| 617154536 | CV4022380 | single nucleotide variant | NM_001379291.1(BRD4):c.-5C>G | not provided [RCV005429737] | uncertain significance | 19 | 15273104 | 15273104 | Human | | name |
| 405242314 | CV3014592 | single nucleotide variant | NM_001379291.1(BRD4):c.285+8G>A | not provided [RCV003719362] | likely benign | 19 | 15272807 | 15272807 | Human | | name |
| 597899549 | CV3740951 | single nucleotide variant | NM_001379291.1(BRD4):c.850-9T>G | not provided [RCV005072114] | likely benign | 19 | 15264775 | 15264775 | Human | | name |
| 150510437 | CV1211679 | single nucleotide variant | NM_001379291.1(BRD4):c.285+44G>T | not provided [RCV001597573] | benign | 19 | 15272771 | 15272771 | Human | | name |
| 152982687 | CV1677607 | single nucleotide variant | NM_001379291.1(BRD4):c.4020+1G>A | De Lange syndrome [RCV002249318] | pathogenic | 19 | 15238742 | 15238742 | Human | 1 | name |
| 156404129 | CV1886561 | single nucleotide variant | NM_001379291.1(BRD4):c.2582-7C>T | not provided [RCV003069635] | likely benign | 19 | 15243494 | 15243494 | Human | | name |
| 156286216 | CV1897141 | single nucleotide variant | NM_001379291.1(BRD4):c.2211+5A>G | not provided [RCV003087296] | uncertain significance | 19 | 15244705 | 15244705 | Human | | name |
| 156403627 | CV1920132 | single nucleotide variant | NM_001379291.1(BRD4):c.1752-4G>A | not provided [RCV002605932] | likely benign | 19 | 15255596 | 15255596 | Human | | name |
| 156445942 | CV1950966 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+8T>C | not provided [RCV003116905] | likely benign | 19 | 15263412 | 15263412 | Human | | name |
| 156081724 | CV2022896 | single nucleotide variant | NM_001379291.1(BRD4):c.560-13T>C | not provided [RCV002760647] | likely benign | 19 | 15265656 | 15265656 | Human | | name |
| 156271417 | CV2026969 | single nucleotide variant | NM_001379291.1(BRD4):c.850-12T>C | not provided [RCV002746653] | likely benign | 19 | 15264778 | 15264778 | Human | | name |
| 155921254 | CV2027527 | single nucleotide variant | NM_001379291.1(BRD4):c.850-18C>T | not provided [RCV002750728] | likely benign | 19 | 15264784 | 15264784 | Human | | name |
| 155984140 | CV2030305 | single nucleotide variant | NM_001379291.1(BRD4):c.2047+3G>A | not provided [RCV002755461] | uncertain significance | 19 | 15255294 | 15255294 | Human | | name |
| 156085286 | CV2034011 | single nucleotide variant | NM_001379291.1(BRD4):c.560-19G>A | not provided [RCV002760757] | likely benign | 19 | 15265662 | 15265662 | Human | | name |
| 155964377 | CV2034135 | single nucleotide variant | NM_001379291.1(BRD4):c.560-20C>T | not provided [RCV002731324] | likely benign | 19 | 15265663 | 15265663 | Human | | name |
| 156204981 | CV2092676 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+9A>T | not provided [RCV002917928] | likely benign | 19 | 15254143 | 15254143 | Human | | name |
| 156309519 | CV2109437 | single nucleotide variant | NM_001379291.1(BRD4):c.3782+9G>T | not provided [RCV002922990] | benign | 19 | 15239050 | 15239050 | Human | | name |
| 156117014 | CV2115759 | single nucleotide variant | NM_001379291.1(BRD4):c.560-10T>C | not provided [RCV002927661] | benign | 19 | 15265653 | 15265653 | Human | | name |
| 156312662 | CV2120119 | single nucleotide variant | NM_001379291.1(BRD4):c.3576+3T>C | not provided [RCV002962710] | likely benign | 19 | 15239389 | 15239389 | Human | | name |
| 155956514 | CV2120437 | single nucleotide variant | NM_001379291.1(BRD4):c.2212-8G>C | not provided [RCV002972153] | likely benign | 19 | 15244608 | 15244608 | Human | | name |
| 156131768 | CV2121627 | single nucleotide variant | NM_001379291.1(BRD4):c.1552-9G>C | not provided [RCV002953905] | likely benign | 19 | 15256272 | 15256272 | Human | | name |
| 156223224 | CV2121674 | single nucleotide variant | NM_001379291.1(BRD4):c.3170-5C>G | not provided [RCV002958226] | likely benign | 19 | 15240027 | 15240027 | Human | | name |
| 156100503 | CV2132263 | single nucleotide variant | NM_001379291.1(BRD4):c.3169+8G>T | not provided [RCV003002194] | benign | 19 | 15242892 | 15242892 | Human | | name |
| 156271444 | CV2136554 | single nucleotide variant | NM_001379291.1(BRD4):c.1342-3C>T | not provided [RCV003009280] | uncertain significance | 19 | 15257176 | 15257176 | Human | | name |
| 156314528 | CV2160715 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+3G>A | not provided [RCV003046222] | uncertain significance | 19 | 15263417 | 15263417 | Human | | name |
| 156359394 | CV2162341 | single nucleotide variant | NM_001379291.1(BRD4):c.2582-4C>T | not provided [RCV003031453] | likely benign | 19 | 15243491 | 15243491 | Human | | name |
| 156035573 | CV2178500 | single nucleotide variant | NM_001379291.1(BRD4):c.3283-9C>T | not provided [RCV003036363] | likely benign | 19 | 15239830 | 15239830 | Human | | name |
| 156004978 | CV2179399 | single nucleotide variant | NM_001379291.1(BRD4):c.286-13C>T | not provided [RCV003034949] | likely benign | 19 | 15269055 | 15269055 | Human | | name |
| 156358145 | CV2187287 | single nucleotide variant | NM_001379291.1(BRD4):c.2211+5A>T | not provided [RCV003048833] | uncertain significance | 19 | 15244705 | 15244705 | Human | | name |
| 243063776 | CV2405182 | single nucleotide variant | NM_001379291.1(BRD4):c.3282+2T>C | Cornelia de Lange-like syndrome [RCV003225266] | likely pathogenic | 19 | 15239908 | 15239908 | Human | | name |
| 405072951 | CV2941203 | single nucleotide variant | NM_001379291.1(BRD4):c.1552-5T>C | not provided [RCV003664092] | likely benign | 19 | 15256268 | 15256268 | Human | | name |
| 405094793 | CV2947131 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+9T>G | not provided [RCV003665423] | likely benign | 19 | 15263411 | 15263411 | Human | | name |
| 405192333 | CV2965033 | single nucleotide variant | NM_001379291.1(BRD4):c.850-13G>A | not provided [RCV003677319] | likely benign | 19 | 15264779 | 15264779 | Human | | name |
| 405235431 | CV2972543 | single nucleotide variant | NM_001379291.1(BRD4):c.3445+8C>T | not provided [RCV003682911] | likely benign | 19 | 15239651 | 15239651 | Human | | name |
| 405123882 | CV3021087 | single nucleotide variant | NM_001379291.1(BRD4):c.286-18T>C | not provided [RCV003701045] | likely benign | 19 | 15269060 | 15269060 | Human | | name |
| 405149246 | CV3024196 | single nucleotide variant | NM_001379291.1(BRD4):c.285+16A>C | not provided [RCV003703089] | likely benign | 19 | 15272799 | 15272799 | Human | | name |
| 405141119 | CV3029776 | single nucleotide variant | NM_001379291.1(BRD4):c.2581+7C>T | not provided [RCV003702415] | likely benign | 19 | 15244224 | 15244224 | Human | | name |
| 405199611 | CV3032877 | deletion | NM_001379291.1(BRD4):c.3282+4del | not provided [RCV003707237] | uncertain significance | 19 | 15239906 | 15239906 | Human | | name |
| 405165553 | CV3059391 | single nucleotide variant | NM_001379291.1(BRD4):c.3782+9G>A | not provided [RCV003727293] | likely benign | 19 | 15239050 | 15239050 | Human | | name |
| 596920322 | CV3534503 | single nucleotide variant | NM_001379291.1(BRD4):c.1213-4C>A | not specified [RCV004782064] | uncertain significance | 19 | 15263552 | 15263552 | Human | | name |
| 597909384 | CV3806470 | single nucleotide variant | NM_001379291.1(BRD4):c.1212+7G>A | not provided [RCV005154037] | likely benign | 19 | 15264397 | 15264397 | Human | | name |
| 597960894 | CV3811988 | single nucleotide variant | NM_001379291.1(BRD4):c.850-14C>T | not provided [RCV005163641] | likely benign | 19 | 15264780 | 15264780 | Human | | name |
| 597862026 | CV3822595 | single nucleotide variant | NM_001379291.1(BRD4):c.559+19A>G | not provided [RCV005175125] | likely benign | 19 | 15267397 | 15267397 | Human | | name |
| 597862997 | CV3822748 | single nucleotide variant | NM_001379291.1(BRD4):c.850-17G>A | not provided [RCV005175280] | likely benign | 19 | 15264783 | 15264783 | Human | | name |
| 597880594 | CV3826407 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+8G>A | not provided [RCV005178104] | likely benign | 19 | 15254144 | 15254144 | Human | | name |
| 597893016 | CV3833369 | single nucleotide variant | NM_001379291.1(BRD4):c.3783-3C>T | not provided [RCV005180061] | uncertain significance | 19 | 15238983 | 15238983 | Human | | name |
| 597914247 | CV3833905 | single nucleotide variant | NM_001379291.1(BRD4):c.1551+6G>C | not provided [RCV005183264] | uncertain significance | 19 | 15256958 | 15256958 | Human | | name |
| 597942153 | CV3847192 | single nucleotide variant | NM_001379291.1(BRD4):c.3782+7G>A | not provided [RCV005188112] | likely benign | 19 | 15239052 | 15239052 | Human | | name |
| 598224752 | CV3891955 | single nucleotide variant | NM_001379291.1(BRD4):c.4020+1G>C | Cornelia de Lange syndrome 6 [RCV005253294] | uncertain significance | 19 | 15238742 | 15238742 | Human | 1 | name |
| 15130069 | CV760582 | single nucleotide variant | NM_001379291.1(BRD4):c.1342-8C>T | BRD4-related disorder [RCV003942834]|not provided [RCV000919940] | benign|likely benign | 19 | 15257181 | 15257181 | Human | 1 | name , trait , alternate_id |
| 15099518 | CV778508 | single nucleotide variant | NM_001379291.1(BRD4):c.4020+9G>T | BRD4-related disorder [RCV003905792]|not provided [RCV000958773] | benign|likely benign | 19 | 15238734 | 15238734 | Human | 1 | name , trait , alternate_id |
| 15202466 | CV778510 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+6G>C | not provided [RCV000957924] | benign | 19 | 15263414 | 15263414 | Human | | name |
| 150340337 | CV1168421 | single nucleotide variant | NM_001379291.1(BRD4):c.285+110G>A | not provided [RCV001535257] | benign | 19 | 15272705 | 15272705 | Human | | name |
| 150336465 | CV1173195 | single nucleotide variant | NM_001379291.1(BRD4):c.3446-34G>A | not provided [RCV001541001] | benign | 19 | 15239556 | 15239556 | Human | | name |
| 150454531 | CV1259404 | duplication | NM_001379291.1(BRD4):c.286-206dup | not provided [RCV001681178] | benign | 19 | 15269244 | 15269245 | Human | | name |
| 150508849 | CV1284386 | duplication | NM_001379291.1(BRD4):c.2047+89dup | not provided [RCV001720494] | benign | 19 | 15255199 | 15255200 | Human | | name |
| 152049205 | CV1615103 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+15G>A | not provided [RCV002088931] | likely benign | 19 | 15254137 | 15254137 | Human | | name |
| 156079494 | CV2022616 | single nucleotide variant | NM_001379291.1(BRD4):c.3446-18C>T | not provided [RCV002760578] | benign | 19 | 15239540 | 15239540 | Human | | name |
| 156151178 | CV2023060 | single nucleotide variant | NM_001379291.1(BRD4):c.1552-15C>T | not provided [RCV002741229] | likely benign | 19 | 15256278 | 15256278 | Human | | name |
| 156154900 | CV2023264 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+20A>G | not provided [RCV002741344] | likely benign | 19 | 15254132 | 15254132 | Human | | name |
| 156050288 | CV2027276 | single nucleotide variant | NM_001379291.1(BRD4):c.1752-13C>T | not provided [RCV002736488] | uncertain significance | 19 | 15255605 | 15255605 | Human | | name |
| 156245820 | CV2029376 | single nucleotide variant | NM_001379291.1(BRD4):c.1752-20T>C | not provided [RCV002745822] | benign | 19 | 15255612 | 15255612 | Human | | name |
| 155959073 | CV2029750 | single nucleotide variant | NM_001379291.1(BRD4):c.3576+18T>C | not provided [RCV002731088] | benign | 19 | 15239374 | 15239374 | Human | | name |
| 155910371 | CV2032867 | single nucleotide variant | NM_001379291.1(BRD4):c.2048-16A>G | not provided [RCV002750090] | likely benign | 19 | 15254278 | 15254278 | Human | | name |
| 155914730 | CV2033217 | single nucleotide variant | NM_001379291.1(BRD4):c.3169+17C>T | not provided [RCV002750398] | likely benign | 19 | 15242883 | 15242883 | Human | | name |
| 155914809 | CV2033247 | single nucleotide variant | NM_001379291.1(BRD4):c.3170-17C>T | not provided [RCV002750403] | likely benign | 19 | 15240039 | 15240039 | Human | | name |
| 155955129 | CV2033352 | single nucleotide variant | NM_001379291.1(BRD4):c.3169+18G>A | not provided [RCV002730887] | benign | 19 | 15242882 | 15242882 | Human | | name |
| 155963715 | CV2034083 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+18G>A | not provided [RCV002731296] | likely benign | 19 | 15263402 | 15263402 | Human | | name |
| 156313079 | CV2079041 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+11G>A | not provided [RCV002898830] | likely benign | 19 | 15263409 | 15263409 | Human | | name |
| 156236170 | CV2081805 | single nucleotide variant | NM_001379291.1(BRD4):c.2047+10G>T | not provided [RCV002876428] | likely benign | 19 | 15255287 | 15255287 | Human | | name |
| 155980468 | CV2090312 | single nucleotide variant | NM_001379291.1(BRD4):c.2211+17G>A | not provided [RCV002881908] | likely benign | 19 | 15244693 | 15244693 | Human | | name |
| 156162672 | CV2135516 | single nucleotide variant | NM_001379291.1(BRD4):c.1752-10C>T | not provided [RCV002983063] | likely benign | 19 | 15255602 | 15255602 | Human | | name |
| 156199624 | CV2153736 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+10G>T | not provided [RCV003006277] | likely benign | 19 | 15263410 | 15263410 | Human | | name |
| 156309794 | CV2163964 | single nucleotide variant | NM_001379291.1(BRD4):c.1341+16G>A | not provided [RCV003045965] | likely benign | 19 | 15263404 | 15263404 | Human | | name |
| 156102093 | CV2180133 | single nucleotide variant | NM_001379291.1(BRD4):c.4021-13C>T | not provided [RCV003054764]|not specified [RCV004526219] | likely benign | 19 | 15238458 | 15238458 | Human | | name |
| 405019486 | CV2866205 | duplication | NM_001379291.1(BRD4):c.1751+12dup | not provided [RCV003577467] | benign | 19 | 15256051 | 15256052 | Human | | name |
| 405111076 | CV2903013 | single nucleotide variant | NM_001379291.1(BRD4):c.1552-12T>A | not provided [RCV003557902] | likely benign | 19 | 15256275 | 15256275 | Human | | name |
| 402509099 | CV2938478 | single nucleotide variant | NM_001379291.1(BRD4):c.1551+16G>T | not provided [RCV003662383] | likely benign | 19 | 15256948 | 15256948 | Human | | name |
| 405065351 | CV2939895 | single nucleotide variant | NM_001379291.1(BRD4):c.3446-10T>C | not provided [RCV003659016] | likely benign | 19 | 15239532 | 15239532 | Human | | name |
| 405073283 | CV2941076 | single nucleotide variant | NM_001379291.1(BRD4):c.3446-17G>A | not provided [RCV003664019] | likely benign | 19 | 15239539 | 15239539 | Human | | name |
| 402487873 | CV2941381 | single nucleotide variant | NM_001379291.1(BRD4):c.3169+14A>G | not provided [RCV003660180] | likely benign | 19 | 15242886 | 15242886 | Human | | name |
| 405081521 | CV2941835 | single nucleotide variant | NM_001379291.1(BRD4):c.3170-14G>C | not provided [RCV003664628] | likely benign | 19 | 15240036 | 15240036 | Human | | name |
| 405145599 | CV2955239 | single nucleotide variant | NM_001379291.1(BRD4):c.3576+20G>T | not provided [RCV003673531] | likely benign | 19 | 15239372 | 15239372 | Human | | name |
| 405120830 | CV2993974 | single nucleotide variant | NM_001379291.1(BRD4):c.3283-16G>A | not provided [RCV003723798] | likely benign | 19 | 15239837 | 15239837 | Human | | name |
| 405134479 | CV3018507 | single nucleotide variant | NM_001379291.1(BRD4):c.2048-13G>T | not provided [RCV003701982] | benign | 19 | 15254275 | 15254275 | Human | | name |
| 405146959 | CV3023944 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+14T>G | not provided [RCV003702934] | likely benign | 19 | 15254138 | 15254138 | Human | | name |
| 405090246 | CV3025279 | single nucleotide variant | NM_001379291.1(BRD4):c.1752-12G>T | not provided [RCV003699686] | uncertain significance | 19 | 15255604 | 15255604 | Human | | name |
| 405179711 | CV3027598 | single nucleotide variant | NM_001379291.1(BRD4):c.3576+18T>A | not provided [RCV003705324] | likely benign | 19 | 15239374 | 15239374 | Human | | name |
| 405171702 | CV3030229 | single nucleotide variant | NM_001379291.1(BRD4):c.1552-16C>T | not provided [RCV003704735] | likely benign | 19 | 15256279 | 15256279 | Human | | name |
| 405067020 | CV3030760 | single nucleotide variant | NM_001379291.1(BRD4):c.3283-12G>A | not provided [RCV003698007] | likely benign | 19 | 15239833 | 15239833 | Human | | name |
| 405069324 | CV3031068 | single nucleotide variant | NM_001379291.1(BRD4):c.1752-12G>A | not provided [RCV003698223] | benign | 19 | 15255604 | 15255604 | Human | | name |
| 405220322 | CV3032044 | single nucleotide variant | NM_001379291.1(BRD4):c.4020+11A>T | not provided [RCV003709830] | likely benign | 19 | 15238732 | 15238732 | Human | | name |
| 405199728 | CV3032817 | single nucleotide variant | NM_001379291.1(BRD4):c.2212-12C>T | not provided [RCV003707195] | likely benign | 19 | 15244612 | 15244612 | Human | | name |
| 405218530 | CV3034911 | single nucleotide variant | NM_001379291.1(BRD4):c.1213-19G>A | not provided [RCV003709638] | likely benign | 19 | 15263567 | 15263567 | Human | | name |
| 405220103 | CV3035138 | single nucleotide variant | NM_001379291.1(BRD4):c.3282+19C>T | not provided [RCV003709785] | likely benign | 19 | 15239891 | 15239891 | Human | | name |
| 405201287 | CV3041223 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-16C>T | not provided [RCV003707384] | likely benign | 19 | 15244778 | 15244778 | Human | | name |
| 597908226 | CV3769883 | single nucleotide variant | NM_001379291.1(BRD4):c.3283-16G>C | not provided [RCV005113386] | likely benign | 19 | 15239837 | 15239837 | Human | | name |
| 597958865 | CV3797400 | single nucleotide variant | NM_001379291.1(BRD4):c.1212+10A>C | not provided [RCV005138087] | likely benign | 19 | 15264394 | 15264394 | Human | | name |
| 597951773 | CV3815427 | single nucleotide variant | NM_001379291.1(BRD4):c.1751+12C>T | not provided [RCV005161377] | likely benign | 19 | 15256052 | 15256052 | Human | | name |
| 597929309 | CV3816174 | single nucleotide variant | NM_001379291.1(BRD4):c.2582-17G>T | not provided [RCV005156755] | likely benign | 19 | 15243504 | 15243504 | Human | | name |
| 597876959 | CV3825709 | single nucleotide variant | NM_001379291.1(BRD4):c.2212-12C>G | not provided [RCV005177583] | likely benign | 19 | 15244612 | 15244612 | Human | | name |
| 597909166 | CV3829987 | single nucleotide variant | NM_001379291.1(BRD4):c.1752-15A>G | not provided [RCV005182556] | likely benign | 19 | 15255607 | 15255607 | Human | | name |
| 597971948 | CV3833260 | single nucleotide variant | NM_001379291.1(BRD4):c.3445+15T>C | not provided [RCV005167157] | likely benign | 19 | 15239644 | 15239644 | Human | | name |
| 597883868 | CV3834832 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+18C>A | not provided [RCV005178555] | likely benign | 19 | 15254134 | 15254134 | Human | | name |
| 15135861 | CV760823 | single nucleotide variant | NM_001379291.1(BRD4):c.1212+10A>T | not provided [RCV000920918] | benign | 19 | 15264394 | 15264394 | Human | | name |
| 150452103 | CV1276684 | single nucleotide variant | NM_001379291.1(BRD4):c.1342-108C>T | not provided [RCV001708473] | benign | 19 | 15257281 | 15257281 | Human | | name |
| 150443928 | CV1277922 | single nucleotide variant | NM_001379291.1(BRD4):c.1342-144C>T | not provided [RCV001707065] | benign | 19 | 15257317 | 15257317 | Human | | name |
| 152101667 | CV1667116 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+767G>A | not provided [RCV002214102] | benign | 19 | 15253385 | 15253385 | Human | | name |
| 329352228 | CV2476742 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+155C>G | not provided [RCV003222974] | likely benign | 19 | 15253997 | 15253997 | Human | | name |
| 401725891 | CV2735991 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+510C>G | not provided [RCV003312436] | benign|likely benign | 19 | 15253642 | 15253642 | Human | | name |
| 401908493 | CV2811723 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-620C>T | not provided [RCV003423398] | benign|likely benign | 19 | 15245382 | 15245382 | Human | | name |
| 401907021 | CV2811724 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-928G>C | not provided [RCV003421884] | benign | 19 | 15245690 | 15245690 | Human | | name |
| 401908509 | CV2811749 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+421T>G | not provided [RCV003423410] | uncertain significance | 19 | 15253731 | 15253731 | Human | | name |
| 405264099 | CV3184973 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+577C>T | not provided [RCV003885537] | likely benign | 19 | 15253575 | 15253575 | Human | | name |
| 405259594 | CV3195113 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+499G>A | BRD4-related disorder [RCV003894310] | likely benign | 19 | 15253653 | 15253653 | Human | | name , trait , alternate_id |
| 405265690 | CV3220830 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+424C>T | BRD4-related disorder [RCV003969004] | likely benign | 19 | 15253728 | 15253728 | Human | | name , trait , alternate_id |
| 408377953 | CV3500887 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+437C>T | not provided [RCV004722537] | likely benign | 19 | 15253715 | 15253715 | Human | | name |
| 596948086 | CV3547680 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+527A>G | not provided [RCV004811985] | likely benign | 19 | 15253625 | 15253625 | Human | | name |
| 152101654 | CV1667114 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-1639C>T | not provided [RCV002214100] | benign | 19 | 15246401 | 15246401 | Human | | name |
| 152101660 | CV1667115 | deletion | NM_001379291.1(BRD4):c.2159-4254del | not provided [RCV002214101] | benign | 19 | 15249016 | 15249016 | Human | | name |
| 153304889 | CV1687336 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-3571A>C | not provided [RCV002263154] | benign | 19 | 15248333 | 15248333 | Human | | name |
| 153304890 | CV1687337 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2908A>T | not provided [RCV002263155] | benign | 19 | 15251244 | 15251244 | Human | | name |
| 153349142 | CV1693751 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-1047A>T | not provided [RCV002275534] | benign|likely benign | 19 | 15245809 | 15245809 | Human | | name |
| 153349143 | CV1693752 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-1816C>T | not provided [RCV002275535] | benign|likely benign | 19 | 15246578 | 15246578 | Human | | name |
| 155641653 | CV1709888 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2292C>T | not provided [RCV002292988] | benign | 19 | 15251860 | 15251860 | Human | | name |
| 329352223 | CV2476741 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+3487C>A | not provided [RCV003222973] | likely benign | 19 | 15250665 | 15250665 | Human | | name |
| 401725888 | CV2735990 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-3665C>T | not provided [RCV003312435] | benign|likely benign | 19 | 15248427 | 15248427 | Human | | name |
| 401928558 | CV2811725 | duplication | NM_001379291.1(BRD4):c.2159-1767dup | not provided [RCV003406879] | likely benign | 19 | 15246528 | 15246529 | Human | | name |
| 401928559 | CV2811726 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-2870T>C | not provided [RCV003406880] | likely benign | 19 | 15247632 | 15247632 | Human | | name |
| 401928561 | CV2811727 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-3595C>G | not provided [RCV003406881] | benign | 19 | 15248357 | 15248357 | Human | | name |
| 401907022 | CV2811728 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-3686C>G | not provided [RCV003421885] | likely benign | 19 | 15248448 | 15248448 | Human | | name |
| 401907024 | CV2811729 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-4307A>T | not provided [RCV003421886] | benign | 19 | 15249069 | 15249069 | Human | | name |
| 401908495 | CV2811730 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-4308C>G | not provided [RCV003423399] | benign | 19 | 15249070 | 15249070 | Human | | name |
| 401908496 | CV2811731 | single nucleotide variant | NM_001379291.1(BRD4):c.2159-4655G>A | not provided [RCV003423400] | benign | 19 | 15249417 | 15249417 | Human | | name |
| 401908497 | CV2811732 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+4241A>G | not provided [RCV003423401] | benign | 19 | 15249911 | 15249911 | Human | | name |
| 401907025 | CV2811733 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+3019G>C | not provided [RCV003421887] | likely benign | 19 | 15251133 | 15251133 | Human | | name |
| 401908498 | CV2811734 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2782G>C | not provided [RCV003423402] | benign|likely benign | 19 | 15251370 | 15251370 | Human | | name |
| 401908505 | CV2811740 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2707C>G | not provided [RCV003423407] | benign|likely benign | 19 | 15251445 | 15251445 | Human | | name |
| 401907027 | CV2811742 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2690G>C | not provided [RCV003421889] | likely benign | 19 | 15251462 | 15251462 | Human | | name |
| 401937100 | CV2811743 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2425G>A | not provided [RCV003415120] | benign|likely benign | 19 | 15251727 | 15251727 | Human | | name |
| 401908507 | CV2811744 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2377G>A | not provided [RCV003423408] | benign | 19 | 15251775 | 15251775 | Human | | name |
| 401928564 | CV2811745 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2376C>T | not provided [RCV003406882] | likely benign | 19 | 15251776 | 15251776 | Human | 1 | name |
| 401928564 | CV2811745 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2376C>T | not provided [RCV003406882] | likely benign | 19 | 15251776 | 15251777 | Human | 1 | name |
| 401928566 | CV2811746 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2269G>A | not provided [RCV003406883] | likely benign | 19 | 15251883 | 15251883 | Human | | name |
| 401908508 | CV2811747 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+2054C>T | not provided [RCV003423409] | likely benign | 19 | 15252098 | 15252098 | Human | | name |
| 401937101 | CV2811748 | single nucleotide variant | NM_001379291.1(BRD4):c.2158+1912C>T | not provided [RCV003415121] | benign | 19 | 15252240 | 15252240 | Human | | name |
| 405244676 | CV2968347 | microsatellite | NM_001379291.1(BRD4):c.2212-14CT[4] | not provided [RCV003684916] | likely benign | 19 | 15244608 | 15244609 | Human | | name |
| 597898114 | CV3826585 | microsatellite | NM_001379291.1(BRD4):c.2212-14CT[2] | not provided [RCV005180718] | likely benign | 19 | 15244609 | 15244610 | Human | | name |
| 155949207 | CV2026102 | microsatellite | NM_001379291.1(BRD4):c.2212-28GTCT[3] | not provided [RCV002730586] | likely benign | 19 | 15244613 | 15244616 | Human | | name |
| 155993396 | CV2059817 | single nucleotide variant | NM_001379291.1(BRD4):c.9G>A (p.Ala3=) | not provided [RCV002819310] | likely benign | 19 | 15273091 | 15273091 | Human | | name |
| 597892691 | CV3809824 | microsatellite | NM_001379291.1(BRD4):c.2212-28GTCT[5] | not provided [RCV005151545] | likely benign | 19 | 15244612 | 15244613 | Human | | name |
| 597899680 | CV3774531 | single nucleotide variant | NM_001379291.1(BRD4):c.15C>T (p.Ser5=) | not provided [RCV005112066] | likely benign | 19 | 15273085 | 15273085 | Human | | name |
| 150464993 | CV1215370 | microsatellite | NM_001379291.1(BRD4):c.424-76_424-73del | not provided [RCV001614069] | benign | 19 | 15267624 | 15267627 | Human | | name |
| 156166541 | CV1907766 | single nucleotide variant | NM_001379291.1(BRD4):c.20C>G (p.Pro7Arg) | not provided [RCV003083090] | uncertain significance | 19 | 15273080 | 15273080 | Human | | name |
| 155917947 | CV2030040 | single nucleotide variant | NM_001379291.1(BRD4):c.255G>A (p.Gln85=) | not provided [RCV002750562] | likely benign | 19 | 15272845 | 15272845 | Human | | name |
| 156188987 | CV2030176 | single nucleotide variant | NM_001379291.1(BRD4):c.240A>G (p.Ala80=) | not provided [RCV002765850] | likely benign | 19 | 15272860 | 15272860 | Human | | name |
| 155935667 | CV2075140 | single nucleotide variant | NM_001379291.1(BRD4):c.210G>C (p.Val70=) | not provided [RCV002839056] | likely benign | 19 | 15272890 | 15272890 | Human | | name |
| 156007033 | CV2099805 | single nucleotide variant | NM_001379291.1(BRD4):c.117C>T (p.Asn39=) | not provided [RCV002908906] | likely benign | 19 | 15272983 | 15272983 | Human | | name |
| 156014345 | CV2121285 | single nucleotide variant | NM_001379291.1(BRD4):c.273G>A (p.Lys91=) | not provided [RCV002948450] | likely benign | 19 | 15272827 | 15272827 | Human | | name |
| 405209640 | CV2871437 | single nucleotide variant | NM_001379291.1(BRD4):c.17G>C (p.Gly6Ala) | not provided [RCV003552408] | uncertain significance | 19 | 15273083 | 15273083 | Human | | name |
| 405119760 | CV2891561 | single nucleotide variant | NM_001379291.1(BRD4):c.267C>T (p.Ala89=) | not provided [RCV003558922] | likely benign | 19 | 15272833 | 15272833 | Human | | name |
| 405066089 | CV2923692 | single nucleotide variant | NM_001379291.1(BRD4):c.285T>A (p.Pro95=) | not provided [RCV003580822] | uncertain significance | 19 | 15272815 | 15272815 | Human | | name |
| 405058814 | CV2928991 | single nucleotide variant | NM_001379291.1(BRD4):c.213C>T (p.Leu71=) | not provided [RCV003580320] | likely benign | 19 | 15272887 | 15272887 | Human | | name |
| 405060551 | CV2929232 | single nucleotide variant | NM_001379291.1(BRD4):c.213C>G (p.Leu71=) | not provided [RCV003580439] | likely benign | 19 | 15272887 | 15272887 | Human | | name |
| 405221369 | CV2966132 | single nucleotide variant | NM_001379291.1(BRD4):c.264T>C (p.Asp88=) | not provided [RCV003680737] | likely benign | 19 | 15272836 | 15272836 | Human | | name |
| 405139456 | CV3045436 | single nucleotide variant | NM_001379291.1(BRD4):c.26C>A (p.Thr9Lys) | not provided [RCV003725521] | uncertain significance | 19 | 15273074 | 15273074 | Human | | name |
| 405034605 | CV3075268 | single nucleotide variant | NM_001379291.1(BRD4):c.153C>T (p.Ser51=) | not provided [RCV003739352] | likely benign | 19 | 15272947 | 15272947 | Human | | name |
| 402519038 | CV3175317 | single nucleotide variant | NM_001379291.1(BRD4):c.249C>T (p.Phe83=) | not provided [RCV003879600] | likely benign | 19 | 15272851 | 15272851 | Human | | name |
| 405286413 | CV3205335 | single nucleotide variant | NM_001379291.1(BRD4):c.132C>T (p.Asn44=) | BRD4-related disorder [RCV003959529] | likely benign | 19 | 15272968 | 15272968 | Human | | name , trait , alternate_id |
| 597862770 | CV3822713 | single nucleotide variant | NM_001379291.1(BRD4):c.180C>G (p.Thr60=) | not provided [RCV005175245] | likely benign | 19 | 15272920 | 15272920 | Human | | name |
| 597867044 | CV3838623 | single nucleotide variant | NM_001379291.1(BRD4):c.219A>G (p.Thr73=) | not provided [RCV005175919] | likely benign | 19 | 15272881 | 15272881 | Human | | name |
| 597943162 | CV3847429 | single nucleotide variant | NM_001379291.1(BRD4):c.138G>A (p.Pro46=) | not provided [RCV005188348] | likely benign | 19 | 15272962 | 15272962 | Human | | name |
| 150468902 | CV1218984 | duplication | NM_001379291.1(BRD4):c.2047+89_2047+90dup | not provided [RCV001614736] | benign | 19 | 15255199 | 15255200 | Human | | name |
| 152101672 | CV1667117 | single nucleotide variant | NM_001379291.1(BRD4):c.645T>G (p.Pro215=) | not provided [RCV002214103] | likely benign | 19 | 15265558 | 15265558 | Human | | name |
| 156203433 | CV1905726 | single nucleotide variant | NM_001379291.1(BRD4):c.309G>A (p.Thr103=) | not provided [RCV003084303] | likely benign | 19 | 15269019 | 15269019 | Human | | name |
| 156418467 | CV1911149 | single nucleotide variant | NM_001379291.1(BRD4):c.95A>G (p.Gln32Arg) | Inborn genetic diseases [RCV004603302]|not provided [RCV002611662] | uncertain significance | 19 | 15273005 | 15273005 | Human | 1 | name |
| 155943192 | CV1920864 | single nucleotide variant | NM_001379291.1(BRD4):c.825C>T (p.Ile275=) | not provided [RCV002615773] | likely benign | 19 | 15265378 | 15265378 | Human | | name |
| 156444347 | CV1938204 | single nucleotide variant | NM_001379291.1(BRD4):c.624C>G (p.Thr208=) | not provided [RCV003115271] | likely benign | 19 | 15265579 | 15265579 | Human | | name |
| 156434518 | CV1940065 | single nucleotide variant | NM_001379291.1(BRD4):c.663G>A (p.Thr221=) | not provided [RCV003104480] | likely benign | 19 | 15265540 | 15265540 | Human | | name |
| 156445889 | CV1952140 | single nucleotide variant | NM_001379291.1(BRD4):c.414C>T (p.Ile138=) | not provided [RCV003116852] | likely benign | 19 | 15268914 | 15268914 | Human | | name |
| 156169481 | CV1968230 | single nucleotide variant | NM_001379291.1(BRD4):c.606A>G (p.Ala202=) | not provided [RCV002594726] | likely benign | 19 | 15265597 | 15265597 | Human | | name |
| 156187185 | CV2033924 | single nucleotide variant | NM_001379291.1(BRD4):c.600T>A (p.Thr200=) | not provided [RCV002765797] | likely benign | 19 | 15265603 | 15265603 | Human | | name |
| 155939863 | CV2041748 | single nucleotide variant | NM_001379291.1(BRD4):c.976C>A (p.Arg326=) | not provided [RCV002775118] | likely benign | 19 | 15264640 | 15264640 | Human | | name |
| 156325886 | CV2054122 | deletion | NM_001379291.1(BRD4):c.2211+13_2211+14del | not provided [RCV002810391] | likely benign | 19 | 15244696 | 15244697 | Human | | name |
| 156316544 | CV2086241 | single nucleotide variant | NM_001379291.1(BRD4):c.98C>T (p.Ala33Val) | not provided [RCV002899027] | uncertain significance | 19 | 15273002 | 15273002 | Human | | name |
| 156235641 | CV2104988 | single nucleotide variant | NM_001379291.1(BRD4):c.819C>T (p.Pro273=) | not provided [RCV002919105] | likely benign | 19 | 15265384 | 15265384 | Human | | name |
| 155961987 | CV2131934 | single nucleotide variant | NM_001379291.1(BRD4):c.312T>A (p.Pro104=) | not provided [RCV002995201] | likely benign | 19 | 15269016 | 15269016 | Human | | name |
| 401928567 | CV2811752 | single nucleotide variant | NM_001379291.1(BRD4):c.903C>T (p.Asp301=) | not provided [RCV003406884] | benign|likely benign | 19 | 15264713 | 15264713 | Human | | name |
| 401908512 | CV2811753 | single nucleotide variant | NM_001379291.1(BRD4):c.900T>C (p.Ile300=) | not provided [RCV003423412] | likely benign | 19 | 15264716 | 15264716 | Human | | name |
| 401908514 | CV2811754 | single nucleotide variant | NM_001379291.1(BRD4):c.780A>C (p.Pro260=) | not provided [RCV003423413] | likely benign | 19 | 15265423 | 15265423 | Human | | name |
| 401908515 | CV2811755 | single nucleotide variant | NM_001379291.1(BRD4):c.771A>C (p.Pro257=) | not provided [RCV003423414] | likely benign | 19 | 15265432 | 15265432 | Human | | name |
| 401928570 | CV2811757 | single nucleotide variant | NM_001379291.1(BRD4):c.756A>C (p.Pro252=) | not provided [RCV003406885] | likely benign | 19 | 15265447 | 15265447 | Human | | name |
| 401937183 | CV2811758 | single nucleotide variant | NM_001379291.1(BRD4):c.585G>A (p.Thr195=) | not provided [RCV003415123] | likely benign | 19 | 15265618 | 15265618 | Human | | name |
| 401944220 | CV2840269 | single nucleotide variant | NM_001379291.1(BRD4):c.738A>C (p.Pro246=) | not provided [RCV003457019] | likely benign | 19 | 15265465 | 15265465 | Human | | name |
| 405176749 | CV2915787 | single nucleotide variant | NM_001379291.1(BRD4):c.765C>G (p.Pro255=) | not provided [RCV003563603] | likely benign | 19 | 15265438 | 15265438 | Human | | name |
| 402504309 | CV2947450 | single nucleotide variant | NM_001379291.1(BRD4):c.654G>A (p.Val218=) | not provided [RCV003661917] | likely benign | 19 | 15265549 | 15265549 | Human | | name |
| 405100549 | CV2947941 | single nucleotide variant | NM_001379291.1(BRD4):c.507C>T (p.Thr169=) | not provided [RCV003665996] | likely benign | 19 | 15267468 | 15267468 | Human | | name |
| 405144434 | CV2955211 | single nucleotide variant | NM_001379291.1(BRD4):c.795C>G (p.Pro265=) | not provided [RCV003673511] | likely benign | 19 | 15265408 | 15265408 | Human | | name |
| 402519890 | CV3002452 | single nucleotide variant | NM_001379291.1(BRD4):c.759G>A (p.Val253=) | not provided [RCV003690212] | likely benign | 19 | 15265444 | 15265444 | Human | | name |
| 402481025 | CV3041507 | single nucleotide variant | NM_001379291.1(BRD4):c.450A>G (p.Ala150=) | not provided [RCV003712823] | likely benign | 19 | 15267525 | 15267525 | Human | | name |
| 405200662 | CV3147234 | single nucleotide variant | NM_001379291.1(BRD4):c.690G>A (p.Pro230=) | not provided [RCV003844394] | likely benign | 19 | 15265513 | 15265513 | Human | | name |
| 405044907 | CV3150241 | single nucleotide variant | NM_001379291.1(BRD4):c.993A>G (p.Pro331=) | not provided [RCV003849035] | likely benign | 19 | 15264623 | 15264623 | Human | | name |
| 405156286 | CV3163479 | single nucleotide variant | NM_001379291.1(BRD4):c.675C>T (p.Phe225=) | not provided [RCV003856725] | likely benign | 19 | 15265528 | 15265528 | Human | | name |
| 402487209 | CV3181890 | single nucleotide variant | NM_001379291.1(BRD4):c.783C>T (p.Pro261=) | not provided [RCV003876559] | likely benign | 19 | 15265420 | 15265420 | Human | | name |
| 405260966 | CV3215560 | single nucleotide variant | NM_001379291.1(BRD4):c.28A>G (p.Arg10Gly) | BRD4-related disorder [RCV003944290] | uncertain significance | 19 | 15273072 | 15273072 | Human | | name , trait , alternate_id |
| 405765144 | CV3302125 | single nucleotide variant | NM_001379291.1(BRD4):c.94C>G (p.Gln32Glu) | Inborn genetic diseases [RCV004434308] | uncertain significance | 19 | 15273006 | 15273006 | Human | 1 | name |
| 407428622 | CV3410301 | single nucleotide variant | NM_001379291.1(BRD4):c.468C>T (p.Leu156=) | not specified [RCV004587908] | likely benign | 19 | 15267507 | 15267507 | Human | | name |
| 408381988 | CV3502073 | duplication | NM_001379291.1(BRD4):c.137dup (p.Pro47fs) | not provided [RCV004729601] | pathogenic | 19 | 15272962 | 15272963 | Human | | name |
| 597943949 | CV3754918 | single nucleotide variant | NM_001379291.1(BRD4):c.939C>G (p.Pro313=) | not provided [RCV005078107] | likely benign | 19 | 15264677 | 15264677 | Human | | name |
| 597837961 | CV3758124 | single nucleotide variant | NM_001379291.1(BRD4):c.753G>A (p.Pro251=) | not provided [RCV005085958] | likely benign | 19 | 15265450 | 15265450 | Human | | name |
| 597896293 | CV3786068 | deletion | NM_001379291.1(BRD4):c.4021-16_4021-14del | not provided [RCV005126442] | likely benign | 19 | 15238459 | 15238461 | Human | | name |
| 597934862 | CV3807146 | single nucleotide variant | NM_001379291.1(BRD4):c.600T>G (p.Thr200=) | not provided [RCV005157717] | likely benign | 19 | 15265603 | 15265603 | Human | | name |
| 597961062 | CV3812033 | single nucleotide variant | NM_001379291.1(BRD4):c.435C>T (p.Asp145=) | not provided [RCV005163686] | likely benign | 19 | 15267540 | 15267540 | Human | | name |
| 597909356 | CV3830011 | single nucleotide variant | NM_001379291.1(BRD4):c.681C>T (p.Ala227=) | not provided [RCV005182580] | likely benign | 19 | 15265522 | 15265522 | Human | | name |
| 597888619 | CV3839459 | single nucleotide variant | NM_001379291.1(BRD4):c.444A>G (p.Leu148=) | not provided [RCV005179351] | likely benign | 19 | 15267531 | 15267531 | Human | | name |
| 597950774 | CV3847046 | single nucleotide variant | NM_001379291.1(BRD4):c.912C>T (p.His304=) | not provided [RCV005190218] | likely benign | 19 | 15264704 | 15264704 | Human | | name |
| 597965730 | CV3848413 | single nucleotide variant | NM_001379291.1(BRD4):c.888C>A (p.Thr296=) | not provided [RCV005194293] | likely benign | 19 | 15264728 | 15264728 | Human | | name |
| 15176516 | CV704814 | single nucleotide variant | NM_001379291.1(BRD4):c.801C>T (p.Pro267=) | BRD4-related disorder [RCV003933305]|not provided [RCV000950842]|not specified [RCV003151231] | benign | 19 | 15265402 | 15265402 | Human | 1 | name , trait , alternate_id |
| 15152629 | CV716236 | single nucleotide variant | NM_001379291.1(BRD4):c.966G>A (p.Arg322=) | not provided [RCV000968389] | benign|likely benign | 19 | 15264650 | 15264650 | Human | | name |
| 150507937 | CV1213899 | deletion | NM_001379291.1(BRD4):c.967del (p.Glu323fs) | not provided [RCV001596420] | uncertain significance | 19 | 15264649 | 15264649 | Human | | name |
| 150464941 | CV1277157 | single nucleotide variant | NM_001379291.1(BRD4):c.1950C>T (p.Asp650=) | not provided [RCV001710451] | benign | 19 | 15255394 | 15255394 | Human | | name |
| 150508854 | CV1284387 | single nucleotide variant | NM_001379291.1(BRD4):c.2865A>C (p.Pro955=) | not provided [RCV001720495] | benign | 19 | 15243204 | 15243204 | Human | | name |
| 150528273 | CV1301797 | single nucleotide variant | NM_001379291.1(BRD4):c.263A>T (p.Asp88Val) | not provided [RCV001755169] | uncertain significance | 19 | 15272837 | 15272837 | Human | | name |
| 152070867 | CV1638681 | single nucleotide variant | NM_001379291.1(BRD4):c.2913G>A (p.Gln971=) | BRD4-related disorder [RCV003950987]|not provided [RCV002075083] | likely benign | 19 | 15243156 | 15243156 | Human | 1 | name , trait , alternate_id |
| 156319207 | CV1876283 | single nucleotide variant | NM_001379291.1(BRD4):c.1566C>T (p.His522=) | not provided [RCV003062949] | benign | 19 | 15256249 | 15256249 | Human | | name |
| 155984233 | CV1883850 | single nucleotide variant | NM_001379291.1(BRD4):c.2730A>G (p.Gln910=) | not provided [RCV003075810] | likely benign|uncertain significance | 19 | 15243339 | 15243339 | Human | | name |
| 156317779 | CV1903926 | single nucleotide variant | NM_001379291.1(BRD4):c.1593C>G (p.Pro531=) | not provided [RCV003088821] | likely benign | 19 | 15256222 | 15256222 | Human | | name |
| 156015743 | CV1912780 | single nucleotide variant | NM_001379291.1(BRD4):c.2829G>A (p.Pro943=) | not provided [RCV002619134] | likely benign | 19 | 15243240 | 15243240 | Human | | name |
| 156046269 | CV1914836 | single nucleotide variant | NM_001379291.1(BRD4):c.2988C>T (p.Pro996=) | not provided [RCV002620446] | likely benign | 19 | 15243081 | 15243081 | Human | | name |
| 156407285 | CV1918059 | single nucleotide variant | NM_001379291.1(BRD4):c.2397C>G (p.Pro799=) | not provided [RCV002606849] | likely benign | 19 | 15244415 | 15244415 | Human | | name |
| 156449030 | CV1944284 | single nucleotide variant | NM_001379291.1(BRD4):c.2358G>A (p.Pro786=) | not provided [RCV003121140] | benign | 19 | 15244454 | 15244454 | Human | | name |
| 156114267 | CV1998705 | single nucleotide variant | NM_001379291.1(BRD4):c.1053G>A (p.Ser351=) | not provided [RCV002640063] | likely benign | 19 | 15264563 | 15264563 | Human | | name |
| 156058103 | CV2024037 | single nucleotide variant | NM_001379291.1(BRD4):c.2736G>C (p.Leu912=) | not provided [RCV002736739] | likely benign | 19 | 15243333 | 15243333 | Human | | name |
| 156141113 | CV2032940 | single nucleotide variant | NM_001379291.1(BRD4):c.2472C>G (p.Thr824=) | not provided [RCV002740902] | likely benign | 19 | 15244340 | 15244340 | Human | | name |
| 155965558 | CV2034216 | single nucleotide variant | NM_001379291.1(BRD4):c.1374G>A (p.Pro458=) | BRD4-related disorder [RCV003898518]|not provided [RCV002731376] | likely benign | 19 | 15257141 | 15257141 | Human | 1 | name , trait , alternate_id |
| 156114418 | CV2084757 | single nucleotide variant | NM_001379291.1(BRD4):c.1866C>T (p.Ile622=) | not provided [RCV002889318] | likely benign | 19 | 15255478 | 15255478 | Human | | name |
| 156231190 | CV2085282 | single nucleotide variant | NM_001379291.1(BRD4):c.2301T>A (p.Pro767=) | not provided [RCV002876243] | likely benign | 19 | 15244511 | 15244511 | Human | | name |
| 156028638 | CV2088581 | single nucleotide variant | NM_001379291.1(BRD4):c.2724C>T (p.Pro908=) | not provided [RCV002866952] | likely benign | 19 | 15243345 | 15243345 | Human | | name |
| 155960276 | CV2088951 | single nucleotide variant | NM_001379291.1(BRD4):c.2908C>T (p.Leu970=) | not provided [RCV002880983] | likely benign | 19 | 15243161 | 15243161 | Human | | name |
| 156163404 | CV2091530 | single nucleotide variant | NM_001379291.1(BRD4):c.2856C>T (p.Ser952=) | BRD4-related disorder [RCV003961161]|not provided [RCV002891087] | likely benign | 19 | 15243213 | 15243213 | Human | 1 | name , trait , alternate_id |
| 156083393 | CV2094933 | single nucleotide variant | NM_001379291.1(BRD4):c.2328G>A (p.Pro776=) | not provided [RCV002912777] | likely benign | 19 | 15244484 | 15244484 | Human | | name |
| 155932575 | CV2096164 | single nucleotide variant | NM_001379291.1(BRD4):c.2142C>T (p.Ser714=) | not provided [RCV002903912] | benign | 19 | 15254168 | 15254168 | Human | | name |
| 156343034 | CV2099702 | single nucleotide variant | NM_001379291.1(BRD4):c.2841C>T (p.Ser947=) | not provided [RCV002900587] | likely benign | 19 | 15243228 | 15243228 | Human | | name |
| 156008158 | CV2099869 | single nucleotide variant | NM_001379291.1(BRD4):c.1140G>A (p.Val380=) | not provided [RCV002908956] | benign|likely benign | 19 | 15264476 | 15264476 | Human | | name |
| 156092114 | CV2102720 | single nucleotide variant | NM_001379291.1(BRD4):c.1110C>T (p.Ala370=) | not provided [RCV002913077] | benign | 19 | 15264506 | 15264506 | Human | | name |
| 156342096 | CV2103378 | single nucleotide variant | NM_001379291.1(BRD4):c.1071C>T (p.Cys357=) | not provided [RCV002900533] | likely benign | 19 | 15264545 | 15264545 | Human | | name |
| 155939900 | CV2110631 | single nucleotide variant | NM_001379291.1(BRD4):c.2070C>T (p.Ala690=) | not provided [RCV002904397] | likely benign | 19 | 15254240 | 15254240 | Human | | name |
| 156131510 | CV2112887 | single nucleotide variant | NM_001379291.1(BRD4):c.1881C>T (p.Gly627=) | BRD4-related disorder [RCV003926545]|not provided [RCV002914570] | benign|likely benign | 19 | 15255463 | 15255463 | Human | 1 | name , trait , alternate_id |
| 156198417 | CV2113803 | single nucleotide variant | NM_001379291.1(BRD4):c.1719G>A (p.Thr573=) | not provided [RCV002957291] | benign|likely benign | 19 | 15256096 | 15256096 | Human | | name |
| 156020346 | CV2118554 | single nucleotide variant | NM_001379291.1(BRD4):c.2880C>G (p.Pro960=) | not provided [RCV002948742] | likely benign | 19 | 15243189 | 15243189 | Human | | name |
| 156154853 | CV2121838 | single nucleotide variant | NM_001379291.1(BRD4):c.2877G>A (p.Pro959=) | not provided [RCV002929028] | likely benign | 19 | 15243192 | 15243192 | Human | | name |
| 155997563 | CV2122672 | single nucleotide variant | NM_001379291.1(BRD4):c.2397C>T (p.Pro799=) | BRD4-related disorder [RCV003906394]|not provided [RCV002975025] | likely benign | 19 | 15244415 | 15244415 | Human | 1 | name , trait , alternate_id |
| 155949069 | CV2123358 | single nucleotide variant | NM_001379291.1(BRD4):c.2922G>A (p.Pro974=) | BRD4-related disorder [RCV003936465]|not provided [RCV002971755] | benign|likely benign | 19 | 15243147 | 15243147 | Human | 1 | name , trait , alternate_id |
| 156131513 | CV2125163 | single nucleotide variant | NM_001379291.1(BRD4):c.1458C>T (p.Ser486=) | BRD4-related disorder [RCV003906380]|not provided [RCV002953896] | likely benign | 19 | 15257057 | 15257057 | Human | 1 | name , trait , alternate_id |
| 156218829 | CV2128129 | single nucleotide variant | NM_001379291.1(BRD4):c.2430C>A (p.Pro810=) | not provided [RCV002958057] | likely benign | 19 | 15244382 | 15244382 | Human | | name |
| 156121473 | CV2128547 | single nucleotide variant | NM_001379291.1(BRD4):c.1644A>G (p.Lys548=) | BRD4-related disorder [RCV003961275]|not provided [RCV002953514] | likely benign | 19 | 15256171 | 15256171 | Human | 1 | name , trait , alternate_id |
| 156039843 | CV2130409 | single nucleotide variant | NM_001379291.1(BRD4):c.2250G>A (p.Pro750=) | not provided [RCV002949574] | likely benign | 19 | 15244562 | 15244562 | Human | | name |
| 155911133 | CV2141638 | single nucleotide variant | NM_001379291.1(BRD4):c.1170C>T (p.Tyr390=) | not provided [RCV002968059] | benign | 19 | 15264446 | 15264446 | Human | | name |
| 155994838 | CV2171505 | single nucleotide variant | NM_001379291.1(BRD4):c.2766C>T (p.Pro922=) | not provided [RCV003034497] | likely benign | 19 | 15243303 | 15243303 | Human | | name |
| 156379809 | CV2178963 | single nucleotide variant | NM_001379291.1(BRD4):c.2040A>G (p.Lys680=) | not provided [RCV003050400] | likely benign | 19 | 15255304 | 15255304 | Human | | name |
| 329352220 | CV2476740 | single nucleotide variant | NM_001379291.1(BRD4):c.2277G>C (p.Pro759=) | not provided [RCV003222972] | likely benign | 19 | 15244535 | 15244535 | Human | | name |
| 401878120 | CV2786885 | single nucleotide variant | NM_001379291.1(BRD4):c.109C>T (p.Pro37Ser) | Inborn genetic diseases [RCV003383989] | uncertain significance | 19 | 15272991 | 15272991 | Human | 1 | name |
| 401907017 | CV2811717 | single nucleotide variant | NM_001379291.1(BRD4):c.2946C>T (p.Pro982=) | not provided [RCV003421881] | likely benign | 19 | 15243123 | 15243123 | Human | | name |
| 401928552 | CV2811718 | single nucleotide variant | NM_001379291.1(BRD4):c.2445C>T (p.Ser815=) | not provided [RCV003406876] | likely benign | 19 | 15244367 | 15244367 | Human | | name |
| 401928554 | CV2811719 | single nucleotide variant | NM_001379291.1(BRD4):c.2337G>C (p.Pro779=) | not provided [RCV003406877] | likely benign | 19 | 15244475 | 15244475 | Human | | name |
| 401907019 | CV2811720 | single nucleotide variant | NM_001379291.1(BRD4):c.2328G>C (p.Pro776=) | not provided [RCV003421882] | likely benign | 19 | 15244484 | 15244484 | Human | | name |
| 401907020 | CV2811721 | single nucleotide variant | NM_001379291.1(BRD4):c.2307T>C (p.Pro769=) | not provided [RCV003421883] | likely benign | 19 | 15244505 | 15244505 | Human | | name |
| 401928556 | CV2811722 | single nucleotide variant | NM_001379291.1(BRD4):c.2280T>C (p.Pro760=) | not provided [RCV003406878] | likely benign | 19 | 15244532 | 15244532 | Human | | name |
| 401944304 | CV2840268 | single nucleotide variant | NM_001379291.1(BRD4):c.2295A>C (p.Pro765=) | not provided [RCV003457018] | likely benign | 19 | 15244517 | 15244517 | Human | | name |
| 405203475 | CV2858328 | single nucleotide variant | NM_001379291.1(BRD4):c.1482G>A (p.Ser494=) | not provided [RCV003551645] | likely benign | 19 | 15257033 | 15257033 | Human | | name |
| 405203522 | CV2858357 | single nucleotide variant | NM_001379291.1(BRD4):c.2805G>A (p.Leu935=) | not provided [RCV003551651] | likely benign | 19 | 15243264 | 15243264 | Human | | name |
| 405045240 | CV2859897 | single nucleotide variant | NM_001379291.1(BRD4):c.118G>T (p.Ala40Ser) | not provided [RCV003579403] | uncertain significance | 19 | 15272982 | 15272982 | Human | | name |
| 405067044 | CV2875484 | single nucleotide variant | NM_001379291.1(BRD4):c.1560C>T (p.Ala520=) | not provided [RCV003548301] | likely benign | 19 | 15256255 | 15256255 | Human | | name |
| 402491083 | CV2877627 | single nucleotide variant | NM_001379291.1(BRD4):c.2310G>T (p.Pro770=) | not provided [RCV003544949] | likely benign | 19 | 15244502 | 15244502 | Human | | name |
| 405152861 | CV2888561 | single nucleotide variant | NM_001379291.1(BRD4):c.2937A>G (p.Pro979=) | not provided [RCV003561773] | benign | 19 | 15243132 | 15243132 | Human | | name |
| 405238347 | CV2891376 | single nucleotide variant | NM_001379291.1(BRD4):c.2562C>T (p.His854=) | not provided [RCV003556847] | likely benign | 19 | 15244250 | 15244250 | Human | | name |
| 405149272 | CV2891956 | single nucleotide variant | NM_001379291.1(BRD4):c.1953G>A (p.Glu651=) | not provided [RCV003561608] | likely benign | 19 | 15255391 | 15255391 | Human | | name |
| 405207973 | CV2909120 | single nucleotide variant | NM_001379291.1(BRD4):c.1005G>T (p.Val335=) | not provided [RCV003566728] | likely benign | 19 | 15264611 | 15264611 | Human | | name |
| 402476234 | CV2916852 | single nucleotide variant | NM_001379291.1(BRD4):c.2121T>C (p.Ser707=) | not provided [RCV003571425] | likely benign | 19 | 15254189 | 15254189 | Human | | name |
| 402517185 | CV2936482 | single nucleotide variant | NM_001379291.1(BRD4):c.2482C>T (p.Leu828=) | not provided [RCV003663040] | likely benign | 19 | 15244330 | 15244330 | Human | | name |
| 405091044 | CV2937411 | single nucleotide variant | NM_001379291.1(BRD4):c.203G>C (p.Arg68Thr) | not provided [RCV003665285] | uncertain significance | 19 | 15272897 | 15272897 | Human | | name |
| 402509341 | CV2938523 | single nucleotide variant | NM_001379291.1(BRD4):c.2382G>A (p.Lys794=) | not provided [RCV003662412] | likely benign | 19 | 15244430 | 15244430 | Human | | name |
| 405075634 | CV2940625 | single nucleotide variant | NM_001379291.1(BRD4):c.2277G>A (p.Pro759=) | not provided [RCV003659603] | likely benign | 19 | 15244535 | 15244535 | Human | | name |
| 402514886 | CV2942999 | single nucleotide variant | NM_001379291.1(BRD4):c.1086G>A (p.Lys362=) | not provided [RCV003662762] | likely benign | 19 | 15264530 | 15264530 | Human | | name |
| 402492276 | CV2945822 | single nucleotide variant | NM_001379291.1(BRD4):c.1428C>A (p.Pro476=) | not provided [RCV003660664] | likely benign | 19 | 15257087 | 15257087 | Human | | name |
| 405100663 | CV2948131 | single nucleotide variant | NM_001379291.1(BRD4):c.2259G>A (p.Val753=) | not provided [RCV003666112] | likely benign | 19 | 15244553 | 15244553 | Human | | name |
| 402490634 | CV2949022 | single nucleotide variant | NM_001379291.1(BRD4):c.118G>A (p.Ala40Thr) | not provided [RCV003660511] | uncertain significance | 19 | 15272982 | 15272982 | Human | | name |
| 405143046 | CV2958897 | single nucleotide variant | NM_001379291.1(BRD4):c.2253T>G (p.Ala751=) | not provided [RCV003673405] | likely benign | 19 | 15244559 | 15244559 | Human | | name |
| 405227084 | CV2963457 | single nucleotide variant | NM_001379291.1(BRD4):c.1233G>A (p.Glu411=) | not provided [RCV003681608] | likely benign | 19 | 15263528 | 15263528 | Human | | name |
| 405191017 | CV2964820 | single nucleotide variant | NM_001379291.1(BRD4):c.1185G>A (p.Lys395=) | not provided [RCV003677199] | likely benign | 19 | 15264431 | 15264431 | Human | | name |
| 405222147 | CV2966355 | single nucleotide variant | NM_001379291.1(BRD4):c.1524C>G (p.Ala508=) | not provided [RCV003680833] | likely benign | 19 | 15256991 | 15256991 | Human | | name |
| 405246745 | CV2966437 | single nucleotide variant | NM_001379291.1(BRD4):c.2418C>G (p.Pro806=) | not provided [RCV003685499] | likely benign | 19 | 15244394 | 15244394 | Human | | name |
| 405242309 | CV2967243 | single nucleotide variant | NM_001379291.1(BRD4):c.1206A>G (p.Thr402=) | not provided [RCV003684320] | likely benign | 19 | 15264410 | 15264410 | Human | | name |
| 405248545 | CV2984846 | single nucleotide variant | NM_001379291.1(BRD4):c.1827T>G (p.Pro609=) | not provided [RCV003721081] | likely benign | 19 | 15255517 | 15255517 | Human | | name |
| 402520836 | CV3000393 | single nucleotide variant | NM_001379291.1(BRD4):c.1161A>G (p.Leu387=) | not provided [RCV003716417] | likely benign | 19 | 15264455 | 15264455 | Human | | name |
| 405063882 | CV3020698 | single nucleotide variant | NM_001379291.1(BRD4):c.2844G>A (p.Val948=) | not provided [RCV003697887] | likely benign | 19 | 15243225 | 15243225 | Human | | name |
| 405144121 | CV3027269 | single nucleotide variant | NM_001379291.1(BRD4):c.2925A>G (p.Pro975=) | not provided [RCV003702771] | likely benign | 19 | 15243144 | 15243144 | Human | | name |
| 405144587 | CV3027346 | single nucleotide variant | NM_001379291.1(BRD4):c.1074C>T (p.Ser358=) | not provided [RCV003702808] | likely benign | 19 | 15264542 | 15264542 | Human | | name |
| 405086397 | CV3028311 | single nucleotide variant | NM_001379291.1(BRD4):c.1278C>T (p.Phe426=) | not provided [RCV003699338] | likely benign | 19 | 15263483 | 15263483 | Human | | name |
| 405153190 | CV3031582 | single nucleotide variant | NM_001379291.1(BRD4):c.119C>T (p.Ala40Val) | not provided [RCV003703433] | uncertain significance | 19 | 15272981 | 15272981 | Human | | name |
| 405203771 | CV3033366 | single nucleotide variant | NM_001379291.1(BRD4):c.2631C>T (p.Ala877=) | not provided [RCV003707737] | likely benign | 19 | 15243438 | 15243438 | Human | | name |
| 405223111 | CV3035677 | single nucleotide variant | NM_001379291.1(BRD4):c.1650G>A (p.Lys550=) | not provided [RCV003710263] | likely benign | 19 | 15256165 | 15256165 | Human | | name |
| 405156190 | CV3037376 | single nucleotide variant | NM_001379291.1(BRD4):c.2310G>A (p.Pro770=) | not provided [RCV003703635] | benign | 19 | 15244502 | 15244502 | Human | | name |
| 405195302 | CV3037547 | single nucleotide variant | NM_001379291.1(BRD4):c.127A>G (p.Thr43Ala) | not provided [RCV003706849] | uncertain significance | 19 | 15272973 | 15272973 | Human | | name |
| 405195666 | CV3037597 | single nucleotide variant | NM_001379291.1(BRD4):c.2400C>T (p.Phe800=) | not provided [RCV003706886] | likely benign|uncertain significance | 19 | 15244412 | 15244412 | Human | | name |
| 402505101 | CV3038942 | single nucleotide variant | NM_001379291.1(BRD4):c.1044C>T (p.Ser348=) | not provided [RCV003715120] | likely benign | 19 | 15264572 | 15264572 | Human | | name |
| 405083036 | CV3046791 | single nucleotide variant | NM_001379291.1(BRD4):c.1116C>T (p.Tyr372=) | not provided [RCV003717203] | likely benign | 19 | 15264500 | 15264500 | Human | | name |
| 405222286 | CV3056807 | single nucleotide variant | NM_001379291.1(BRD4):c.2193C>T (p.Pro731=) | not provided [RCV003733413] | likely benign | 19 | 15244728 | 15244728 | Human | | name |
| 405158196 | CV3061533 | single nucleotide variant | NM_001379291.1(BRD4):c.2526G>A (p.Pro842=) | not provided [RCV003726909] | benign | 19 | 15244286 | 15244286 | Human | | name |
| 405213167 | CV3063223 | single nucleotide variant | NM_001379291.1(BRD4):c.1528C>A (p.Arg510=) | not provided [RCV003732199] | likely benign | 19 | 15256987 | 15256987 | Human | | name |
| 405029208 | CV3073619 | single nucleotide variant | NM_001379291.1(BRD4):c.1791C>G (p.Pro597=) | not provided [RCV003739014] | likely benign | 19 | 15255553 | 15255553 | Human | | name |
| 405175682 | CV3119239 | single nucleotide variant | NM_001379291.1(BRD4):c.2673A>G (p.Ser891=) | not provided [RCV003819524] | likely benign | 19 | 15243396 | 15243396 | Human | | name |
| 402522191 | CV3126982 | single nucleotide variant | NM_001379291.1(BRD4):c.2493G>A (p.Pro831=) | not provided [RCV003824900] | likely benign | 19 | 15244319 | 15244319 | Human | | name |
| 405226909 | CV3169502 | single nucleotide variant | NM_001379291.1(BRD4):c.2874G>A (p.Leu958=) | not provided [RCV003864526] | likely benign | 19 | 15243195 | 15243195 | Human | | name |
| 402506809 | CV3181700 | single nucleotide variant | NM_001379291.1(BRD4):c.1629G>A (p.Lys543=) | not provided [RCV003878534] | likely benign | 19 | 15256186 | 15256186 | Human | | name |
| 405259887 | CV3186463 | single nucleotide variant | NM_001379291.1(BRD4):c.2337G>A (p.Pro779=) | not provided [RCV003884222] | likely benign | 19 | 15244475 | 15244475 | Human | | name |
| 405267648 | CV3186880 | single nucleotide variant | NM_001379291.1(BRD4):c.2763A>C (p.Pro921=) | not provided [RCV003886963] | likely benign | 19 | 15243306 | 15243306 | Human | | name |
| 405277787 | CV3196108 | single nucleotide variant | NM_001379291.1(BRD4):c.2367A>T (p.Ala789=) | BRD4-related disorder [RCV003904625] | likely benign | 19 | 15244445 | 15244445 | Human | | name , trait , alternate_id |
| 405286692 | CV3205369 | single nucleotide variant | NM_001379291.1(BRD4):c.2385C>A (p.Ser795=) | BRD4-related disorder [RCV003959555] | likely benign | 19 | 15244427 | 15244427 | Human | | name , trait , alternate_id |
| 405284039 | CV3213547 | single nucleotide variant | NM_001379291.1(BRD4):c.1219C>T (p.Leu407=) | BRD4-related disorder [RCV003922122] | likely benign | 19 | 15263542 | 15263542 | Human | | name , trait , alternate_id |
| 405290148 | CV3214108 | single nucleotide variant | NM_001379291.1(BRD4):c.2271G>A (p.Pro757=) | BRD4-related disorder [RCV003926945]|not provided [RCV005101762] | likely benign | 19 | 15244541 | 15244541 | Human | 1 | name , trait , alternate_id |
| 596923078 | CV3530246 | single nucleotide variant | NM_001379291.1(BRD4):c.220C>G (p.Leu74Val) | not provided [RCV004776845] | uncertain significance | 19 | 15272880 | 15272880 | Human | | name |
| 596923112 | CV3537561 | single nucleotide variant | NM_001379291.1(BRD4):c.251A>G (p.Gln84Arg) | not provided [RCV004787531] | uncertain significance | 19 | 15272849 | 15272849 | Human | | name |
| 596948106 | CV3547701 | single nucleotide variant | NM_001379291.1(BRD4):c.2664A>C (p.Pro888=) | not provided [RCV004812006] | likely benign | 19 | 15243405 | 15243405 | Human | | name |
| 597961593 | CV3753281 | single nucleotide variant | NM_001379291.1(BRD4):c.2685C>G (p.Thr895=) | not provided [RCV005081781] | likely benign | 19 | 15243384 | 15243384 | Human | | name |
| 597944303 | CV3754986 | single nucleotide variant | NM_001379291.1(BRD4):c.1197C>T (p.Asp399=) | not provided [RCV005078175] | likely benign | 19 | 15264419 | 15264419 | Human | | name |
| 597838903 | CV3758160 | single nucleotide variant | NM_001379291.1(BRD4):c.1962C>T (p.Ile654=) | not provided [RCV005085994] | likely benign | 19 | 15255382 | 15255382 | Human | | name |
| 597877013 | CV3766725 | single nucleotide variant | NM_001379291.1(BRD4):c.1800G>A (p.Glu600=) | not provided [RCV005108665] | likely benign | 19 | 15255544 | 15255544 | Human | | name |
| 597975864 | CV3795972 | single nucleotide variant | NM_001379291.1(BRD4):c.293A>G (p.Tyr98Cys) | not provided [RCV005144803] | uncertain significance | 19 | 15269035 | 15269035 | Human | | name |
| 597971316 | CV3802522 | single nucleotide variant | NM_001379291.1(BRD4):c.2596C>T (p.Leu866=) | not provided [RCV005142120] | likely benign | 19 | 15243473 | 15243473 | Human | | name |
| 597869417 | CV3803481 | single nucleotide variant | NM_001379291.1(BRD4):c.1878C>T (p.Pro626=) | not provided [RCV005148078] | likely benign | 19 | 15255466 | 15255466 | Human | | name |
| 597908973 | CV3806413 | single nucleotide variant | NM_001379291.1(BRD4):c.136C>T (p.Pro46Ser) | not provided [RCV005153980] | uncertain significance | 19 | 15272964 | 15272964 | Human | | name |
| 597921295 | CV3808028 | single nucleotide variant | NM_001379291.1(BRD4):c.2169G>A (p.Pro723=) | not provided [RCV005155736] | likely benign | 19 | 15244752 | 15244752 | Human | | name |
| 597924588 | CV3808663 | single nucleotide variant | NM_001379291.1(BRD4):c.1338C>G (p.Leu446=) | not provided [RCV005156177] | likely benign | 19 | 15263423 | 15263423 | Human | | name |
| 597877526 | CV3813327 | single nucleotide variant | NM_001379291.1(BRD4):c.2727C>A (p.Pro909=) | not provided [RCV005149263] | likely benign | 19 | 15243342 | 15243342 | Human | | name |
| 597959114 | CV3815035 | single nucleotide variant | NM_001379291.1(BRD4):c.2508C>G (p.Pro836=) | not provided [RCV005163161] | likely benign | 19 | 15244304 | 15244304 | Human | | name |
| 597859770 | CV3817191 | single nucleotide variant | NM_001379291.1(BRD4):c.2205G>A (p.Gln735=) | not provided [RCV005146572] | likely benign | 19 | 15244716 | 15244716 | Human | | name |
| 597956956 | CV3818103 | single nucleotide variant | NM_001379291.1(BRD4):c.2595A>G (p.Ala865=) | not provided [RCV005162554] | likely benign | 19 | 15243474 | 15243474 | Human | | name |
| 597948919 | CV3818438 | single nucleotide variant | NM_001379291.1(BRD4):c.2940C>G (p.Pro980=) | not provided [RCV005160699] | likely benign | 19 | 15243129 | 15243129 | Human | | name |
| 597966875 | CV3823907 | single nucleotide variant | NM_001379291.1(BRD4):c.1137T>A (p.Pro379=) | not provided [RCV005165327] | likely benign | 19 | 15264479 | 15264479 | Human | | name |
| 597880220 | CV3826359 | single nucleotide variant | NM_001379291.1(BRD4):c.2808G>A (p.Gln936=) | not provided [RCV005178056] | uncertain significance | 19 | 15243261 | 15243261 | Human | | name |
| 597875410 | CV3829686 | single nucleotide variant | NM_001379291.1(BRD4):c.1533G>T (p.Leu511=) | not provided [RCV005177394] | likely benign | 19 | 15256982 | 15256982 | Human | | name |
| 597875517 | CV3829700 | single nucleotide variant | NM_001379291.1(BRD4):c.1485C>T (p.Asp495=) | not provided [RCV005177408] | likely benign | 19 | 15257030 | 15257030 | Human | | name |
| 597892764 | CV3833333 | single nucleotide variant | NM_001379291.1(BRD4):c.2592C>T (p.Asn864=) | not provided [RCV005180025] | likely benign | 19 | 15243477 | 15243477 | Human | | name |
| 597894952 | CV3833613 | single nucleotide variant | NM_001379291.1(BRD4):c.1377C>T (p.Asp459=) | not provided [RCV005180305] | likely benign | 19 | 15257138 | 15257138 | Human | | name |
| 597884476 | CV3834950 | single nucleotide variant | NM_001379291.1(BRD4):c.2872C>T (p.Leu958=) | not provided [RCV005178674] | likely benign | 19 | 15243197 | 15243197 | Human | | name |
| 597941334 | CV3837060 | single nucleotide variant | NM_001379291.1(BRD4):c.2727C>G (p.Pro909=) | not provided [RCV005187891] | likely benign | 19 | 15243342 | 15243342 | Human | | name |
| 597925046 | CV3840496 | single nucleotide variant | NM_001379291.1(BRD4):c.1671G>A (p.Val557=) | not provided [RCV005184967] | likely benign | 19 | 15256144 | 15256144 | Human | | name |
| 597935747 | CV3845293 | single nucleotide variant | NM_001379291.1(BRD4):c.2097G>A (p.Ser699=) | not provided [RCV005186606] | likely benign | 19 | 15254213 | 15254213 | Human | | name |
| 597965745 | CV3848420 | single nucleotide variant | NM_001379291.1(BRD4):c.1002C>T (p.Asp334=) | not provided [RCV005194300] | benign | 19 | 15264614 | 15264614 | Human | | name |
| 597938422 | CV3852803 | single nucleotide variant | NM_001379291.1(BRD4):c.2373G>A (p.Pro791=) | not provided [RCV005187203] | likely benign | 19 | 15244439 | 15244439 | Human | | name |
| 597889908 | CV3856153 | single nucleotide variant | NM_001379291.1(BRD4):c.2427G>A (p.Glu809=) | not provided [RCV005200398] | likely benign | 19 | 15244385 | 15244385 | Human | | name |
| 597891097 | CV3856525 | single nucleotide variant | NM_001379291.1(BRD4):c.1008C>T (p.Pro336=) | not provided [RCV005200590] | benign | 19 | 15264608 | 15264608 | Human | | name |
| 597888089 | CV3859442 | single nucleotide variant | NM_001379291.1(BRD4):c.2481C>T (p.Ile827=) | not provided [RCV005200098] | likely benign | 19 | 15244331 | 15244331 | Human | | name |
| 597877920 | CV3860330 | single nucleotide variant | NM_001379291.1(BRD4):c.2655C>G (p.Ala885=) | not provided [RCV005198539] | likely benign | 19 | 15243414 | 15243414 | Human | | name |
| 598128648 | CV3887853 | single nucleotide variant | NM_001379291.1(BRD4):c.2319A>G (p.Gln773=) | not provided [RCV005244027] | likely benign | 19 | 15244493 | 15244493 | Human | | name |
| 616938995 | CV4015323 | single nucleotide variant | NM_001379291.1(BRD4):c.182A>G (p.Asn61Ser) | not provided [RCV005412833] | uncertain significance | 19 | 15272918 | 15272918 | Human | | name |
| 13520399 | CV495861 | duplication | NM_001379291.1(BRD4):c.766dup (p.Gln256fs) | not provided [RCV000598606] | pathogenic|uncertain significance | 19 | 15265436 | 15265437 | Human | | name |
| 15165398 | CV727974 | single nucleotide variant | NM_001379291.1(BRD4):c.2241G>A (p.Gln747=) | BRD4-related disorder [RCV003910406]|not provided [RCV000882402] | benign | 19 | 15244571 | 15244571 | Human | 1 | name , trait , alternate_id |
| 15114129 | CV756790 | single nucleotide variant | NM_001379291.1(BRD4):c.1983G>A (p.Pro661=) | not provided [RCV000917219] | likely benign | 19 | 15255361 | 15255361 | Human | | name |
| 15194760 | CV756791 | single nucleotide variant | NM_001379291.1(BRD4):c.1590G>A (p.Gln530=) | BRD4-related disorder [RCV003923157]|not provided [RCV000911215] | benign|likely benign | 19 | 15256225 | 15256225 | Human | 1 | name , trait , alternate_id |
| 15104179 | CV786099 | single nucleotide variant | NM_001379291.1(BRD4):c.2811G>A (p.Lys937=) | BRD4-related disorder [RCV003943255]|not provided [RCV000976168] | likely benign | 19 | 15243258 | 15243258 | Human | 1 | name , trait , alternate_id |
| 150536090 | CV1312268 | single nucleotide variant | NM_001379291.1(BRD4):c.434A>G (p.Asp145Gly) | Neurodevelopmental disorder [RCV001780030] | uncertain significance | 19 | 15267541 | 15267541 | Human | 1 | name |
| 151662547 | CV1333188 | single nucleotide variant | NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser) | Cornelia de Lange-like syndrome [RCV001837421] | uncertain significance | 19 | 15265574 | 15265574 | Human | | name |
| 152121949 | CV1570341 | single nucleotide variant | NM_001379291.1(BRD4):c.755C>G (p.Pro252Arg) | not provided [RCV002216900] | benign|likely benign | 19 | 15265448 | 15265448 | Human | | name |
| 152122632 | CV1632009 | single nucleotide variant | NM_001379291.1(BRD4):c.3321C>T (p.Leu1107=) | not provided [RCV002118041] | benign | 19 | 15239783 | 15239783 | Human | | name |
| 155641655 | CV1709889 | microsatellite | NM_001379291.1(BRD4):c.2158+825_2158+827del | not provided [RCV002292989] | benign|likely benign | 19 | 15253325 | 15253327 | Human | | name |
| 155734881 | CV1774429 | single nucleotide variant | NM_001379291.1(BRD4):c.544G>T (p.Gly182Trp) | not provided [RCV002301885] | uncertain significance | 19 | 15267431 | 15267431 | Human | | name |
| 155697207 | CV1777233 | single nucleotide variant | NM_001379291.1(BRD4):c.835C>T (p.Pro279Ser) | not provided [RCV002295384] | uncertain significance | 19 | 15265368 | 15265368 | Human | | name |
| 155795573 | CV1861381 | single nucleotide variant | NM_001379291.1(BRD4):c.706A>G (p.Thr236Ala) | not provided [RCV002469663] | uncertain significance | 19 | 15265497 | 15265497 | Human | | name |
| 155795619 | CV1861407 | single nucleotide variant | NM_001379291.1(BRD4):c.800C>G (p.Pro267Arg) | not provided [RCV002469689] | uncertain significance | 19 | 15265403 | 15265403 | Human | | name |
| 156408536 | CV1870124 | single nucleotide variant | NM_001379291.1(BRD4):c.3168C>T (p.Thr1056=) | not provided [RCV003071308] | uncertain significance | 19 | 15242901 | 15242901 | Human | | name |
| 156359685 | CV1874036 | single nucleotide variant | NM_001379291.1(BRD4):c.3741C>T (p.His1247=) | not provided [RCV003065522] | likely benign | 19 | 15239100 | 15239100 | Human | | name |
| 156027303 | CV1893312 | single nucleotide variant | NM_001379291.1(BRD4):c.3222A>C (p.Ser1074=) | not provided [RCV003077932] | likely benign | 19 | 15239970 | 15239970 | Human | | name |
| 155960453 | CV1900372 | single nucleotide variant | NM_001379291.1(BRD4):c.3162C>T (p.Tyr1054=) | not provided [RCV003095817] | likely benign | 19 | 15242907 | 15242907 | Human | | name |
| 156103359 | CV1907268 | single nucleotide variant | NM_001379291.1(BRD4):c.3426C>T (p.Ala1142=) | not provided [RCV003080689] | benign | 19 | 15239678 | 15239678 | Human | | name |
| 156163674 | CV1907599 | single nucleotide variant | NM_001379291.1(BRD4):c.308C>T (p.Thr103Met) | not provided [RCV003082996] | uncertain significance | 19 | 15269020 | 15269020 | Human | | name |
| 156210164 | CV1909698 | single nucleotide variant | NM_001379291.1(BRD4):c.3180C>G (p.Arg1060=) | not provided [RCV002596032] | likely benign | 19 | 15240012 | 15240012 | Human | | name |
| 156016860 | CV1912887 | single nucleotide variant | NM_001379291.1(BRD4):c.3066G>A (p.Pro1022=) | not provided [RCV002619189] | likely benign | 19 | 15243003 | 15243003 | Human | | name |
| 156407282 | CV1918058 | single nucleotide variant | NM_001379291.1(BRD4):c.3588C>A (p.Ile1196=) | not provided [RCV002606848] | likely benign | 19 | 15239253 | 15239253 | Human | | name |
| 156395248 | CV1927848 | single nucleotide variant | NM_001379291.1(BRD4):c.932C>T (p.Pro311Leu) | Inborn genetic diseases [RCV004072063]|not provided [RCV002654847] | likely benign|uncertain significance | 19 | 15264684 | 15264684 | Human | 1 | name |
| 156435766 | CV1937127 | single nucleotide variant | NM_001379291.1(BRD4):c.3687C>T (p.Arg1229=) | not provided [RCV003104997] | likely benign | 19 | 15239154 | 15239154 | Human | | name |
| 156435555 | CV1940809 | single nucleotide variant | NM_001379291.1(BRD4):c.3450G>A (p.Pro1150=) | not provided [RCV003104913] | likely benign | 19 | 15239518 | 15239518 | Human | | name |
| 156242724 | CV1981519 | single nucleotide variant | NM_001379291.1(BRD4):c.3189C>T (p.Pro1063=) | not provided [RCV002645630] | likely benign | 19 | 15240003 | 15240003 | Human | | name |
| 156266200 | CV2011170 | single nucleotide variant | NM_001379291.1(BRD4):c.3630G>A (p.Pro1210=) | not provided [RCV002714824] | likely benign | 19 | 15239211 | 15239211 | Human | | name |
| 155918933 | CV2027235 | single nucleotide variant | NM_001379291.1(BRD4):c.3024C>T (p.Ile1008=) | not provided [RCV002750612] | likely benign | 19 | 15243045 | 15243045 | Human | | name |
| 155911685 | CV2029386 | single nucleotide variant | NM_001379291.1(BRD4):c.3393G>A (p.Pro1131=) | not provided [RCV002750190] | likely benign | 19 | 15239711 | 15239711 | Human | | name |
| 156015625 | CV2035057 | single nucleotide variant | NM_001379291.1(BRD4):c.3921C>T (p.Ala1307=) | not provided [RCV002780387] | likely benign | 19 | 15238842 | 15238842 | Human | | name |
| 155935201 | CV2035373 | single nucleotide variant | NM_001379291.1(BRD4):c.799C>A (p.Pro267Thr) | not provided [RCV002751403] | uncertain significance | 19 | 15265404 | 15265404 | Human | | name |
| 156271718 | CV2035837 | single nucleotide variant | NM_001379291.1(BRD4):c.3966C>T (p.Asp1322=) | not provided [RCV002770067] | likely benign | 19 | 15238797 | 15238797 | Human | | name |
| 156172230 | CV2041704 | single nucleotide variant | NM_001379291.1(BRD4):c.827C>T (p.Ala276Val) | not provided [RCV002741894] | uncertain significance | 19 | 15265376 | 15265376 | Human | | name |
| 156127561 | CV2104245 | single nucleotide variant | NM_001379291.1(BRD4):c.3477G>A (p.Arg1159=) | not provided [RCV002914420] | likely benign | 19 | 15239491 | 15239491 | Human | | name |
| 156340382 | CV2106970 | single nucleotide variant | NM_001379291.1(BRD4):c.3105G>A (p.Lys1035=) | not provided [RCV002938865] | benign | 19 | 15242964 | 15242964 | Human | | name |
| 156024783 | CV2112332 | single nucleotide variant | NM_001379291.1(BRD4):c.925C>A (p.Leu309Met) | not provided [RCV002909784] | uncertain significance | 19 | 15264691 | 15264691 | Human | | name |
| 156330885 | CV2112642 | single nucleotide variant | NM_001379291.1(BRD4):c.3567G>A (p.Ala1189=) | BRD4-related disorder [RCV003943593]|not provided [RCV002938360] | benign|likely benign | 19 | 15239401 | 15239401 | Human | 1 | name , trait , alternate_id |
| 156032047 | CV2116148 | single nucleotide variant | NM_001379291.1(BRD4):c.3603C>T (p.Ser1201=) | not provided [RCV002910109] | likely benign | 19 | 15239238 | 15239238 | Human | | name |
| 156352832 | CV2118780 | single nucleotide variant | NM_001379291.1(BRD4):c.3795C>T (p.Asp1265=) | not provided [RCV002966426] | likely benign | 19 | 15238968 | 15238968 | Human | | name |
| 156001362 | CV2122888 | single nucleotide variant | NM_001379291.1(BRD4):c.3735C>T (p.Ala1245=) | not provided [RCV002975195] | likely benign | 19 | 15239106 | 15239106 | Human | | name |
| 156007397 | CV2126654 | single nucleotide variant | NM_001379291.1(BRD4):c.3057C>G (p.Pro1019=) | not provided [RCV002975466] | likely benign | 19 | 15243012 | 15243012 | Human | | name |
| 156025863 | CV2128946 | single nucleotide variant | NM_001379291.1(BRD4):c.3336G>A (p.Glu1112=) | BRD4-related disorder [RCV003963486]|not provided [RCV002949000] | benign|likely benign | 19 | 15239768 | 15239768 | Human | 1 | name , trait , alternate_id |
| 155934404 | CV2129403 | single nucleotide variant | NM_001379291.1(BRD4):c.3153G>A (p.Ser1051=) | not provided [RCV002970830] | likely benign | 19 | 15242916 | 15242916 | Human | | name |
| 156252517 | CV2130295 | single nucleotide variant | NM_001379291.1(BRD4):c.662C>T (p.Thr221Met) | not provided [RCV002959260] | uncertain significance | 19 | 15265541 | 15265541 | Human | | name |
| 156148743 | CV2131101 | single nucleotide variant | NM_001379291.1(BRD4):c.3822G>A (p.Arg1274=) | BRD4-related disorder [RCV003963526]|not provided [RCV002982575] | likely benign | 19 | 15238941 | 15238941 | Human | 1 | name , trait , alternate_id |
| 156264200 | CV2143614 | single nucleotide variant | NM_001379291.1(BRD4):c.791C>T (p.Ala264Val) | not provided [RCV003009033] | likely benign | 19 | 15265412 | 15265412 | Human | | name |
| 155931965 | CV2156746 | single nucleotide variant | NM_001379291.1(BRD4):c.899T>C (p.Ile300Thr) | not provided [RCV003013683] | uncertain significance | 19 | 15264717 | 15264717 | Human | | name |
| 156397372 | CV2178408 | single nucleotide variant | NM_001379291.1(BRD4):c.689C>G (p.Pro230Arg) | not provided [RCV003051990] | uncertain significance | 19 | 15265514 | 15265514 | Human | | name |
| 156078832 | CV2248397 | single nucleotide variant | NM_001379291.1(BRD4):c.784G>A (p.Ala262Thr) | Inborn genetic diseases [RCV002797832] | uncertain significance | 19 | 15265419 | 15265419 | Human | 1 | name |
| 155942779 | CV2298306 | single nucleotide variant | NM_001379291.1(BRD4):c.721G>A (p.Val241Met) | Inborn genetic diseases [RCV002879861] | uncertain significance | 19 | 15265482 | 15265482 | Human | 1 | name |
| 156195138 | CV2347434 | single nucleotide variant | NM_001379291.1(BRD4):c.598A>T (p.Thr200Ser) | Inborn genetic diseases [RCV002984854]|not provided [RCV003669350] | uncertain significance | 19 | 15265605 | 15265605 | Human | 1 | name |
| 155931737 | CV2370999 | single nucleotide variant | NM_001379291.1(BRD4):c.350A>G (p.Asn117Ser) | Inborn genetic diseases [RCV002684272] | uncertain significance | 19 | 15268978 | 15268978 | Human | 1 | name |
| 156062022 | CV2380312 | single nucleotide variant | NM_001379291.1(BRD4):c.692A>C (p.Asp231Ala) | Inborn genetic diseases [RCV002693480] | uncertain significance | 19 | 15265511 | 15265511 | Human | 1 | name |
| 329380023 | CV2444153 | single nucleotide variant | NM_001379291.1(BRD4):c.746C>T (p.Thr249Met) | Inborn genetic diseases [RCV003175301]|not provided [RCV005101258] | uncertain significance | 19 | 15265457 | 15265457 | Human | 1 | name |
| 401745171 | CV2698482 | single nucleotide variant | NM_001379291.1(BRD4):c.683T>G (p.Val228Gly) | Inborn genetic diseases [RCV003275447] | uncertain significance | 19 | 15265520 | 15265520 | Human | 1 | name |
| 401795861 | CV2742826 | deletion | NM_001379291.1(BRD4):c.1960del (p.Ile654fs) | not provided [RCV003325342] | likely pathogenic | 19 | 15255384 | 15255384 | Human | | name |
| 401875286 | CV2765979 | single nucleotide variant | NM_001379291.1(BRD4):c.658G>A (p.Ala220Thr) | Inborn genetic diseases [RCV003347657]|not provided [RCV003549070] | uncertain significance | 19 | 15265545 | 15265545 | Human | 1 | name |
| 401881900 | CV2774651 | single nucleotide variant | NM_001379291.1(BRD4):c.380A>C (p.Gln127Pro) | Inborn genetic diseases [RCV003350227] | uncertain significance | 19 | 15268948 | 15268948 | Human | 1 | name |
| 401908961 | CV2803758 | single nucleotide variant | NM_001379291.1(BRD4):c.577G>C (p.Val193Leu) | BRD4-related disorder [RCV003397734] | uncertain significance | 19 | 15265626 | 15265626 | Human | | name , trait , alternate_id |
| 401908565 | CV2811713 | single nucleotide variant | NM_001379291.1(BRD4):c.3636C>T (p.Thr1212=) | not provided [RCV003423396] | likely benign | 19 | 15239205 | 15239205 | Human | | name |
| 401907015 | CV2811714 | single nucleotide variant | NM_001379291.1(BRD4):c.3384G>A (p.Ser1128=) | not provided [RCV003421879] | likely benign | 19 | 15239720 | 15239720 | Human | | name |
| 401907016 | CV2811716 | single nucleotide variant | NM_001379291.1(BRD4):c.3063T>C (p.His1021=) | not provided [RCV003421880] | likely benign | 19 | 15243006 | 15243006 | Human | | name |
| 401908516 | CV2811756 | single nucleotide variant | NM_001379291.1(BRD4):c.760C>T (p.Pro254Ser) | Inborn genetic diseases [RCV004963655]|not provided [RCV003423415] | uncertain significance | 19 | 15265443 | 15265443 | Human | 1 | name |
| 401941716 | CV2839410 | single nucleotide variant | NM_001379291.1(BRD4):c.883A>C (p.Thr295Pro) | Cornelia de Lange syndrome 6 [RCV003449005]|Mental disorder [RCV003985032] | pathogenic|uncertain significance | 19 | 15264733 | 15264733 | Human | 3 | name |
| 402495417 | CV2883765 | single nucleotide variant | NM_001379291.1(BRD4):c.3504C>T (p.Asn1168=) | not provided [RCV003573448] | likely benign | 19 | 15239464 | 15239464 | Human | | name |
| 405121030 | CV2888040 | single nucleotide variant | NM_001379291.1(BRD4):c.682G>A (p.Val228Ile) | not provided [RCV003559094] | benign | 19 | 15265521 | 15265521 | Human | | name |
| 402466320 | CV2914716 | single nucleotide variant | NM_001379291.1(BRD4):c.3192C>G (p.Ser1064=) | not provided [RCV003569424] | likely benign | 19 | 15240000 | 15240000 | Human | | name |
| 402501171 | CV2923102 | single nucleotide variant | NM_001379291.1(BRD4):c.646C>T (p.Pro216Ser) | not provided [RCV003573950] | uncertain significance | 19 | 15265557 | 15265557 | Human | | name |
| 402485204 | CV2931573 | single nucleotide variant | NM_001379291.1(BRD4):c.4080T>C (p.Asn1360=) | not provided [RCV003572461] | likely benign | 19 | 15238386 | 15238386 | Human | | name |
| 405100487 | CV2938329 | single nucleotide variant | NM_001379291.1(BRD4):c.3721C>T (p.Leu1241=) | not provided [RCV003665934] | likely benign | 19 | 15239120 | 15239120 | Human | | name |
| 402508406 | CV2938348 | single nucleotide variant | NM_001379291.1(BRD4):c.3093G>A (p.Pro1031=) | not provided [RCV003662303] | likely benign | 19 | 15242976 | 15242976 | Human | | name |
| 405124907 | CV2939294 | single nucleotide variant | NM_001379291.1(BRD4):c.715A>G (p.Met239Val) | not provided [RCV003671857] | uncertain significance | 19 | 15265488 | 15265488 | Human | | name |
| 402485814 | CV2945067 | single nucleotide variant | NM_001379291.1(BRD4):c.688C>T (p.Pro230Ser) | not provided [RCV003660060] | uncertain significance | 19 | 15265515 | 15265515 | Human | | name |
| 405078693 | CV2945420 | single nucleotide variant | NM_001379291.1(BRD4):c.3735C>G (p.Ala1245=) | not provided [RCV003664443] | likely benign | 19 | 15239106 | 15239106 | Human | | name |
| 405122347 | CV2952568 | single nucleotide variant | NM_001379291.1(BRD4):c.693C>G (p.Asp231Glu) | not provided [RCV003671560] | uncertain significance | 19 | 15265510 | 15265510 | Human | | name |
| 405240910 | CV2970640 | single nucleotide variant | NM_001379291.1(BRD4):c.920C>T (p.Pro307Leu) | Inborn genetic diseases [RCV005311024]|not provided [RCV003684049] | uncertain significance | 19 | 15264696 | 15264696 | Human | 1 | name |
| 405254980 | CV3000084 | single nucleotide variant | NM_001379291.1(BRD4):c.3951C>T (p.Pro1317=) | not provided [RCV003723255] | likely benign | 19 | 15238812 | 15238812 | Human | | name |
| 405058700 | CV3019821 | single nucleotide variant | NM_001379291.1(BRD4):c.338G>T (p.Arg113Leu) | not provided [RCV003697527] | likely pathogenic | 19 | 15268990 | 15268990 | Human | | name |
| 405062023 | CV3020501 | single nucleotide variant | NM_001379291.1(BRD4):c.3858G>A (p.Gln1286=) | not provided [RCV003697754] | likely benign | 19 | 15238905 | 15238905 | Human | | name |
| 405063107 | CV3020612 | single nucleotide variant | NM_001379291.1(BRD4):c.3663C>T (p.Ser1221=) | not provided [RCV003697830] | likely benign | 19 | 15239178 | 15239178 | Human | | name |
| 405122982 | CV3020974 | single nucleotide variant | NM_001379291.1(BRD4):c.746C>G (p.Thr249Arg) | not provided [RCV003700959] | uncertain significance | 19 | 15265457 | 15265457 | Human | | name |
| 405147921 | CV3024073 | single nucleotide variant | NM_001379291.1(BRD4):c.928C>A (p.Pro310Thr) | not provided [RCV003703014] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 15264688 | 15264688 | Human | | name |
| 405148461 | CV3024242 | single nucleotide variant | NM_001379291.1(BRD4):c.3492C>T (p.Pro1164=) | not provided [RCV003703114] | likely benign | 19 | 15239476 | 15239476 | Human | | name |
| 405088469 | CV3024894 | single nucleotide variant | NM_001379291.1(BRD4):c.3720C>G (p.Ala1240=) | not provided [RCV003699490] | likely benign | 19 | 15239121 | 15239121 | Human | | name |
| 405178646 | CV3027486 | single nucleotide variant | NM_001379291.1(BRD4):c.3060C>T (p.Pro1020=) | not provided [RCV003705250] | likely benign | 19 | 15243009 | 15243009 | Human | | name |
| 405183638 | CV3032007 | single nucleotide variant | NM_001379291.1(BRD4):c.3879A>G (p.Gln1293=) | not provided [RCV003705793] | likely benign | 19 | 15238884 | 15238884 | Human | | name |
| 405208781 | CV3037258 | single nucleotide variant | NM_001379291.1(BRD4):c.3594C>T (p.Asn1198=) | not provided [RCV003708359] | likely benign | 19 | 15239247 | 15239247 | Human | | name |
| 405207105 | CV3040120 | single nucleotide variant | NM_001379291.1(BRD4):c.802G>T (p.Val268Leu) | not provided [RCV003708146] | uncertain significance | 19 | 15265401 | 15265401 | Human | | name |
| 405141431 | CV3045993 | single nucleotide variant | NM_001379291.1(BRD4):c.517A>G (p.Ile173Val) | not provided [RCV003725628] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 15267458 | 15267458 | Human | | name |
| 405245855 | CV3051700 | single nucleotide variant | NM_001379291.1(BRD4):c.4059A>G (p.Leu1353=) | not provided [RCV003720409] | likely benign | 19 | 15238407 | 15238407 | Human | | name |
| 405135616 | CV3052128 | single nucleotide variant | NM_001379291.1(BRD4):c.923C>T (p.Ser308Leu) | not provided [RCV003725211] | uncertain significance | 19 | 15264693 | 15264693 | Human | | name |
| 405250700 | CV3053062 | single nucleotide variant | NM_001379291.1(BRD4):c.617C>T (p.Pro206Leu) | not provided [RCV003721694] | uncertain significance | 19 | 15265586 | 15265586 | Human | | name |
| 405181641 | CV3057360 | single nucleotide variant | NM_001379291.1(BRD4):c.3522C>A (p.Ala1174=) | not provided [RCV003728838] | benign | 19 | 15239446 | 15239446 | Human | | name |
| 405151236 | CV3063662 | single nucleotide variant | NM_001379291.1(BRD4):c.3366C>T (p.Ser1122=) | not provided [RCV003726362] | likely benign | 19 | 15239738 | 15239738 | Human | | name |
| 405043105 | CV3074185 | single nucleotide variant | NM_001379291.1(BRD4):c.3933G>A (p.Gln1311=) | not provided [RCV003740070] | likely benign | 19 | 15238830 | 15238830 | Human | | name |
| 405045628 | CV3074357 | single nucleotide variant | NM_001379291.1(BRD4):c.3060C>G (p.Pro1020=) | not provided [RCV003740164] | likely benign | 19 | 15243009 | 15243009 | Human | | name |
| 405076863 | CV3081177 | duplication | NM_001379291.1(BRD4):c.2728dup (p.Gln910fs) | Cornelia de Lange syndrome 6 [RCV003764467] | likely pathogenic | 19 | 15243340 | 15243341 | Human | 1 | name |
| 402516680 | CV3135862 | single nucleotide variant | NM_001379291.1(BRD4):c.3420C>T (p.Ile1140=) | not provided [RCV003824488] | likely benign | 19 | 15239684 | 15239684 | Human | | name |
| 405211394 | CV3146342 | single nucleotide variant | NM_001379291.1(BRD4):c.3498G>A (p.Glu1166=) | not provided [RCV003845873] | likely benign | 19 | 15239470 | 15239470 | Human | | name |
| 405225736 | CV3158896 | single nucleotide variant | NM_001379291.1(BRD4):c.671C>G (p.Pro224Arg) | Inborn genetic diseases [RCV005311090]|not provided [RCV003864198] | uncertain significance | 19 | 15265532 | 15265532 | Human | 1 | name |
| 405237360 | CV3169209 | single nucleotide variant | NM_001379291.1(BRD4):c.3090G>A (p.Pro1030=) | not provided [RCV003866488] | likely benign | 19 | 15242979 | 15242979 | Human | | name |
| 405270144 | CV3187627 | single nucleotide variant | NM_001379291.1(BRD4):c.3471C>T (p.Val1157=) | not provided [RCV003887711] | likely benign | 19 | 15239497 | 15239497 | Human | | name |
| 405256142 | CV3208651 | single nucleotide variant | NM_001379291.1(BRD4):c.3156C>T (p.Asp1052=) | BRD4-related disorder [RCV003939717] | likely benign | 19 | 15242913 | 15242913 | Human | | name , trait , alternate_id |
| 405291219 | CV3222228 | single nucleotide variant | NM_001379291.1(BRD4):c.703C>T (p.Gln235Ter) | Mental disorder [RCV003985063] | likely pathogenic | 19 | 15265500 | 15265500 | Human | 2 | name |
| 405654460 | CV3228124 | single nucleotide variant | NM_001379291.1(BRD4):c.3867G>A (p.Gln1289=) | not specified [RCV003994859] | likely benign | 19 | 15238896 | 15238896 | Human | | name |
| 405765137 | CV3302124 | single nucleotide variant | NM_001379291.1(BRD4):c.577G>A (p.Val193Ile) | Inborn genetic diseases [RCV004434307] | uncertain significance | 19 | 15265626 | 15265626 | Human | 1 | name |
| 405765150 | CV3302126 | single nucleotide variant | NM_001379291.1(BRD4):c.952C>G (p.Leu318Val) | Inborn genetic diseases [RCV004434309] | uncertain significance | 19 | 15264664 | 15264664 | Human | 1 | name |
| 407456369 | CV3415872 | single nucleotide variant | NM_001379291.1(BRD4):c.671C>T (p.Pro224Leu) | not provided [RCV004598749] | uncertain significance | 19 | 15265532 | 15265532 | Human | | name |
| 407481292 | CV3421371 | single nucleotide variant | NM_001379291.1(BRD4):c.825C>G (p.Ile275Met) | Inborn genetic diseases [RCV004602445] | uncertain significance | 19 | 15265378 | 15265378 | Human | 1 | name |
| 407481297 | CV3421372 | single nucleotide variant | NM_001379291.1(BRD4):c.904C>G (p.Pro302Ala) | Inborn genetic diseases [RCV004602446] | uncertain significance | 19 | 15264712 | 15264712 | Human | 1 | name |
| 407481305 | CV3421374 | single nucleotide variant | NM_001379291.1(BRD4):c.763C>T (p.Pro255Ser) | Inborn genetic diseases [RCV004602448] | uncertain significance | 19 | 15265440 | 15265440 | Human | 1 | name |
| 407481310 | CV3421375 | single nucleotide variant | NM_001379291.1(BRD4):c.976C>T (p.Arg326Trp) | Inborn genetic diseases [RCV004602449] | uncertain significance | 19 | 15264640 | 15264640 | Human | 1 | name |
| 408365553 | CV3507540 | single nucleotide variant | NM_001379291.1(BRD4):c.992C>T (p.Pro331Leu) | BRD4-related disorder [RCV004755081] | uncertain significance | 19 | 15264624 | 15264624 | Human | | name , trait , alternate_id |
| 408390812 | CV3527744 | single nucleotide variant | NM_001379291.1(BRD4):c.538G>A (p.Gly180Arg) | not provided [RCV004775013] | uncertain significance | 19 | 15267437 | 15267437 | Human | | name |
| 596920372 | CV3534555 | single nucleotide variant | NM_001379291.1(BRD4):c.3465G>T (p.Val1155=) | not specified [RCV004782116] | likely benign | 19 | 15239503 | 15239503 | Human | | name |
| 596943048 | CV3542733 | single nucleotide variant | NM_001379291.1(BRD4):c.884C>T (p.Thr295Ile) | not provided [RCV004798317] | uncertain significance | 19 | 15264732 | 15264732 | Human | | name |
| 597637340 | CV3637007 | single nucleotide variant | NM_001379291.1(BRD4):c.926T>G (p.Leu309Arg) | Inborn genetic diseases [RCV004970150] | uncertain significance | 19 | 15264690 | 15264690 | Human | 1 | name |
| 597637361 | CV3637012 | single nucleotide variant | NM_001379291.1(BRD4):c.691G>A (p.Asp231Asn) | Inborn genetic diseases [RCV004970155] | uncertain significance | 19 | 15265512 | 15265512 | Human | 1 | name |
| 597720281 | CV3733576 | single nucleotide variant | NM_001379291.1(BRD4):c.875C>G (p.Ala292Gly) | not provided [RCV005052767] | uncertain significance | 19 | 15264741 | 15264741 | Human | | name |
| 597833206 | CV3735514 | single nucleotide variant | NM_001379291.1(BRD4):c.599C>G (p.Thr200Ser) | not provided [RCV005063376] | uncertain significance | 19 | 15265604 | 15265604 | Human | | name |
| 597940635 | CV3772827 | single nucleotide variant | NM_001379291.1(BRD4):c.809G>C (p.Ser270Thr) | not provided [RCV005118457] | uncertain significance | 19 | 15265394 | 15265394 | Human | | name |
| 597937755 | CV3774750 | single nucleotide variant | NM_001379291.1(BRD4):c.338G>A (p.Arg113His) | not provided [RCV005117783] | uncertain significance | 19 | 15268990 | 15268990 | Human | | name |
| 597944429 | CV3776594 | single nucleotide variant | NM_001379291.1(BRD4):c.313A>G (p.Met105Val) | not provided [RCV005119450] | uncertain significance | 19 | 15269015 | 15269015 | Human | | name |
| 597909172 | CV3781969 | single nucleotide variant | NM_001379291.1(BRD4):c.3984C>T (p.Ala1328=) | not provided [RCV005128461] | likely benign | 19 | 15238779 | 15238779 | Human | | name |
| 597947520 | CV3807532 | single nucleotide variant | NM_001379291.1(BRD4):c.3804G>T (p.Ala1268=) | not provided [RCV005160167] | likely benign | 19 | 15238959 | 15238959 | Human | | name |
| 597921758 | CV3808086 | single nucleotide variant | NM_001379291.1(BRD4):c.964C>T (p.Arg322Trp) | not provided [RCV005155794] | uncertain significance | 19 | 15264652 | 15264652 | Human | | name |
| 597916620 | CV3811004 | single nucleotide variant | NM_001379291.1(BRD4):c.3864G>A (p.Gln1288=) | not provided [RCV005155039] | likely benign | 19 | 15238899 | 15238899 | Human | | name |
| 597920224 | CV3811756 | single nucleotide variant | NM_001379291.1(BRD4):c.598A>G (p.Thr200Ala) | not provided [RCV005155587] | uncertain significance | 19 | 15265605 | 15265605 | Human | | name |
| 597874655 | CV3813008 | single nucleotide variant | NM_001379291.1(BRD4):c.3510G>A (p.Pro1170=) | not provided [RCV005148944] | likely benign | 19 | 15239458 | 15239458 | Human | | name |
| 597892120 | CV3822856 | single nucleotide variant | NM_001379291.1(BRD4):c.3804G>A (p.Ala1268=) | not provided [RCV005179932] | likely benign | 19 | 15238959 | 15238959 | Human | | name |
| 597878079 | CV3825879 | single nucleotide variant | NM_001379291.1(BRD4):c.3288G>A (p.Leu1096=) | not provided [RCV005177753] | likely benign | 19 | 15239816 | 15239816 | Human | | name |
| 597897675 | CV3826531 | single nucleotide variant | NM_001379291.1(BRD4):c.3702A>G (p.Lys1234=) | not provided [RCV005180664] | likely benign | 19 | 15239139 | 15239139 | Human | | name |
| 597910683 | CV3830198 | single nucleotide variant | NM_001379291.1(BRD4):c.3345C>T (p.Ile1115=) | not provided [RCV005182768] | likely benign | 19 | 15239759 | 15239759 | Human | | name |
| 597912970 | CV3833730 | single nucleotide variant | NM_001379291.1(BRD4):c.3807G>A (p.Leu1269=) | not provided [RCV005183090] | likely benign | 19 | 15238956 | 15238956 | Human | | name |
| 597956543 | CV3838248 | single nucleotide variant | NM_001379291.1(BRD4):c.3300C>T (p.Ser1100=) | not provided [RCV005191623] | likely benign | 19 | 15239804 | 15239804 | Human | | name |
| 597957140 | CV3838437 | single nucleotide variant | NM_001379291.1(BRD4):c.4057C>T (p.Leu1353=) | not provided [RCV005191812] | likely benign | 19 | 15238409 | 15238409 | Human | | name |
| 597925145 | CV3840511 | single nucleotide variant | NM_001379291.1(BRD4):c.3552G>A (p.Pro1184=) | not provided [RCV005184982] | likely benign | 19 | 15239416 | 15239416 | Human | | name |
| 597934040 | CV3844802 | single nucleotide variant | NM_001379291.1(BRD4):c.3102C>T (p.Ala1034=) | not provided [RCV005186308] | benign | 19 | 15242967 | 15242967 | Human | | name |
| 597948780 | CV3848747 | single nucleotide variant | NM_001379291.1(BRD4):c.3036G>A (p.Pro1012=) | not provided [RCV005189684] | likely benign | 19 | 15243033 | 15243033 | Human | | name |
| 597901650 | CV3855062 | single nucleotide variant | NM_001379291.1(BRD4):c.3213C>A (p.Pro1071=) | not provided [RCV005201971] | likely benign | 19 | 15239979 | 15239979 | Human | | name |
| 597887877 | CV3859399 | single nucleotide variant | NM_001379291.1(BRD4):c.4020C>T (p.Ala1340=) | not provided [RCV005200055] | uncertain significance | 19 | 15238743 | 15238743 | Human | | name |
| 598129884 | CV3887308 | duplication | NM_001379291.1(BRD4):c.2872dup (p.Leu958fs) | not provided [RCV005245368] | likely pathogenic | 19 | 15243196 | 15243197 | Human | | name |
| 598173622 | CV3938880 | single nucleotide variant | NM_001379291.1(BRD4):c.580T>G (p.Ser194Ala) | Inborn genetic diseases [RCV005309581] | uncertain significance | 19 | 15265623 | 15265623 | Human | 1 | name |
| 598173629 | CV3938883 | single nucleotide variant | NM_001379291.1(BRD4):c.754C>T (p.Pro252Ser) | Inborn genetic diseases [RCV005309583] | uncertain significance | 19 | 15265449 | 15265449 | Human | 1 | name |
| 598173640 | CV3938885 | single nucleotide variant | NM_001379291.1(BRD4):c.817C>G (p.Pro273Ala) | Inborn genetic diseases [RCV005309585] | uncertain significance | 19 | 15265386 | 15265386 | Human | 1 | name |
| 598173646 | CV3938886 | single nucleotide variant | NM_001379291.1(BRD4):c.412A>T (p.Ile138Phe) | Inborn genetic diseases [RCV005309586] | uncertain significance | 19 | 15268916 | 15268916 | Human | 1 | name |
| 617154426 | CV4022546 | single nucleotide variant | NM_001379291.1(BRD4):c.352T>C (p.Tyr118His) | not provided [RCV005429903] | uncertain significance | 19 | 15268976 | 15268976 | Human | | name |
| 15160279 | CV716235 | single nucleotide variant | NM_001379291.1(BRD4):c.3681C>T (p.Phe1227=) | not provided [RCV000969869] | benign|likely benign | 19 | 15239160 | 15239160 | Human | | name |
| 15165389 | CV727971 | single nucleotide variant | NM_001379291.1(BRD4):c.3927C>T (p.Thr1309=) | BRD4-related disorder [RCV003940450]|not provided [RCV000882400] | benign | 19 | 15238836 | 15238836 | Human | 1 | name , trait , alternate_id |
| 15201643 | CV727972 | single nucleotide variant | NM_001379291.1(BRD4):c.3690C>T (p.Ala1230=) | not provided [RCV000891249] | benign|likely benign | 19 | 15239151 | 15239151 | Human | | name |
| 15165394 | CV727973 | single nucleotide variant | NM_001379291.1(BRD4):c.3489G>A (p.Arg1163=) | BRD4-related disorder [RCV003940451]|not provided [RCV000882401] | benign | 19 | 15239479 | 15239479 | Human | 1 | name , trait , alternate_id |
| 39456902 | CV966311 | single nucleotide variant | NM_001379291.1(BRD4):c.898A>G (p.Ile300Val) | Inborn genetic diseases [RCV004035358]|not provided [RCV001256032] | uncertain significance | 19 | 15264718 | 15264718 | Human | 1 | name |
| 151716998 | CV1334822 | single nucleotide variant | NM_001379291.1(BRD4):c.1021C>T (p.His341Tyr) | Developmental disorder [RCV001843778] | likely benign | 19 | 15264595 | 15264595 | Human | 1 | name |
| 151824034 | CV1421072 | single nucleotide variant | NM_001379291.1(BRD4):c.2096C>G (p.Ser699Trp) | not provided [RCV001869898] | uncertain significance | 19 | 15254214 | 15254214 | Human | | name |
| 153346198 | CV1691596 | single nucleotide variant | NM_001379291.1(BRD4):c.1507T>A (p.Ser503Thr) | De Lange syndrome [RCV002273079] | uncertain significance | 19 | 15257008 | 15257008 | Human | 1 | name |
| 153346476 | CV1691754 | single nucleotide variant | NM_001379291.1(BRD4):c.2135C>T (p.Ser712Phe) | De Lange syndrome [RCV002273237] | uncertain significance | 19 | 15254175 | 15254175 | Human | 1 | name |
| 155645212 | CV1706795 | single nucleotide variant | NM_001379291.1(BRD4):c.2239C>T (p.Gln747Ter) | not specified [RCV002287868] | pathogenic | 19 | 15244573 | 15244573 | Human | | name |
| 155669650 | CV1770934 | single nucleotide variant | NM_001379291.1(BRD4):c.1781A>T (p.Lys594Met) | not provided [RCV002297267] | uncertain significance | 19 | 15255563 | 15255563 | Human | | name |
| 155669712 | CV1770939 | single nucleotide variant | NM_001379291.1(BRD4):c.2861C>T (p.Pro954Leu) | not provided [RCV002297271] | uncertain significance | 19 | 15243208 | 15243208 | Human | | name |
| 155665193 | CV1773305 | single nucleotide variant | NM_001379291.1(BRD4):c.2356C>T (p.Pro786Ser) | not provided [RCV002297017] | uncertain significance | 19 | 15244456 | 15244456 | Human | | name |
| 155673799 | CV1774270 | single nucleotide variant | NM_001379291.1(BRD4):c.1275G>A (p.Met425Ile) | not provided [RCV002297671] | uncertain significance | 19 | 15263486 | 15263486 | Human | | name |
| 155671164 | CV1775698 | single nucleotide variant | NM_001379291.1(BRD4):c.2543C>T (p.Pro848Leu) | not provided [RCV002297372] | uncertain significance | 19 | 15244269 | 15244269 | Human | | name |
| 155714082 | CV1775975 | single nucleotide variant | NM_001379291.1(BRD4):c.1832C>T (p.Ser611Phe) | not provided [RCV002296316] | uncertain significance | 19 | 15255512 | 15255512 | Human | | name |
| 155686617 | CV1777657 | single nucleotide variant | NM_001379291.1(BRD4):c.1499C>A (p.Thr500Asn) | not provided [RCV002299037] | uncertain significance | 19 | 15257016 | 15257016 | Human | | name |
| 155695894 | CV1778539 | single nucleotide variant | NM_001379291.1(BRD4):c.1642A>G (p.Lys548Glu) | not provided [RCV002299618] | uncertain significance | 19 | 15256173 | 15256173 | Human | | name |
| 155803858 | CV1858424 | single nucleotide variant | NM_001379291.1(BRD4):c.1504G>A (p.Asp502Asn) | not provided [RCV002462734] | uncertain significance | 19 | 15257011 | 15257011 | Human | | name |
| 155797163 | CV1860196 | single nucleotide variant | NM_001379291.1(BRD4):c.2825C>T (p.Thr942Met) | De Lange syndrome [RCV002466837] | uncertain significance | 19 | 15243244 | 15243244 | Human | 1 | name |
| 155998196 | CV1872589 | single nucleotide variant | NM_001379291.1(BRD4):c.2509C>G (p.Pro837Ala) | not provided [RCV003076450] | uncertain significance | 19 | 15244303 | 15244303 | Human | | name |
| 156395409 | CV1877118 | single nucleotide variant | NM_001379291.1(BRD4):c.2363A>G (p.Gln788Arg) | not provided [RCV003068531] | uncertain significance | 19 | 15244449 | 15244449 | Human | | name |
| 156188709 | CV1882698 | single nucleotide variant | NM_001379291.1(BRD4):c.1817A>C (p.Lys606Thr) | not provided [RCV003083802] | uncertain significance | 19 | 15255527 | 15255527 | Human | | name |
| 156371916 | CV1901473 | single nucleotide variant | NM_001379291.1(BRD4):c.2563G>A (p.Ala855Thr) | BRD4-related disorder [RCV004754927]|not provided [RCV002582484] | uncertain significance | 19 | 15244249 | 15244249 | Human | 1 | name , trait , alternate_id |
| 156135372 | CV1914612 | single nucleotide variant | NM_001379291.1(BRD4):c.2980C>T (p.Pro994Ser) | not provided [RCV002623466] | uncertain significance | 19 | 15243089 | 15243089 | Human | | name |
| 156049281 | CV1914967 | single nucleotide variant | NM_001379291.1(BRD4):c.2006G>A (p.Arg669His) | not provided [RCV002620546] | uncertain significance | 19 | 15255338 | 15255338 | Human | | name |
| 156406899 | CV1917909 | single nucleotide variant | NM_001379291.1(BRD4):c.2446G>A (p.Val816Ile) | not provided [RCV002606736] | uncertain significance | 19 | 15244366 | 15244366 | Human | | name |
| 156206917 | CV1922934 | single nucleotide variant | NM_001379291.1(BRD4):c.2419G>A (p.Val807Ile) | not provided [RCV002643842] | uncertain significance | 19 | 15244393 | 15244393 | Human | | name |
| 156434474 | CV1940053 | single nucleotide variant | NM_001379291.1(BRD4):c.2867C>A (p.Pro956His) | not provided [RCV003104468] | uncertain significance | 19 | 15243202 | 15243202 | Human | | name |
| 156440282 | CV1946643 | single nucleotide variant | NM_001379291.1(BRD4):c.2668G>A (p.Val890Met) | not provided [RCV003110313] | uncertain significance | 19 | 15243401 | 15243401 | Human | | name |
| 156446836 | CV1948198 | single nucleotide variant | NM_001379291.1(BRD4):c.2194G>A (p.Gly732Arg) | not provided [RCV003118355] | uncertain significance | 19 | 15244727 | 15244727 | Human | | name |
| 156448439 | CV1950717 | single nucleotide variant | NM_001379291.1(BRD4):c.2707C>G (p.Pro903Ala) | not provided [RCV003120001] | uncertain significance | 19 | 15243362 | 15243362 | Human | | name |
| 155915100 | CV2033331 | single nucleotide variant | NM_001379291.1(BRD4):c.1745A>G (p.Asn582Ser) | Inborn genetic diseases [RCV004603225]|not provided [RCV002750420] | likely benign|uncertain significance | 19 | 15256070 | 15256070 | Human | 1 | name |
| 156010915 | CV2035453 | single nucleotide variant | NM_001379291.1(BRD4):c.1264G>A (p.Val422Ile) | not provided [RCV002795096] | uncertain significance | 19 | 15263497 | 15263497 | Human | | name |
| 156126049 | CV2046776 | single nucleotide variant | NM_001379291.1(BRD4):c.2297C>T (p.Pro766Leu) | not provided [RCV002800423] | uncertain significance | 19 | 15244515 | 15244515 | Human | | name |
| 156027642 | CV2048954 | single nucleotide variant | NM_001379291.1(BRD4):c.1946C>G (p.Pro649Arg) | De Lange syndrome [RCV002795891] | uncertain significance | 19 | 15255398 | 15255398 | Human | 1 | name |
| 156274961 | CV2056157 | single nucleotide variant | NM_001379291.1(BRD4):c.1228C>T (p.Arg410Cys) | not provided [RCV002806792] | uncertain significance | 19 | 15263533 | 15263533 | Human | | name |
| 156107687 | CV2061931 | single nucleotide variant | NM_001379291.1(BRD4):c.2459T>A (p.Ile820Asn) | not provided [RCV002824796] | uncertain significance | 19 | 15244353 | 15244353 | Human | | name |
| 156160972 | CV2074246 | single nucleotide variant | NM_001379291.1(BRD4):c.2864C>A (p.Pro955Gln) | not provided [RCV002851209] | uncertain significance | 19 | 15243205 | 15243205 | Human | | name |
| 156196566 | CV2095373 | single nucleotide variant | NM_001379291.1(BRD4):c.1787C>G (p.Pro596Arg) | not provided [RCV002917638] | uncertain significance | 19 | 15255557 | 15255557 | Human | | name |
| 155946540 | CV2107912 | single nucleotide variant | NM_001379291.1(BRD4):c.1445C>T (p.Pro482Leu) | Inborn genetic diseases [RCV002904799]|not provided [RCV002927165] | likely benign|uncertain significance | 19 | 15257070 | 15257070 | Human | 1 | name |
| 156140252 | CV2109869 | single nucleotide variant | NM_001379291.1(BRD4):c.1688G>A (p.Ser563Asn) | BRD4-related disorder [RCV003936420]|not provided [RCV002928528] | benign | 19 | 15256127 | 15256127 | Human | 1 | name , trait , alternate_id |
| 156388866 | CV2122255 | single nucleotide variant | NM_001379291.1(BRD4):c.2192C>T (p.Pro731Leu) | not provided [RCV002943704] | benign | 19 | 15244729 | 15244729 | Human | | name |
| 156144272 | CV2122608 | single nucleotide variant | NM_001379291.1(BRD4):c.1328C>G (p.Ala443Gly) | not provided [RCV002954342] | uncertain significance | 19 | 15263433 | 15263433 | Human | | name |
| 156005328 | CV2126540 | single nucleotide variant | NM_001379291.1(BRD4):c.2935C>G (p.Pro979Ala) | not provided [RCV002975377] | uncertain significance | 19 | 15243134 | 15243134 | Human | | name |
| 156043078 | CV2127027 | single nucleotide variant | NM_001379291.1(BRD4):c.2461G>A (p.Gly821Ser) | not provided [RCV002949697] | uncertain significance | 19 | 15244351 | 15244351 | Human | | name |
| 156322846 | CV2134275 | single nucleotide variant | NM_001379291.1(BRD4):c.2375C>T (p.Ala792Val) | not provided [RCV002963328] | uncertain significance | 19 | 15244437 | 15244437 | Human | | name |
| 156041012 | CV2146795 | single nucleotide variant | NM_001379291.1(BRD4):c.2503C>G (p.Leu835Val) | not provided [RCV003019057] | uncertain significance | 19 | 15244309 | 15244309 | Human | | name |
| 155912265 | CV2153363 | single nucleotide variant | NM_001379291.1(BRD4):c.2333C>G (p.Pro778Arg) | not provided [RCV003012342] | benign | 19 | 15244479 | 15244479 | Human | | name |
| 156302439 | CV2156630 | single nucleotide variant | NM_001379291.1(BRD4):c.2627G>A (p.Arg876Gln) | not provided [RCV003010450] | uncertain significance | 19 | 15243442 | 15243442 | Human | | name |
| 156259256 | CV2159404 | single nucleotide variant | NM_001379291.1(BRD4):c.1322C>T (p.Ala441Val) | not provided [RCV003026604] | uncertain significance | 19 | 15263439 | 15263439 | Human | | name |
| 156356966 | CV2166031 | single nucleotide variant | NM_001379291.1(BRD4):c.2561A>T (p.His854Leu) | not provided [RCV003031299] | uncertain significance | 19 | 15244251 | 15244251 | Human | | name |
| 156337109 | CV2168515 | single nucleotide variant | NM_001379291.1(BRD4):c.1740C>G (p.Asn580Lys) | not provided [RCV003030083] | uncertain significance | 19 | 15256075 | 15256075 | Human | | name |
| 156126721 | CV2185690 | single nucleotide variant | NM_001379291.1(BRD4):c.2375C>A (p.Ala792Glu) | not provided [RCV003055679] | uncertain significance | 19 | 15244437 | 15244437 | Human | | name |
| 156163371 | CV2319625 | single nucleotide variant | NM_001379291.1(BRD4):c.1733G>A (p.Ser578Asn) | Inborn genetic diseases [RCV002955403]|not provided [RCV003669347] | uncertain significance | 19 | 15256082 | 15256082 | Human | 1 | name |
| 156052930 | CV2336775 | single nucleotide variant | NM_001379291.1(BRD4):c.1694C>T (p.Ala565Val) | Inborn genetic diseases [RCV002977902]|not provided [RCV003546931] | uncertain significance | 19 | 15256121 | 15256121 | Human | 1 | name |
| 243049703 | CV2417065 | single nucleotide variant | NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys) | Cornelia de Lange syndrome 6 [RCV003448989]|See cases [RCV003151935] | pathogenic|likely pathogenic | 19 | 15263472 | 15263472 | Human | 1 | name |
| 243050334 | CV2417413 | single nucleotide variant | NM_001379291.1(BRD4):c.2078C>G (p.Ser693Cys) | not provided [RCV003152285] | uncertain significance | 19 | 15254232 | 15254232 | Human | | name |
| 329350184 | CV2421604 | single nucleotide variant | NM_001379291.1(BRD4):c.1982C>T (p.Pro661Leu) | not provided [RCV003159306] | uncertain significance | 19 | 15255362 | 15255362 | Human | | name |
| 329395749 | CV2454521 | single nucleotide variant | NM_001379291.1(BRD4):c.2015C>T (p.Thr672Ile) | Inborn genetic diseases [RCV003194583] | uncertain significance | 19 | 15255329 | 15255329 | Human | 1 | name |
| 329385533 | CV2462001 | single nucleotide variant | NM_001379291.1(BRD4):c.1613A>G (p.Lys538Arg) | Inborn genetic diseases [RCV003214463] | uncertain significance | 19 | 15256202 | 15256202 | Human | 1 | name |
| 401723808 | CV2672184 | single nucleotide variant | NM_001379291.1(BRD4):c.1400C>T (p.Ala467Val) | not provided [RCV003239085] | uncertain significance | 19 | 15257115 | 15257115 | Human | | name |
| 401796349 | CV2740532 | single nucleotide variant | NM_001379291.1(BRD4):c.1009G>A (p.Asp337Asn) | not provided [RCV003321202] | uncertain significance | 19 | 15264607 | 15264607 | Human | | name |
| 401924254 | CV2795113 | single nucleotide variant | NM_001379291.1(BRD4):c.1292A>C (p.Lys431Thr) | Cornelia de Lange syndrome 1 [RCV003388887] | uncertain significance | 19 | 15263469 | 15263469 | Human | 1 | name |
| 401931685 | CV2801535 | single nucleotide variant | NM_001379291.1(BRD4):c.2041C>T (p.Pro681Ser) | BRD4-related disorder [RCV003391549] | uncertain significance | 19 | 15255303 | 15255303 | Human | | name , trait , alternate_id |
| 401937102 | CV2811750 | single nucleotide variant | NM_001379291.1(BRD4):c.1775A>G (p.Lys592Arg) | not provided [RCV003415122] | uncertain significance | 19 | 15255569 | 15255569 | Human | | name |
| 401908511 | CV2811751 | single nucleotide variant | NM_001379291.1(BRD4):c.1496C>T (p.Ser499Leu) | not provided [RCV003423411] | uncertain significance | 19 | 15257019 | 15257019 | Human | | name |
| 402477379 | CV2853745 | single nucleotide variant | NM_001379291.1(BRD4):c.1861G>A (p.Asp621Asn) | not provided [RCV003543602] | uncertain significance | 19 | 15255483 | 15255483 | Human | | name |
| 405208287 | CV2870502 | single nucleotide variant | NM_001379291.1(BRD4):c.1424C>T (p.Pro475Leu) | not provided [RCV003552230] | uncertain significance | 19 | 15257091 | 15257091 | Human | | name |
| 405193728 | CV2872353 | single nucleotide variant | NM_001379291.1(BRD4):c.2054A>C (p.Lys685Thr) | not provided [RCV003550641] | uncertain significance | 19 | 15254256 | 15254256 | Human | | name |
| 405216309 | CV2872462 | single nucleotide variant | NM_001379291.1(BRD4):c.1807G>T (p.Glu603Ter) | not provided [RCV003553242] | pathogenic | 19 | 15255537 | 15255537 | Human | | name |
| 405216408 | CV2872478 | single nucleotide variant | NM_001379291.1(BRD4):c.1653C>A (p.His551Gln) | not provided [RCV003553254] | uncertain significance | 19 | 15256162 | 15256162 | Human | | name |
| 402504407 | CV2880025 | single nucleotide variant | NM_001379291.1(BRD4):c.1214C>A (p.Ser405Tyr) | not provided [RCV003546226] | uncertain significance | 19 | 15263547 | 15263547 | Human | | name |
| 405147119 | CV2881613 | single nucleotide variant | NM_001379291.1(BRD4):c.1402G>A (p.Val468Met) | not provided [RCV003561447] | uncertain significance | 19 | 15257113 | 15257113 | Human | | name |
| 402493492 | CV2887088 | single nucleotide variant | NM_001379291.1(BRD4):c.2708C>G (p.Pro903Arg) | not provided [RCV003573253] | uncertain significance | 19 | 15243361 | 15243361 | Human | | name |
| 405226828 | CV2888850 | single nucleotide variant | NM_001379291.1(BRD4):c.2771C>T (p.Thr924Ile) | not provided [RCV003554809] | uncertain significance | 19 | 15243298 | 15243298 | Human | | name |
| 405240463 | CV2893017 | single nucleotide variant | NM_001379291.1(BRD4):c.1611G>C (p.Lys537Asn) | not provided [RCV003557297] | uncertain significance | 19 | 15256204 | 15256204 | Human | | name |
| 405186743 | CV2921446 | single nucleotide variant | NM_001379291.1(BRD4):c.2810A>G (p.Lys937Arg) | not provided [RCV003564503] | uncertain significance | 19 | 15243259 | 15243259 | Human | | name |
| 402487476 | CV2928553 | single nucleotide variant | NM_001379291.1(BRD4):c.1412C>T (p.Pro471Leu) | not provided [RCV003572676] | uncertain significance | 19 | 15257103 | 15257103 | Human | | name |
| 405087449 | CV2943307 | single nucleotide variant | NM_001379291.1(BRD4):c.2615G>A (p.Arg872Gln) | not provided [RCV003665048] | uncertain significance | 19 | 15243454 | 15243454 | Human | | name |
| 405132010 | CV2949999 | single nucleotide variant | NM_001379291.1(BRD4):c.1064A>G (p.Lys355Arg) | not provided [RCV003672491] | uncertain significance | 19 | 15264552 | 15264552 | Human | | name |
| 405176799 | CV2952006 | single nucleotide variant | NM_001379291.1(BRD4):c.2866C>A (p.Pro956Thr) | not provided [RCV003675901] | uncertain significance | 19 | 15243203 | 15243203 | Human | | name |
| 405159010 | CV2956766 | single nucleotide variant | NM_001379291.1(BRD4):c.2752C>T (p.Pro918Ser) | not provided [RCV003674547] | uncertain significance | 19 | 15243317 | 15243317 | Human | | name |
| 405120029 | CV2957629 | single nucleotide variant | NM_001379291.1(BRD4):c.1802C>G (p.Ser601Trp) | not provided [RCV003667345] | uncertain significance | 19 | 15255542 | 15255542 | Human | | name |
| 405148015 | CV2960066 | single nucleotide variant | NM_001379291.1(BRD4):c.1072A>G (p.Ser358Gly) | not provided [RCV003669789] | uncertain significance | 19 | 15264544 | 15264544 | Human | | name |
| 405244660 | CV2968341 | single nucleotide variant | NM_001379291.1(BRD4):c.2593G>A (p.Ala865Thr) | not provided [RCV003684911] | uncertain significance | 19 | 15243476 | 15243476 | Human | | name |
| 405205314 | CV2990595 | single nucleotide variant | NM_001379291.1(BRD4):c.2132C>G (p.Ser711Cys) | not provided [RCV003678579] | uncertain significance | 19 | 15254178 | 15254178 | Human | | name |
| 405123414 | CV3020927 | single nucleotide variant | NM_001379291.1(BRD4):c.2828C>A (p.Pro943Gln) | not provided [RCV003700923] | uncertain significance | 19 | 15243241 | 15243241 | Human | | name |
| 405052088 | CV3022170 | single nucleotide variant | NM_001379291.1(BRD4):c.2891C>T (p.Pro964Leu) | not provided [RCV003697078] | uncertain significance | 19 | 15243178 | 15243178 | Human | | name |
| 405145412 | CV3023868 | single nucleotide variant | NM_001379291.1(BRD4):c.2026C>T (p.Arg676Trp) | not provided [RCV003702884] | uncertain significance | 19 | 15255318 | 15255318 | Human | | name |
| 405149363 | CV3024248 | single nucleotide variant | NM_001379291.1(BRD4):c.2308C>G (p.Pro770Ala) | not provided [RCV003703118] | uncertain significance | 19 | 15244504 | 15244504 | Human | | name |
| 405122324 | CV3024638 | single nucleotide variant | NM_001379291.1(BRD4):c.1718C>T (p.Thr573Met) | not provided [RCV003700825] | uncertain significance | 19 | 15256097 | 15256097 | Human | | name |
| 405177564 | CV3027454 | single nucleotide variant | NM_001379291.1(BRD4):c.2921C>T (p.Pro974Leu) | not provided [RCV003705231] | uncertain significance | 19 | 15243148 | 15243148 | Human | | name |
| 405179813 | CV3027729 | single nucleotide variant | NM_001379291.1(BRD4):c.2345C>T (p.Pro782Leu) | not provided [RCV003705420] | uncertain significance | 19 | 15244467 | 15244467 | Human | | name |
| 405205388 | CV3033704 | single nucleotide variant | NM_001379291.1(BRD4):c.2279C>G (p.Pro760Arg) | not provided [RCV003707937] | uncertain significance | 19 | 15244533 | 15244533 | Human | | name |
| 405185217 | CV3040359 | single nucleotide variant | NM_001379291.1(BRD4):c.1357C>T (p.Arg453Cys) | not provided [RCV003705951] | uncertain significance | 19 | 15257158 | 15257158 | Human | | name |
| 405200078 | CV3041182 | single nucleotide variant | NM_001379291.1(BRD4):c.2152G>A (p.Glu718Lys) | not provided [RCV003707357] | uncertain significance | 19 | 15254158 | 15254158 | Human | | name |
| 405200982 | CV3041325 | single nucleotide variant | NM_001379291.1(BRD4):c.2143G>A (p.Glu715Lys) | not provided [RCV003707438] | uncertain significance | 19 | 15254167 | 15254167 | Human | | name |
| 405163883 | CV3059388 | single nucleotide variant | NM_001379291.1(BRD4):c.1111G>A (p.Ala371Thr) | not provided [RCV003727291] | uncertain significance | 19 | 15264505 | 15264505 | Human | | name |
| 405184346 | CV3061837 | single nucleotide variant | NM_001379291.1(BRD4):c.2510C>G (p.Pro837Arg) | not provided [RCV003729117] | uncertain significance | 19 | 15244302 | 15244302 | Human | | name |
| 405162950 | CV3062754 | single nucleotide variant | NM_001379291.1(BRD4):c.2876C>T (p.Pro959Leu) | not provided [RCV003727228] | uncertain significance | 19 | 15243193 | 15243193 | Human | | name |
| 405212043 | CV3063140 | single nucleotide variant | NM_001379291.1(BRD4):c.2272C>T (p.Pro758Ser) | not provided [RCV003732148] | uncertain significance | 19 | 15244540 | 15244540 | Human | | name |
| 405041887 | CV3064082 | single nucleotide variant | NM_001379291.1(BRD4):c.2357C>T (p.Pro786Leu) | not provided [RCV003739961] | likely benign | 19 | 15244455 | 15244455 | Human | | name |
| 405231335 | CV3070615 | single nucleotide variant | NM_001379291.1(BRD4):c.2458A>G (p.Ile820Val) | not provided [RCV003734957] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 15244354 | 15244354 | Human | | name |
| 402516720 | CV3135865 | single nucleotide variant | NM_001379291.1(BRD4):c.2281C>T (p.Pro761Ser) | not provided [RCV003824491] | uncertain significance | 19 | 15244531 | 15244531 | Human | | name |
| 405211401 | CV3146343 | single nucleotide variant | NM_001379291.1(BRD4):c.2347C>T (p.Pro783Ser) | not provided [RCV003845874] | uncertain significance | 19 | 15244465 | 15244465 | Human | | name |
| 402483668 | CV3171192 | single nucleotide variant | NM_001379291.1(BRD4):c.2075C>T (p.Ser692Phe) | not provided [RCV003876219] | uncertain significance | 19 | 15254235 | 15254235 | Human | | name |
| 405255540 | CV3172450 | single nucleotide variant | NM_001379291.1(BRD4):c.2750A>G (p.Glu917Gly) | not provided [RCV003872388] | uncertain significance | 19 | 15243319 | 15243319 | Human | | name |
| 405260091 | CV3186552 | single nucleotide variant | NM_001379291.1(BRD4):c.2464C>A (p.His822Asn) | not provided [RCV003884311] | uncertain significance | 19 | 15244348 | 15244348 | Human | | name |
| 405262025 | CV3194357 | single nucleotide variant | NM_001379291.1(BRD4):c.2843T>C (p.Val948Ala) | BRD4-related disorder [RCV003896389] | uncertain significance | 19 | 15243226 | 15243226 | Human | | name , trait , alternate_id |
| 405291220 | CV3222229 | single nucleotide variant | NM_001379291.1(BRD4):c.1169A>G (p.Tyr390Cys) | Learning Disabilities, Adolescent [RCV003985064] | uncertain significance | 19 | 15264447 | 15264447 | Human | | name |
| 405765105 | CV3302119 | single nucleotide variant | NM_001379291.1(BRD4):c.1180A>G (p.Ile394Val) | Inborn genetic diseases [RCV004434302] | uncertain significance | 19 | 15264436 | 15264436 | Human | 1 | name |
| 405765111 | CV3302120 | single nucleotide variant | NM_001379291.1(BRD4):c.1225G>A (p.Ala409Thr) | Inborn genetic diseases [RCV004434303]|not provided [RCV005104576] | uncertain significance | 19 | 15263536 | 15263536 | Human | 1 | name |
| 405765117 | CV3302121 | single nucleotide variant | NM_001379291.1(BRD4):c.1490A>G (p.Asp497Gly) | Inborn genetic diseases [RCV004434304] | uncertain significance | 19 | 15257025 | 15257025 | Human | 1 | name |
| 405765123 | CV3302122 | single nucleotide variant | NM_001379291.1(BRD4):c.1831T>A (p.Ser611Thr) | Inborn genetic diseases [RCV004434305] | uncertain significance | 19 | 15255513 | 15255513 | Human | 1 | name |
| 405765129 | CV3302123 | single nucleotide variant | NM_001379291.1(BRD4):c.2112G>C (p.Glu704Asp) | Inborn genetic diseases [RCV004434306] | uncertain significance | 19 | 15254198 | 15254198 | Human | 1 | name |
| 407481301 | CV3421373 | single nucleotide variant | NM_001379291.1(BRD4):c.1628A>G (p.Lys543Arg) | Inborn genetic diseases [RCV004602447] | uncertain significance | 19 | 15256187 | 15256187 | Human | 1 | name |
| 407481316 | CV3421376 | single nucleotide variant | NM_001379291.1(BRD4):c.2057T>C (p.Val686Ala) | Inborn genetic diseases [RCV004602450] | uncertain significance | 19 | 15254253 | 15254253 | Human | 1 | name |
| 408365583 | CV3508108 | single nucleotide variant | NM_001379291.1(BRD4):c.2389C>T (p.Pro797Ser) | BRD4-related disorder [RCV004755117] | uncertain significance | 19 | 15244423 | 15244423 | Human | | name , trait , alternate_id |
| 408388680 | CV3522703 | single nucleotide variant | NM_001379291.1(BRD4):c.1774A>G (p.Lys592Glu) | not provided [RCV004769084] | uncertain significance | 19 | 15255570 | 15255570 | Human | | name |
| 408390782 | CV3527728 | single nucleotide variant | NM_001379291.1(BRD4):c.1574T>C (p.Leu525Pro) | not provided [RCV004774997] | uncertain significance | 19 | 15256241 | 15256241 | Human | | name |
| 408386466 | CV3528940 | single nucleotide variant | NM_001379291.1(BRD4):c.1448C>T (p.Pro483Leu) | not provided [RCV004772773] | uncertain significance | 19 | 15257067 | 15257067 | Human | | name |
| 596922602 | CV3530005 | single nucleotide variant | NM_001379291.1(BRD4):c.2579C>G (p.Pro860Arg) | not provided [RCV004776604] | uncertain significance | 19 | 15244233 | 15244233 | Human | | name |
| 596921326 | CV3534881 | single nucleotide variant | NM_001379291.1(BRD4):c.1015C>G (p.Gln339Glu) | not provided [RCV004784439] | uncertain significance | 19 | 15264601 | 15264601 | Human | | name |
| 596943941 | CV3544447 | single nucleotide variant | NM_001379291.1(BRD4):c.2308C>T (p.Pro770Ser) | not specified [RCV004800927] | uncertain significance | 19 | 15244504 | 15244504 | Human | | name |
| 597632285 | CV3552814 | single nucleotide variant | NM_001379291.1(BRD4):c.1084A>C (p.Lys362Gln) | not provided [RCV004823642] | uncertain significance | 19 | 15264532 | 15264532 | Human | | name |
| 597637336 | CV3637006 | single nucleotide variant | NM_001379291.1(BRD4):c.1766C>T (p.Ala589Val) | Inborn genetic diseases [RCV004970149] | uncertain significance | 19 | 15255578 | 15255578 | Human | 1 | name |
| 597637345 | CV3637008 | single nucleotide variant | NM_001379291.1(BRD4):c.1417G>A (p.Val473Met) | Inborn genetic diseases [RCV004970151] | uncertain significance | 19 | 15257098 | 15257098 | Human | 1 | name |
| 597637351 | CV3637010 | single nucleotide variant | NM_001379291.1(BRD4):c.1172G>A (p.Cys391Tyr) | Inborn genetic diseases [RCV004970153] | uncertain significance | 19 | 15264444 | 15264444 | Human | 1 | name |
| 597637363 | CV3637013 | single nucleotide variant | NM_001379291.1(BRD4):c.1669G>A (p.Val557Met) | Inborn genetic diseases [RCV004970156] | uncertain significance | 19 | 15256146 | 15256146 | Human | 1 | name |
| 597656516 | CV3731583 | single nucleotide variant | NM_001379291.1(BRD4):c.2713A>G (p.Met905Val) | not provided [RCV005001764] | uncertain significance | 19 | 15243356 | 15243356 | Human | | name |
| 597669523 | CV3732797 | single nucleotide variant | NM_001379291.1(BRD4):c.2104G>C (p.Glu702Gln) | not provided [RCV005004629] | uncertain significance | 19 | 15254206 | 15254206 | Human | | name |
| 597719926 | CV3733550 | single nucleotide variant | NM_001379291.1(BRD4):c.2833C>G (p.Leu945Val) | not provided [RCV005052740] | uncertain significance | 19 | 15243236 | 15243236 | Human | | name |
| 597869358 | CV3764605 | single nucleotide variant | NM_001379291.1(BRD4):c.2084T>C (p.Met695Thr) | not provided [RCV005107404] | uncertain significance | 19 | 15254226 | 15254226 | Human | | name |
| 597875752 | CV3766519 | single nucleotide variant | NM_001379291.1(BRD4):c.2204A>G (p.Gln735Arg) | not provided [RCV005108459] | uncertain significance | 19 | 15244717 | 15244717 | Human | | name |
| 597914790 | CV3778910 | single nucleotide variant | NM_001379291.1(BRD4):c.1747G>A (p.Val583Met) | not provided [RCV005129255] | uncertain significance | 19 | 15256068 | 15256068 | Human | | name |
| 597954522 | CV3795800 | single nucleotide variant | NM_001379291.1(BRD4):c.2778G>A (p.Met926Ile) | not provided [RCV005136810] | uncertain significance | 19 | 15243291 | 15243291 | Human | | name |
| 597955354 | CV3796212 | single nucleotide variant | NM_001379291.1(BRD4):c.2890C>T (p.Pro964Ser) | not provided [RCV005137029] | uncertain significance | 19 | 15243179 | 15243179 | Human | | name |
| 597852951 | CV3805746 | single nucleotide variant | NM_001379291.1(BRD4):c.1792A>T (p.Thr598Ser) | not provided [RCV005145676] | uncertain significance | 19 | 15255552 | 15255552 | Human | | name |
| 597936502 | CV3807655 | single nucleotide variant | NM_001379291.1(BRD4):c.2822C>T (p.Pro941Leu) | not provided [RCV005158034] | uncertain significance | 19 | 15243247 | 15243247 | Human | | name |
| 597924580 | CV3808662 | single nucleotide variant | NM_001379291.1(BRD4):c.2932C>A (p.Pro978Thr) | not provided [RCV005156176] | uncertain significance | 19 | 15243137 | 15243137 | Human | | name |
| 597894547 | CV3810071 | single nucleotide variant | NM_001379291.1(BRD4):c.1402G>C (p.Val468Leu) | not provided [RCV005151792] | uncertain significance | 19 | 15257113 | 15257113 | Human | | name |
| 597877452 | CV3813390 | single nucleotide variant | NM_001379291.1(BRD4):c.1742G>A (p.Ser581Asn) | not provided [RCV005149326] | uncertain significance | 19 | 15256073 | 15256073 | Human | | name |
| 597862146 | CV3813852 | single nucleotide variant | NM_001379291.1(BRD4):c.2890C>G (p.Pro964Ala) | not provided [RCV005146920] | uncertain significance | 19 | 15243179 | 15243179 | Human | | name |
| 597861300 | CV3822493 | single nucleotide variant | NM_001379291.1(BRD4):c.1229G>A (p.Arg410His) | not provided [RCV005175023] | uncertain significance | 19 | 15263532 | 15263532 | Human | | name |
| 597892259 | CV3822876 | single nucleotide variant | NM_001379291.1(BRD4):c.2378T>C (p.Met793Thr) | not provided [RCV005179952] | uncertain significance | 19 | 15244434 | 15244434 | Human | | name |
| 597930835 | CV3827018 | single nucleotide variant | NM_001379291.1(BRD4):c.2152G>C (p.Glu718Gln) | not provided [RCV005157031] | uncertain significance | 19 | 15254158 | 15254158 | Human | | name |
| 597930981 | CV3837640 | single nucleotide variant | NM_001379291.1(BRD4):c.2071G>A (p.Gly691Ser) | Inborn genetic diseases [RCV005311214]|not provided [RCV005185800] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 15254239 | 15254239 | Human | 1 | name |
| 597922305 | CV3843227 | single nucleotide variant | NM_001379291.1(BRD4):c.1790C>T (p.Pro597Leu) | not provided [RCV005184519] | uncertain significance | 19 | 15255554 | 15255554 | Human | | name |
| 597951846 | CV3847482 | single nucleotide variant | NM_001379291.1(BRD4):c.1459G>A (p.Asp487Asn) | not provided [RCV005190464] | uncertain significance | 19 | 15257056 | 15257056 | Human | | name |
| 598173624 | CV3938881 | single nucleotide variant | NM_001379291.1(BRD4):c.1717A>T (p.Thr573Ser) | Inborn genetic diseases [RCV005309582] | uncertain significance | 19 | 15256098 | 15256098 | Human | 1 | name |
| 598210744 | CV3938882 | single nucleotide variant | NM_001379291.1(BRD4):c.1847G>A (p.Arg616Gln) | Inborn genetic diseases [RCV005315908] | uncertain significance | 19 | 15255497 | 15255497 | Human | 1 | name |
| 598173635 | CV3938884 | single nucleotide variant | NM_001379291.1(BRD4):c.1963G>A (p.Asp655Asn) | Inborn genetic diseases [RCV005309584] | uncertain significance | 19 | 15255381 | 15255381 | Human | 1 | name |
| 616934346 | CV4012344 | single nucleotide variant | NM_001379291.1(BRD4):c.2918A>G (p.Gln973Arg) | not specified [RCV005409380] | uncertain significance | 19 | 15243151 | 15243151 | Human | | name |
| 13532961 | CV512396 | single nucleotide variant | NM_001379291.1(BRD4):c.1550A>C (p.Gln517Pro) | Inborn genetic diseases [RCV000624732] | likely pathogenic|uncertain significance | 19 | 15256965 | 15256965 | Human | 1 | name |
| 14350151 | CV590904 | single nucleotide variant | NM_001379291.1(BRD4):c.1856G>T (p.Ser619Ile) | Short stature [RCV000736205] | likely pathogenic | 19 | 15255488 | 15255488 | Human | 2 | name |
| 40816254 | CV969254 | single nucleotide variant | NM_001379291.1(BRD4):c.1164C>A (p.His388Gln) | De Lange syndrome [RCV001824169] | uncertain significance | 19 | 15264452 | 15264452 | Human | 1 | name |
| 152086653 | CV1578157 | single nucleotide variant | NM_001379291.1(BRD4):c.3290G>A (p.Arg1097His) | not provided [RCV002171257] | benign|likely benign | 19 | 15239814 | 15239814 | Human | | name |
| 155265134 | CV1704617 | single nucleotide variant | NM_001379291.1(BRD4):c.3088C>G (p.Pro1030Ala) | not provided [RCV002284833] | uncertain significance | 19 | 15242981 | 15242981 | Human | | name |
| 155641652 | CV1709887 | duplication | NM_001379291.1(BRD4):c.2158+2707_2158+2713dup | not provided [RCV002292987] | benign | 19 | 15251438 | 15251439 | Human | | name |
| 156382154 | CV1868574 | single nucleotide variant | NM_001379291.1(BRD4):c.3868C>T (p.Arg1290Cys) | not provided [RCV003050573] | uncertain significance | 19 | 15238895 | 15238895 | Human | | name |
| 156393999 | CV1876282 | single nucleotide variant | NM_001379291.1(BRD4):c.3035C>T (p.Pro1012Leu) | not provided [RCV003068368] | likely benign | 19 | 15243034 | 15243034 | Human | | name |
| 156194455 | CV1889439 | single nucleotide variant | NM_001379291.1(BRD4):c.3743C>T (p.Ala1248Val) | not provided [RCV003083985] | benign|likely benign | 19 | 15239098 | 15239098 | Human | | name |
| 156321487 | CV1897877 | single nucleotide variant | NM_001379291.1(BRD4):c.3061C>A (p.His1021Asn) | BRD4-related disorder [RCV003936571]|not provided [RCV002579271] | benign | 19 | 15243008 | 15243008 | Human | 1 | name , trait , alternate_id |
| 156414655 | CV1908983 | single nucleotide variant | NM_001379291.1(BRD4):c.3430G>A (p.Val1144Ile) | not provided [RCV002588733] | likely benign | 19 | 15239674 | 15239674 | Human | | name |
| 156208317 | CV1913346 | single nucleotide variant | NM_001379291.1(BRD4):c.3067C>T (p.Pro1023Ser) | not provided [RCV002595970] | likely benign | 19 | 15243002 | 15243002 | Human | | name |
| 156441722 | CV1941050 | single nucleotide variant | NM_001379291.1(BRD4):c.3021C>A (p.His1007Gln) | not provided [RCV003112053] | uncertain significance | 19 | 15243048 | 15243048 | Human | | name |
| 156446795 | CV1948152 | single nucleotide variant | NM_001379291.1(BRD4):c.3925A>G (p.Thr1309Ala) | not provided [RCV003118313] | uncertain significance | 19 | 15238838 | 15238838 | Human | | name |
| 156039370 | CV1998943 | single nucleotide variant | NM_001379291.1(BRD4):c.3509C>T (p.Pro1170Leu) | not provided [RCV002658974] | uncertain significance | 19 | 15239459 | 15239459 | Human | | name |
| 156055723 | CV2023862 | single nucleotide variant | NM_001379291.1(BRD4):c.3664G>A (p.Asp1222Asn) | not provided [RCV002736658] | uncertain significance | 19 | 15239177 | 15239177 | Human | | name |
| 156040991 | CV2026381 | single nucleotide variant | NM_001379291.1(BRD4):c.3055C>T (p.Pro1019Ser) | not provided [RCV002736183] | uncertain significance | 19 | 15243014 | 15243014 | Human | | name |
| 156051858 | CV2027382 | single nucleotide variant | NM_001379291.1(BRD4):c.3265G>A (p.Val1089Ile) | not provided [RCV002736538] | uncertain significance | 19 | 15239927 | 15239927 | Human | | name |
| 155915410 | CV2033394 | single nucleotide variant | NM_001379291.1(BRD4):c.3814G>A (p.Ala1272Thr) | not provided [RCV002750438] | uncertain significance | 19 | 15238949 | 15238949 | Human | | name |
| 156213319 | CV2038866 | single nucleotide variant | NM_001379291.1(BRD4):c.3919G>A (p.Ala1307Thr) | not provided [RCV002766687] | uncertain significance | 19 | 15238844 | 15238844 | Human | | name |
| 156001864 | CV2045612 | single nucleotide variant | NM_001379291.1(BRD4):c.3566C>T (p.Ala1189Val) | not provided [RCV002756246] | uncertain significance | 19 | 15239402 | 15239402 | Human | | name |
| 156314999 | CV2074804 | single nucleotide variant | NM_001379291.1(BRD4):c.3113A>G (p.Gln1038Arg) | not provided [RCV002834347] | uncertain significance | 19 | 15242956 | 15242956 | Human | | name |
| 156388501 | CV2122221 | single nucleotide variant | NM_001379291.1(BRD4):c.3038C>T (p.Pro1013Leu) | not provided [RCV002943677] | uncertain significance | 19 | 15243031 | 15243031 | Human | | name |
| 156121851 | CV2128563 | single nucleotide variant | NM_001379291.1(BRD4):c.3389G>A (p.Arg1130Gln) | not provided [RCV002953528] | uncertain significance | 19 | 15239715 | 15239715 | Human | | name |
| 155939943 | CV2142847 | single nucleotide variant | NM_001379291.1(BRD4):c.3169G>A (p.Gly1057Ser) | not provided [RCV002993986] | uncertain significance | 19 | 15242900 | 15242900 | Human | | name |
| 155944222 | CV2143188 | single nucleotide variant | NM_001379291.1(BRD4):c.3070C>T (p.Pro1024Ser) | not provided [RCV002994248] | uncertain significance | 19 | 15242999 | 15242999 | Human | | name |
| 155969895 | CV2157937 | single nucleotide variant | NM_001379291.1(BRD4):c.4033A>G (p.Ile1345Val) | not provided [RCV003033385] | uncertain significance | 19 | 15238433 | 15238433 | Human | | name |
| 156187582 | CV2178769 | single nucleotide variant | NM_001379291.1(BRD4):c.3396G>C (p.Glu1132Asp) | not provided [RCV003057726] | uncertain significance | 19 | 15239708 | 15239708 | Human | | name |
| 401908492 | CV2811715 | single nucleotide variant | NM_001379291.1(BRD4):c.3139C>T (p.Arg1047Trp) | not provided [RCV003423397] | uncertain significance | 19 | 15242930 | 15242930 | Human | | name |
| 401908500 | CV2811735 | duplication | NM_001379291.1(BRD4):c.2158+2712_2158+2713dup | not provided [RCV003423403] | benign | 19 | 15251438 | 15251439 | Human | | name |
| 401908501 | CV2811736 | duplication | NM_001379291.1(BRD4):c.2158+2710_2158+2713dup | not provided [RCV003423404] | likely benign | 19 | 15251438 | 15251439 | Human | | name |
| 401908503 | CV2811737 | duplication | NM_001379291.1(BRD4):c.2158+2706_2158+2713dup | not provided [RCV003423405] | benign | 19 | 15251438 | 15251439 | Human | | name |
| 401908504 | CV2811738 | duplication | NM_001379291.1(BRD4):c.2158+2705_2158+2713dup | not provided [RCV003423406] | benign|likely benign | 19 | 15251438 | 15251439 | Human | | name |
| 401907026 | CV2811739 | deletion | NM_001379291.1(BRD4):c.2158+2706_2158+2713del | not provided [RCV003421888] | benign | 19 | 15251439 | 15251446 | Human | | name |
| 401916647 | CV2811741 | deletion | NM_001379291.1(BRD4):c.2158+2696_2158+2704del | not provided [RCV003429164] | likely benign | 19 | 15251448 | 15251456 | Human | | name |
| 402498709 | CV2871902 | single nucleotide variant | NM_001379291.1(BRD4):c.3766C>T (p.Arg1256Trp) | not provided [RCV003545681] | uncertain significance | 19 | 15239075 | 15239075 | Human | | name |
| 405067697 | CV2875548 | single nucleotide variant | NM_001379291.1(BRD4):c.3056C>A (p.Pro1019His) | not provided [RCV003548340] | uncertain significance | 19 | 15243013 | 15243013 | Human | | name |
| 405225323 | CV2882001 | single nucleotide variant | NM_001379291.1(BRD4):c.3473G>A (p.Gly1158Glu) | not provided [RCV003554556] | uncertain significance | 19 | 15239495 | 15239495 | Human | | name |
| 405216581 | CV2897155 | single nucleotide variant | NM_001379291.1(BRD4):c.3392C>T (p.Pro1131Leu) | not provided [RCV003567859] | uncertain significance | 19 | 15239712 | 15239712 | Human | | name |
| 402472652 | CV2908644 | single nucleotide variant | NM_001379291.1(BRD4):c.3175C>T (p.Leu1059Phe) | not provided [RCV003570835] | uncertain significance | 19 | 15240017 | 15240017 | Human | | name |
| 402473291 | CV2908754 | single nucleotide variant | NM_001379291.1(BRD4):c.3179G>A (p.Arg1060His) | not provided [RCV003570899] | uncertain significance | 19 | 15240013 | 15240013 | Human | | name |
| 402471866 | CV2912064 | single nucleotide variant | NM_001379291.1(BRD4):c.3230A>G (p.Gln1077Arg) | not provided [RCV003570666] | uncertain significance | 19 | 15239962 | 15239962 | Human | | name |
| 405153465 | CV2949192 | single nucleotide variant | NM_001379291.1(BRD4):c.3673G>A (p.Glu1225Lys) | not provided [RCV003674090] | uncertain significance | 19 | 15239168 | 15239168 | Human | | name |
| 405130786 | CV2953719 | single nucleotide variant | NM_001379291.1(BRD4):c.3501G>C (p.Gln1167His) | not provided [RCV003672388] | uncertain significance | 19 | 15239467 | 15239467 | Human | | name |
| 405121161 | CV2953948 | single nucleotide variant | NM_001379291.1(BRD4):c.3736G>A (p.Glu1246Lys) | not provided [RCV003667462] | uncertain significance | 19 | 15239105 | 15239105 | Human | | name |
| 405150712 | CV2957022 | single nucleotide variant | NM_001379291.1(BRD4):c.3155A>G (p.Asp1052Gly) | not provided [RCV003670038] | uncertain significance | 19 | 15242914 | 15242914 | Human | | name |
| 405187505 | CV2964210 | single nucleotide variant | NM_001379291.1(BRD4):c.3167C>T (p.Thr1056Ile) | not provided [RCV003676892] | uncertain significance | 19 | 15242902 | 15242902 | Human | | name |
| 405198669 | CV2973173 | single nucleotide variant | NM_001379291.1(BRD4):c.3232A>G (p.Ser1078Gly) | not provided [RCV003677960] | uncertain significance | 19 | 15239960 | 15239960 | Human | | name |
| 402513520 | CV2991459 | single nucleotide variant | NM_001379291.1(BRD4):c.3587T>C (p.Ile1196Thr) | not provided [RCV003689745] | uncertain significance | 19 | 15239254 | 15239254 | Human | | name |
| 404989635 | CV2998711 | single nucleotide variant | NM_001379291.1(BRD4):c.3817C>T (p.Arg1273Trp) | not provided [RCV003692163] | uncertain significance | 19 | 15238946 | 15238946 | Human | | name |
| 404999131 | CV3008966 | single nucleotide variant | NM_001379291.1(BRD4):c.3032C>T (p.Pro1011Leu) | not provided [RCV003692999] | uncertain significance | 19 | 15243037 | 15243037 | Human | | name |
| 405063256 | CV3020628 | single nucleotide variant | NM_001379291.1(BRD4):c.3844C>T (p.Arg1282Cys) | not provided [RCV003697841] | uncertain significance | 19 | 15238919 | 15238919 | Human | | name |
| 405203192 | CV3036286 | single nucleotide variant | NM_001379291.1(BRD4):c.3925A>T (p.Thr1309Ser) | not provided [RCV003707581] | uncertain significance | 19 | 15238838 | 15238838 | Human | | name |
| 405234935 | CV3040742 | single nucleotide variant | NM_001379291.1(BRD4):c.3509C>G (p.Pro1170Arg) | not provided [RCV003712168] | uncertain significance | 19 | 15239459 | 15239459 | Human | | name |
| 402508870 | CV3042312 | single nucleotide variant | NM_001379291.1(BRD4):c.3947A>T (p.Gln1316Leu) | not provided [RCV003715486] | uncertain significance | 19 | 15238816 | 15238816 | Human | | name |
| 405175625 | CV3049215 | single nucleotide variant | NM_001379291.1(BRD4):c.3089C>A (p.Pro1030Gln) | not provided [RCV003728253] | uncertain significance | 19 | 15242980 | 15242980 | Human | | name |
| 405173832 | CV3052503 | single nucleotide variant | NM_001379291.1(BRD4):c.3361C>T (p.Arg1121Cys) | not provided [RCV003728139] | uncertain significance | 19 | 15239743 | 15239743 | Human | | name |
| 405174433 | CV3052606 | single nucleotide variant | NM_001379291.1(BRD4):c.4066A>G (p.Ile1356Val) | not provided [RCV003728216] | uncertain significance | 19 | 15238400 | 15238400 | Human | | name |
| 405183748 | CV3057847 | single nucleotide variant | NM_001379291.1(BRD4):c.3289C>T (p.Arg1097Cys) | not provided [RCV003729055] | uncertain significance | 19 | 15239815 | 15239815 | Human | | name |
| 405180001 | CV3060517 | single nucleotide variant | NM_001379291.1(BRD4):c.3931C>G (p.Gln1311Glu) | not provided [RCV003728683] | uncertain significance | 19 | 15238832 | 15238832 | Human | | name |
| 405189244 | CV3065207 | single nucleotide variant | NM_001379291.1(BRD4):c.3173A>G (p.His1058Arg) | not provided [RCV003729564] | uncertain significance | 19 | 15240019 | 15240019 | Human | | name |
| 405227466 | CV3069622 | single nucleotide variant | NM_001379291.1(BRD4):c.3841C>T (p.Arg1281Trp) | not provided [RCV003734300] | uncertain significance | 19 | 15238922 | 15238922 | Human | | name |
| 405130348 | CV3115001 | single nucleotide variant | NM_001379291.1(BRD4):c.3056C>T (p.Pro1019Leu) | not provided [RCV003815846] | uncertain significance | 19 | 15243013 | 15243013 | Human | | name |
| 405205637 | CV3117022 | single nucleotide variant | NM_001379291.1(BRD4):c.3367G>A (p.Glu1123Lys) | not provided [RCV003822506] | uncertain significance | 19 | 15239737 | 15239737 | Human | | name |
| 405204831 | CV3144155 | single nucleotide variant | NM_001379291.1(BRD4):c.3647C>T (p.Thr1216Ile) | not provided [RCV003844945] | uncertain significance | 19 | 15239194 | 15239194 | Human | | name |
| 405187174 | CV3149136 | single nucleotide variant | NM_001379291.1(BRD4):c.3089C>T (p.Pro1030Leu) | not provided [RCV003843062] | uncertain significance | 19 | 15242980 | 15242980 | Human | | name |
| 402509480 | CV3182171 | single nucleotide variant | NM_001379291.1(BRD4):c.3404A>G (p.Lys1135Arg) | not provided [RCV003878825] | uncertain significance | 19 | 15239700 | 15239700 | Human | | name |
| 407457573 | CV3416193 | single nucleotide variant | NM_001379291.1(BRD4):c.3780G>A (p.Met1260Ile) | not provided [RCV004599071] | uncertain significance | 19 | 15239061 | 15239061 | Human | | name |
| 408381735 | CV3526584 | single nucleotide variant | NM_001379291.1(BRD4):c.3517G>C (p.Gly1173Arg) | not provided [RCV004771897] | uncertain significance | 19 | 15239451 | 15239451 | Human | | name |
| 596947840 | CV3547426 | single nucleotide variant | NM_001379291.1(BRD4):c.3062A>C (p.His1021Pro) | not provided [RCV004811730] | likely benign | 19 | 15243007 | 15243007 | Human | | name |
| 596946417 | CV3548237 | single nucleotide variant | NM_001379291.1(BRD4):c.3803C>T (p.Ala1268Val) | not provided [RCV004810062] | likely benign | 19 | 15238960 | 15238960 | Human | | name |
| 596946452 | CV3548272 | single nucleotide variant | NM_001379291.1(BRD4):c.3785G>A (p.Ser1262Asn) | not provided [RCV004810097] | likely benign | 19 | 15238978 | 15238978 | Human | | name |
| 597651123 | CV3551933 | single nucleotide variant | NM_001379291.1(BRD4):c.3694C>T (p.Arg1232Trp) | not provided [RCV004820646] | uncertain significance | 19 | 15239147 | 15239147 | Human | | name |
| 597963986 | CV3754248 | single nucleotide variant | NM_001379291.1(BRD4):c.3460C>T (p.Pro1154Ser) | not provided [RCV005082355] | uncertain significance | 19 | 15239508 | 15239508 | Human | | name |
| 597838873 | CV3758164 | single nucleotide variant | NM_001379291.1(BRD4):c.3008A>G (p.Gln1003Arg) | not provided [RCV005085998] | uncertain significance | 19 | 15243061 | 15243061 | Human | | name |
| 597921860 | CV3774987 | single nucleotide variant | NM_001379291.1(BRD4):c.3140G>A (p.Arg1047Gln) | not provided [RCV005115333] | uncertain significance | 19 | 15242929 | 15242929 | Human | | name |
| 597942504 | CV3779930 | single nucleotide variant | NM_001379291.1(BRD4):c.3772G>C (p.Glu1258Gln) | not provided [RCV005118939] | uncertain significance | 19 | 15239069 | 15239069 | Human | | name |
| 597935094 | CV3793696 | single nucleotide variant | NM_001379291.1(BRD4):c.3832G>A (p.Glu1278Lys) | not provided [RCV005132352] | uncertain significance | 19 | 15238931 | 15238931 | Human | | name |
| 597960482 | CV3794664 | single nucleotide variant | NM_001379291.1(BRD4):c.3209C>T (p.Ser1070Phe) | not provided [RCV005138569] | uncertain significance | 19 | 15239983 | 15239983 | Human | | name |
| 597958720 | CV3797321 | single nucleotide variant | NM_001379291.1(BRD4):c.3575A>G (p.Lys1192Arg) | not provided [RCV005138008] | uncertain significance | 19 | 15239393 | 15239393 | Human | | name |
| 597962321 | CV3809139 | single nucleotide variant | NM_001379291.1(BRD4):c.3016A>C (p.Thr1006Pro) | not provided [RCV005164041] | uncertain significance | 19 | 15243053 | 15243053 | Human | | name |
| 597952924 | CV3815867 | single nucleotide variant | NM_001379291.1(BRD4):c.3829G>A (p.Glu1277Lys) | not provided [RCV005161620] | uncertain significance | 19 | 15238934 | 15238934 | Human | | name |
| 597948319 | CV3818286 | single nucleotide variant | NM_001379291.1(BRD4):c.3433C>T (p.His1145Tyr) | not provided [RCV005160547] | uncertain significance | 19 | 15239671 | 15239671 | Human | | name |
| 597963671 | CV3830262 | single nucleotide variant | NM_001379291.1(BRD4):c.3923C>T (p.Ala1308Val) | not provided [RCV005164402] | uncertain significance | 19 | 15238840 | 15238840 | Human | | name |
| 597914260 | CV3833907 | single nucleotide variant | NM_001379291.1(BRD4):c.3290G>C (p.Arg1097Pro) | not provided [RCV005183266] | uncertain significance | 19 | 15239814 | 15239814 | Human | | name |
| 597938198 | CV3852770 | single nucleotide variant | NM_001379291.1(BRD4):c.3047G>T (p.Gly1016Val) | not provided [RCV005187170] | uncertain significance | 19 | 15243022 | 15243022 | Human | | name |
| 597879866 | CV3857032 | single nucleotide variant | NM_001379291.1(BRD4):c.3704A>T (p.Glu1235Val) | not provided [RCV005198832] | uncertain significance | 19 | 15239137 | 15239137 | Human | | name |
| 597866825 | CV3857835 | single nucleotide variant | NM_001379291.1(BRD4):c.3415A>G (p.Ser1139Gly) | not provided [RCV005196783] | uncertain significance | 19 | 15239689 | 15239689 | Human | | name |
| 598126379 | CV3881889 | single nucleotide variant | NM_001379291.1(BRD4):c.3904G>T (p.Ala1302Ser) | not provided [RCV005233441] | uncertain significance | 19 | 15238859 | 15238859 | Human | | name |
| 617153039 | CV4021013 | single nucleotide variant | NM_001379291.1(BRD4):c.3801T>A (p.Asp1267Glu) | not provided [RCV005428766] | likely benign | 19 | 15238962 | 15238962 | Human | | name |
| 15192936 | CV704813 | single nucleotide variant | NM_001379291.1(BRD4):c.3810G>C (p.Glu1270Asp) | BRD4-related disorder [RCV003915866]|not provided [RCV000955222] | benign|likely benign | 19 | 15238953 | 15238953 | Human | 1 | name , trait , alternate_id |
| 15201521 | CV727970 | single nucleotide variant | NM_001379291.1(BRD4):c.3978G>T (p.Glu1326Asp) | BRD4-related disorder [RCV004754611]|not provided [RCV000891215] | benign | 19 | 15238785 | 15238785 | Human | 1 | name , trait , alternate_id |
| 15177167 | CV772500 | single nucleotide variant | NM_001379291.1(BRD4):c.3328G>T (p.Val1110Leu) | not provided [RCV000929091] | likely benign | 19 | 15239776 | 15239776 | Human | | name |
| 156158994 | CV2140636 | microsatellite | NM_001379291.1(BRD4):c.643CCT[2] (p.Pro217del) | not provided [RCV003004991] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 15265552 | 15265554 | Human | | name |
| 598218149 | CV3891625 | deletion | NM_001379291.1(BRD4):c.394_395del (p.Met132fs) | Cornelia de Lange syndrome 6 [RCV005252467] | likely pathogenic | 19 | 15268933 | 15268934 | Human | 1 | name |
| 21070260 | CV789799 | deletion | NM_001379291.1(BRD4):c.231_233del (p.His77del) | Short stature [RCV000986204] | likely pathogenic | 19 | 15272867 | 15272869 | Human | 2 | name |
| 26921893 | CV847409 | deletion | NM_001379291.1(BRD4):c.358_367del (p.Trp120fs) | not provided [RCV001050977] | pathogenic | 19 | 15268961 | 15268970 | Human | | name |
| 39456467 | CV965560 | deletion | NM_001379291.1(BRD4):c.710_711del (p.Pro237fs) | Cornelia de Lange syndrome 6 [RCV004799341] | likely pathogenic | 19 | 15265492 | 15265493 | Human | 1 | name |
| 156120239 | CV2077890 | microsatellite | NM_001379291.1(BRD4):c.2217TCA[1] (p.His743del) | not provided [RCV002889532] | uncertain significance | 19 | 15244590 | 15244592 | Human | | name |
| 156240574 | CV2085956 | microsatellite | NM_001379291.1(BRD4):c.1510GAG[2] (p.Glu506del) | not provided [RCV002876581] | uncertain significance | 19 | 15256997 | 15256999 | Human | | name |
| 156109908 | CV2092822 | microsatellite | NM_001379291.1(BRD4):c.1733GCA[1] (p.Ser579del) | not provided [RCV002913734] | uncertain significance | 19 | 15256077 | 15256079 | Human | | name |
| 156440671 | CV1943732 | microsatellite | NM_001379291.1(BRD4):c.3322GTG[2] (p.Val1110del) | not provided [RCV003110708] | likely benign | 19 | 15239774 | 15239776 | Human | | name |
| 156019085 | CV2121583 | microsatellite | NM_001379291.1(BRD4):c.3334GAG[1] (p.Glu1113del) | BRD4-related disorder [RCV003943627]|not provided [RCV002948684] | benign | 19 | 15239765 | 15239767 | Human | | name , trait , alternate_id |
| 401941714 | CV2839408 | indel | NM_001379291.1(BRD4):c.1224delinsCA (p.Glu408fs) | Cornelia de Lange syndrome 6 [RCV003449003] | pathogenic | 19 | 15263537 | 15263537 | Human | | name |
| 405007756 | CV3006554 | microsatellite | NM_001379291.1(BRD4):c.3851AGC[5] (p.Gln1289del) | not provided [RCV003693727] | uncertain significance | 19 | 15238895 | 15238897 | Human | | name |
| 597832830 | CV3762142 | duplication | NM_001379291.1(BRD4):c.1698_1701dup (p.Pro568fs) | Cornelia de Lange syndrome 6 [RCV005087560] | likely pathogenic | 19 | 15256113 | 15256114 | Human | 1 | name |
| 153348991 | CV1693080 | duplication | NM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs) | Syndromic intellectual disability [RCV002275374] | likely pathogenic | 19 | 15239168 | 15239169 | Human | 1 | name |
| 155643082 | CV1706522 | duplication | NM_001379291.1(BRD4):c.3693_3709dup (p.Arg1237fs) | Intellectual disability [RCV002287595] | pathogenic | 19 | 15239131 | 15239132 | Human | 2 | name |
| 156376667 | CV1917723 | deletion | NM_001379291.1(BRD4):c.2931_2933del (p.Pro980del) | not provided [RCV002603639] | likely benign | 19 | 15243136 | 15243138 | Human | | name |
| 156440198 | CV1946560 | deletion | NM_001379291.1(BRD4):c.2812_2814del (p.Val938del) | not provided [RCV003110229] | uncertain significance | 19 | 15243255 | 15243257 | Human | | name |
| 156027574 | CV2156165 | deletion | NM_001379291.1(BRD4):c.3540_3541del (p.Lys1181fs) | not provided [RCV003018531] | pathogenic | 19 | 15239427 | 15239428 | Human | | name |
| 401941715 | CV2839409 | insertion | NM_001379291.1(BRD4):c.2753_2754insT (p.Pro919fs) | Cornelia de Lange syndrome 6 [RCV003449004] | pathogenic | 19 | 15243315 | 15243316 | Human | 1 | name |
| 405076182 | CV3081160 | deletion | NM_001379291.1(BRD4):c.3312_3319del (p.Gln1105fs) | Cornelia de Lange syndrome 6 [RCV003764456] | likely pathogenic | 19 | 15239785 | 15239792 | Human | 1 | name |
| 597879493 | CV3810138 | microsatellite | NM_001379291.1(BRD4):c.2940CCAGCC[1] (p.981QP[1]) | not provided [RCV005149601] | uncertain significance | 19 | 15243118 | 15243123 | Human | | name |
| 150554138 | CV1296528 | indel | NM_001379291.1(BRD4):c.1526_1527delinsTA (p.Gln509Leu) | not provided [RCV001770765] | uncertain significance | 19 | 15256988 | 15256989 | Human | | name |
| 156237126 | CV2105207 | microsatellite | NM_001379291.1(BRD4):c.2900AGC[1] (p.Gln968_Gln969del) | not provided [RCV002919161] | uncertain significance | 19 | 15243161 | 15243166 | Human | | name |
| 597637356 | CV3637011 | indel | NM_001379291.1(BRD4):c.1393_1420delinsCAA (p.Val465fs) | Inborn genetic diseases [RCV004970154] | pathogenic | 19 | 15257095 | 15257122 | Human | | name |
| 597911683 | CV3826783 | deletion | NM_001379291.1(BRD4):c.889_897del (p.Pro297_Thr299del) | not provided [RCV005182900] | uncertain significance | 19 | 15264719 | 15264727 | Human | | name |
| 156044885 | CV1927052 | deletion | NM_001379291.1(BRD4):c.3869_3892del (p.1282RQEQQQQQ[1]) | not provided [RCV002637721] | uncertain significance | 19 | 15238871 | 15238894 | Human | | name |
| 155803907 | CV1858475 | deletion | NM_001379291.1(BRD4):c.1420_1440del (p.Pro474_Val480del) | not provided [RCV002462785] | uncertain significance | 19 | 15257075 | 15257095 | Human | | name |
| 156028454 | CV2049057 | deletion | NM_001379291.1(BRD4):c.2800_2808del (p.Gln934_Gln936del) | De Lange syndrome [RCV002795945]|not provided [RCV005098516] | uncertain significance | 19 | 15243261 | 15243269 | Human | 1 | name |
| 156238911 | CV2115771 | deletion | NM_001379291.1(BRD4):c.2919_2969del (p.Gln973_Gln989del) | not provided [RCV002919223] | uncertain significance | 19 | 15243100 | 15243150 | Human | | name |
| 405215619 | CV2981697 | deletion | NM_001379291.1(BRD4):c.2307_2354del (p.Gln773_Gln788del) | not provided [RCV003709277] | uncertain significance | 19 | 15244458 | 15244505 | Human | | name |
| 597852460 | CV3821201 | deletion | NM_001379291.1(BRD4):c.2945_2962del (p.Pro982_Gln987del) | not provided [RCV005173859] | uncertain significance | 19 | 15243107 | 15243124 | Human | | name |
| 597860147 | CV3826003 | deletion | NM_001379291.1(BRD4):c.2909_2917del (p.Leu970_Gln972del) | not provided [RCV005174901] | uncertain significance | 19 | 15243152 | 15243160 | Human | | name |
| 597883484 | CV3834780 | microsatellite | NM_001379291.1(BRD4):c.2206AAG[3] (p.Lys737_His738insLys) | not provided [RCV005178503] | uncertain significance | 19 | 15244709 | 15244710 | Human | | name |
| 597965051 | CV3830676 | deletion | NM_001379291.1(BRD4):c.3858_3878del (p.Arg1290_Gln1296del) | not provided [RCV005164816] | uncertain significance | 19 | 15238885 | 15238905 | Human | | name |
| 597859511 | CV3832880 | deletion | NM_001379291.1(BRD4):c.3885_3899del (p.Gln1296_Gln1300del) | not provided [RCV005174793] | uncertain significance | 19 | 15238864 | 15238878 | Human | | name |
| 617154005 | CV4022168 | deletion | NM_001379291.1(BRD4):c.3869_3889del (p.Arg1290_Gln1296del) | not provided [RCV005429524] | uncertain significance | 19 | 15238874 | 15238894 | Human | | name |
| 405213072 | CV2878789 | microsatellite | NM_001379291.1(BRD4):c.3851AGC[7] (p.Gln1289_Arg1290insGln) | not provided [RCV003552844] | uncertain significance | 19 | 15238894 | 15238895 | Human | | name |
| 156306333 | CV2115619 | microsatellite | NM_001379291.1(BRD4):c.2924CACCACCCC[1] (p.Pro978_Pro980del) | not provided [RCV002922836] | benign | 19 | 15243128 | 15243136 | Human | | name |
| 156309221 | CV2123309 | duplication | NM_001379291.1(BRD4):c.3915_3917dup (p.Ala1308_Thr1309insAla) | not provided [RCV002962520] | uncertain significance | 19 | 15238845 | 15238846 | Human | | name |
| 156258524 | CV2142331 | microsatellite | NM_001379291.1(BRD4):c.2897TGCAGCAGCAGC[1] (p.Leu970_Gln973del) | not provided [RCV002988383] | uncertain significance | 19 | 15243149 | 15243160 | Human | | name |
| 402486803 | CV3034004 | microsatellite | NM_001379291.1(BRD4):c.2924AGC[3] (p.Pro974_Pro975insGlnGlnGln) | not provided [RCV003713375] | uncertain significance | 19 | 15243145 | 15243146 | Human | | name |
| 405126140 | CV3043589 | microsatellite | NM_001379291.1(BRD4):c.2940CCAGCC[3] (p.Pro984_Pro985insGlnPro) | not provided [RCV003724322] | uncertain significance | 19 | 15243117 | 15243118 | Human | | name |
| 597976397 | CV3829645 | duplication | NM_001379291.1(BRD4):c.3850_3855dup (p.Gln1285_Gln1286insGluGln) | not provided [RCV005169912] | uncertain significance | 19 | 15238907 | 15238908 | Human | | name |
| 597655448 | CV3552234 | microsatellite | NM_001379291.1(BRD4):c.3889CAGCAA[3] (p.Gln1300_Ala1301insGlnGln) | Cornelia de Lange syndrome 6 [RCV004821092] | uncertain significance | 19 | 15238862 | 15238863 | Human | | name |
| 150552866 | CV1295533 | indel | NM_001379291.1(BRD4):c.1917_1923delinsCCTGAAGAATTCCAA (p.Arg640fs) | not provided [RCV001768465] | uncertain significance | 19 | 15255421 | 15255427 | Human | | name |
| 408383898 | CV3506057 | indel | NM_001379291.1(BRD4):c.2304_2315delinsTGT (p.Pro769_Gln772delinsVal) | BRD4-related disorder [RCV004731381] | uncertain significance | 19 | 15244497 | 15244508 | Human | | name , trait , alternate_id |
| 156092746 | CV1963468 | microsatellite | NM_001379291.1(BRD4):c.2924CACCACCCC[3] (p.Pro980_Gln981insProProPro) | not provided [RCV002570284] | uncertain significance | 19 | 15243127 | 15243128 | Human | | name |
| 156256056 | CV2185277 | duplication | NM_001379291.1(BRD4):c.2909_2923dup (p.Pro974_Pro975insLeuGlnGlnGlnPro) | BRD4-related disorder [RCV003953825]|not provided [RCV003043957] | benign|likely benign | 19 | 15243145 | 15243146 | Human | 1 | name , trait , alternate_id |
| 402467637 | CV3174141 | duplication | NM_001379291.1(BRD4):c.2874_2891dup (p.Pro964_Ser965insProProProProHisPro) | not provided [RCV003873424] | uncertain significance | 19 | 15243177 | 15243178 | Human | | name |
| 156124897 | CV2185543 | duplication | NM_001379291.1(BRD4):c.2274_2294dup (p.Pro768_Pro769insGlnGlnProProProProPro) | not provided [RCV003055611] | uncertain significance | 19 | 15244517 | 15244518 | Human | | name |
| 155940137 | CV2054894 | duplication | NM_001379291.1(BRD4):c.3855_3878dup (p.Gln1297_Gln1298insArgGlnGluGlnGlnGlnGlnGln) | not provided [RCV002815638] | uncertain significance | 19 | 15238884 | 15238885 | Human | | name |