotide variant | NM_000787.4(DBH):c.26G>A (p.Ser9Asn) | Orthostatic hypotension 1 [RCV002033649] | uncertain significance | 9 | 133636397 | 133636397 | Human | 1 | name , alternate_id |
| 151760324 | CV1497193 | single nucleotide variant | NM_000787.4(DBH):c.231G>A (p.Leu77=) | Orthostatic hypotension 1 [RCV001987188] | likely benign|uncertain significance | 9 | 133636602 | 133636602 | Human | 1 | name , alternate_id |
| 152133146 | CV1557424 | single nucleotide variant | NM_000787.4(DBH):c.228C>G (p.Leu76=) | Orthostatic hypotension 1 [RCV002137197] | likely benign | 9 | 133636599 | 133636599 | Human | 1 | name , alternate_id |
| 152030124 | CV1566014 | single nucleotide variant | NM_000787.4(DBH):c.120G>A (p.Ser40=) | Orthostatic hypotension 1 [RCV002086038] | likely benign | 9 | 133636491 | 133636491 | Human | 1 | name , alternate_id |
| 152147649 | CV1576778 | single nucleotide variant | NM_000787.4(DBH):c.204C>A (p.Thr68=) | Orthostatic hypotension 1 [RCV002178966] | likely benign | 9 | 133636575 | 133636575 | Human | 1 | name , alternate_id |
| 152036710 | CV1646016 | single nucleotide variant | NM_000787.4(DBH):c.270C>T (p.Ser90=) | Orthostatic hypotension 1 [RCV002205709] | likely benign | 9 | 133636641 | 133636641 | Human | 1 | name , alternate_id |
| 156374687 | CV1871757 | single nucleotide variant | NM_000787.4(DBH):c.237G>A (p.Arg79=) | Orthostatic hypotension 1 [RCV003066607] | likely benign | 9 | 133636608 | 133636608 | Human | 1 | name , alternate_id |
| 155962505 | CV1881681 | single nucleotide variant | NM_000787.4(DBH):c.279C>T (p.Gly93=) | Orthostatic hypotension 1 [RCV003074761] | likely benign | 9 | 133636650 | 133636650 | Human | 1 | name , alternate_id |
| 156185571 | CV1933792 | single nucleotide variant | NM_000787.4(DBH):c.183C>T (p.Leu61=) | Orthostatic hypotension 1 [RCV002625187] | likely benign | 9 | 133636554 | 133636554 | Human | 1 | name , alternate_id |
| 156218056 | CV1995557 | single nucleotide variant | NM_000787.4(DBH):c.10C>T (p.Leu4Phe) | Orthostatic hypotension 1 [RCV002667116] | uncertain significance | 9 | 133636381 | 133636381 | Human | 1 | name , alternate_id |
| 11605608 | CV311661 | single nucleotide variant | NM_000787.4(DBH):c.105C>T (p.Ala35=) | Orthostatic hypotension 1 [RCV000321607] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133636476 | 133636476 | Human | 1 | name , alternate_id |
| 597944081 | CV3754944 | single nucleotide variant | NM_000787.4(DBH):c.186A>G (p.Ser62=) | Orthostatic hypotension 1 [RCV005078133] | likely benign | 9 | 133636557 | 133636557 | Human | 1 | name , alternate_id |
| 597932551 | CV3812749 | single nucleotide variant | NM_000787.4(DBH):c.138C>T (p.Pro46=) | Orthostatic hypotension 1 [RCV005157281] | likely benign | 9 | 133636509 | 133636509 | Human | 1 | name , alternate_id |
| 15099114 | CV723420 | single nucleotide variant | NM_000787.4(DBH):c.165G>A (p.Pro55=) | Orthostatic hypotension 1 [RCV001169430] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133636536 | 133636536 | Human | 1 | name , alternate_id |
| 15168901 | CV751521 | single nucleotide variant | NM_000787.4(DBH):c.291C>T (p.Asn97=) | Orthostatic hypotension 1 [RCV000927390] | likely benign|conflicting interpretations of pathogenicity | 9 | 133636662 | 133636662 | Human | 1 | name , alternate_id |
| 28885069 | CV901439 | single nucleotide variant | NM_000787.4(DBH):c.16C>A (p.Arg6Ser) | Orthostatic hypotension 1 [RCV001168665] | uncertain significance | 9 | 133636387 | 133636387 | Human | 1 | name , alternate_id |
| 38485817 | CV925464 | single nucleotide variant | NM_000787.4(DBH):c.17G>A (p.Arg6His) | Inborn genetic diseases [RCV002562493]|Orthostatic hypotension 1 [RCV001220018] | uncertain significance | 9 | 133636388 | 133636388 | Human | 2 | name , alternate_id |
| 127242932 | CV1076177 | single nucleotide variant | NM_000787.4(DBH):c.789C>T (p.His263=) | Orthostatic hypotension 1 [RCV001398265] | likely benign | 9 | 133643457 | 133643457 | Human | 1 | name , alternate_id |
| 127296442 | CV1119439 | single nucleotide variant | NM_000787.4(DBH):c.888C>G (p.Arg296=) | Orthostatic hypotension 1 [RCV001477345] | likely benign | 9 | 133643556 | 133643556 | Human | 1 | name , alternate_id |
| 127286606 | CV1140265 | single nucleotide variant | NM_000787.4(DBH):c.558G>A (p.Ser186=) | Orthostatic hypotension 1 [RCV001494461] | likely benign | 9 | 133642278 | 133642278 | Human | 1 | name , alternate_id |
| 127327791 | CV1140266 | single nucleotide variant | NM_000787.4(DBH):c.606C>T (p.Ile202=) | Orthostatic hypotension 1 [RCV001486481] | likely benign | 9 | 133642326 | 133642326 | Human | 1 | name , alternate_id |
| 150514244 | CV1210932 | microsatellite | NM_000787.4(DBH):c.1335+164GGTGTCT[3] | not provided [RCV001598975] | benign | 9 | 133651940 | 133651941 | Human | | name |
| 151787865 | CV1412916 | single nucleotide variant | NM_000787.4(DBH):c.339G>A (p.Ala113=) | Orthostatic hypotension 1 [RCV001989775] | uncertain significance | 9 | 133636710 | 133636710 | Human | 1 | name , alternate_id |
| 151875041 | CV1418998 | single nucleotide variant | NM_000787.4(DBH):c.47G>A (p.Arg16Gln) | Orthostatic hypotension 1 [RCV001906961] | uncertain significance | 9 | 133636418 | 133636418 | Human | 1 | name , alternate_id |
| 151760174 | CV1504048 | single nucleotide variant | NM_000787.4(DBH):c.62T>C (p.Met21Thr) | Orthostatic hypotension 1 [RCV002007764] | uncertain significance | 9 | 133636433 | 133636433 | Human | 1 | name , alternate_id |
| 152110570 | CV1519542 | single nucleotide variant | NM_000787.4(DBH):c.927T>C (p.Phe309=) | Orthostatic hypotension 1 [RCV002152998] | likely benign | 9 | 133644223 | 133644223 | Human | 1 | name , alternate_id |
| 152091263 | CV1528695 | single nucleotide variant | NM_000787.4(DBH):c.663C>T (p.Ile221=) | Orthostatic hypotension 1 [RCV002094211] | likely benign | 9 | 133642383 | 133642383 | Human | 1 | name , alternate_id |
| 152174440 | CV1567109 | single nucleotide variant | NM_000787.4(DBH):c.462C>T (p.Cys154=) | Orthostatic hypotension 1 [RCV002163159] | likely benign | 9 | 133639968 | 133639968 | Human | 1 | name , alternate_id |
| 152086630 | CV1573933 | single nucleotide variant | NM_000787.4(DBH):c.489C>T (p.Asp163=) | Orthostatic hypotension 1 [RCV002150019] | likely benign | 9 | 133642209 | 133642209 | Human | 1 | name , alternate_id |
| 152047487 | CV1580391 | single nucleotide variant | NM_000787.4(DBH):c.825C>T (p.Ser275=) | Orthostatic hypotension 1 [RCV002166443] | likely benign | 9 | 133643493 | 133643493 | Human | 1 | name , alternate_id |
| 152044872 | CV1584480 | single nucleotide variant | NM_000787.4(DBH):c.585G>A (p.Val195=) | Orthostatic hypotension 1 [RCV002071477] | likely benign | 9 | 133642305 | 133642305 | Human | 1 | name , alternate_id |
| 152163535 | CV1604861 | single nucleotide variant | NM_000787.4(DBH):c.408G>A (p.Val136=) | Orthostatic hypotension 1 [RCV002203845] | likely benign | 9 | 133639914 | 133639914 | Human | 1 | name , alternate_id |
| 152105402 | CV1622890 | single nucleotide variant | NM_000787.4(DBH):c.528G>A (p.Pro176=) | Orthostatic hypotension 1 [RCV002214737] | likely benign | 9 | 133642248 | 133642248 | Human | 1 | name , alternate_id |
| 152039847 | CV1644016 | single nucleotide variant | NM_000787.4(DBH):c.300C>T (p.Leu100=) | Orthostatic hypotension 1 [RCV002125925] | likely benign | 9 | 133636671 | 133636671 | Human | 1 | name , alternate_id |
| 156386327 | CV1894069 | single nucleotide variant | NM_000787.4(DBH):c.630C>T (p.Asp210=) | Orthostatic hypotension 1 [RCV003093717] | likely benign | 9 | 133642350 | 133642350 | Human | 1 | name , alternate_id |
| 156408305 | CV1911554 | single nucleotide variant | NM_000787.4(DBH):c.726T>C (p.Ser242=) | Orthostatic hypotension 1 [RCV002607187] | likely benign | 9 | 133642446 | 133642446 | Human | 1 | name , alternate_id |
| 156416990 | CV1919182 | single nucleotide variant | NM_000787.4(DBH):c.609C>T (p.Pro203=) | Orthostatic hypotension 1 [RCV002610469] | likely benign | 9 | 133642329 | 133642329 | Human | 1 | name , alternate_id |
| 156381299 | CV1928414 | duplication | NM_000787.4(DBH):c.1191+24_1191+28dup | Orthostatic hypotension 1 [RCV002634292] | likely benign | 9 | 133648031 | 133648032 | Human | 1 | name , alternate_id |
| 156438971 | CV1943828 | single nucleotide variant | NM_000787.4(DBH):c.813C>T (p.Pro271=) | Orthostatic hypotension 1 [RCV003108922] | likely benign | 9 | 133643481 | 133643481 | Human | 1 | name , alternate_id |
| 155928691 | CV2041645 | single nucleotide variant | NM_000787.4(DBH):c.468C>T (p.Pro156=) | Orthostatic hypotension 1 [RCV002751049] | likely benign | 9 | 133639974 | 133639974 | Human | 1 | name , alternate_id |
| 156201343 | CV2110062 | single nucleotide variant | NM_000787.4(DBH):c.846C>T (p.Pro282=) | Orthostatic hypotension 1 [RCV002957390] | likely benign | 9 | 133643514 | 133643514 | Human | 1 | name , alternate_id |
| 156001026 | CV2122865 | single nucleotide variant | NM_000787.4(DBH):c.573G>A (p.Gly191=) | Orthostatic hypotension 1 [RCV002975179] | likely benign | 9 | 133642293 | 133642293 | Human | 1 | name , alternate_id |
| 155948935 | CV2132949 | single nucleotide variant | NM_000787.4(DBH):c.981T>C (p.Tyr327=) | Orthostatic hypotension 1 [RCV002994514] | likely benign | 9 | 133644277 | 133644277 | Human | 1 | name , alternate_id |
| 156044685 | CV2143634 | single nucleotide variant | NM_000787.4(DBH):c.342C>T (p.Asp114=) | Orthostatic hypotension 1 [RCV002999663] | likely benign | 9 | 133639848 | 133639848 | Human | 1 | name , alternate_id |
| 10448399 | CV214410 | single nucleotide variant | NM_000787.4(DBH):c.486A>G (p.Glu162=) | Orthostatic hypotension 1 [RCV000201821]|not provided [RCV001682914]|not specified [RCV001529259] | benign | 9 | 133639992 | 133639992 | Human | 2 | name , alternate_id |
| 10448399 | CV214410 | single nucleotide variant | NM_000787.4(DBH):c.486A>G (p.Glu162=) | Orthostatic hypotension 1 [RCV000201821]|not provided [RCV001682914]|not specified [RCV001529259] | benign | 9 | 133639992 | 133639993 | Human | 2 | name , alternate_id |
| 405113539 | CV2882883 | microsatellite | NM_000787.4(DBH):c.1024+25_1024+27del | Orthostatic hypotension 1 [RCV003499730] | likely benign | 9 | 133644340 | 133644342 | Human | | name , alternate_id |
| 405107413 | CV2921090 | single nucleotide variant | NM_000787.4(DBH):c.429G>C (p.Leu143=) | Orthostatic hypotension 1 [RCV003498550] | likely benign | 9 | 133639935 | 133639935 | Human | 1 | name , alternate_id |
| 405022419 | CV3056174 | single nucleotide variant | NM_000787.4(DBH):c.615G>A (p.Pro205=) | Orthostatic hypotension 1 [RCV003601008] | likely benign | 9 | 133642335 | 133642335 | Human | 1 | name , alternate_id |
| 11608679 | CV307402 | single nucleotide variant | NM_000787.4(DBH):c.735C>T (p.His245=) | Orthostatic hypotension 1 [RCV000358218]|not provided [RCV004718601] | benign|likely benign | 9 | 133642455 | 133642455 | Human | 1 | name , alternate_id |
| 11660739 | CV307406 | single nucleotide variant | NM_000787.4(DBH):c.852C>T (p.Asp284=) | Orthostatic hypotension 1 [RCV000369952] | uncertain significance | 9 | 133643520 | 133643520 | Human | 1 | name , alternate_id |
| 11606062 | CV311665 | single nucleotide variant | NM_000787.4(DBH):c.849C>T (p.Cys283=) | Orthostatic hypotension 1 [RCV000326872] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133643517 | 133643517 | Human | 1 | name , alternate_id |
| 11644824 | CV311694 | insertion | NM_000787.4(DBH):c.*389_*390insACCCCC | Orthostatic hypotension 1 [RCV000262108] | uncertain significance | 9 | 133658835 | 133658836 | Human | 1 | name , alternate_id |
| 405179884 | CV3147410 | single nucleotide variant | NM_000787.4(DBH):c.532C>A (p.Arg178=) | Orthostatic hypotension 1 [RCV003842312] | likely benign | 9 | 133642252 | 133642252 | Human | 1 | name , alternate_id |
| 405218797 | CV3161347 | single nucleotide variant | NM_000787.4(DBH):c.62T>G (p.Met21Arg) | Orthostatic hypotension 1 [RCV003863216] | uncertain significance | 9 | 133636433 | 133636433 | Human | 1 | name , alternate_id |
| 402472259 | CV3171626 | single nucleotide variant | NM_000787.4(DBH):c.633G>A (p.Ala211=) | Orthostatic hypotension 1 [RCV003874410] | likely benign | 9 | 133642353 | 133642353 | Human | 1 | name , alternate_id |
| 11606601 | CV317186 | single nucleotide variant | NM_000787.4(DBH):c.363G>A (p.Gly121=) | Orthostatic hypotension 1 [RCV000333589] | uncertain significance | 9 | 133639869 | 133639869 | Human | 1 | name , alternate_id |
| 11599894 | CV317198 | single nucleotide variant | NM_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 significance | 9 | 133643475 | 133643475 | Human | 1 | name , trait , alternate_id |
| 11604439 | CV317592 | single nucleotide variant | NM_000787.4(DBH):c.747C>T (p.Tyr249=) | Orthostatic hypotension 1 [RCV000309245]|not provided [RCV003430962] | benign|likely benign | 9 | 133643415 | 133643415 | Human | 1 | name , alternate_id |
| 402487939 | CV3181853 | single nucleotide variant | NM_000787.4(DBH):c.777C>A (p.Ala259=) | Orthostatic hypotension 1 [RCV003876522] | likely benign | 9 | 133643445 | 133643445 | Human | 1 | name , alternate_id |
| 597905942 | CV3804004 | single nucleotide variant | NM_000787.4(DBH):c.450C>A (p.Pro150=) | Orthostatic hypotension 1 [RCV005153550] | likely benign | 9 | 133639956 | 133639956 | Human | 1 | name , alternate_id |
| 597962533 | CV3841013 | deletion | NM_000787.4(DBH):c.1562+16_1562+28del | Orthostatic hypotension 1 [RCV005193306] | likely benign | 9 | 133656657 | 133656669 | Human | 1 | name , alternate_id |
| 597905835 | CV3853184 | single nucleotide variant | NM_000787.4(DBH):c.333T>C (p.Tyr111=) | Orthostatic hypotension 1 [RCV005202841] | likely benign | 9 | 133636704 | 133636704 | Human | 1 | name , alternate_id |
| 15109032 | CV711829 | single nucleotide variant | NM_000787.4(DBH):c.76G>A (p.Val26Met) | Orthostatic hypotension 1 [RCV000960610]|not provided [RCV003883513] | benign | 9 | 133636447 | 133636447 | Human | 1 | name , alternate_id |
| 15182852 | CV711830 | single nucleotide variant | NM_000787.4(DBH):c.315C>T (p.Thr105=) | Orthostatic hypotension 1 [RCV001520101]|not provided [RCV004718804] | benign | 9 | 133636686 | 133636686 | Human | 1 | name , alternate_id |
| 15182934 | CV711831 | single nucleotide variant | NM_000787.4(DBH):c.933C>T (p.Tyr311=) | DBH-related disorder [RCV004757358]|Orthostatic hypotension 1 [RCV000974756]|not provided [RCV004597940] | benign|likely benign | 9 | 133644229 | 133644229 | Human | 1 | name , trait , alternate_id |
| 15186449 | CV723422 | single nucleotide variant | NM_000787.4(DBH):c.354C>T (p.Asp118=) | Orthostatic hypotension 1 [RCV000886979] | likely benign|conflicting interpretations of pathogenicity | 9 | 133639860 | 133639860 | Human | 1 | name , alternate_id |
| 15172673 | CV723423 | single nucleotide variant | NM_000787.4(DBH):c.381C>T (p.Pro127=) | Orthostatic hypotension 1 [RCV001411724] | likely benign | 9 | 133639887 | 133639887 | Human | 1 | name , alternate_id |
| 15165177 | CV723424 | single nucleotide variant | NM_000787.4(DBH):c.552C>T (p.Asn184=) | Orthostatic hypotension 1 [RCV000882356] | benign | 9 | 133642272 | 133642272 | Human | 1 | name , alternate_id |
| 15165611 | CV723425 | single nucleotide variant | NM_000787.4(DBH):c.624C>T (p.Pro208=) | DBH-related disorder [RCV003975549]|Orthostatic hypotension 1 [RCV001167014] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133642344 | 133642344 | Human | 1 | name , trait , alternate_id |
| 15163337 | CV751523 | single nucleotide variant | NM_000787.4(DBH):c.945C>T (p.Ala315=) | Orthostatic hypotension 1 [RCV001469316] | likely benign | 9 | 133644241 | 133644241 | Human | 1 | name , alternate_id |
| 28885072 | CV901440 | single nucleotide variant | NM_000787.4(DBH):c.61A>G (p.Met21Val) | Orthostatic hypotension 1 [RCV001168666] | uncertain significance | 9 | 133636432 | 133636432 | Human | 1 | name , alternate_id |
| 28877592 | CV901443 | single nucleotide variant | NM_000787.4(DBH):c.450C>T (p.Pro150=) | Orthostatic hypotension 1 [RCV001166488] | uncertain significance | 9 | 133639956 | 133639956 | Human | 1 | name , alternate_id |
| 127243750 | CV1076176 | single nucleotide variant | NM_000787.4(DBH):c.209A>G (p.Glu70Gly) | Orthostatic hypotension 1 [RCV001393584] | likely benign | 9 | 133636580 | 133636580 | Human | 1 | name , alternate_id |
| 127278177 | CV1097856 | single nucleotide variant | NM_000787.4(DBH):c.1116G>A (p.Thr372=) | DBH-related disorder [RCV003900529]|Orthostatic hypotension 1 [RCV001444875] | likely benign | 9 | 133647937 | 133647937 | Human | 1 | name , trait , alternate_id |
| 127314135 | CV1140267 | single nucleotide variant | NM_000787.4(DBH):c.1602C>T (p.Ser534=) | Orthostatic hypotension 1 [RCV001482151] | likely benign | 9 | 133657109 | 133657109 | Human | 1 | name , alternate_id |
| 151814078 | CV1366526 | single nucleotide variant | NM_000787.4(DBH):c.1374G>A (p.Pro458=) | Orthostatic hypotension 1 [RCV001933491] | uncertain significance | 9 | 133652284 | 133652284 | Human | 1 | name , alternate_id |
| 151727715 | CV1412819 | single nucleotide variant | NM_000787.4(DBH):c.106G>A (p.Ala36Thr) | Orthostatic hypotension 1 [RCV001945728] | uncertain significance | 9 | 133636477 | 133636477 | Human | 1 | name , alternate_id |
| 151844374 | CV1415477 | single nucleotide variant | NM_000787.4(DBH):c.271G>A (p.Asp91Asn) | Inborn genetic diseases [RCV002560456]|Orthostatic hypotension 1 [RCV001957144] | uncertain significance | 9 | 133636642 | 133636642 | Human | 2 | name , alternate_id |
| 151757483 | CV1459764 | single nucleotide variant | NM_000787.4(DBH):c.274C>T (p.Arg92Cys) | Inborn genetic diseases [RCV003264378]|Orthostatic hypotension 1 [RCV001986898] | uncertain significance | 9 | 133636645 | 133636645 | Human | 2 | name , alternate_id |
| 151779878 | CV1497051 | single nucleotide variant | NM_000787.4(DBH):c.245A>G (p.Lys82Arg) | Orthostatic hypotension 1 [RCV001930335] | uncertain significance | 9 | 133636616 | 133636616 | Human | 1 | name , alternate_id |
| 151872719 | CV1513501 | single nucleotide variant | NM_000787.4(DBH):c.1086G>A (p.Ala362=) | Orthostatic hypotension 1 [RCV001940024] | likely benign|uncertain significance | 9 | 133647907 | 133647907 | Human | 1 | name , alternate_id |
| 152141434 | CV1520666 | single nucleotide variant | NM_000787.4(DBH):c.1671C>T (p.Ser557=) | DBH-related disorder [RCV003950914]|Orthostatic hypotension 1 [RCV002178110] | likely benign | 9 | 133657178 | 133657178 | Human | 1 | name , trait , alternate_id |
| 152082510 | CV1548463 | single nucleotide variant | NM_000787.4(DBH):c.1524C>T (p.Asp508=) | Orthostatic hypotension 1 [RCV002076559]|not provided [RCV004706372] | likely benign | 9 | 133656612 | 133656612 | Human | 1 | name , alternate_id |
| 152116140 | CV1554118 | single nucleotide variant | NM_000787.4(DBH):c.1765C>T (p.Leu589=) | Orthostatic hypotension 1 [RCV002117216] | likely benign | 9 | 133658358 | 133658358 | Human | 1 | name , alternate_id |
| 152061655 | CV1585325 | single nucleotide variant | NM_000787.4(DBH):c.1152C>T (p.Phe384=) | Orthostatic hypotension 1 [RCV002073749] | likely benign | 9 | 133647973 | 133647973 | Human | 1 | name , alternate_id |
| 152062762 | CV1612501 | single nucleotide variant | NM_000787.4(DBH):c.1701G>A (p.Lys567=) | Orthostatic hypotension 1 [RCV002168208] | likely benign | 9 | 133657208 | 133657208 | Human | 1 | name , alternate_id |
| 152043702 | CV1624436 | single nucleotide variant | NM_000787.4(DBH):c.1662C>T (p.Ala554=) | Orthostatic hypotension 1 [RCV002126415] | likely benign | 9 | 133657169 | 133657169 | Human | 1 | name , alternate_id |
| 152097034 | CV1636511 | single nucleotide variant | NM_000787.4(DBH):c.1032C>T (p.Asn344=) | Orthostatic hypotension 1 [RCV002132769] | likely benign | 9 | 133647853 | 133647853 | Human | 1 | name , alternate_id |
| 152115471 | CV1641154 | single nucleotide variant | NM_000787.4(DBH):c.1527C>T (p.Ala509=) | Orthostatic hypotension 1 [RCV002117125]|not provided [RCV004706338] | likely benign | 9 | 133656615 | 133656615 | Human | 1 | name , alternate_id |
| 152049080 | CV1656983 | single nucleotide variant | NM_000787.4(DBH):c.1227T>A (p.Ser409=) | Orthostatic hypotension 1 [RCV002189174] | likely benign | 9 | 133651669 | 133651669 | Human | 1 | name , alternate_id |
| 152068674 | CV1662326 | single nucleotide variant | NM_000787.4(DBH):c.1494G>A (p.Thr498=) | Orthostatic hypotension 1 [RCV002111149] | likely benign | 9 | 133656582 | 133656582 | Human | 1 | name , alternate_id |
| 156219751 | CV1879174 | single nucleotide variant | NM_000787.4(DBH):c.236G>A (p.Arg79Gln) | Inborn genetic diseases [RCV003060538]|Orthostatic hypotension 1 [RCV003058882] | uncertain significance | 9 | 133636607 | 133636607 | Human | 2 | name , alternate_id |
| 156371491 | CV1901402 | single nucleotide variant | NM_000787.4(DBH):c.1278G>A (p.Arg426=) | Orthostatic hypotension 1 [RCV002582447] | likely benign | 9 | 133651720 | 133651720 | Human | 1 | name , alternate_id |
| 156372394 | CV1953246 | single nucleotide variant | NM_000787.4(DBH):c.1083C>T (p.Asn361=) | Orthostatic hypotension 1 [RCV002582529] | likely benign | 9 | 133647904 | 133647904 | Human | 1 | name , alternate_id |
| 156352329 | CV1985729 | single nucleotide variant | NM_000787.4(DBH):c.1515C>T (p.Ser505=) | Orthostatic hypotension 1 [RCV002632068] | likely benign | 9 | 133656603 | 133656603 | Human | 1 | name , alternate_id |
| 156287232 | CV2001797 | single nucleotide variant | NM_000787.4(DBH):c.1662C>A (p.Ala554=) | Orthostatic hypotension 1 [RCV002647054] | likely benign | 9 | 133657169 | 133657169 | Human | 1 | name , alternate_id |
| 156119627 | CV2004092 | single nucleotide variant | NM_000787.4(DBH):c.224A>C (p.Gln75Pro) | Orthostatic hypotension 1 [RCV002662805] | uncertain significance | 9 | 133636595 | 133636595 | Human | 1 | name , alternate_id |
| 156079148 | CV2022565 | single nucleotide variant | NM_000787.4(DBH):c.1023A>G (p.Glu341=) | Orthostatic hypotension 1 [RCV002760566] | uncertain significance | 9 | 133644319 | 133644319 | Human | 1 | name , alternate_id |
| 156310595 | CV2031524 | single nucleotide variant | NM_000787.4(DBH):c.1476G>A (p.Val492=) | Orthostatic hypotension 1 [RCV002716511] | likely benign | 9 | 133656564 | 133656564 | Human | 1 | name , alternate_id |
| 156334857 | CV2057711 | single nucleotide variant | NM_000787.4(DBH):c.217C>T (p.His73Tyr) | Orthostatic hypotension 1 [RCV002810882] | uncertain significance | 9 | 133636588 | 133636588 | Human | 1 | name , alternate_id |
| 156305776 | CV2105245 | single nucleotide variant | NM_000787.4(DBH):c.1473C>T (p.Tyr491=) | DBH-related disorder [RCV003973546]|Orthostatic hypotension 1 [RCV002922811] | likely benign|uncertain significance | 9 | 133656561 | 133656561 | Human | 1 | name , trait , alternate_id |
| 156032583 | CV2116248 | single nucleotide variant | NM_000787.4(DBH):c.1443C>T (p.Phe481=) | Orthostatic hypotension 1 [RCV002910132] | likely benign | 9 | 133656531 | 133656531 | Human | 1 | name , alternate_id |
| 156150014 | CV2124791 | single nucleotide variant | NM_000787.4(DBH):c.1677G>A (p.Ala559=) | Orthostatic hypotension 1 [RCV002928869]|not provided [RCV003434535] | likely benign | 9 | 133657184 | 133657184 | Human | 1 | name , alternate_id |
| 10448400 | CV214411 | deletion | NM_000787.4(DBH):c.617del (p.Glu206fs) | Orthostatic hypotension 1 [RCV000201827] | pathogenic|not provided | 9 | 133642337 | 133642337 | Human | 1 | name , alternate_id |
| 156073471 | CV2229985 | single nucleotide variant | NM_000787.4(DBH):c.146A>T (p.Tyr49Phe) | Inborn genetic diseases [RCV002737497] | uncertain significance | 9 | 133636517 | 133636517 | Human | 1 | name |
| 156353570 | CV2327558 | single nucleotide variant | NM_000787.4(DBH):c.290A>G (p.Asn97Ser) | Inborn genetic diseases [RCV002940252] | uncertain significance | 9 | 133636661 | 133636661 | Human | 1 | name |
| 405105979 | CV2865747 | single nucleotide variant | NM_000787.4(DBH):c.1149C>A (p.Ala383=) | Orthostatic hypotension 1 [RCV003498240] | likely benign | 9 | 133647970 | 133647970 | Human | 1 | name , alternate_id |
| 405107840 | CV2911453 | deletion | NM_000787.4(DBH):c.945del (p.Gly316fs) | Orthostatic hypotension 1 [RCV003498638] | pathogenic | 9 | 133644240 | 133644240 | Human | 1 | name , alternate_id |
| 405017376 | CV2947064 | single nucleotide variant | NM_000787.4(DBH):c.1758C>T (p.Ile586=) | Orthostatic hypotension 1 [RCV003600526] | likely benign | 9 | 133658351 | 133658351 | Human | 1 | name , alternate_id |
| 405027346 | CV2971375 | single nucleotide variant | NM_000787.4(DBH):c.1485C>T (p.Tyr495=) | Orthostatic hypotension 1 [RCV003601467] | likely benign | 9 | 133656573 | 133656573 | Human | 1 | name , alternate_id |
| 405015324 | CV3036519 | single nucleotide variant | NM_000787.4(DBH):c.1242C>T (p.His414=) | Orthostatic hypotension 1 [RCV003600249] | likely benign | 9 | 133651684 | 133651684 | Human | 1 | name , alternate_id |
| 405022701 | CV3052759 | single nucleotide variant | NM_000787.4(DBH):c.1794C>T (p.Thr598=) | Orthostatic hypotension 1 [RCV003601033] | likely benign | 9 | 133658387 | 133658387 | Human | 1 | name , alternate_id |
| 405022846 | CV3057065 | single nucleotide variant | NM_000787.4(DBH):c.1773G>A (p.Glu591=) | Orthostatic hypotension 1 [RCV003601048] | likely benign | 9 | 133658366 | 133658366 | Human | 1 | name , alternate_id |
| 11601864 | CV307410 | single nucleotide variant | NM_000787.4(DBH):c.1173G>A (p.Thr391=) | Orthostatic hypotension 1 [RCV000286186] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 133647994 | 133647994 | Human | 1 | name , alternate_id |
| 11608307 | CV307417 | single nucleotide variant | NM_000787.4(DBH):c.1572C>T (p.Asn524=) | Orthostatic hypotension 1 [RCV000353567]|not provided [RCV004705483] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133657079 | 133657079 | Human | 1 | name , alternate_id |
| 11599319 | CV307422 | single nucleotide variant | NM_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 significance | 9 | 133658327 | 133658327 | Human | 1 | name , trait , alternate_id |
| 405027156 | CV3075683 | single nucleotide variant | NM_000787.4(DBH):c.1260G>A (p.Val420=) | Orthostatic hypotension 1 [RCV003601337] | likely benign | 9 | 133651702 | 133651702 | Human | 1 | name , alternate_id |
| 405032890 | CV3076708 | single nucleotide variant | NM_000787.4(DBH):c.1419G>A (p.Arg473=) | Orthostatic hypotension 1 [RCV003601924] | likely benign | 9 | 133652984 | 133652984 | Human | 1 | name , alternate_id |
| 405033644 | CV3077411 | single nucleotide variant | NM_000787.4(DBH):c.1116G>T (p.Thr372=) | Orthostatic hypotension 1 [RCV003601989] | likely benign | 9 | 133647937 | 133647937 | Human | 1 | name , alternate_id |
| 11609140 | CV317163 | single nucleotide variant | NM_000787.4(DBH):c.235C>T (p.Arg79Trp) | Orthostatic hypotension 1 [RCV000364592]|not provided [RCV004584697] | benign|likely benign | 9 | 133636606 | 133636606 | Human | 7 | name , alternate_id |
| 11609140 | CV317163 | single nucleotide variant | NM_000787.4(DBH):c.235C>T (p.Arg79Trp) | Orthostatic hypotension 1 [RCV000364592]|not provided [RCV004584697] | benign|likely benign | 9 | 133636606 | 133636607 | Human | 7 | name , alternate_id |
| 11600233 | CV317176 | single nucleotide variant | NM_000787.4(DBH):c.253G>A (p.Val85Ile) | Inborn genetic diseases [RCV002523753]|Orthostatic hypotension 1 [RCV000272253] | uncertain significance | 9 | 133636624 | 133636624 | Human | 2 | name , alternate_id |
| 11605875 | CV317181 | single nucleotide variant | NM_000787.4(DBH):c.259T>C (p.Phe87Leu) | Orthostatic hypotension 1 [RCV000325038] | uncertain significance | 9 | 133636630 | 133636630 | Human | 1 | name , alternate_id |
| 11612015 | CV317218 | single nucleotide variant | NM_000787.4(DBH):c.1410A>G (p.Thr470=) | Orthostatic hypotension 1 [RCV000402576]|not provided [RCV001537445] | benign | 9 | 133652975 | 133652975 | Human | 1 | name , alternate_id |
| 11609655 | CV317224 | single nucleotide variant | NM_000787.4(DBH):c.1557C>T (p.Ile519=) | Orthostatic hypotension 1 [RCV000370913] | uncertain significance | 9 | 133656645 | 133656645 | Human | 1 | name , alternate_id |
| 402467344 | CV3174069 | single nucleotide variant | NM_000787.4(DBH):c.1059C>T (p.Tyr353=) | Orthostatic hypotension 1 [RCV003873352] | likely benign | 9 | 133647880 | 133647880 | Human | 1 | name , alternate_id |
| 11610444 | CV317586 | single nucleotide variant | NM_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 significance | 9 | 133636634 | 133636634 | Human | 9 | name , trait , alternate_id |
| 11610444 | CV317586 | single nucleotide variant | NM_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 significance | 9 | 133636634 | 133636635 | Human | 9 | name , trait , alternate_id |
| 11599161 | CV317609 | single nucleotide variant | NM_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 significance | 9 | 133657106 | 133657106 | Human | 1 | name , trait , alternate_id |
| 11605801 | CV317620 | single nucleotide variant | NM_000787.4(DBH):c.1788C>T (p.Cys596=) | Orthostatic hypotension 1 [RCV000324031] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 133658381 | 133658381 | Human | 1 | name , alternate_id |
| 402508116 | CV3182011 | single nucleotide variant | NM_000787.4(DBH):c.1665G>A (p.Leu555=) | Orthostatic hypotension 1 [RCV003878664] | likely benign | 9 | 133657172 | 133657172 | Human | 1 | name , alternate_id |
| 407453103 | CV3430166 | single nucleotide variant | NM_000787.4(DBH):c.257T>A (p.Leu86Gln) | Inborn genetic diseases [RCV004608834] | uncertain significance | 9 | 133636628 | 133636628 | Human | 1 | name |
| 597673082 | CV3651807 | single nucleotide variant | NM_000787.4(DBH):c.221T>A (p.Phe74Tyr) | Inborn genetic diseases [RCV004981592] | uncertain significance | 9 | 133636592 | 133636592 | Human | 1 | name |
| 597881935 | CV3744972 | single nucleotide variant | NM_000787.4(DBH):c.1794C>G (p.Thr598=) | Orthostatic hypotension 1 [RCV005069997] | likely benign | 9 | 133658387 | 133658387 | Human | 1 | name , alternate_id |
| 597886640 | CV3800140 | single nucleotide variant | NM_000787.4(DBH):c.1614G>A (p.Gln538=) | Orthostatic hypotension 1 [RCV005150620] | likely benign | 9 | 133657121 | 133657121 | Human | 1 | name , alternate_id |
| 597888469 | CV3804680 | single nucleotide variant | NM_000787.4(DBH):c.1164C>T (p.Gly388=) | Orthostatic hypotension 1 [RCV005150942] | likely benign | 9 | 133647985 | 133647985 | Human | 1 | name , alternate_id |
| 597971108 | CV3832749 | single nucleotide variant | NM_000787.4(DBH):c.1359C>G (p.Val453=) | Orthostatic hypotension 1 [RCV005166828] | likely benign | 9 | 133652269 | 133652269 | Human | 1 | name , alternate_id |
| 597930833 | CV3837623 | single nucleotide variant | NM_000787.4(DBH):c.1647C>T (p.Arg549=) | Orthostatic hypotension 1 [RCV005185783] | likely benign | 9 | 133657154 | 133657154 | Human | 1 | name , alternate_id |
| 597890673 | CV3839778 | single nucleotide variant | NM_000787.4(DBH):c.1710C>T (p.Ala570=) | Orthostatic hypotension 1 [RCV005179670] | likely benign | 9 | 133657217 | 133657217 | Human | 1 | name , alternate_id |
| 598251921 | CV3963464 | single nucleotide variant | NM_000787.4(DBH):c.280G>A (p.Glu94Lys) | Inborn genetic diseases [RCV005323153] | uncertain significance | 9 | 133636651 | 133636651 | Human | 1 | name |
| 13618884 | CV524255 | single nucleotide variant | NM_000787.4(DBH):c.1434G>A (p.Val478=) | DBH-related disorder [RCV003965328]|Orthostatic hypotension 1 [RCV000635251] | likely benign|uncertain significance | 9 | 133652999 | 133652999 | Human | 1 | name , trait , alternate_id |
| 13805225 | CV563697 | single nucleotide variant | NM_000787.4(DBH):c.146A>G (p.Tyr49Cys) | Orthostatic hypotension 1 [RCV000685606] | uncertain significance | 9 | 133636517 | 133636517 | Human | 1 | name , alternate_id |
| 15202969 | CV700876 | single nucleotide variant | NM_000787.4(DBH):c.1266A>G (p.Thr422=) | Orthostatic hypotension 1 [RCV000958138] | likely benign | 9 | 133651708 | 133651708 | Human | 1 | name , alternate_id |
| 15152880 | CV711832 | single nucleotide variant | NM_000787.4(DBH):c.1206C>T (p.Ser402=) | Orthostatic hypotension 1 [RCV000968439] | benign | 9 | 133651648 | 133651648 | Human | 1 | name , alternate_id |
| 15141953 | CV711833 | single nucleotide variant | NM_000787.4(DBH):c.1215C>T (p.His405=) | DBH-related disorder [RCV004757349]|Orthostatic hypotension 1 [RCV000966395] | likely benign|conflicting interpretations of pathogenicity | 9 | 133651657 | 133651657 | Human | 1 | name , trait , alternate_id |
| 15179706 | CV711834 | single nucleotide variant | NM_000787.4(DBH):c.1299C>T (p.Ile433=) | Orthostatic hypotension 1 [RCV002066445] | likely benign | 9 | 133651741 | 133651741 | Human | 1 | name , alternate_id |
| 15182856 | CV711835 | single nucleotide variant | NM_000787.4(DBH):c.1539G>A (p.Gln513=) | Orthostatic hypotension 1 [RCV000974738] | benign | 9 | 133656627 | 133656627 | Human | 1 | name , alternate_id |
| 15179088 | CV711836 | single nucleotide variant | NM_000787.4(DBH):c.1824C>T (p.Thr608=) | Orthostatic hypotension 1 [RCV002548376] | likely benign | 9 | 133658417 | 133658417 | Human | 1 | name , alternate_id |
| 15189587 | CV723426 | single nucleotide variant | NM_000787.4(DBH):c.1735C>T (p.Leu579=) | DBH-related disorder [RCV003955939]|Orthostatic hypotension 1 [RCV000887862] | benign|likely benign | 9 | 133658328 | 133658328 | Human | 1 | name , trait , alternate_id |
| 15155543 | CV736987 | single nucleotide variant | NM_000787.4(DBH):c.1146C>T (p.Thr382=) | Orthostatic hypotension 1 [RCV000902160] | likely benign | 9 | 133647967 | 133647967 | Human | 1 | name , alternate_id |
| 15143374 | CV736988 | single nucleotide variant | NM_000787.4(DBH):c.1401G>A (p.Thr467=) | Orthostatic hypotension 1 [RCV002065683] | likely benign | 9 | 133652966 | 133652966 | Human | 1 | name , alternate_id |
| 15155397 | CV751524 | single nucleotide variant | NM_000787.4(DBH):c.1221C>T (p.Phe407=) | Orthostatic hypotension 1 [RCV001167648] | benign|likely benign | 9 | 133651663 | 133651663 | Human | 1 | name , alternate_id |
| 15107962 | CV767238 | single nucleotide variant | NM_000787.4(DBH):c.1038C>T (p.Ser346=) | Orthostatic hypotension 1 [RCV000938064] | likely benign | 9 | 133647859 | 133647859 | Human | 1 | name , alternate_id |
| 15171785 | CV767239 | single nucleotide variant | NM_000787.4(DBH):c.1656G>A (p.Leu552=) | not provided [RCV000927974] | likely benign | 9 | 133657163 | 133657163 | Human | | name |
| 15201310 | CV767240 | single nucleotide variant | NM_000787.4(DBH):c.1791C>T (p.Pro597=) | not provided [RCV000935627] | likely benign | 9 | 133658384 | 133658384 | Human | | name |
| 26902120 | CV835738 | duplication | NM_000787.4(DBH):c.468dup (p.Lys157fs) | Orthostatic hypotension 1 [RCV001050113] | pathogenic | 9 | 133639970 | 133639971 | Human | 1 | name , alternate_id |
| 28887729 | CV901441 | single nucleotide variant | NM_000787.4(DBH):c.128G>A (p.Arg43His) | Inborn genetic diseases [RCV004032913]|Orthostatic hypotension 1 [RCV001169428] | uncertain significance | 9 | 133636499 | 133636499 | Human | 2 | name , alternate_id |
| 28887733 | CV901442 | single nucleotide variant | NM_000787.4(DBH):c.153C>G (p.Ile51Met) | Orthostatic hypotension 1 [RCV001169429] | uncertain significance | 9 | 133636524 | 133636524 | Human | 1 | name , alternate_id |
| 28879541 | CV901450 | single nucleotide variant | NM_000787.4(DBH):c.1128C>A (p.Ala376=) | Orthostatic hypotension 1 [RCV001167069] | uncertain significance | 9 | 133647949 | 133647949 | Human | 1 | name , alternate_id |
| 28879548 | CV901452 | single nucleotide variant | NM_000787.4(DBH):c.1155C>T (p.Ile385=) | Orthostatic hypotension 1 [RCV001167071] | uncertain significance | 9 | 133647976 | 133647976 | Human | 1 | name , alternate_id |
| 28881508 | CV901455 | single nucleotide variant | NM_000787.4(DBH):c.1365G>A (p.Ser455=) | Orthostatic hypotension 1 [RCV001167651] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 133652275 | 133652275 | Human | 1 | name , alternate_id |
| 126762705 | CV993267 | single nucleotide variant | NM_000787.4(DBH):c.275G>A (p.Arg92His) | Orthostatic hypotension 1 [RCV001309967] | uncertain significance | 9 | 133636646 | 133636646 | Human | 1 | name , alternate_id |
| 126740313 | CV1017151 | single nucleotide variant | NM_000787.4(DBH):c.715A>T (p.Lys239Ter) | Orthostatic hypotension 1 [RCV002785699] | pathogenic | 9 | 133642435 | 133642435 | Human | 1 | name , alternate_id |
| 126914327 | CV1046003 | single nucleotide variant | NM_000787.4(DBH):c.788A>G (p.His263Arg) | Orthostatic hypotension 1 [RCV001370432] | uncertain significance | 9 | 133643456 | 133643456 | Human | 1 | name , alternate_id |
| 150461972 | CV1234847 | duplication | NM_000787.4(DBH):c.1722+207_1722+209dup | not provided [RCV001649429] | benign | 9 | 133657435 | 133657436 | Human | | name |
| 150460671 | CV1253140 | microsatellite | NM_000787.4(DBH):c.1722+180GAGAGAGGA[4] | not provided [RCV001669469] | benign | 9 | 133657409 | 133657417 | Human | | name |
| 151845398 | CV1346035 | single nucleotide variant | NM_000787.4(DBH):c.316G>A (p.Asp106Asn) | Orthostatic hypotension 1 [RCV001936638] | uncertain significance | 9 | 133636687 | 133636687 | Human | 1 | name , alternate_id |
| 151760638 | CV1358018 | single nucleotide variant | NM_000787.4(DBH):c.823A>G (p.Ser275Gly) | Orthostatic hypotension 1 [RCV001928468] | uncertain significance | 9 | 133643491 | 133643491 | Human | 1 | name , alternate_id |
| 151826686 | CV1359713 | single nucleotide variant | NM_000787.4(DBH):c.826G>A (p.Val276Ile) | Orthostatic hypotension 1 [RCV002050316] | uncertain significance | 9 | 133643494 | 133643494 | Human | 1 | name , alternate_id |
| 151736973 | CV1361862 | single nucleotide variant | NM_000787.4(DBH):c.686C>T (p.Thr229Met) | Orthostatic hypotension 1 [RCV001967736] | uncertain significance | 9 | 133642406 | 133642406 | Human | 1 | name , alternate_id |
| 151849439 | CV1368362 | single nucleotide variant | NM_000787.4(DBH):c.418C>T (p.Pro140Ser) | Orthostatic hypotension 1 [RCV001978724] | uncertain significance | 9 | 133639924 | 133639924 | Human | 1 | name , alternate_id |
| 151769056 | CV1383581 | single nucleotide variant | NM_000787.4(DBH):c.299T>C (p.Leu100Pro) | Orthostatic hypotension 1 [RCV001874265] | uncertain significance | 9 | 133636670 | 133636670 | Human | 1 | name , alternate_id |
| 151715327 | CV1407890 | single nucleotide variant | NM_000787.4(DBH):c.757G>A (p.Val253Ile) | Inborn genetic diseases [RCV002552271]|Orthostatic hypotension 1 [RCV001890222] | likely benign|uncertain significance | 9 | 133643425 | 133643425 | Human | 2 | name , alternate_id |
| 151821870 | CV1449717 | single nucleotide variant | NM_000787.4(DBH):c.728G>A (p.Arg243Gln) | Inborn genetic diseases [RCV002545503]|Orthostatic hypotension 1 [RCV002013465] | uncertain significance | 9 | 133642448 | 133642448 | Human | 2 | name , alternate_id |
| 151790823 | CV1475442 | single nucleotide variant | NM_000787.4(DBH):c.638C>T (p.Thr213Ile) | Orthostatic hypotension 1 [RCV001973035] | uncertain significance | 9 | 133642358 | 133642358 | Human | 1 | name , alternate_id |
| 151888296 | CV1512604 | single nucleotide variant | NM_000787.4(DBH):c.614C>T (p.Pro205Leu) | Orthostatic hypotension 1 [RCV001887930] | uncertain significance | 9 | 133642334 | 133642334 | Human | 1 | name , alternate_id |
| 8556427 | CV16790 | single nucleotide variant | NM_000787.4(DBH):c.342C>A (p.Asp114Glu) | Orthostatic hypotension 1 [RCV000001821] | pathogenic|uncertain significance | 9 | 133639848 | 133639848 | Human | 1 | name , alternate_id |
| 10448419 | CV16791 | single nucleotide variant | NM_000787.4(DBH):c.301G>A (p.Val101Met) | Orthostatic hypotension 1 [RCV000201816] | pathogenic|uncertain significance|not provided | 9 | 133636672 | 133636672 | Human | 1 | name , alternate_id |
| 156358981 | CV1873942 | single nucleotide variant | NM_000787.4(DBH):c.337G>T (p.Ala113Ser) | Inborn genetic diseases [RCV003065472]|Orthostatic hypotension 1 [RCV003071614] | uncertain significance | 9 | 133636708 | 133636708 | Human | 2 | name , alternate_id |
| 156078772 | CV1908801 | single nucleotide variant | NM_000787.4(DBH):c.814G>A (p.Glu272Lys) | Orthostatic hypotension 1 [RCV002591506] | uncertain significance | 9 | 133643482 | 133643482 | Human | 1 | name , alternate_id |
| 155944289 | CV1911175 | single nucleotide variant | NM_000787.4(DBH):c.470A>C (p.Lys157Thr) | Orthostatic hypotension 1 [RCV002615838] | uncertain significance | 9 | 133639976 | 133639976 | Human | 1 | name , alternate_id |
| 156292491 | CV1926585 | single nucleotide variant | NM_000787.4(DBH):c.326C>T (p.Thr109Ile) | Orthostatic hypotension 1 [RCV002628872] | uncertain significance | 9 | 133636697 | 133636697 | Human | 1 | name , alternate_id |
| 156055617 | CV1974554 | single nucleotide variant | NM_000787.4(DBH):c.792G>T (p.Met264Ile) | Orthostatic hypotension 1 [RCV002590803] | uncertain significance | 9 | 133643460 | 133643460 | Human | 1 | name , alternate_id |
| 156207817 | CV2040358 | single nucleotide variant | NM_000787.4(DBH):c.610G>A (p.Glu204Lys) | Orthostatic hypotension 1 [RCV002790124] | uncertain significance | 9 | 133642330 | 133642330 | Human | 1 | name , alternate_id |
| 156004994 | CV2045944 | single nucleotide variant | NM_000787.4(DBH):c.659A>G (p.Asn220Ser) | Orthostatic hypotension 1 [RCV002794806] | uncertain significance | 9 | 133642379 | 133642379 | Human | 1 | name , alternate_id |
| 156326283 | CV2054150 | single nucleotide variant | NM_000787.4(DBH):c.491G>A (p.Gly164Asp) | Orthostatic hypotension 1 [RCV002810412] | uncertain significance | 9 | 133642211 | 133642211 | Human | 1 | name , alternate_id |
| 155971047 | CV2062473 | single nucleotide variant | NM_000787.4(DBH):c.520G>A (p.Glu174Lys) | Orthostatic hypotension 1 [RCV002842079] | uncertain significance | 9 | 133642240 | 133642240 | Human | 1 | name , alternate_id |
| 155991728 | CV2066843 | single nucleotide variant | NM_000787.4(DBH):c.593T>A (p.Leu198Gln) | Orthostatic hypotension 1 [RCV002842987] | uncertain significance | 9 | 133642313 | 133642313 | Human | 1 | name , alternate_id |
| 155985520 | CV2094833 | single nucleotide variant | NM_000787.4(DBH):c.511G>A (p.Gly171Arg) | Orthostatic hypotension 1 [RCV002907902] | uncertain significance | 9 | 133642231 | 133642231 | Human | 1 | name , alternate_id |
| 156308874 | CV2109373 | single nucleotide variant | NM_000787.4(DBH):c.338C>T (p.Ala113Val) | Orthostatic hypotension 1 [RCV002922959] | uncertain significance | 9 | 133636709 | 133636709 | Human | 1 | name , alternate_id |
| 156252154 | CV2117019 | single nucleotide variant | NM_000787.4(DBH):c.887G>A (p.Arg296His) | Orthostatic hypotension 1 [RCV002933589] | uncertain significance | 9 | 133643555 | 133643555 | Human | 1 | name , alternate_id |
| 156322634 | CV2134258 | single nucleotide variant | NM_000787.4(DBH):c.532C>T (p.Arg178Trp) | Orthostatic hypotension 1 [RCV002963315] | uncertain significance | 9 | 133642252 | 133642252 | Human | 1 | name , alternate_id |
| 156165017 | CV2137070 | single nucleotide variant | NM_000787.4(DBH):c.808G>A (p.Ala270Thr) | Orthostatic hypotension 1 [RCV003005206] | uncertain significance | 9 | 133643476 | 133643476 | Human | 1 | name , alternate_id |
| 156317845 | CV2137842 | single nucleotide variant | NM_000787.4(DBH):c.638C>G (p.Thr213Ser) | Orthostatic hypotension 1 [RCV002963009] | uncertain significance | 9 | 133642358 | 133642358 | Human | 1 | name , alternate_id |
| 155941556 | CV2142980 | single nucleotide variant | NM_000787.4(DBH):c.343G>A (p.Ala115Thr) | Orthostatic hypotension 1 [RCV002994087] | uncertain significance | 9 | 133639849 | 133639849 | Human | 1 | name , alternate_id |
| 10448403 | CV214412 | single nucleotide variant | NM_000787.4(DBH):c.806G>T (p.Cys269Phe) | Orthostatic hypotension 1 [RCV000201835] | pathogenic|not provided | 9 | 133643474 | 133643474 | Human | 1 | name , alternate_id |
| 156062903 | CV2162035 | single nucleotide variant | NM_000787.4(DBH):c.575T>C (p.Leu192Pro) | Orthostatic hypotension 1 [RCV003019794] | uncertain significance | 9 | 133642295 | 133642295 | Human | 1 | name , alternate_id |
| 156076398 | CV2173521 | single nucleotide variant | NM_000787.4(DBH):c.671C>T (p.Pro224Leu) | Orthostatic hypotension 1 [RCV003053879] | uncertain significance | 9 | 133642391 | 133642391 | Human | 1 | name , alternate_id |
| 156198736 | CV2187007 | single nucleotide variant | NM_000787.4(DBH):c.923C>T (p.Ala308Val) | Orthostatic hypotension 1 [RCV003058084] | uncertain significance | 9 | 133644219 | 133644219 | Human | 1 | name , alternate_id |
| 156074756 | CV2230086 | single nucleotide variant | NM_000787.4(DBH):c.461G>A (p.Cys154Tyr) | Inborn genetic diseases [RCV002737568] | uncertain significance | 9 | 133639967 | 133639967 | Human | 1 | name |
| 155969640 | CV2262137 | single nucleotide variant | NM_000787.4(DBH):c.871C>T (p.Arg291Cys) | Inborn genetic diseases [RCV002817586] | uncertain significance | 9 | 133643539 | 133643539 | Human | 1 | name |
| 156365513 | CV2272124 | single nucleotide variant | NM_000787.4(DBH):c.772G>A (p.Glu258Lys) | Inborn genetic diseases [RCV002813481] | uncertain significance | 9 | 133643440 | 133643440 | Human | 1 | name |
| 155915425 | CV2274174 | single nucleotide variant | NM_000787.4(DBH):c.382C>T (p.Gln128Ter) | Inborn genetic diseases [RCV002858883] | pathogenic | 9 | 133639888 | 133639888 | Human | 1 | name |
| 156080765 | CV2292729 | single nucleotide variant | NM_000787.4(DBH):c.968G>A (p.Gly323Glu) | Inborn genetic diseases [RCV002869244] | uncertain significance | 9 | 133644264 | 133644264 | Human | 1 | name |
| 329369912 | CV2424979 | single nucleotide variant | NM_000787.4(DBH):c.553G>A (p.Gly185Ser) | Inborn genetic diseases [RCV003184062]|Orthostatic hypotension 1 [RCV005101219] | likely benign|uncertain significance | 9 | 133642273 | 133642273 | Human | 2 | name , alternate_id |
| 401746965 | CV2692032 | single nucleotide variant | NM_000787.4(DBH):c.986G>A (p.Arg329His) | Inborn genetic diseases [RCV003275826] | uncertain significance | 9 | 133644282 | 133644282 | Human | 1 | name |
| 401751788 | CV2702905 | single nucleotide variant | NM_000787.4(DBH):c.968G>T (p.Gly323Val) | Inborn genetic diseases [RCV003277140] | uncertain significance | 9 | 133644264 | 133644264 | Human | 1 | name |
| 401758887 | CV2705222 | single nucleotide variant | NM_000787.4(DBH):c.832C>T (p.His278Tyr) | Inborn genetic diseases [RCV003256644] | uncertain significance | 9 | 133643500 | 133643500 | Human | 1 | name |
| 401890417 | CV2768196 | single nucleotide variant | NM_000787.4(DBH):c.467C>T (p.Pro156Leu) | Inborn genetic diseases [RCV003354414] | uncertain significance | 9 | 133639973 | 133639973 | Human | 1 | name |
| 405022894 | CV3067207 | deletion | NM_000787.4(DBH):c.1499del (p.Leu500fs) | Orthostatic hypotension 1 [RCV003601053] | pathogenic|likely pathogenic | 9 | 133656587 | 133656587 | Human | 1 | name , alternate_id |
| 11662393 | CV307374 | single nucleotide variant | NM_000787.4(DBH):c.407T>C (p.Val136Ala) | Inborn genetic diseases [RCV004022110]|Orthostatic hypotension 1 [RCV000385719] | likely benign|uncertain significance | 9 | 133639913 | 133639913 | Human | 2 | name , alternate_id |
| 11606815 | CV307377 | single nucleotide variant | NM_000787.4(DBH):c.602A>G (p.Asn201Ser) | Orthostatic hypotension 1 [RCV000335908]|not provided [RCV001540353] | benign|likely benign | 9 | 133642322 | 133642322 | Human | 1 | name , alternate_id |
| 11612117 | CV307401 | single nucleotide variant | NM_000787.4(DBH):c.631G>A (p.Ala211Thr) | DBH-related disorder [RCV003972540]|Orthostatic hypotension 1 [RCV000404226]|not provided [RCV001653752] | benign|likely benign | 9 | 133642351 | 133642351 | Human | 1 | name , trait , alternate_id |
| 405079874 | CV3137137 | single nucleotide variant | NM_000787.4(DBH):c.583G>T (p.Val195Leu) | Orthostatic hypotension 1 [RCV003834036] | uncertain significance | 9 | 133642303 | 133642303 | Human | 1 | name , alternate_id |
| 11601001 | CV317191 | single nucleotide variant | NM_000787.4(DBH):c.533G>A (p.Arg178Gln) | Orthostatic hypotension 1 [RCV000278551]|not provided [RCV004718600] | benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133642253 | 133642253 | Human | 1 | name , alternate_id |
| 11609278 | CV317196 | single nucleotide variant | NM_000787.4(DBH):c.776C>T (p.Ala259Val) | Inborn genetic diseases [RCV004609373]|Orthostatic hypotension 1 [RCV000366382] | uncertain significance | 9 | 133643444 | 133643444 | Human | 2 | name , alternate_id |
| 11610891 | CV317200 | single nucleotide variant | NM_000787.4(DBH):c.952G>T (p.Ala318Ser) | DBH-related disorder [RCV003972541]|Orthostatic hypotension 1 [RCV000387809]|not provided [RCV001643107] | benign|likely benign | 9 | 133644248 | 133644248 | Human | 1 | name , trait , alternate_id |
| 11604028 | CV317591 | single nucleotide variant | NM_000787.4(DBH):c.686C>A (p.Thr229Lys) | Orthostatic hypotension 1 [RCV000305723] | uncertain significance | 9 | 133642406 | 133642406 | Human | 1 | name , alternate_id |
| 11600420 | CV317594 | single nucleotide variant | NM_000787.4(DBH):c.868G>A (p.Asp290Asn) | Orthostatic hypotension 1 [RCV000273597]|not provided [RCV001706608] | benign|likely benign | 9 | 133643536 | 133643536 | Human | 1 | name , alternate_id |
| 405689362 | CV3246425 | single nucleotide variant | NM_000787.4(DBH):c.527C>T (p.Pro176Leu) | Inborn genetic diseases [RCV004372995] | uncertain significance | 9 | 133642247 | 133642247 | Human | 1 | name |
| 405689366 | CV3246426 | single nucleotide variant | NM_000787.4(DBH):c.630C>A (p.Asp210Glu) | Inborn genetic diseases [RCV004372996] | uncertain significance | 9 | 133642350 | 133642350 | Human | 1 | name |
| 405689371 | CV3246427 | single nucleotide variant | NM_000787.4(DBH):c.871C>A (p.Arg291Ser) | Inborn genetic diseases [RCV004372997] | uncertain significance | 9 | 133643539 | 133643539 | Human | 1 | name |
| 597673061 | CV3651802 | single nucleotide variant | NM_000787.4(DBH):c.404A>G (p.Gln135Arg) | Inborn genetic diseases [RCV004981588] | likely benign | 9 | 133639910 | 133639910 | Human | 1 | name |
| 597673073 | CV3651805 | single nucleotide variant | NM_000787.4(DBH):c.790A>C (p.Met264Leu) | Inborn genetic diseases [RCV004981590] | uncertain significance | 9 | 133643458 | 133643458 | Human | 1 | name |
| 597673078 | CV3651806 | single nucleotide variant | NM_000787.4(DBH):c.317A>C (p.Asp106Ala) | Inborn genetic diseases [RCV004981591] | uncertain significance | 9 | 133636688 | 133636688 | Human | 1 | name |
| 597673095 | CV3651809 | single nucleotide variant | NM_000787.4(DBH):c.927T>A (p.Phe309Leu) | Inborn genetic diseases [RCV004981594] | uncertain significance | 9 | 133644223 | 133644223 | Human | 1 | name |
| 597935659 | CV3759455 | single nucleotide variant | NM_000787.4(DBH):c.914G>A (p.Gly305Asp) | Orthostatic hypotension 1 [RCV005076575] | uncertain significance | 9 | 133643582 | 133643582 | Human | 1 | name , alternate_id |
| 598251925 | CV3963465 | single nucleotide variant | NM_000787.4(DBH):c.406G>T (p.Val136Leu) | Inborn genetic diseases [RCV005323154] | uncertain significance | 9 | 133639912 | 133639912 | Human | 1 | name |
| 13618889 | CV524253 | single nucleotide variant | NM_000787.4(DBH):c.850G>A (p.Asp284Asn) | Orthostatic hypotension 1 [RCV001169494] | benign|likely benign | 9 | 133643518 | 133643518 | Human | 1 | name , alternate_id |
| 13618885 | CV524516 | single nucleotide variant | NM_000787.4(DBH):c.490G>A (p.Gly164Ser) | Inborn genetic diseases [RCV004025458]|Orthostatic hypotension 1 [RCV000635252] | uncertain significance | 9 | 133642210 | 133642210 | Human | 2 | name , alternate_id |
| 13822197 | CV563698 | single nucleotide variant | NM_000787.4(DBH):c.380C>T (p.Pro127Leu) | Orthostatic hypotension 1 [RCV000696980] | uncertain significance | 9 | 133639886 | 133639886 | Human | 1 | name , alternate_id |
| 14731592 | CV637935 | single nucleotide variant | NM_000787.4(DBH):c.583G>A (p.Val195Met) | Inborn genetic diseases [RCV004028064]|Orthostatic hypotension 1 [RCV000801479] | uncertain significance | 9 | 133642303 | 133642303 | Human | 2 | name , alternate_id |
| 15187520 | CV700874 | single nucleotide variant | NM_000787.4(DBH):c.985C>T (p.Arg329Cys) | DBH-related disorder [RCV003895770]|Orthostatic hypotension 1 [RCV002066330] | likely benign | 9 | 133644281 | 133644281 | Human | 1 | name , trait , alternate_id |
| 15157866 | CV723421 | single nucleotide variant | NM_000787.4(DBH):c.322G>T (p.Asp108Tyr) | DBH-related disorder [RCV004757299]|Orthostatic hypotension 1 [RCV001485633] | likely benign | 9 | 133636693 | 133636693 | Human | 1 | name , trait , alternate_id |
| 15158203 | CV751522 | single nucleotide variant | NM_000787.4(DBH):c.901G>A (p.Ala301Thr) | Orthostatic hypotension 1 [RCV001453809] | likely benign | 9 | 133643569 | 133643569 | Human | 1 | name , alternate_id |
| 26911323 | CV835739 | single nucleotide variant | NM_000787.4(DBH):c.632C>T (p.Ala211Val) | Inborn genetic diseases [RCV004973262]|Orthostatic hypotension 1 [RCV001038766]|not provided [RCV004693467] | likely benign|uncertain significance | 9 | 133642352 | 133642352 | Human | 2 | name , alternate_id |
| 26902142 | CV835740 | single nucleotide variant | NM_000787.4(DBH):c.946G>A (p.Gly316Ser) | Inborn genetic diseases [RCV005318569]|Orthostatic hypotension 1 [RCV001035885] | uncertain significance | 9 | 133644242 | 133644242 | Human | 2 | name , alternate_id |
| 26911283 | CV835741 | single nucleotide variant | NM_000787.4(DBH):c.949C>T (p.Leu317Phe) | Orthostatic hypotension 1 [RCV001038760] | uncertain significance | 9 | 133644245 | 133644245 | Human | 1 | name , alternate_id |
| 26884603 | CV835742 | single nucleotide variant | NM_000787.4(DBH):c.958G>A (p.Gly320Arg) | Inborn genetic diseases [RCV003363061]|Orthostatic hypotension 1 [RCV001043043] | uncertain significance | 9 | 133644254 | 133644254 | Human | 2 | name , alternate_id |
| 28885267 | CV901444 | single nucleotide variant | NM_000787.4(DBH):c.717G>C (p.Lys239Asn) | Inborn genetic diseases [RCV002558672]|Orthostatic hypotension 1 [RCV001168725] | uncertain significance | 9 | 133642437 | 133642437 | Human | 2 | name , alternate_id |
| 28885272 | CV901445 | single nucleotide variant | NM_000787.4(DBH):c.736A>G (p.Ile246Val) | Orthostatic hypotension 1 [RCV001168726] | uncertain significance | 9 | 133642456 | 133642456 | Human | 1 | name , alternate_id |
| 28887963 | CV901446 | single nucleotide variant | NM_000787.4(DBH):c.892G>A (p.Val298Met) | Orthostatic hypotension 1 [RCV001169495] | uncertain significance | 9 | 133643560 | 133643560 | Human | 1 | name , alternate_id |
| 28887969 | CV901447 | single nucleotide variant | NM_000787.4(DBH):c.932A>G (p.Tyr311Cys) | Orthostatic hypotension 1 [RCV001169496] | uncertain significance | 9 | 133644228 | 133644228 | Human | 1 | name , alternate_id |
| 28874692 | CV901448 | single nucleotide variant | NM_000787.4(DBH):c.983T>G (p.Leu328Arg) | Orthostatic hypotension 1 [RCV001165473] | uncertain significance | 9 | 133644279 | 133644279 | Human | 1 | name , alternate_id |
| 38489318 | CV925465 | single nucleotide variant | NM_000787.4(DBH):c.557C>T (p.Ser186Leu) | Inborn genetic diseases [RCV005328603]|Orthostatic hypotension 1 [RCV001221668] | uncertain significance | 9 | 133642277 | 133642277 | Human | 2 | name , alternate_id |
| 38476952 | CV946471 | single nucleotide variant | NM_000787.4(DBH):c.653C>T (p.Ala218Val) | Orthostatic hypotension 1 [RCV001233309] | uncertain significance | 9 | 133642373 | 133642373 | Human | 1 | name , alternate_id |
| 126773053 | CV1008472 | single nucleotide variant | NM_000787.4(DBH):c.1172C>A (p.Thr391Lys) | Inborn genetic diseases [RCV004609764]|Orthostatic hypotension 1 [RCV001324103] | uncertain significance | 9 | 133647993 | 133647993 | Human | 2 | name , alternate_id |
| 126734231 | CV1028998 | single nucleotide variant | NM_000787.4(DBH):c.1133C>T (p.Pro378Leu) | Inborn genetic diseases [RCV002545622]|Orthostatic hypotension 1 [RCV001349908] | uncertain significance | 9 | 133647954 | 133647954 | Human | 2 | name , alternate_id |
| 127274929 | CV1097857 | single nucleotide variant | NM_000787.4(DBH):c.1541A>G (p.Lys514Arg) | DBH-related disorder [RCV003930936]|Orthostatic hypotension 1 [RCV001443089] | likely benign | 9 | 133656629 | 133656629 | Human | 1 | name , trait , alternate_id |
| 150456480 | CV1249622 | insertion | NM_000787.4(DBH):c.1722+204_1722+205insA | not provided [RCV001668837] | benign | 9 | 133657433 | 133657434 | Human | | name |
| 151741732 | CV1335524 | single nucleotide variant | NM_000787.4(DBH):c.1409C>T (p.Thr470Ile) | Orthostatic hypotension 1 [RCV001845045] | not provided | 9 | 133652974 | 133652974 | Human | | name , alternate_id |
| 151818749 | CV1337688 | single nucleotide variant | NM_000787.4(DBH):c.1075C>T (p.Arg359Cys) | Orthostatic hypotension 1 [RCV001919352] | uncertain significance | 9 | 133647896 | 133647896 | Human | 1 | name , alternate_id |
| 151754744 | CV1343323 | single nucleotide variant | NM_000787.4(DBH):c.1172C>G (p.Thr391Arg) | Orthostatic hypotension 1 [RCV002043642] | uncertain significance | 9 | 133647993 | 133647993 | Human | 1 | name , alternate_id |
| 151758029 | CV1361523 | single nucleotide variant | NM_000787.4(DBH):c.1172C>T (p.Thr391Met) | Orthostatic hypotension 1 [RCV001928186] | uncertain significance | 9 | 133647993 | 133647993 | Human | 1 | name , alternate_id |
| 151882706 | CV1381906 | single nucleotide variant | NM_000787.4(DBH):c.1174G>A (p.Asp392Asn) | Orthostatic hypotension 1 [RCV001941354] | uncertain significance | 9 | 133647995 | 133647995 | Human | 1 | name , alternate_id |
| 151808104 | CV1383815 | single nucleotide variant | NM_000787.4(DBH):c.1285C>T (p.Arg429Trp) | Orthostatic hypotension 1 [RCV001877996] | uncertain significance | 9 | 133651727 | 133651727 | Human | 1 | name , alternate_id |
| 151854510 | CV1390917 | single nucleotide variant | NM_000787.4(DBH):c.1019T>C (p.Ile340Thr) | Orthostatic hypotension 1 [RCV001958423] | uncertain significance | 9 | 133644315 | 133644315 | Human | 1 | name , alternate_id |
| 151846086 | CV1395200 | single nucleotide variant | NM_000787.4(DBH):c.1396T>C (p.Cys466Arg) | Orthostatic hypotension 1 [RCV001995352] | uncertain significance | 9 | 133652961 | 133652961 | Human | 1 | name , alternate_id |
| 151822115 | CV1412598 | single nucleotide variant | NM_000787.4(DBH):c.1360G>A (p.Val454Met) | Inborn genetic diseases [RCV003264276]|Orthostatic hypotension 1 [RCV001919677] | uncertain significance | 9 | 133652270 | 133652270 | Human | 2 | name , alternate_id |
| 151821714 | CV1415511 | single nucleotide variant | NM_000787.4(DBH):c.1733A>C (p.Asn578Thr) | Orthostatic hypotension 1 [RCV001900947] | uncertain significance | 9 | 133658326 | 133658326 | Human | 1 | name , alternate_id |
| 151793991 | CV1420515 | single nucleotide variant | NM_000787.4(DBH):c.1646G>A (p.Arg549His) | Inborn genetic diseases [RCV004612110]|Orthostatic hypotension 1 [RCV002027482] | uncertain significance | 9 | 133657153 | 133657153 | Human | 2 | name , alternate_id |
| 151714414 | CV1457614 | single nucleotide variant | NM_000787.4(DBH):c.1610A>C (p.Gln537Pro) | Orthostatic hypotension 1 [RCV001964935] | uncertain significance | 9 | 133657117 | 133657117 | Human | 1 | name , alternate_id |
| 151854779 | CV1473657 | single nucleotide variant | NM_000787.4(DBH):c.1418G>A (p.Arg473Gln) | Inborn genetic diseases [RCV002547980]|Orthostatic hypotension 1 [RCV001904550] | uncertain significance | 9 | 133652983 | 133652983 | Human | 2 | name , alternate_id |
| 151848943 | CV1480408 | single nucleotide variant | NM_000787.4(DBH):c.1498C>G (p.Leu500Val) | Orthostatic hypotension 1 [RCV001903828] | uncertain significance | 9 | 133656586 | 133656586 | Human | 1 | name , alternate_id |
| 151817985 | CV1482049 | single nucleotide variant | NM_000787.4(DBH):c.1648G>A (p.Asp550Asn) | Orthostatic hypotension 1 [RCV002029608] | uncertain significance | 9 | 133657155 | 133657155 | Human | 1 | name , alternate_id |
| 151856107 | CV1487449 | single nucleotide variant | NM_000787.4(DBH):c.1346T>C (p.Met449Thr) | Orthostatic hypotension 1 [RCV001923415] | uncertain significance | 9 | 133652256 | 133652256 | Human | 1 | name , alternate_id |
| 151740732 | CV1492476 | single nucleotide variant | NM_000787.4(DBH):c.1076G>A (p.Arg359His) | Orthostatic hypotension 1 [RCV002042204] | uncertain significance | 9 | 133647897 | 133647897 | Human | 1 | name , alternate_id |
| 151761777 | CV1502956 | single nucleotide variant | NM_000787.4(DBH):c.1030A>C (p.Asn344His) | Inborn genetic diseases [RCV002560422]|Orthostatic hypotension 1 [RCV001914074] | likely benign|uncertain significance | 9 | 133647851 | 133647851 | Human | 2 | name , alternate_id |
| 156290413 | CV1881786 | single nucleotide variant | NM_000787.4(DBH):c.1715G>A (p.Arg572His) | Orthostatic hypotension 1 [RCV003061432] | uncertain significance | 9 | 133657222 | 133657222 | Human | 1 | name , alternate_id |
| 156038820 | CV1890857 | single nucleotide variant | NM_000787.4(DBH):c.1393T>A (p.Ser465Thr) | Orthostatic hypotension 1 [RCV003078430] | uncertain significance | 9 | 133652958 | 133652958 | Human | 1 | name , alternate_id |
| 156086900 | CV1899032 | single nucleotide variant | NM_000787.4(DBH):c.1646G>T (p.Arg549Leu) | Inborn genetic diseases [RCV005323340]|Orthostatic hypotension 1 [RCV003080070] | uncertain significance | 9 | 133657153 | 133657153 | Human | 2 | name , alternate_id |
| 156371420 | CV1905423 | single nucleotide variant | NM_000787.4(DBH):c.1328A>G (p.His443Arg) | Inborn genetic diseases [RCV003073424]|Orthostatic hypotension 1 [RCV003092464] | uncertain significance | 9 | 133651770 | 133651770 | Human | 2 | name , alternate_id |
| 156401801 | CV1908025 | single nucleotide variant | NM_000787.4(DBH):c.1048C>T (p.Arg350Cys) | Orthostatic hypotension 1 [RCV002584957] | uncertain significance | 9 | 133647869 | 133647869 | Human | 1 | name , alternate_id |
| 155944721 | CV1911208 | single nucleotide variant | NM_000787.4(DBH):c.1084G>A (p.Ala362Thr) | Orthostatic hypotension 1 [RCV002615863] | uncertain significance | 9 | 133647905 | 133647905 | Human | 1 | name , alternate_id |
| 156016770 | CV1918354 | single nucleotide variant | NM_000787.4(DBH):c.1714C>T (p.Arg572Cys) | Orthostatic hypotension 1 [RCV002636505] | uncertain significance | 9 | 133657221 | 133657221 | Human | 1 | name , alternate_id |
| 156409628 | CV1922792 | single nucleotide variant | NM_000787.4(DBH):c.1360G>C (p.Val454Leu) | Orthostatic hypotension 1 [RCV002607614] | uncertain significance | 9 | 133652270 | 133652270 | Human | 1 | name , alternate_id |
| 156060584 | CV1938231 | single nucleotide variant | NM_000787.4(DBH):c.1417C>T (p.Arg473Trp) | Inborn genetic diseases [RCV002978331]|Orthostatic hypotension 1 [RCV003111735] | uncertain significance | 9 | 133652982 | 133652982 | Human | 2 | name , alternate_id |
| 156255951 | CV1960817 | single nucleotide variant | NM_000787.4(DBH):c.1738C>G (p.Gln580Glu) | Orthostatic hypotension 1 [RCV002576689] | uncertain significance | 9 | 133658331 | 133658331 | Human | 1 | name , alternate_id |
| 156263371 | CV1993756 | single nucleotide variant | NM_000787.4(DBH):c.1357G>T (p.Val453Phe) | Inborn genetic diseases [RCV003357970]|Orthostatic hypotension 1 [RCV002646290] | uncertain significance | 9 | 133652267 | 133652267 | Human | 2 | name , alternate_id |
| 156017748 | CV2019157 | single nucleotide variant | NM_000787.4(DBH):c.1356G>C (p.Lys452Asn) | Orthostatic hypotension 1 [RCV002690849] | uncertain significance | 9 | 133652266 | 133652266 | Human | 1 | name , alternate_id |
| 155943919 | CV2032537 | single nucleotide variant | NM_000787.4(DBH):c.1511A>G (p.Lys504Arg) | Orthostatic hypotension 1 [RCV002730293] | uncertain significance | 9 | 133656599 | 133656599 | Human | 1 | name , alternate_id |
| 156304134 | CV2070120 | single nucleotide variant | NM_000787.4(DBH):c.1141G>C (p.Glu381Gln) | Orthostatic hypotension 1 [RCV002833770] | uncertain significance | 9 | 133647962 | 133647962 | Human | 1 | name , alternate_id |
| 156202016 | CV2076524 | single nucleotide variant | NM_000787.4(DBH):c.1002C>A (p.Tyr334Ter) | Orthostatic hypotension 1 [RCV002852500] | pathogenic | 9 | 133644298 | 133644298 | Human | 1 | name , alternate_id |
| 156053954 | CV2101874 | single nucleotide variant | NM_000787.4(DBH):c.1073G>A (p.Arg358Gln) | Orthostatic hypotension 1 [RCV002886256] | uncertain significance | 9 | 133647894 | 133647894 | Human | 1 | name , alternate_id |
| 156142286 | CV2106124 | single nucleotide variant | NM_000787.4(DBH):c.1453G>A (p.Glu485Lys) | Orthostatic hypotension 1 [RCV002928599] | uncertain significance | 9 | 133656541 | 133656541 | Human | 1 | name , alternate_id |
| 156226876 | CV2115403 | single nucleotide variant | NM_000787.4(DBH):c.1415A>G (p.Asp472Gly) | Orthostatic hypotension 1 [RCV002932672] | uncertain significance | 9 | 133652980 | 133652980 | Human | 1 | name , alternate_id |
| 156312005 | CV2120077 | single nucleotide variant | NM_000787.4(DBH):c.1138C>T (p.Arg380Trp) | Inborn genetic diseases [RCV003170751]|Orthostatic hypotension 1 [RCV002962676] | uncertain significance | 9 | 133647959 | 133647959 | Human | 2 | name , alternate_id |
| 156391792 | CV2127196 | single nucleotide variant | NM_000787.4(DBH):c.1805G>A (p.Arg602Gln) | Orthostatic hypotension 1 [RCV002943978] | uncertain significance | 9 | 133658398 | 133658398 | Human | 1 | name , alternate_id |
| 156300607 | CV2129474 | single nucleotide variant | NM_000787.4(DBH):c.1115C>T (p.Thr372Met) | Inborn genetic diseases [RCV004068206]|Orthostatic hypotension 1 [RCV002962126] | uncertain significance | 9 | 133647936 | 133647936 | Human | 2 | name , alternate_id |
| 156262974 | CV2138765 | single nucleotide variant | NM_000787.4(DBH):c.1676C>T (p.Ala559Val) | Orthostatic hypotension 1 [RCV002988534] | uncertain significance | 9 | 133657183 | 133657183 | Human | 1 | name , alternate_id |
| 10448401 | CV214413 | single nucleotide variant | NM_000787.4(DBH):c.1085C>A (p.Ala362Glu) | Orthostatic hypotension 1 [RCV000201828] | pathogenic|not provided | 9 | 133647906 | 133647906 | Human | 1 | name , alternate_id |
| 10448406 | CV214414 | single nucleotide variant | NM_000787.4(DBH):c.1667A>G (p.Tyr556Cys) | Orthostatic hypotension 1 [RCV000201842] | pathogenic|not provided | 9 | 133657174 | 133657174 | Human | 1 | name , alternate_id |
| 156001454 | CV2169972 | single nucleotide variant | NM_000787.4(DBH):c.1379A>G (p.Asp460Gly) | Orthostatic hypotension 1 [RCV003017292] | uncertain significance | 9 | 133652944 | 133652944 | Human | 1 | name , alternate_id |
| 156259432 | CV2204734 | single nucleotide variant | NM_000787.4(DBH):c.1592C>G (p.Pro531Arg) | Inborn genetic diseases [RCV002668858] | uncertain significance | 9 | 133657099 | 133657099 | Human | 1 | name |
| 156401751 | CV2217643 | single nucleotide variant | NM_000787.4(DBH):c.1832G>A (p.Ser611Asn) | Inborn genetic diseases [RCV002657102] | likely benign | 9 | 133658425 | 133658425 | Human | 1 | name |
| 156340073 | CV2229404 | single nucleotide variant | NM_000787.4(DBH):c.1064C>G (p.Ala355Gly) | Inborn genetic diseases [RCV002719011] | uncertain significance | 9 | 133647885 | 133647885 | Human | 1 | name |
| 156102796 | CV2313622 | single nucleotide variant | NM_000787.4(DBH):c.1379A>T (p.Asp460Val) | Inborn genetic diseases [RCV002888737] | uncertain significance | 9 | 133652944 | 133652944 | Human | 1 | name |
| 156048991 | CV2319278 | single nucleotide variant | NM_000787.4(DBH):c.1177A>G (p.Lys393Glu) | Inborn genetic diseases [RCV002949995] | uncertain significance | 9 | 133647998 | 133647998 | Human | 1 | name |
| 156340447 | CV2368263 | single nucleotide variant | NM_000787.4(DBH):c.1364C>T (p.Ser455Leu) | Inborn genetic diseases [RCV002674371] | uncertain significance | 9 | 133652274 | 133652274 | Human | 1 | name |
| 155999987 | CV2373477 | single nucleotide variant | NM_000787.4(DBH):c.1221C>G (p.Phe407Leu) | Inborn genetic diseases [RCV002689967] | uncertain significance | 9 | 133651663 | 133651663 | Human | 1 | name |
| 329371494 | CV2431884 | single nucleotide variant | NM_000787.4(DBH):c.1165T>G (p.Tyr389Asp) | Inborn genetic diseases [RCV003184426] | uncertain significance | 9 | 133647986 | 133647986 | Human | 1 | name |
| 329391533 | CV2448669 | single nucleotide variant | NM_000787.4(DBH):c.1754T>G (p.Val585Gly) | Inborn genetic diseases [RCV003192191]|Orthostatic hypotension 1 [RCV003600450] | likely benign | 9 | 133658347 | 133658347 | Human | 2 | name , alternate_id |
| 329370697 | CV2461833 | single nucleotide variant | NM_000787.4(DBH):c.1831A>G (p.Ser611Gly) | Inborn genetic diseases [RCV003209517] | uncertain significance | 9 | 133658424 | 133658424 | Human | 1 | name |
| 401759441 | CV2690901 | single nucleotide variant | NM_000787.4(DBH):c.1576G>A (p.Asp526Asn) | Inborn genetic diseases [RCV003280161] | uncertain significance | 9 | 133657083 | 133657083 | Human | 1 | name |
| 405018943 | CV2949333 | single nucleotide variant | NM_000787.4(DBH):c.1270C>G (p.Leu424Val) | Orthostatic hypotension 1 [RCV003600676] | uncertain significance | 9 | 133651712 | 133651712 | Human | 1 | name , alternate_id |
| 11607151 | CV307407 | single nucleotide variant | NM_000787.4(DBH):c.1094T>C (p.Met365Thr) | Orthostatic hypotension 1 [RCV000340168] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133647915 | 133647915 | Human | 1 | name , alternate_id |
| 11612285 | CV307409 | single nucleotide variant | NM_000787.4(DBH):c.1139G>A (p.Arg380Gln) | Orthostatic hypotension 1 [RCV000406797] | uncertain significance | 9 | 133647960 | 133647960 | Human | 1 | name , alternate_id |
| 11604566 | CV311670 | single nucleotide variant | NM_000787.4(DBH):c.1451T>C (p.Leu484Pro) | Inborn genetic diseases [RCV002523754]|Orthostatic hypotension 1 [RCV000310857] | uncertain significance | 9 | 133656539 | 133656539 | Human | 2 | name , alternate_id |
| 11610233 | CV311673 | single nucleotide variant | NM_000787.4(DBH):c.1825G>A (p.Val609Ile) | Inborn genetic diseases [RCV002523755]|Orthostatic hypotension 1 [RCV000378583] | likely benign|uncertain significance | 9 | 133658418 | 133658418 | Human | 2 | name , alternate_id |
| 11607449 | CV311675 | single nucleotide variant | NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) | Inborn genetic diseases [RCV002524590]|Orthostatic hypotension 1 [RCV000343761] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133658433 | 133658433 | Human | 2 | name , alternate_id |
| 11609204 | CV317219 | single nucleotide variant | NM_000787.4(DBH):c.1493C>T (p.Thr498Met) | Orthostatic hypotension 1 [RCV000365476] | uncertain significance | 9 | 133656581 | 133656581 | Human | 1 | name , alternate_id |
| 11604720 | CV317221 | single nucleotide variant | NM_000787.4(DBH):c.1556T>C (p.Ile519Thr) | Orthostatic hypotension 1 [RCV000311960] | uncertain significance | 9 | 133656644 | 133656644 | Human | 1 | name , alternate_id |
| 11602197 | CV317228 | single nucleotide variant | NM_000787.4(DBH):c.1835T>C (p.Ile612Thr) | Inborn genetic diseases [RCV003258800]|Orthostatic hypotension 1 [RCV000288757] | uncertain significance | 9 | 133658428 | 133658428 | Human | 2 | name , alternate_id |
| 11601238 | CV317596 | single nucleotide variant | NM_000787.4(DBH):c.1028G>A (p.Arg343Gln) | Orthostatic hypotension 1 [RCV000280493] | uncertain significance | 9 | 133647849 | 133647849 | Human | 1 | name , alternate_id |
| 11612059 | CV317607 | single nucleotide variant | NM_000787.4(DBH):c.1516G>A (p.Ala506Thr) | Orthostatic hypotension 1 [RCV000403409] | uncertain significance | 9 | 133656604 | 133656604 | Human | 1 | name , alternate_id |
| 11605368 | CV317614 | single nucleotide variant | NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) | Orthostatic hypotension 1 [RCV000318690]|not provided [RCV001653753] | benign|likely benign | 9 | 133657152 | 133657152 | Human | 17 | name , alternate_id |
| 405689333 | CV3246420 | single nucleotide variant | NM_000787.4(DBH):c.1147G>A (p.Ala383Thr) | Inborn genetic diseases [RCV004372990] | uncertain significance | 9 | 133647968 | 133647968 | Human | 1 | name |
| 405689338 | CV3246421 | single nucleotide variant | NM_000787.4(DBH):c.1163G>A (p.Gly388Asp) | Inborn genetic diseases [RCV004372991] | uncertain significance | 9 | 133647984 | 133647984 | Human | 1 | name |
| 405689343 | CV3246422 | single nucleotide variant | NM_000787.4(DBH):c.1603G>A (p.Val535Met) | Inborn genetic diseases [RCV004372992] | uncertain significance | 9 | 133657110 | 133657110 | Human | 1 | name |
| 405689351 | CV3246423 | single nucleotide variant | NM_000787.4(DBH):c.1627C>T (p.Pro543Ser) | Inborn genetic diseases [RCV004372993] | uncertain significance | 9 | 133657134 | 133657134 | Human | 1 | name |
| 405689356 | CV3246424 | single nucleotide variant | NM_000787.4(DBH):c.1778C>T (p.Thr593Ile) | Inborn genetic diseases [RCV004372994] | uncertain significance | 9 | 133658371 | 133658371 | Human | 1 | name |
| 407453099 | CV3430164 | single nucleotide variant | NM_000787.4(DBH):c.1651G>A (p.Val551Ile) | Inborn genetic diseases [RCV004608832] | uncertain significance | 9 | 133657158 | 133657158 | Human | 1 | name |
| 597673043 | CV3651799 | single nucleotide variant | NM_000787.4(DBH):c.1474G>A (p.Val492Met) | Inborn genetic diseases [RCV004981585] | uncertain significance | 9 | 133656562 | 133656562 | Human | 1 | name |
| 597673048 | CV3651800 | single nucleotide variant | NM_000787.4(DBH):c.1322G>C (p.Ser441Thr) | Inborn genetic diseases [RCV004981586] | uncertain significance | 9 | 133651764 | 133651764 | Human | 1 | name |
| 597673055 | CV3651801 | single nucleotide variant | NM_000787.4(DBH):c.1205C>G (p.Ser402Cys) | Inborn genetic diseases [RCV004981587] | uncertain significance | 9 | 133651647 | 133651647 | Human | 1 | name |
| 597673067 | CV3651803 | single nucleotide variant | NM_000787.4(DBH):c.1180T>C (p.Cys394Arg) | Inborn genetic diseases [RCV004981589] | uncertain significance | 9 | 133648001 | 133648001 | Human | 1 | name |
| 597673089 | CV3651808 | single nucleotide variant | NM_000787.4(DBH):c.1400C>A (p.Thr467Lys) | Inborn genetic diseases [RCV004981593] | uncertain significance | 9 | 133652965 | 133652965 | Human | 1 | name |
| 10448397 | CV38418 | single nucleotide variant | NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) | Orthostatic hypotension 1 [RCV000201811] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133647854 | 133647854 | Human | 1 | name , alternate_id |
| 598251928 | CV3963466 | single nucleotide variant | NM_000787.4(DBH):c.1373C>T (p.Pro458Leu) | Inborn genetic diseases [RCV005323155] | uncertain significance | 9 | 133652283 | 133652283 | Human | 1 | name |
| 13462900 | CV439060 | single nucleotide variant | NM_000787.4(DBH):c.1198C>T (p.Pro400Ser) | Inborn genetic diseases [RCV004975605]|Orthostatic hypotension 1 [RCV001167072]|not provided [RCV000515036] | uncertain significance | 9 | 133651640 | 133651640 | Human | 2 | name , alternate_id |
| 13486019 | CV444393 | single nucleotide variant | NM_000787.4(DBH):c.1804C>T (p.Arg602Ter) | Orthostatic hypotension 1 [RCV005091200]|not provided [RCV000522774] | pathogenic|uncertain significance | 9 | 133658397 | 133658397 | Human | 1 | name , alternate_id |
| 13618887 | CV524520 | single nucleotide variant | NM_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 significance | 9 | 133656532 | 133656532 | Human | 1 | name , trait , alternate_id |
| 14713869 | CV637936 | single nucleotide variant | NM_000787.4(DBH):c.1066A>G (p.Lys356Glu) | Orthostatic hypotension 1 [RCV000794232] | uncertain significance | 9 | 133647887 | 133647887 | Human | 1 | name , alternate_id |
| 14711139 | CV637937 | single nucleotide variant | NM_000787.4(DBH):c.1343G>A (p.Arg448His) | Inborn genetic diseases [RCV005318535]|Orthostatic hypotension 1 [RCV000809838] | uncertain significance | 9 | 133652253 | 133652253 | Human | 2 | name , alternate_id |
| 14707570 | CV637938 | single nucleotide variant | NM_000787.4(DBH):c.1546T>C (p.Phe516Leu) | Orthostatic hypotension 1 [RCV000792359] | uncertain significance | 9 | 133656634 | 133656634 | Human | 1 | name , alternate_id |
| 15173159 | CV700875 | single nucleotide variant | NM_000787.4(DBH):c.1085C>T (p.Ala362Val) | DBH-related disorder [RCV003903201]|Orthostatic hypotension 1 [RCV000950180]|not provided [RCV004569816] | likely benign | 9 | 133647906 | 133647906 | Human | 1 | name , trait , alternate_id |
| 15194796 | CV723427 | single nucleotide variant | NM_000787.4(DBH):c.1819C>T (p.Pro607Ser) | DBH-related disorder [RCV004757303]|Orthostatic hypotension 1 [RCV000889319] | benign|likely benign | 9 | 133658412 | 133658412 | Human | 1 | name , trait , alternate_id |
| 26885232 | CV835743 | single nucleotide variant | NM_000787.4(DBH):c.1772A>T (p.Glu591Val) | Orthostatic hypotension 1 [RCV001065337]|not provided [RCV003433009] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 133658365 | 133658365 | Human | 1 | name , alternate_id |
| 28874696 | CV901449 | single nucleotide variant | NM_000787.4(DBH):c.1001A>T (p.Tyr334Phe) | Inborn genetic diseases [RCV005318638]|Orthostatic hypotension 1 [RCV001165474] | uncertain significance | 9 | 133644297 | 133644297 | Human | 2 | name , alternate_id |
| 28879544 | CV901451 | single nucleotide variant | NM_000787.4(DBH):c.1148C>T (p.Ala383Val) | Inborn genetic diseases [RCV004032892]|Orthostatic hypotension 1 [RCV001167070] | uncertain significance | 9 | 133647969 | 133647969 | Human | 2 | name , alternate_id |
| 28881503 | CV901453 | single nucleotide variant | NM_000787.4(DBH):c.1286G>A (p.Arg429Gln) | Inborn genetic diseases [RCV003259133]|Orthostatic hypotension 1 [RCV001167649] | uncertain significance | 9 | 133651728 | 133651728 | Human | 2 | name , alternate_id |
| 28881505 | CV901454 | single nucleotide variant | NM_000787.4(DBH):c.1300G>A (p.Val434Met) | Inborn genetic diseases [RCV004978078]|Orthostatic hypotension 1 [RCV001167650] | uncertain significance | 9 | 133651742 | 133651742 | Human | 2 | name , alternate_id |
| 28874851 | CV901456 | single nucleotide variant | NM_000787.4(DBH):c.1643A>G (p.Asn548Ser) | Orthostatic hypotension 1 [RCV001165538] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 133657150 | 133657150 | Human | 1 | name , alternate_id |
| 28874854 | CV901457 | single nucleotide variant | NM_000787.4(DBH):c.1688T>C (p.Met563Thr) | Inborn genetic diseases [RCV003363129]|Orthostatic hypotension 1 [RCV001165539] | uncertain significance | 9 | 133657195 | 133657195 | Human | 2 | name , alternate_id |
| 28879767 | CV901458 | single nucleotide variant | NM_000787.4(DBH):c.1813G>A (p.Ala605Thr) | Orthostatic hypotension 1 [RCV001167133] | uncertain significance | 9 | 133658406 | 133658406 | Human | 1 | name , alternate_id |
| 126909480 | CV972467 | single nucleotide variant | NM_000787.4(DBH):c.1486C>T (p.Pro496Ser) | Sensorineural hearing loss disorder [RCV001353209] | uncertain significance | 9 | 133656574 | 133656574 | Human | 2 | name |
| 126748146 | CV993268 | single nucleotide variant | NM_000787.4(DBH):c.1282G>A (p.Gly428Ser) | Orthostatic hypotension 1 [RCV001296873] | uncertain significance | 9 | 133651724 | 133651724 | Human | 1 | name , alternate_id |
| 126742013 | CV993269 | single nucleotide variant | NM_000787.4(DBH):c.1528G>A (p.Gly510Ser) | Orthostatic hypotension 1 [RCV001295987] | uncertain significance | 9 | 133656616 | 133656616 | Human | 1 | name , alternate_id |
| 151794412 | CV1420564 | microsatellite | NM_000787.4(DBH):c.1553TCA[1] (p.Ile519del) | Orthostatic hypotension 1 [RCV002027520] | uncertain significance | 9 | 133656641 | 133656643 | Human | | name , alternate_id |
| 597848699 | CV3824141 | microsatellite | NM_000787.4(DBH):c.1453GAG[1] (p.Glu486del) | Orthostatic hypotension 1 [RCV005173380] | uncertain significance | 9 | 133656540 | 133656542 | Human | | name , alternate_id |
| 151835531 | CV1451763 | deletion | NM_000787.4(DBH):c.1692_1696del (p.His564fs) | Orthostatic hypotension 1 [RCV001994153] | uncertain significance | 9 | 133657195 | 133657199 | Human | 1 | name , alternate_id |
| 156317644 | CV1879772 | inversion | NM_000787.4(DBH):c.1204_1206inv (p.Ser402Gly) | Orthostatic hypotension 1 [RCV003062853] | uncertain significance | 9 | 133651646 | 133651648 | Human | | name , alternate_id |
| 155926468 | CV2284900 | deletion | NM_000787.4(DBH):c.1156_1158del (p.Leu386del) | Inborn genetic diseases [RCV002860378] | uncertain significance | 9 | 133647975 | 133647977 | Human | 1 | name |
| 405107264 | CV2920986 | microsatellite | NM_000787.4(DBH):c.1239_1242del (p.Thr413_His414insTer) | Orthostatic hypotension 1 [RCV003498517] | pathogenic | 9 | 133651676 | 133651679 | Human | | name , alternate_id |
| 405016177 | CV3139072 | duplication | NM_000787.4(DBH):c.1795_1824dup (p.Thr608_Val609insSerGlnGlyArgSerProAlaGlyProThr) | Orthostatic hypotension 1 [RCV003829409] | uncertain significance | 9 | 133658379 | 133658380 | Human | 1 | name , alternate_id |
| 405293529 | CV3214221 | single nucleotide variant | NC_000009.12:g.133630108C>T | DBH-related disorder [RCV003931925] | benign | 9 | 133630108 | 133630108 | Human | | trait , alternate_id |
| 156436297 | CV1945613 | deletion | NC_000009.11:g.(?_136501494)_(136505134_?)del | Orthostatic hypotension 1 [RCV003105330] | pathogenic | | | | Human | 1 | alternate_id |
| 156436298 | CV1945614 | duplication | NC_000009.11:g.(?_136501494)_(136523569_?)dup | Orthostatic hypotension 1 [RCV003105331] | uncertain significance | | | | Human | 1 | alternate_id |
| 156436299 | CV1945615 | duplication | NC_000009.11:g.(?_136501494)_(136501852_?)dup | Orthostatic hypotension 1 [RCV003105332] | uncertain significance | | | | Human | 1 | alternate_id |
| 10448441 | CV214408 | microsatellite | NC_000009.11:g.136496870_136496871(11_15) | Orthostatic hypotension 1 [RCV000201799] | benign | 9 | 133631748 | 133631749 | Human | | alternate_id |
| 11075115 | CV227065 | indel | 19-bp insertion/deletion | Orthostatic hypotension 1 [RCV000201831] | benign | | | | Human | | alternate_id |
| 11075114 | CV227067 | variation | MspI polymorphic site in intron 9 | Orthostatic hypotension 1 [RCV000201801] | benign | | | | Human | | alternate_id |