| 9682564 | CV170178 | single nucleotide variant | NM_018486.3(HDAC8):c.-5G>T | Cornelia de Lange syndrome 5 [RCV000146086] | uncertain significance | X | 72572766 | 72572766 | Human | 1 | name |
| 13532327 | CV512749 | deletion | NM_018486.2(HDAC8):c.911delG | Inborn genetic diseases [RCV000624093] | pathogenic | X | 72462098 | 72462098 | Human | 1 | name |
| 127251475 | CV1065499 | duplication | NM_018486.3(HDAC8):c.164+2dup | Cornelia de Lange syndrome 5 [RCV001385501] | pathogenic | X | 72572054 | 72572055 | Human | 1 | name |
| 151796914 | CV1512756 | deletion | NM_018486.3(HDAC8):c.164+4del | Cornelia de Lange syndrome 5 [RCV001866765] | uncertain significance | X | 72572053 | 72572053 | Human | 1 | name |
| 152150241 | CV1531276 | single nucleotide variant | NM_018486.3(HDAC8):c.111+7G>A | Cornelia de Lange syndrome 5 [RCV002201852]|HDAC8-related disorder [RCV003973334] | likely benign | X | 72572644 | 72572644 | Human | 1 | name , trait , alternate_id |
| 152143494 | CV1557009 | single nucleotide variant | NM_018486.3(HDAC8):c.738-4A>G | Cornelia de Lange syndrome 5 [RCV002200885] | likely benign | X | 72464735 | 72464735 | Human | 1 | name |
| 156064195 | CV1888698 | single nucleotide variant | NM_018486.3(HDAC8):c.737+6G>A | Cornelia de Lange syndrome 5 [RCV003079328] | uncertain significance | X | 72488927 | 72488927 | Human | 1 | name |
| 156020198 | CV2046996 | single nucleotide variant | NM_018486.3(HDAC8):c.296-6C>T | Cornelia de Lange syndrome 5 [RCV002780611] | likely benign | X | 72568036 | 72568036 | Human | 1 | name |
| 156319742 | CV2071294 | single nucleotide variant | NM_018486.3(HDAC8):c.550+7C>T | Cornelia de Lange syndrome 5 [RCV002834615] | likely benign | X | 72495149 | 72495149 | Human | 1 | name |
| 156125829 | CV2072733 | single nucleotide variant | NM_018486.3(HDAC8):c.550+9T>G | Cornelia de Lange syndrome 5 [RCV002825480] | likely benign | X | 72495147 | 72495147 | Human | 1 | name |
| 11051299 | CV225805 | single nucleotide variant | NM_018486.3(HDAC8):c.737+1G>A | Cornelia de Lange syndrome 5 [RCV000209849] | likely pathogenic | X | 72488932 | 72488932 | Human | 1 | name |
| 243049484 | CV2416860 | deletion | NM_018486.3(HDAC8):c.437+9del | not specified [RCV003151532] | uncertain significance | X | 72567880 | 72567880 | Human | | name |
| 405012900 | CV2948027 | single nucleotide variant | NM_018486.3(HDAC8):c.111+6G>A | Cornelia de Lange syndrome 5 [RCV003649520] | conflicting interpretations of pathogenicity|uncertain significance | X | 72572645 | 72572645 | Human | 1 | name |
| 405021393 | CV2984884 | single nucleotide variant | NM_018486.3(HDAC8):c.738-2A>G | Cornelia de Lange syndrome 5 [RCV003650913]|not provided [RCV004697307] | pathogenic|likely pathogenic | X | 72464733 | 72464733 | Human | 1 | name |
| 405032439 | CV3003778 | single nucleotide variant | NM_018486.3(HDAC8):c.164+9T>C | Cornelia de Lange syndrome 5 [RCV003652409] | likely benign | X | 72572048 | 72572048 | Human | 1 | name |
| 405020991 | CV3059803 | single nucleotide variant | NM_018486.3(HDAC8):c.628+7G>A | Cornelia de Lange syndrome 5 [RCV003650345] | likely benign | X | 72490922 | 72490922 | Human | 1 | name |
| 405026038 | CV3067761 | single nucleotide variant | NM_018486.3(HDAC8):c.911-5G>C | Cornelia de Lange syndrome 5 [RCV003651379] | benign | X | 72462103 | 72462103 | Human | 1 | name |
| 405694417 | CV3227153 | single nucleotide variant | NM_018486.3(HDAC8):c.111+1G>C | Cornelia de Lange syndrome 5 [RCV003992866] | likely pathogenic | X | 72572650 | 72572650 | Human | 1 | name |
| 405867904 | CV3396610 | single nucleotide variant | NM_018486.3(HDAC8):c.550+1G>T | Cornelia de Lange syndrome 5 [RCV004560481] | pathogenic | X | 72495155 | 72495155 | Human | 1 | name |
| 597833848 | CV3735633 | single nucleotide variant | NM_018486.3(HDAC8):c.910+1G>A | not provided [RCV005063495] | pathogenic | X | 72464558 | 72464558 | Human | | name |
| 597959814 | CV3843466 | single nucleotide variant | NM_018486.3(HDAC8):c.628+7G>T | Cornelia de Lange syndrome 5 [RCV005192502] | likely benign | X | 72490922 | 72490922 | Human | 1 | name |
| 597936392 | CV3862488 | single nucleotide variant | NM_018486.3(HDAC8):c.911-3C>T | Cornelia de Lange syndrome 5 [RCV005207760] | uncertain significance | X | 72462101 | 72462101 | Human | 1 | name |
| 616940206 | CV4014715 | single nucleotide variant | NM_018486.3(HDAC8):c.910+1G>T | not provided [RCV005414209] | pathogenic | X | 72464558 | 72464558 | Human | | name |
| 616938591 | CV4015058 | single nucleotide variant | NM_018486.3(HDAC8):c.628+5G>T | Cornelia de Lange syndrome 5 [RCV005412075] | likely pathogenic | X | 72490924 | 72490924 | Human | 1 | name |
| 12894209 | CV411478 | single nucleotide variant | NM_018486.3(HDAC8):c.165-2A>G | not provided [RCV000481940] | pathogenic | X | 72568886 | 72568886 | Human | | name |
| 13215070 | CV430910 | single nucleotide variant | NM_018486.3(HDAC8):c.628+5G>C | not specified [RCV000501973] | uncertain significance | X | 72490924 | 72490924 | Human | | name |
| 13485191 | CV446760 | deletion | NM_018486.3(HDAC8):c.738-1del | not provided [RCV000522537] | pathogenic | X | 72464732 | 72464732 | Human | | name |
| 8603148 | CV45845 | single nucleotide variant | NM_018486.3(HDAC8):c.164+5G>A | Cornelia de Lange syndrome 5 [RCV000030813]|HDAC8-related disorder [RCV003415747] | pathogenic | X | 72572052 | 72572052 | Human | 1 | name , trait , alternate_id |
| 13819140 | CV575447 | single nucleotide variant | NM_018486.3(HDAC8):c.737+3A>G | Cornelia de Lange syndrome 5 [RCV000694152] | uncertain significance | X | 72488930 | 72488930 | Human | 1 | name |
| 21073747 | CV792499 | single nucleotide variant | NM_018486.3(HDAC8):c.738-1G>A | Cornelia de Lange syndrome 5 [RCV000990868]|not provided [RCV001702580] | pathogenic|likely pathogenic | X | 72464732 | 72464732 | Human | 1 | name |
| 21075123 | CV798394 | single nucleotide variant | NM_018486.3(HDAC8):c.628+5G>A | not provided [RCV000995957] | uncertain significance | X | 72490924 | 72490924 | Human | | name |
| 26892503 | CV852985 | single nucleotide variant | NM_018486.3(HDAC8):c.295+2T>G | Cornelia de Lange syndrome 5 [RCV001046979] | pathogenic | X | 72568752 | 72568752 | Human | 1 | name |
| 150335081 | CV1173601 | duplication | NM_018486.3(HDAC8):c.112-29dup | Cornelia de Lange syndrome 5 [RCV002071950]|Inborn genetic diseases [RCV004017846]|not provided [RCV001540393] | benign|likely benign | X | 72572125 | 72572126 | Human | 2 | name |
| 150407775 | CV1192558 | single nucleotide variant | NM_018486.3(HDAC8):c.111+34T>G | not provided [RCV001565112] | likely benign | X | 72572617 | 72572617 | Human | | name |
| 150474196 | CV1252530 | deletion | NM_018486.3(HDAC8):c.112-17del | Cornelia de Lange syndrome 5 [RCV003653486]|not provided [RCV001671733] | benign | X | 72572126 | 72572126 | Human | 1 | name |
| 150458375 | CV1259035 | single nucleotide variant | NM_018486.3(HDAC8):c.111+46T>G | not provided [RCV001681754] | benign | X | 72572605 | 72572605 | Human | | name |
| 151888646 | CV1517203 | single nucleotide variant | NM_018486.3(HDAC8):c.1005+2T>C | Cornelia de Lange syndrome 5 [RCV002038444] | likely pathogenic | X | 72462002 | 72462002 | Human | 1 | name |
| 152118092 | CV1522270 | single nucleotide variant | NM_018486.3(HDAC8):c.910+20A>G | Cornelia de Lange syndrome 5 [RCV002081170] | likely benign | X | 72464539 | 72464539 | Human | 1 | name |
| 152151479 | CV1530403 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+9C>T | Cornelia de Lange syndrome 5 [RCV002102296] | benign | X | 72351724 | 72351724 | Human | 1 | name |
| 152138741 | CV1562695 | single nucleotide variant | NM_018486.3(HDAC8):c.111+14G>C | Cornelia de Lange syndrome 5 [RCV002100472] | likely benign | X | 72572637 | 72572637 | Human | 1 | name |
| 152026702 | CV1583041 | single nucleotide variant | NM_018486.3(HDAC8):c.910+17G>T | Cornelia de Lange syndrome 5 [RCV002084886] | benign | X | 72464542 | 72464542 | Human | 1 | name |
| 152157159 | CV1586107 | single nucleotide variant | NM_018486.3(HDAC8):c.295+13C>T | Cornelia de Lange syndrome 5 [RCV002140297] | benign | X | 72568741 | 72568741 | Human | 1 | name |
| 152063776 | CV1612148 | single nucleotide variant | NM_018486.3(HDAC8):c.111+20A>C | Cornelia de Lange syndrome 5 [RCV002128681] | benign | X | 72572631 | 72572631 | Human | 1 | name |
| 152045801 | CV1614297 | single nucleotide variant | NM_018486.3(HDAC8):c.438-17A>G | Cornelia de Lange syndrome 5 [RCV002166257] | benign | X | 72495285 | 72495285 | Human | 1 | name |
| 152070456 | CV1628400 | single nucleotide variant | NM_018486.3(HDAC8):c.628+20G>A | Cornelia de Lange syndrome 5 [RCV002169220] | likely benign | X | 72490909 | 72490909 | Human | 1 | name |
| 152171569 | CV1628442 | single nucleotide variant | NM_018486.3(HDAC8):c.629-14C>T | Cornelia de Lange syndrome 5 [RCV002183543] | likely benign | X | 72489055 | 72489055 | Human | 1 | name |
| 152135422 | CV1642292 | single nucleotide variant | NM_018486.3(HDAC8):c.164+19A>T | Cornelia de Lange syndrome 5 [RCV002119637] | benign | X | 72572038 | 72572038 | Human | 1 | name |
| 9682569 | CV170173 | single nucleotide variant | NM_018486.3(HDAC8):c.438-15C>T | Cornelia de Lange syndrome 5 [RCV002055891]|not provided [RCV004713375]|not specified [RCV000146091] | benign | X | 72495283 | 72495283 | Human | 1 | name |
| 156212141 | CV1902504 | single nucleotide variant | NM_018486.3(HDAC8):c.629-11C>G | Cornelia de Lange syndrome 5 [RCV003084640] | likely benign | X | 72489052 | 72489052 | Human | 1 | name |
| 156172044 | CV1930223 | single nucleotide variant | NM_018486.3(HDAC8):c.112-14G>A | Cornelia de Lange syndrome 5 [RCV002624741] | likely benign | X | 72572123 | 72572123 | Human | 1 | name |
| 156435492 | CV1940769 | single nucleotide variant | NM_018486.3(HDAC8):c.165-11G>A | Cornelia de Lange syndrome 5 [RCV003104876] | likely benign | X | 72568895 | 72568895 | Human | 1 | name |
| 156148064 | CV2078778 | single nucleotide variant | NM_018486.3(HDAC8):c.437+13C>G | Cornelia de Lange syndrome 5 [RCV002872224] | likely benign | X | 72567876 | 72567876 | Human | 1 | name |
| 156140418 | CV2082290 | single nucleotide variant | NM_018486.3(HDAC8):c.1005+5G>A | Cornelia de Lange syndrome 5 [RCV002871962] | uncertain significance | X | 72461999 | 72461999 | Human | 1 | name |
| 10405664 | CV213672 | single nucleotide variant | NM_018486.3(HDAC8):c.1006-2A>G | Cornelia de Lange syndrome 5 [RCV000196804] | pathogenic|likely pathogenic | X | 72351840 | 72351840 | Human | 1 | name |
| 156250422 | CV2174562 | single nucleotide variant | NM_018486.3(HDAC8):c.112-11G>T | Cornelia de Lange syndrome 5 [RCV003043766] | likely benign | X | 72572120 | 72572120 | Human | 1 | name |
| 401935136 | CV2805426 | single nucleotide variant | NM_018486.3(HDAC8):c.296-13T>G | Cornelia de Lange syndrome 5 [RCV003412557] | uncertain significance | X | 72568043 | 72568043 | Human | 1 | name |
| 405144095 | CV2869529 | single nucleotide variant | NM_018486.3(HDAC8):c.551-17G>A | Cornelia de Lange syndrome 5 [RCV003537770] | likely benign | X | 72491023 | 72491023 | Human | 1 | name |
| 405145320 | CV2881309 | single nucleotide variant | NM_018486.3(HDAC8):c.1006-4A>G | Cornelia de Lange syndrome 5 [RCV003537947] | benign | X | 72351842 | 72351842 | Human | 1 | name |
| 405145705 | CV2888229 | single nucleotide variant | NM_018486.3(HDAC8):c.296-13T>C | Cornelia de Lange syndrome 5 [RCV003537991] | likely benign | X | 72568043 | 72568043 | Human | 1 | name |
| 405084041 | CV2896159 | deletion | NM_018486.3(HDAC8):c.738-17del | Cornelia de Lange syndrome 5 [RCV003535425] | likely benign | X | 72464748 | 72464748 | Human | 1 | name |
| 405146844 | CV2928687 | single nucleotide variant | NM_018486.3(HDAC8):c.111+20A>G | Cornelia de Lange syndrome 5 [RCV003538102] | likely benign | X | 72572631 | 72572631 | Human | 1 | name |
| 405012352 | CV2942821 | single nucleotide variant | NM_018486.3(HDAC8):c.629-18T>C | Cornelia de Lange syndrome 5 [RCV003649464] | likely benign | X | 72489059 | 72489059 | Human | 1 | name |
| 405025056 | CV2995571 | single nucleotide variant | NM_018486.3(HDAC8):c.111+10G>A | Cornelia de Lange syndrome 5 [RCV003651284] | likely benign | X | 72572641 | 72572641 | Human | 1 | name |
| 405035175 | CV3006413 | single nucleotide variant | NM_018486.3(HDAC8):c.911-13T>C | Cornelia de Lange syndrome 5 [RCV003652671] | likely benign | X | 72462111 | 72462111 | Human | 1 | name |
| 405037940 | CV3076417 | single nucleotide variant | NM_018486.3(HDAC8):c.1112-5T>G | Cornelia de Lange syndrome 5 [RCV003652947] | likely benign | X | 72330081 | 72330081 | Human | 1 | name |
| 402477390 | CV3173961 | single nucleotide variant | NM_018486.3(HDAC8):c.629-16C>T | Cornelia de Lange syndrome 5 [RCV003875499] | likely benign | X | 72489057 | 72489057 | Human | 1 | name |
| 597953082 | CV3776348 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+1G>A | Cornelia de Lange syndrome 5 [RCV005121476]|Inborn genetic diseases [RCV005353406] | likely pathogenic|uncertain significance | X | 72351732 | 72351732 | Human | 2 | name |
| 597895360 | CV3781880 | single nucleotide variant | NM_018486.3(HDAC8):c.1006-9T>C | Cornelia de Lange syndrome 5 [RCV005126308] | likely benign | X | 72351847 | 72351847 | Human | 1 | name |
| 597962411 | CV3791439 | single nucleotide variant | NM_018486.3(HDAC8):c.437+14C>T | Cornelia de Lange syndrome 5 [RCV005139193] | likely benign | X | 72567875 | 72567875 | Human | 1 | name |
| 597950317 | CV3818962 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+6C>T | Cornelia de Lange syndrome 5 [RCV005161032] | uncertain significance | X | 72351727 | 72351727 | Human | 1 | name |
| 597843201 | CV3827272 | single nucleotide variant | NM_018486.3(HDAC8):c.629-19G>A | Cornelia de Lange syndrome 5 [RCV005172543] | likely benign | X | 72489060 | 72489060 | Human | 1 | name |
| 597871547 | CV3835706 | single nucleotide variant | NM_018486.3(HDAC8):c.112-17T>C | Cornelia de Lange syndrome 5 [RCV005176697] | likely benign | X | 72572126 | 72572126 | Human | 1 | name |
| 597922233 | CV3843216 | single nucleotide variant | NM_018486.3(HDAC8):c.296-14A>G | Cornelia de Lange syndrome 5 [RCV005184508] | likely benign | X | 72568044 | 72568044 | Human | 1 | name |
| 597960079 | CV3843547 | single nucleotide variant | NM_018486.3(HDAC8):c.112-14G>T | Cornelia de Lange syndrome 5 [RCV005192584] | likely benign | X | 72572123 | 72572123 | Human | 1 | name |
| 597881083 | CV3857385 | single nucleotide variant | NM_018486.3(HDAC8):c.296-12T>G | Cornelia de Lange syndrome 5 [RCV005199001] | likely benign | X | 72568042 | 72568042 | Human | 1 | name |
| 13207644 | CV423089 | single nucleotide variant | NM_018486.3(HDAC8):c.1112-2A>G | Cornelia de Lange syndrome 5 [RCV000494703] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | X | 72330078 | 72330078 | Human | 1 | name |
| 14727766 | CV671177 | single nucleotide variant | NM_018486.3(HDAC8):c.111+40T>G | not provided [RCV000834471] | benign | X | 72572611 | 72572611 | Human | | name |
| 150335799 | CV1165173 | single nucleotide variant | NM_018486.3(HDAC8):c.165-151G>A | not provided [RCV001530557] | likely benign | X | 72569035 | 72569035 | Human | | name |
| 150421599 | CV1195809 | single nucleotide variant | NM_018486.3(HDAC8):c.551-169C>T | not provided [RCV001570612] | likely benign | X | 72491175 | 72491175 | Human | | name |
| 150407818 | CV1195810 | single nucleotide variant | NM_018486.3(HDAC8):c.165-305A>C | not provided [RCV001572447] | likely benign | X | 72569189 | 72569189 | Human | | name |
| 150441646 | CV1204584 | single nucleotide variant | NM_018486.3(HDAC8):c.1006-70T>C | not provided [RCV001583691] | likely benign | X | 72351908 | 72351908 | Human | | name |
| 150490547 | CV1210217 | single nucleotide variant | NM_018486.3(HDAC8):c.164+186G>C | not provided [RCV001592499] | likely benign | X | 72571871 | 72571871 | Human | | name |
| 150503297 | CV1223431 | single nucleotide variant | NM_018486.3(HDAC8):c.438-329C>A | not provided [RCV001621367] | benign | X | 72495597 | 72495597 | Human | | name |
| 150482598 | CV1261646 | single nucleotide variant | NM_018486.3(HDAC8):c.1112-42A>G | not provided [RCV001686249] | benign | X | 72330118 | 72330118 | Human | | name |
| 152150052 | CV1545503 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+16C>T | Cornelia de Lange syndrome 5 [RCV002121613] | benign | X | 72351717 | 72351717 | Human | 1 | name |
| 156438919 | CV1947838 | deletion | NM_018486.3(HDAC8):c.1111+17del | Cornelia de Lange syndrome 5 [RCV003108868] | likely benign | X | 72351716 | 72351716 | Human | 1 | name |
| 156353713 | CV1974857 | single nucleotide variant | NM_018486.3(HDAC8):c.1112-11C>G | Cornelia de Lange syndrome 5 [RCV002602011] | likely benign | X | 72330087 | 72330087 | Human | 1 | name |
| 401928877 | CV2829307 | single nucleotide variant | NM_018486.3(HDAC8):c.437+105G>T | not provided [RCV003439643] | likely benign | X | 72567784 | 72567784 | Human | | name |
| 405186424 | CV3149065 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+13C>T | Cornelia de Lange syndrome 5 [RCV003842989] | likely benign | X | 72351720 | 72351720 | Human | 1 | name |
| 405282250 | CV3216306 | single nucleotide variant | NM_018486.3(HDAC8):c.437+103G>C | HDAC8-related disorder [RCV003956817] | uncertain significance | X | 72567786 | 72567786 | Human | | name , trait , alternate_id |
| 597875933 | CV3829761 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+20G>T | Cornelia de Lange syndrome 5 [RCV005177469] | likely benign | X | 72351713 | 72351713 | Human | 1 | name |
| 597874864 | CV3846407 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+17G>A | Cornelia de Lange syndrome 5 [RCV005177290] | likely benign | X | 72351716 | 72351716 | Human | 1 | name |
| 14742816 | CV670988 | single nucleotide variant | NM_018486.3(HDAC8):c.165-136A>G | not provided [RCV000841646] | benign | X | 72569020 | 72569020 | Human | | name |
| 15106375 | CV760885 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+10G>T | Cornelia de Lange syndrome 5 [RCV002540896] | benign | X | 72351723 | 72351723 | Human | 1 | name |
| 151351520 | CV1323965 | single nucleotide variant | NM_018486.3(HDAC8):c.738-9969T>C | Cornelia de Lange syndrome 5 [RCV001807875] | uncertain significance | X | 72474700 | 72474700 | Human | 1 | name |
| 152033747 | CV1669035 | single nucleotide variant | NM_018486.3(HDAC8):c.738-8598T>C | not provided [RCV002223378] | uncertain significance | X | 72473329 | 72473329 | Human | | name |
| 152978290 | CV1671486 | single nucleotide variant | NM_018486.3(HDAC8):c.738-1619G>A | Cornelia de Lange syndrome 5 [RCV002227591] | uncertain significance | X | 72466350 | 72466350 | Human | 1 | name |
| 401928865 | CV2829303 | single nucleotide variant | NM_018486.3(HDAC8):c.1112-599T>C | not provided [RCV003439639] | uncertain significance | X | 72330675 | 72330675 | Human | | name |
| 401928868 | CV2829304 | single nucleotide variant | NM_018486.3(HDAC8):c.1112-626C>T | not provided [RCV003439640] | likely benign | X | 72330702 | 72330702 | Human | | name |
| 401928871 | CV2829305 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+131C>A | not provided [RCV003439641] | likely benign | X | 72351602 | 72351602 | Human | | name |
| 401928874 | CV2829306 | single nucleotide variant | NM_018486.3(HDAC8):c.1111+128C>T | not provided [RCV003439642] | likely benign | X | 72351605 | 72351605 | Human | | name |
| 598224282 | CV3894109 | single nucleotide variant | NM_018486.3(HDAC8):c.738-9967T>C | not provided [RCV005257352] | likely benign | X | 72474698 | 72474698 | Human | | name |
| 13832096 | CV582587 | deletion | NM_018486.3(HDAC8):c.738-9981del | not provided [RCV000722779] | uncertain significance | X | 72474712 | 72474712 | Human | | name |
| 616938824 | CV4015850 | deletion | NM_018486.3(HDAC8):c.618_628+1del | Cornelia de Lange syndrome 5 [RCV005414402] | likely pathogenic | X | 72490928 | 72490939 | Human | 1 | name |
| 15040341 | CV682844 | deletion | NM_018486.3(HDAC8):c.1112-4_1116del | Cornelia de Lange syndrome 1 [RCV000856730] | pathogenic | X | 72330072 | 72330080 | Human | 1 | name |
| 9682567 | CV170177 | single nucleotide variant | NM_018486.3(HDAC8):c.24G>A (p.Ala8=) | Cornelia de Lange syndrome 5 [RCV000146089] | uncertain significance | X | 72572738 | 72572738 | Human | 1 | name |
| 405031988 | CV3003467 | single nucleotide variant | NM_018486.3(HDAC8):c.12G>A (p.Pro4=) | Cornelia de Lange syndrome 5 [RCV003652368] | benign | X | 72572750 | 72572750 | Human | 1 | name |
| 15131047 | CV786903 | single nucleotide variant | NM_018486.3(HDAC8):c.21G>C (p.Pro7=) | Cornelia de Lange syndrome 5 [RCV000981145] | likely benign | X | 72572741 | 72572741 | Human | 1 | name |
| 150425092 | CV1185853 | single nucleotide variant | NM_018486.3(HDAC8):c.8A>C (p.Glu3Ala) | not provided [RCV001557549] | uncertain significance | X | 72572754 | 72572754 | Human | | name |
| 150426744 | CV1189157 | deletion | NM_018486.3(HDAC8):c.112-18_112-17del | not provided [RCV001559968] | likely benign | X | 72572126 | 72572127 | Human | | name |
| 150546444 | CV1291304 | single nucleotide variant | NM_018486.3(HDAC8):c.57C>T (p.Ile19=) | Cornelia de Lange syndrome 5 [RCV002073976]|Inborn genetic diseases [RCV002359229]|not provided [RCV001733145] | benign|likely benign | X | 72572705 | 72572705 | Human | 2 | name |
| 156053114 | CV1974450 | single nucleotide variant | NM_018486.3(HDAC8):c.66C>G (p.Pro22=) | Cornelia de Lange syndrome 5 [RCV002590725] | likely benign | X | 72572696 | 72572696 | Human | 1 | name |
| 156214434 | CV2047449 | deletion | NM_018486.3(HDAC8):c.737+16_737+28del | Cornelia de Lange syndrome 5 [RCV002790376] | likely benign | X | 72488905 | 72488917 | Human | 1 | name |
| 156022486 | CV2138955 | deletion | NM_018486.3(HDAC8):c.437+16_437+19del | Cornelia de Lange syndrome 5 [RCV002998746] | likely benign | X | 72567870 | 72567873 | Human | 1 | name |
| 329952794 | CV2670143 | single nucleotide variant | NM_018486.3(HDAC8):c.4G>T (p.Glu2Ter) | not provided [RCV003233353] | uncertain significance | X | 72572758 | 72572758 | Human | | name |
| 405039283 | CV3080264 | single nucleotide variant | NM_018486.3(HDAC8):c.66C>T (p.Pro22=) | Cornelia de Lange syndrome 5 [RCV003653078] | likely benign | X | 72572696 | 72572696 | Human | 1 | name |
| 404991528 | CV3183866 | duplication | NM_018486.3(HDAC8):c.112-18_112-17dup | Cornelia de Lange syndrome 5 [RCV003881639] | benign | X | 72572125 | 72572126 | Human | 1 | name |
| 597916348 | CV3771535 | single nucleotide variant | NM_018486.3(HDAC8):c.93G>C (p.Leu31=) | Cornelia de Lange syndrome 5 [RCV005114466] | likely benign | X | 72572669 | 72572669 | Human | 1 | name |
| 597857039 | CV3849811 | single nucleotide variant | NM_018486.3(HDAC8):c.45C>G (p.Val15=) | Cornelia de Lange syndrome 5 [RCV005195320] | likely benign | X | 72572717 | 72572717 | Human | 1 | name |
| 127334918 | CV1150941 | single nucleotide variant | NM_018486.3(HDAC8):c.213C>T (p.His71=) | Cornelia de Lange syndrome 5 [RCV001491181] | likely benign | X | 72568836 | 72568836 | Human | 1 | name |
| 152131061 | CV1552974 | single nucleotide variant | NM_018486.3(HDAC8):c.135T>C (p.Ile45=) | Cornelia de Lange syndrome 5 [RCV002199327] | likely benign | X | 72572086 | 72572086 | Human | 1 | name |
| 9682566 | CV170175 | single nucleotide variant | NM_018486.3(HDAC8):c.159G>A (p.Gln53=) | Cornelia de Lange syndrome 5 [RCV001514283]|Inborn genetic diseases [RCV002312642]|not provided [RCV004713374]|not specified [RCV000146088] | benign | X | 72572062 | 72572062 | Human | 2 | name |
| 156148233 | CV1964019 | single nucleotide variant | NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu) | Cornelia de Lange syndrome 5 [RCV002572812] | benign | X | 72572751 | 72572751 | Human | 1 | name |
| 156111694 | CV2088150 | deletion | NM_018486.3(HDAC8):c.1112-10_1112-9del | Cornelia de Lange syndrome 5 [RCV002889216] | likely benign | X | 72330085 | 72330086 | Human | 1 | name |
| 10408249 | CV209175 | single nucleotide variant | NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg) | Cornelia de Lange syndrome 5 [RCV002056989]|Inborn genetic diseases [RCV002415825]|not provided [RCV003436991]|not specified [RCV000192630] | benign|likely benign | X | 72572742 | 72572742 | Human | 2 | name |
| 156047425 | CV2144284 | single nucleotide variant | NM_018486.3(HDAC8):c.225T>C (p.Tyr75=) | Cornelia de Lange syndrome 5 [RCV002999757] | likely benign | X | 72568824 | 72568824 | Human | 1 | name |
| 405088119 | CV2859082 | single nucleotide variant | NM_018486.3(HDAC8):c.23C>A (p.Ala8Glu) | Cornelia de Lange syndrome 5 [RCV003536223] | uncertain significance | X | 72572739 | 72572739 | Human | 1 | name |
| 405144488 | CV2873378 | single nucleotide variant | NM_018486.3(HDAC8):c.291G>A (p.Gly97=) | Cornelia de Lange syndrome 5 [RCV003537808] | uncertain significance | X | 72568758 | 72568758 | Human | 1 | name |
| 405036153 | CV3013706 | single nucleotide variant | NM_018486.3(HDAC8):c.111G>C (p.Arg37=) | Cornelia de Lange syndrome 5 [RCV003652733] | uncertain significance | X | 72572651 | 72572651 | Human | 1 | name |
| 405027444 | CV3064812 | single nucleotide variant | NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln) | Cornelia de Lange syndrome 5 [RCV003651502] | benign | X | 72572742 | 72572742 | Human | 1 | name |
| 405087699 | CV3167477 | single nucleotide variant | NM_018486.3(HDAC8):c.141A>T (p.Ala47=) | Cornelia de Lange syndrome 5 [RCV003852059] | likely benign | X | 72572080 | 72572080 | Human | 1 | name |
| 12893797 | CV411479 | indel | NM_018486.3(HDAC8):c.164_164+1delinsCT | not provided [RCV000480268] | likely pathogenic | X | 72572056 | 72572057 | Human | | name |
| 14349810 | CV590813 | single nucleotide variant | NM_018486.3(HDAC8):c.20C>T (p.Pro7Leu) | not specified [RCV000736051] | benign | X | 72572742 | 72572742 | Human | | name |
| 38462314 | CV920063 | single nucleotide variant | NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) | Cornelia de Lange syndrome 5 [RCV001198100]|Inborn genetic diseases [RCV004033476]|not provided [RCV003438718] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 72572740 | 72572740 | Human | 2 | name |
| 127295021 | CV1150940 | single nucleotide variant | NM_018486.3(HDAC8):c.561C>T (p.Asp187=) | Cornelia de Lange syndrome 5 [RCV001497144] | likely benign | X | 72490996 | 72490996 | Human | 1 | name |
| 127290674 | CV1159826 | single nucleotide variant | NM_018486.3(HDAC8):c.372A>G (p.Gln124=) | Cornelia de Lange syndrome 5 [RCV001509944] | benign | X | 72567954 | 72567954 | Human | 1 | name |
| 150336092 | CV1166487 | single nucleotide variant | NM_018486.3(HDAC8):c.756C>T (p.Tyr252=) | Cornelia de Lange syndrome 5 [RCV002568899]|not provided [RCV001531789] | likely benign | X | 72464713 | 72464713 | Human | 1 | name |
| 151866975 | CV1342368 | single nucleotide variant | NM_018486.3(HDAC8):c.68A>C (p.Glu23Ala) | Cornelia de Lange syndrome 5 [RCV001997853] | uncertain significance | X | 72572694 | 72572694 | Human | 1 | name |
| 151789200 | CV1450894 | single nucleotide variant | NM_018486.3(HDAC8):c.29G>A (p.Ser10Asn) | Cornelia de Lange syndrome 5 [RCV001931241] | uncertain significance | X | 72572733 | 72572733 | Human | 1 | name |
| 152121819 | CV1521502 | single nucleotide variant | NM_018486.3(HDAC8):c.357G>A (p.Thr119=) | Cornelia de Lange syndrome 5 [RCV002135800] | benign | X | 72567969 | 72567969 | Human | 1 | name |
| 152051677 | CV1521535 | single nucleotide variant | NM_018486.3(HDAC8):c.384C>T (p.Asp128=) | Cornelia de Lange syndrome 5 [RCV002145764]|Inborn genetic diseases [RCV002352913] | likely benign | X | 72567942 | 72567942 | Human | 2 | name |
| 152101132 | CV1546920 | single nucleotide variant | NM_018486.3(HDAC8):c.984C>T (p.Ser328=) | Cornelia de Lange syndrome 5 [RCV002151826] | benign | X | 72462025 | 72462025 | Human | 1 | name |
| 152164090 | CV1560444 | single nucleotide variant | NM_018486.3(HDAC8):c.330C>T (p.Asp110=) | Cornelia de Lange syndrome 5 [RCV002160177] | likely benign | X | 72567996 | 72567996 | Human | 1 | name |
| 152070927 | CV1591472 | single nucleotide variant | NM_018486.3(HDAC8):c.318A>G (p.Glu106=) | Cornelia de Lange syndrome 5 [RCV002209966] | likely benign | X | 72568008 | 72568008 | Human | 1 | name |
| 152078240 | CV1626975 | single nucleotide variant | NM_018486.3(HDAC8):c.558A>G (p.Glu186=) | Cornelia de Lange syndrome 5 [RCV002112402] | likely benign | X | 72490999 | 72490999 | Human | 1 | name |
| 152132144 | CV1631236 | single nucleotide variant | NM_018486.3(HDAC8):c.957C>T (p.Thr319=) | Cornelia de Lange syndrome 5 [RCV002119225]|Inborn genetic diseases [RCV002382415] | likely benign | X | 72462052 | 72462052 | Human | 2 | name |
| 152115416 | CV1639968 | single nucleotide variant | NM_018486.3(HDAC8):c.342T>C (p.Ala114=) | Cornelia de Lange syndrome 5 [RCV002080820]|not provided [RCV003438935] | likely benign | X | 72567984 | 72567984 | Human | 1 | name |
| 152172643 | CV1658723 | single nucleotide variant | NM_018486.3(HDAC8):c.834C>T (p.Asn278=) | Cornelia de Lange syndrome 5 [RCV002162529] | likely benign | X | 72464635 | 72464635 | Human | 1 | name |
| 152140892 | CV1660943 | single nucleotide variant | NM_018486.3(HDAC8):c.951C>T (p.Tyr317=) | Cornelia de Lange syndrome 5 [RCV002120354] | likely benign | X | 72462058 | 72462058 | Human | 1 | name |
| 156258755 | CV1906397 | single nucleotide variant | NM_018486.3(HDAC8):c.615A>G (p.Pro205=) | Cornelia de Lange syndrome 5 [RCV003086363] | likely benign | X | 72490942 | 72490942 | Human | 1 | name |
| 156397050 | CV1980650 | single nucleotide variant | NM_018486.3(HDAC8):c.747G>A (p.Lys249=) | Cornelia de Lange syndrome 5 [RCV002605222] | likely benign | X | 72464722 | 72464722 | Human | 1 | name |
| 156013547 | CV2076397 | single nucleotide variant | NM_018486.3(HDAC8):c.477C>T (p.Val159=) | Cornelia de Lange syndrome 5 [RCV002866233] | likely benign | X | 72495229 | 72495229 | Human | 1 | name |
| 155994226 | CV2147821 | single nucleotide variant | NM_018486.3(HDAC8):c.381T>A (p.Ile127=) | Cornelia de Lange syndrome 5 [RCV003016973] | likely benign | X | 72567945 | 72567945 | Human | 1 | name |
| 156312157 | CV2164216 | single nucleotide variant | NM_018486.3(HDAC8):c.510G>A (p.Glu170=) | Cornelia de Lange syndrome 5 [RCV003046093] | likely benign | X | 72495196 | 72495196 | Human | 1 | name |
| 156255392 | CV2185234 | single nucleotide variant | NM_018486.3(HDAC8):c.603C>T (p.His201=) | Cornelia de Lange syndrome 5 [RCV003043936] | likely benign | X | 72490954 | 72490954 | Human | 1 | name |
| 401738617 | CV2676334 | single nucleotide variant | NM_018486.3(HDAC8):c.80T>C (p.Met27Thr) | Inborn genetic diseases [RCV003240219] | uncertain significance | X | 72572682 | 72572682 | Human | 1 | name |
| 405141403 | CV2871290 | single nucleotide variant | NM_018486.3(HDAC8):c.930C>T (p.Asn310=) | Cornelia de Lange syndrome 5 [RCV003537519] | likely benign | X | 72462079 | 72462079 | Human | 1 | name |
| 405151622 | CV2882164 | single nucleotide variant | NM_018486.3(HDAC8):c.474T>C (p.Ala158=) | Cornelia de Lange syndrome 5 [RCV003538941] | benign | X | 72495232 | 72495232 | Human | 1 | name |
| 405153303 | CV2893079 | single nucleotide variant | NM_018486.3(HDAC8):c.669G>T (p.Arg223=) | Cornelia de Lange syndrome 5 [RCV003539133] | benign | X | 72489001 | 72489001 | Human | 1 | name |
| 405080678 | CV2897866 | single nucleotide variant | NM_018486.3(HDAC8):c.666A>G (p.Gly222=) | Cornelia de Lange syndrome 5 [RCV003535125] | likely benign | X | 72489004 | 72489004 | Human | 1 | name |
| 405084653 | CV2903240 | single nucleotide variant | NM_018486.3(HDAC8):c.894A>G (p.Thr298=) | Cornelia de Lange syndrome 5 [RCV003535479] | likely benign | X | 72464575 | 72464575 | Human | 1 | name |
| 405094864 | CV2914088 | single nucleotide variant | NM_018486.3(HDAC8):c.927C>T (p.Ala309=) | Cornelia de Lange syndrome 5 [RCV003536816] | likely benign | X | 72462082 | 72462082 | Human | 1 | name |
| 405149212 | CV2933606 | single nucleotide variant | NM_018486.3(HDAC8):c.657A>C (p.Leu219=) | Cornelia de Lange syndrome 5 [RCV003538323] | likely benign | X | 72489013 | 72489013 | Human | 1 | name |
| 405149222 | CV2933727 | single nucleotide variant | NM_018486.3(HDAC8):c.43G>A (p.Val15Ile) | Cornelia de Lange syndrome 5 [RCV003538324]|not provided [RCV004780599] | uncertain significance | X | 72572719 | 72572719 | Human | 1 | name |
| 405023343 | CV2982720 | single nucleotide variant | NM_018486.3(HDAC8):c.828C>T (p.Ser276=) | Cornelia de Lange syndrome 5 [RCV003651056] | likely benign | X | 72464641 | 72464641 | Human | 1 | name |
| 405024918 | CV2998871 | single nucleotide variant | NM_018486.3(HDAC8):c.525G>A (p.Val175=) | Cornelia de Lange syndrome 5 [RCV003651271] | likely benign | X | 72495181 | 72495181 | Human | 1 | name |
| 405033040 | CV3007839 | single nucleotide variant | NM_018486.3(HDAC8):c.306C>T (p.Cys102=) | Cornelia de Lange syndrome 5 [RCV003652464] | likely benign | X | 72568020 | 72568020 | Human | 1 | name |
| 405019387 | CV3049204 | single nucleotide variant | NM_018486.3(HDAC8):c.487T>C (p.Leu163=) | Cornelia de Lange syndrome 5 [RCV003650233] | likely benign | X | 72495219 | 72495219 | Human | 1 | name |
| 405011869 | CV3128141 | single nucleotide variant | NM_018486.3(HDAC8):c.31G>C (p.Gly11Arg) | Cornelia de Lange syndrome 5 [RCV003829021] | uncertain significance | X | 72572731 | 72572731 | Human | 1 | name |
| 405873075 | CV3398384 | single nucleotide variant | NM_018486.3(HDAC8):c.363A>G (p.Thr121=) | not provided [RCV004575880] | likely benign | X | 72567963 | 72567963 | Human | | name |
| 407426210 | CV3409768 | single nucleotide variant | NM_018486.3(HDAC8):c.942C>T (p.Cys314=) | not provided [RCV004585700] | likely benign | X | 72462067 | 72462067 | Human | | name |
| 596948212 | CV3549293 | single nucleotide variant | NM_018486.3(HDAC8):c.993C>T (p.Ile331=) | not provided [RCV004812113] | uncertain significance | X | 72462016 | 72462016 | Human | | name |
| 597863710 | CV3745374 | single nucleotide variant | NM_018486.3(HDAC8):c.657A>G (p.Leu219=) | Cornelia de Lange syndrome 5 [RCV005067730] | likely benign | X | 72489013 | 72489013 | Human | 1 | name |
| 597944342 | CV3754994 | single nucleotide variant | NM_018486.3(HDAC8):c.519C>T (p.Leu173=) | Cornelia de Lange syndrome 5 [RCV005078183] | likely benign | X | 72495187 | 72495187 | Human | 1 | name |
| 597967146 | CV3794426 | single nucleotide variant | NM_018486.3(HDAC8):c.996A>G (p.Pro332=) | Cornelia de Lange syndrome 5 [RCV005140602] | likely benign | X | 72462013 | 72462013 | Human | 1 | name |
| 597907788 | CV3843055 | single nucleotide variant | NM_018486.3(HDAC8):c.354T>C (p.Ala118=) | Cornelia de Lange syndrome 5 [RCV005182363] | likely benign | X | 72567972 | 72567972 | Human | 1 | name |
| 597931497 | CV3863234 | single nucleotide variant | NM_018486.3(HDAC8):c.948A>C (p.Thr316=) | Cornelia de Lange syndrome 5 [RCV005206760] | likely benign | X | 72462061 | 72462061 | Human | 1 | name |
| 13828762 | CV581186 | single nucleotide variant | NM_018486.3(HDAC8):c.429T>C (p.His143=) | Cornelia de Lange syndrome 5 [RCV002060906]|Inborn genetic diseases [RCV002316046] | likely benign | X | 72567897 | 72567897 | Human | 2 | name |
| 15129543 | CV694932 | single nucleotide variant | NM_018486.3(HDAC8):c.915C>G (p.Gly305=) | Cornelia de Lange syndrome 5 [RCV001487019] | likely benign | X | 72462094 | 72462094 | Human | 1 | name |
| 15108877 | CV694933 | single nucleotide variant | NM_018486.3(HDAC8):c.351G>T (p.Gly117=) | Cornelia de Lange syndrome 5 [RCV000871784]|HDAC8-related disorder [RCV004754591]|Inborn genetic diseases [RCV002454011] | benign|likely benign | X | 72567975 | 72567975 | Human | 2 | name , trait , alternate_id |
| 15109886 | CV717857 | single nucleotide variant | NM_018486.3(HDAC8):c.933G>A (p.Thr311=) | Cornelia de Lange syndrome 5 [RCV002066376]|HDAC8-related disorder [RCV003926132] | benign|likely benign | X | 72462076 | 72462076 | Human | 1 | name , trait , alternate_id |
| 15177247 | CV729698 | single nucleotide variant | NM_018486.3(HDAC8):c.516T>A (p.Ile172=) | Cornelia de Lange syndrome 5 [RCV002065495]|HDAC8-related disorder [RCV003968029] | benign|likely benign | X | 72495190 | 72495190 | Human | 1 | name , trait , alternate_id |
| 15136051 | CV743468 | single nucleotide variant | NM_018486.3(HDAC8):c.639C>T (p.Asp213=) | Cornelia de Lange syndrome 5 [RCV002065656]|HDAC8-related disorder [RCV003912826] | benign|likely benign | X | 72489031 | 72489031 | Human | 1 | name , trait , alternate_id |
| 15187456 | CV743469 | single nucleotide variant | NM_018486.3(HDAC8):c.522C>T (p.Tyr174=) | Cornelia de Lange syndrome 5 [RCV002542102] | benign | X | 72495184 | 72495184 | Human | 1 | name |
| 150455597 | CV1214324 | single nucleotide variant | NM_018486.3(HDAC8):c.238C>T (p.Gln80Ter) | not provided [RCV001596894] | likely pathogenic | X | 72568811 | 72568811 | Human | | name |
| 150551443 | CV1297368 | single nucleotide variant | NM_018486.3(HDAC8):c.262G>A (p.Asp88Asn) | Cornelia de Lange syndrome 5 [RCV005094965]|not provided [RCV001767050] | uncertain significance | X | 72568787 | 72568787 | Human | 1 | name |
| 150534721 | CV1311545 | single nucleotide variant | NM_018486.3(HDAC8):c.134T>C (p.Ile45Thr) | Cornelia de Lange syndrome 5 [RCV001779391] | likely pathogenic|uncertain significance | X | 72572087 | 72572087 | Human | 1 | name |
| 151348611 | CV1324120 | deletion | NM_018486.3(HDAC8):c.551del (p.Gly184fs) | Cornelia de Lange syndrome 5 [RCV001808034] | likely pathogenic | X | 72491006 | 72491006 | Human | 1 | name |
| 151876948 | CV1395307 | single nucleotide variant | NM_018486.3(HDAC8):c.104C>T (p.Pro35Leu) | Cornelia de Lange syndrome 5 [RCV002019653] | uncertain significance | X | 72572658 | 72572658 | Human | 1 | name |
| 152112911 | CV1520303 | single nucleotide variant | NM_018486.3(HDAC8):c.1047G>A (p.Thr349=) | Cornelia de Lange syndrome 5 [RCV002153291]|Inborn genetic diseases [RCV002400361] | benign|likely benign | X | 72351797 | 72351797 | Human | 2 | name |
| 152156302 | CV1668508 | single nucleotide variant | NM_018486.3(HDAC8):c.110G>A (p.Arg37Gln) | Cornelia de Lange syndrome 5 [RCV004784039]|not provided [RCV002222790] | pathogenic|likely pathogenic | X | 72572652 | 72572652 | Human | 1 | name |
| 155731239 | CV1780964 | single nucleotide variant | NM_018486.3(HDAC8):c.121G>A (p.Val41Met) | not provided [RCV002308752] | likely pathogenic|uncertain significance | X | 72572100 | 72572100 | Human | | name |
| 156253910 | CV2003588 | single nucleotide variant | NM_018486.3(HDAC8):c.1104C>T (p.Tyr368=) | Cornelia de Lange syndrome 5 [RCV002627542] | likely benign | X | 72351740 | 72351740 | Human | 1 | name |
| 155962186 | CV2089137 | deletion | NM_018486.3(HDAC8):c.748del (p.Glu250fs) | Cornelia de Lange syndrome 5 [RCV002881076] | pathogenic | X | 72464721 | 72464721 | Human | 1 | name |
| 10408358 | CV209173 | single nucleotide variant | NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter) | Cornelia de Lange syndrome 5 [RCV000193465] | pathogenic | X | 72568820 | 72568820 | Human | 1 | name |
| 156076658 | CV2098386 | single nucleotide variant | NM_018486.3(HDAC8):c.166A>G (p.Ile56Val) | Cornelia de Lange syndrome 5 [RCV002912560] | benign | X | 72568883 | 72568883 | Human | 1 | name |
| 329848781 | CV2523529 | single nucleotide variant | NM_018486.3(HDAC8):c.211C>T (p.His71Tyr) | not provided [RCV003225543] | pathogenic | X | 72568838 | 72568838 | Human | | name |
| 401829206 | CV2747281 | single nucleotide variant | NM_018486.3(HDAC8):c.283G>C (p.Glu95Gln) | not provided [RCV003328746] | uncertain significance | X | 72568766 | 72568766 | Human | | name |
| 405083620 | CV2902718 | single nucleotide variant | NM_018486.3(HDAC8):c.1068C>A (p.Arg356=) | Cornelia de Lange syndrome 5 [RCV003535389] | likely benign | X | 72351776 | 72351776 | Human | 1 | name |
| 405043305 | CV3023392 | single nucleotide variant | NM_018486.3(HDAC8):c.1053C>T (p.Ser351=) | Cornelia de Lange syndrome 5 [RCV003653894] | likely benign | X | 72351791 | 72351791 | Human | 1 | name |
| 405004488 | CV3184557 | single nucleotide variant | NM_018486.3(HDAC8):c.164G>T (p.Arg55Met) | Cornelia de Lange syndrome 5 [RCV003883346] | likely pathogenic | X | 72572057 | 72572057 | Human | 1 | name |
| 597690370 | CV3679140 | single nucleotide variant | NM_018486.3(HDAC8):c.193G>T (p.Glu65Ter) | Inborn genetic diseases [RCV004985692] | pathogenic | X | 72568856 | 72568856 | Human | 1 | name |
| 597943879 | CV3782703 | single nucleotide variant | NM_018486.3(HDAC8):c.1081C>A (p.Arg361=) | Cornelia de Lange syndrome 5 [RCV005134243] | likely benign | X | 72351763 | 72351763 | Human | 1 | name |
| 13445964 | CV438453 | single nucleotide variant | NM_018486.3(HDAC8):c.198G>T (p.Glu66Asp) | Cornelia de Lange syndrome 5 [RCV003651942]|not provided [RCV000513093] | uncertain significance | X | 72568851 | 72568851 | Human | 1 | name |
| 13830344 | CV581187 | single nucleotide variant | NM_018486.3(HDAC8):c.281T>C (p.Ile94Thr) | Cornelia de Lange syndrome 5 [RCV002533046]|Inborn genetic diseases [RCV002317458] | likely benign|uncertain significance | X | 72568768 | 72568768 | Human | 2 | name |
| 15128115 | CV694934 | single nucleotide variant | NM_018486.3(HDAC8):c.169G>A (p.Val57Ile) | Cornelia de Lange syndrome 5 [RCV002539201]|not provided [RCV003992415] | benign|likely benign | X | 72568880 | 72568880 | Human | 1 | name |
| 15120572 | CV774201 | single nucleotide variant | NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn) | Cornelia de Lange syndrome 5 [RCV001523751]|Inborn genetic diseases [RCV002416201] | benign|likely benign | X | 72568843 | 72568843 | Human | 2 | name |
| 38463672 | CV920062 | single nucleotide variant | NM_018486.3(HDAC8):c.182T>G (p.Val61Gly) | Cornelia de Lange syndrome 5 [RCV001199225] | uncertain significance | X | 72568867 | 72568867 | Human | 1 | name |
| 40887583 | CV974428 | single nucleotide variant | NM_018486.3(HDAC8):c.196G>A (p.Glu66Lys) | Inborn genetic diseases [RCV001267200] | uncertain significance | X | 72568853 | 72568853 | Human | 1 | name |
| 40887633 | CV974429 | single nucleotide variant | NM_018486.3(HDAC8):c.122T>A (p.Val41Glu) | Inborn genetic diseases [RCV001267239] | uncertain significance | X | 72572099 | 72572099 | Human | 1 | name |
| 126909040 | CV1053157 | single nucleotide variant | NM_018486.3(HDAC8):c.415G>A (p.Gly139Arg) | Neurodevelopmental disorder [RCV001374901] | likely pathogenic | X | 72567911 | 72567911 | Human | 1 | name |
| 127270927 | CV1065498 | single nucleotide variant | NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter) | Cornelia de Lange syndrome 5 [RCV001389995] | pathogenic | X | 72495184 | 72495184 | Human | 1 | name |
| 151233681 | CV1153070 | single nucleotide variant | NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu) | Cornelia de Lange syndrome 5 [RCV001788538] | pathogenic | X | 72495235 | 72495235 | Human | 1 | name |
| 150545898 | CV1297003 | single nucleotide variant | NM_018486.3(HDAC8):c.500G>C (p.Arg167Pro) | Cornelia de Lange syndrome 5 [RCV005094985]|not provided [RCV001763294] | uncertain significance | X | 72495206 | 72495206 | Human | 1 | name |
| 150553510 | CV1303514 | single nucleotide variant | NM_018486.3(HDAC8):c.830T>G (p.Phe277Cys) | not provided [RCV001769204] | uncertain significance | X | 72464639 | 72464639 | Human | | name |
| 150547838 | CV1303783 | single nucleotide variant | NM_018486.3(HDAC8):c.554T>C (p.Val185Ala) | not provided [RCV001763886] | uncertain significance | X | 72491003 | 72491003 | Human | | name |
| 150554420 | CV1304115 | single nucleotide variant | NM_018486.3(HDAC8):c.835A>G (p.Met279Val) | Cornelia de Lange syndrome 5 [RCV002540518]|Inborn genetic diseases [RCV005350642]|not provided [RCV001771085] | uncertain significance | X | 72464634 | 72464634 | Human | 2 | name |
| 151232608 | CV1316855 | single nucleotide variant | NM_018486.3(HDAC8):c.440A>G (p.Asp147Gly) | not provided [RCV001786675] | uncertain significance | X | 72495266 | 72495266 | Human | | name |
| 151348576 | CV1324101 | single nucleotide variant | NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter) | Cornelia de Lange syndrome 5 [RCV001808014] | pathogenic | X | 72464588 | 72464588 | Human | 1 | name |
| 151350608 | CV1324779 | single nucleotide variant | NM_018486.3(HDAC8):c.508G>A (p.Glu170Lys) | Cornelia de Lange syndrome 5 [RCV001809224] | uncertain significance | X | 72495198 | 72495198 | Human | 1 | name |
| 151354175 | CV1329308 | single nucleotide variant | NM_018486.3(HDAC8):c.862C>T (p.Leu288Phe) | not provided [RCV001817671] | likely pathogenic | X | 72464607 | 72464607 | Human | | name |
| 151845346 | CV1372545 | single nucleotide variant | NM_018486.3(HDAC8):c.683A>T (p.Asn228Ile) | Cornelia de Lange syndrome 5 [RCV001995257] | uncertain significance | X | 72488987 | 72488987 | Human | 1 | name |
| 151859908 | CV1373976 | single nucleotide variant | NM_018486.3(HDAC8):c.956C>T (p.Thr319Ile) | Cornelia de Lange syndrome 5 [RCV001938407] | pathogenic|uncertain significance | X | 72462053 | 72462053 | Human | 1 | name |
| 151738149 | CV1437354 | single nucleotide variant | NM_018486.3(HDAC8):c.914G>A (p.Gly305Asp) | Cornelia de Lange syndrome 5 [RCV001870742] | uncertain significance | X | 72462095 | 72462095 | Human | 1 | name |
| 152154244 | CV1667863 | single nucleotide variant | NM_018486.3(HDAC8):c.502A>G (p.Lys168Glu) | Cornelia de Lange syndrome 5 [RCV003093857]|Inborn genetic diseases [RCV004973362]|not provided [RCV002221756] | uncertain significance | X | 72495204 | 72495204 | Human | 2 | name |
| 155679099 | CV1779340 | single nucleotide variant | NM_018486.3(HDAC8):c.440A>T (p.Asp147Val) | Cornelia de Lange syndrome 5 [RCV002298074] | uncertain significance | X | 72495266 | 72495266 | Human | 1 | name |
| 155739793 | CV1779605 | single nucleotide variant | NM_018486.3(HDAC8):c.976A>G (p.Thr326Ala) | Cornelia de Lange syndrome 5 [RCV002302239] | uncertain significance | X | 72462033 | 72462033 | Human | 1 | name |
| 155739874 | CV1779613 | single nucleotide variant | NM_018486.3(HDAC8):c.717A>T (p.Lys239Asn) | Cornelia de Lange syndrome 5 [RCV002302244] | uncertain significance | X | 72488953 | 72488953 | Human | 1 | name |
| 155714456 | CV1780311 | single nucleotide variant | NM_018486.3(HDAC8):c.473C>T (p.Ala158Val) | not provided [RCV002305915] | uncertain significance | X | 72495233 | 72495233 | Human | | name |
| 155736174 | CV1798576 | single nucleotide variant | NM_018486.3(HDAC8):c.467A>G (p.Asn156Ser) | Cornelia de Lange syndrome 5 [RCV005096627]|Inborn genetic diseases [RCV002330528] | likely pathogenic|uncertain significance | X | 72495239 | 72495239 | Human | 2 | name |
| 155944505 | CV1875194 | single nucleotide variant | NM_018486.3(HDAC8):c.383A>T (p.Asp128Val) | Cornelia de Lange syndrome 5 [RCV003073760]|Inborn genetic diseases [RCV004070229] | uncertain significance | X | 72567943 | 72567943 | Human | 2 | name |
| 156372306 | CV2017785 | single nucleotide variant | NM_018486.3(HDAC8):c.500G>A (p.Arg167Gln) | Cornelia de Lange syndrome 5 [RCV002677006] | uncertain significance | X | 72495206 | 72495206 | Human | 1 | name |
| 156209941 | CV2076901 | single nucleotide variant | NM_018486.3(HDAC8):c.767A>T (p.Asn256Ile) | Cornelia de Lange syndrome 5 [RCV002852787] | likely benign | X | 72464702 | 72464702 | Human | 1 | name |
| 10408244 | CV209171 | single nucleotide variant | NM_018486.3(HDAC8):c.770C>A (p.Pro257His) | Cornelia de Lange syndrome 5 [RCV000192571] | likely pathogenic | X | 72464699 | 72464699 | Human | 1 | name |
| 10408478 | CV209172 | single nucleotide variant | NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys) | Cornelia de Lange syndrome 5 [RCV000194360] | likely pathogenic | X | 72491001 | 72491001 | Human | 1 | name |
| 156072671 | CV2102025 | single nucleotide variant | NM_018486.3(HDAC8):c.640G>A (p.Val214Met) | Cornelia de Lange syndrome 5 [RCV002912434] | uncertain significance | X | 72489030 | 72489030 | Human | 1 | name |
| 156089589 | CV2132261 | single nucleotide variant | NM_018486.3(HDAC8):c.822G>A (p.Met274Ile) | Cornelia de Lange syndrome 5 [RCV002979552] | uncertain significance | X | 72464647 | 72464647 | Human | 1 | name |
| 155904493 | CV2137594 | single nucleotide variant | NM_018486.3(HDAC8):c.310G>A (p.Ala104Thr) | Cornelia de Lange syndrome 5 [RCV003011836] | uncertain significance | X | 72568016 | 72568016 | Human | 1 | name |
| 156056682 | CV2192755 | single nucleotide variant | NM_018486.3(HDAC8):c.601C>T (p.His201Tyr) | not provided [RCV003037103] | likely pathogenic | X | 72490956 | 72490956 | Human | | name |
| 156169976 | CV2337405 | single nucleotide variant | NM_018486.3(HDAC8):c.491G>T (p.Arg164Leu) | Cornelia de Lange syndrome 5 [RCV003534975]|Inborn genetic diseases [RCV002955778] | likely benign | X | 72495215 | 72495215 | Human | 2 | name |
| 11350865 | CV237161 | single nucleotide variant | NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) | Inborn genetic diseases [RCV000624825]|not provided [RCV000224545] | pathogenic|likely pathogenic|uncertain significance | X | 72567910 | 72567910 | Human | 1 | name |
| 243059958 | CV2412904 | single nucleotide variant | NM_018486.3(HDAC8):c.938G>A (p.Arg313Gln) | Cornelia de Lange syndrome 5 [RCV003135539] | uncertain significance | X | 72462071 | 72462071 | Human | 1 | name |
| 243050737 | CV2415528 | single nucleotide variant | NM_018486.3(HDAC8):c.602A>T (p.His201Leu) | Cornelia de Lange syndrome 5 [RCV003148118] | uncertain significance | X | 72490955 | 72490955 | Human | 1 | name |
| 243057022 | CV2419403 | duplication | NM_018486.3(HDAC8):c.75_82dup (p.Cys28fs) | Cornelia de Lange syndrome 5 [RCV003155899] | pathogenic | X | 72572679 | 72572680 | Human | 1 | name |
| 329846631 | CV2523834 | duplication | NM_018486.3(HDAC8):c.1011dup (p.Thr338fs) | Cornelia de Lange syndrome 5 [RCV003226124] | likely pathogenic | X | 72351832 | 72351833 | Human | 1 | name |
| 11559867 | CV260342 | single nucleotide variant | NM_018486.3(HDAC8):c.907G>T (p.Gly303Ter) | not provided [RCV000255168] | pathogenic | X | 72464562 | 72464562 | Human | | name |
| 11632991 | CV265061 | single nucleotide variant | NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) | Cornelia de Lange syndrome 1 [RCV000856789]|Global developmental delay [RCV000415456]|Inborn genetic diseases [RCV000624895]|not provided [RCV000302320] | pathogenic | X | 72495210 | 72495210 | Human | 9 | name |
| 11633929 | CV265124 | single nucleotide variant | NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter) | Cornelia de Lange syndrome 5 [RCV000677735]|not provided [RCV000382319] | pathogenic | X | 72464682 | 72464682 | Human | 1 | name |
| 401795902 | CV2742871 | single nucleotide variant | NM_018486.3(HDAC8):c.917A>G (p.Tyr306Cys) | not provided [RCV003325387] | likely pathogenic | X | 72462092 | 72462092 | Human | | name |
| 401917308 | CV2829786 | single nucleotide variant | NM_018486.3(HDAC8):c.961G>C (p.Val321Leu) | not provided [RCV003443830] | uncertain significance | X | 72462048 | 72462048 | Human | | name |
| 404978841 | CV2852345 | duplication | NM_018486.3(HDAC8):c.1010dup (p.Thr338fs) | Cornelia de Lange syndrome 5 [RCV003487263] | pathogenic | X | 72351833 | 72351834 | Human | 1 | name |
| 405141577 | CV2867932 | single nucleotide variant | NM_018486.3(HDAC8):c.898A>C (p.Ile300Leu) | Cornelia de Lange syndrome 5 [RCV003537537] | uncertain significance | X | 72464571 | 72464571 | Human | 1 | name |
| 405014319 | CV2963373 | single nucleotide variant | NM_018486.3(HDAC8):c.925G>T (p.Ala309Ser) | Cornelia de Lange syndrome 5 [RCV003649652] | uncertain significance | X | 72462084 | 72462084 | Human | 1 | name |
| 405015532 | CV2973234 | single nucleotide variant | NM_018486.3(HDAC8):c.587T>C (p.Met196Thr) | Cornelia de Lange syndrome 5 [RCV003649816] | uncertain significance | X | 72490970 | 72490970 | Human | 1 | name |
| 405021692 | CV2978313 | single nucleotide variant | NM_018486.3(HDAC8):c.349G>A (p.Gly117Arg) | Cornelia de Lange syndrome 5 [RCV003650947] | uncertain significance | X | 72567977 | 72567977 | Human | 1 | name |
| 405025010 | CV2999151 | single nucleotide variant | NM_018486.3(HDAC8):c.831T>A (p.Phe277Leu) | Cornelia de Lange syndrome 5 [RCV003651280] | uncertain significance | X | 72464638 | 72464638 | Human | 1 | name |
| 405044250 | CV3023640 | single nucleotide variant | NM_018486.3(HDAC8):c.590C>A (p.Thr197Asn) | Cornelia de Lange syndrome 5 [RCV003653934] | uncertain significance | X | 72490967 | 72490967 | Human | 1 | name |
| 405019738 | CV3048887 | single nucleotide variant | NM_018486.3(HDAC8):c.731G>A (p.Cys244Tyr) | Cornelia de Lange syndrome 5 [RCV003650223] | uncertain significance | X | 72488939 | 72488939 | Human | 1 | name |
| 405019883 | CV3049606 | single nucleotide variant | NM_018486.3(HDAC8):c.889G>C (p.Ala297Pro) | Cornelia de Lange syndrome 5 [RCV003650288] | uncertain significance | X | 72464580 | 72464580 | Human | 1 | name |
| 405233742 | CV3158004 | single nucleotide variant | NM_018486.3(HDAC8):c.499C>T (p.Arg167Trp) | Cornelia de Lange syndrome 5 [RCV003865760] | likely benign | X | 72495207 | 72495207 | Human | 1 | name |
| 405291328 | CV3222315 | single nucleotide variant | NM_018486.3(HDAC8):c.943T>A (p.Trp315Arg) | Cornelia de Lange syndrome 5 [RCV003985197] | likely pathogenic | X | 72462066 | 72462066 | Human | 1 | name |
| 405746015 | CV3226342 | single nucleotide variant | NM_018486.3(HDAC8):c.854G>T (p.Gly285Val) | Cornelia de Lange syndrome 5 [RCV003991333] | uncertain significance | X | 72464615 | 72464615 | Human | 1 | name |
| 405690517 | CV3227405 | single nucleotide variant | NM_018486.3(HDAC8):c.331T>C (p.Tyr111His) | Cornelia de Lange syndrome 5 [RCV003991749] | uncertain significance | X | 72567995 | 72567995 | Human | 1 | name |
| 408392444 | CV3519475 | single nucleotide variant | NM_018486.3(HDAC8):c.983C>T (p.Ser328Phe) | not provided [RCV004763771] | uncertain significance | X | 72462026 | 72462026 | Human | | name |
| 408390764 | CV3521004 | single nucleotide variant | NM_018486.3(HDAC8):c.625C>G (p.Pro209Ala) | not provided [RCV004762826] | uncertain significance | X | 72490932 | 72490932 | Human | | name |
| 408391256 | CV3521268 | single nucleotide variant | NM_018486.3(HDAC8):c.574A>G (p.Thr192Ala) | not provided [RCV004763090] | uncertain significance | X | 72490983 | 72490983 | Human | | name |
| 408393529 | CV3526177 | single nucleotide variant | NM_018486.3(HDAC8):c.512G>A (p.Arg171His) | Cornelia de Lange syndrome 5 [RCV004771609] | uncertain significance | X | 72495194 | 72495194 | Human | 1 | name |
| 596930973 | CV3529815 | single nucleotide variant | NM_018486.3(HDAC8):c.815A>G (p.Asp272Gly) | not provided [RCV004780865] | uncertain significance | X | 72464654 | 72464654 | Human | | name |
| 596922416 | CV3537179 | single nucleotide variant | NM_018486.3(HDAC8):c.839C>T (p.Thr280Ile) | not provided [RCV004786175] | likely pathogenic | X | 72464630 | 72464630 | Human | | name |
| 596927553 | CV3541125 | single nucleotide variant | NM_018486.3(HDAC8):c.895C>T (p.Leu299Phe) | Cornelia de Lange syndrome 5 [RCV004796996] | uncertain significance | X | 72464574 | 72464574 | Human | 1 | name |
| 596925061 | CV3541806 | single nucleotide variant | NM_018486.3(HDAC8):c.814G>A (p.Asp272Asn) | Cornelia de Lange syndrome 5 [RCV004795517] | uncertain significance | X | 72464655 | 72464655 | Human | 1 | name |
| 596925133 | CV3541843 | single nucleotide variant | NM_018486.3(HDAC8):c.596C>T (p.Ser199Phe) | Cornelia de Lange syndrome 5 [RCV004795555] | likely pathogenic | X | 72490961 | 72490961 | Human | 1 | name |
| 12742383 | CV360657 | single nucleotide variant | NM_018486.3(HDAC8):c.419G>T (p.Gly140Val) | not provided [RCV000413537] | likely pathogenic | X | 72567907 | 72567907 | Human | | name |
| 12742061 | CV360706 | single nucleotide variant | NM_018486.3(HDAC8):c.595T>A (p.Ser199Thr) | not provided [RCV000412785] | likely pathogenic | X | 72490962 | 72490962 | Human | | name |
| 12741869 | CV361252 | single nucleotide variant | NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly) | Cornelia de Lange syndrome 5 [RCV000415301] | likely pathogenic | X | 72495179 | 72495179 | Human | 1 | name |
| 597663550 | CV3679141 | single nucleotide variant | NM_018486.3(HDAC8):c.922C>T (p.Leu308Phe) | Cornelia de Lange syndrome 5 [RCV005110340]|Inborn genetic diseases [RCV004977918] | uncertain significance | X | 72462087 | 72462087 | Human | 2 | name |
| 597941294 | CV3769149 | single nucleotide variant | NM_018486.3(HDAC8):c.410G>T (p.Trp137Leu) | Cornelia de Lange syndrome 5 [RCV005118644] | uncertain significance | X | 72567916 | 72567916 | Human | 1 | name |
| 597948934 | CV3818442 | single nucleotide variant | NM_018486.3(HDAC8):c.772A>G (p.Lys258Glu) | Cornelia de Lange syndrome 5 [RCV005160703]|not provided [RCV005412724] | uncertain significance | X | 72464697 | 72464697 | Human | 1 | name |
| 616935932 | CV4015920 | single nucleotide variant | NM_018486.3(HDAC8):c.624C>G (p.Phe208Leu) | not provided [RCV005414784] | uncertain significance | X | 72490933 | 72490933 | Human | | name |
| 617149327 | CV4017486 | single nucleotide variant | NM_018486.3(HDAC8):c.320G>A (p.Gly107Glu) | not provided [RCV005417144] | uncertain significance | X | 72568006 | 72568006 | Human | | name |
| 12913756 | CV422516 | single nucleotide variant | NM_018486.3(HDAC8):c.635G>T (p.Gly212Val) | not provided [RCV000494222] | likely pathogenic | X | 72489035 | 72489035 | Human | | name |
| 13462134 | CV439701 | single nucleotide variant | NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter) | Cornelia de Lange syndrome 5 [RCV000515541] | pathogenic | X | 72495184 | 72495184 | Human | 1 | name |
| 8604331 | CV48309 | single nucleotide variant | NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) | Cornelia de Lange syndrome 5 [RCV000032915]|Inborn genetic diseases [RCV005348061]|not provided [RCV000480167] | pathogenic | X | 72495216 | 72495216 | Human | 2 | name |
| 8604332 | CV48310 | single nucleotide variant | NM_018486.3(HDAC8):c.539A>G (p.His180Arg) | Cornelia de Lange syndrome 5 [RCV000032916] | pathogenic | X | 72495167 | 72495167 | Human | 1 | name |
| 8604333 | CV48311 | single nucleotide variant | NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) | Cornelia de Lange syndrome 5 [RCV000032917]|Inborn genetic diseases [RCV000624803]|not provided [RCV002264910] | pathogenic|likely pathogenic | X | 72462077 | 72462077 | Human | 2 | name |
| 8604334 | CV48312 | single nucleotide variant | NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) | Cornelia de Lange syndrome 5 [RCV000032918]|Inborn genetic diseases [RCV002381278]|Intellectual disability [RCV001030829]|not provided [RCV001588839]|not specified [RCV000211117] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | X | 72462051 | 72462051 | Human | 4 | name |
| 13794836 | CV513841 | single nucleotide variant | NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) | Cornelia de Lange syndrome 1 [RCV001813791]|Cornelia de Lange syndrome 5 [RCV000680271] | pathogenic | X | 72462072 | 72462072 | Human | 2 | name |
| 13794834 | CV513842 | single nucleotide variant | NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg) | Cornelia de Lange syndrome 5 [RCV000680270] | likely pathogenic | X | 72464676 | 72464676 | Human | 1 | name |
| 13794831 | CV513843 | single nucleotide variant | NM_018486.3(HDAC8):c.584T>A (p.Val195Asp) | Cornelia de Lange syndrome 5 [RCV000680269] | likely pathogenic | X | 72490973 | 72490973 | Human | 1 | name |
| 13794469 | CV513844 | single nucleotide variant | NM_018486.3(HDAC8):c.418G>A (p.Gly140Arg) | Cornelia de Lange syndrome 5 [RCV000679807] | uncertain significance | X | 72567908 | 72567908 | Human | 1 | name |
| 13612155 | CV514145 | single nucleotide variant | NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) | Atrial septal defect [RCV000626947] | likely pathogenic | X | 72490973 | 72490973 | Human | 2 | name |
| 13611422 | CV514816 | single nucleotide variant | NM_018486.3(HDAC8):c.951C>A (p.Tyr317Ter) | not provided [RCV000627355] | pathogenic | X | 72462058 | 72462058 | Human | | name |
| 13796155 | CV551800 | single nucleotide variant | NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro) | Cornelia de Lange syndrome 5 [RCV000678911] | likely pathogenic | X | 72464673 | 72464673 | Human | 1 | name |
| 13828972 | CV580927 | single nucleotide variant | NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln) | Cornelia de Lange syndrome 5 [RCV002060910]|Inborn genetic diseases [RCV002314390] | benign|likely benign|uncertain significance | X | 72495215 | 72495215 | Human | 2 | name |
| 14396315 | CV612125 | single nucleotide variant | NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) | Cornelia de Lange syndrome 5 [RCV000761240]|not provided [RCV001662805] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | X | 72489003 | 72489003 | Human | 1 | name |
| 14978310 | CV677475 | single nucleotide variant | NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser) | Cornelia de Lange syndrome 5 [RCV000850493] | likely pathogenic | X | 72464700 | 72464700 | Human | 1 | name |
| 14979449 | CV678952 | single nucleotide variant | NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) | Intellectual disability [RCV000851522] | likely pathogenic | X | 72489017 | 72489017 | Human | 2 | name |
| 14979408 | CV678953 | single nucleotide variant | NM_018486.3(HDAC8):c.562G>A (p.Ala188Thr) | Intellectual disability [RCV000851491]|not provided [RCV001269655] | pathogenic|likely pathogenic | X | 72490995 | 72490995 | Human | 2 | name |
| 14979406 | CV678954 | single nucleotide variant | NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp) | Intellectual disability [RCV000851490]|not provided [RCV001281637] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | X | 72495240 | 72495240 | Human | 2 | name |
| 21068965 | CV788953 | single nucleotide variant | NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg) | Cornelia de Lange syndrome 5 [RCV000985185] | likely pathogenic | X | 72464610 | 72464610 | Human | 1 | name |
| 26902614 | CV857661 | single nucleotide variant | NM_018486.3(HDAC8):c.799G>A (p.Asp267Asn) | Cornelia de Lange syndrome 5 [RCV001089516] | likely pathogenic | X | 72464670 | 72464670 | Human | 1 | name |
| 34891162 | CV906044 | single nucleotide variant | NM_018486.3(HDAC8):c.433A>G (p.Lys145Glu) | not specified [RCV001174817] | uncertain significance | X | 72567893 | 72567893 | Human | | name |
| 34896082 | CV917373 | single nucleotide variant | NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter) | Cornelia de Lange syndrome 5 [RCV001193351] | likely pathogenic | X | 72488950 | 72488950 | Human | 1 | name |
| 38597610 | CV964002 | single nucleotide variant | NM_018486.3(HDAC8):c.302A>G (p.Asp101Gly) | Cornelia de Lange syndrome 5 [RCV001252510] | likely pathogenic | X | 72568024 | 72568024 | Human | 1 | name |
| 40814484 | CV969463 | single nucleotide variant | NM_018486.3(HDAC8):c.463C>T (p.Leu155Phe) | Intellectual disability [RCV001260721] | uncertain significance | X | 72495243 | 72495243 | Human | 2 | name |
| 8574056 | CV97521 | single nucleotide variant | NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) | Cornelia de Lange syndrome 5 [RCV000077779] | pathogenic|conflicting interpretations of pathogenicity | X | 72567970 | 72567970 | Human | 1 | name |
| 40904223 | CV975723 | single nucleotide variant | NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg) | Cornelia de Lange syndrome 5 [RCV001268970] | pathogenic | X | 72567970 | 72567970 | Human | 1 | name |
| 151785804 | CV1495345 | single nucleotide variant | NM_018486.3(HDAC8):c.1052G>C (p.Ser351Thr) | Cornelia de Lange syndrome 5 [RCV002026699] | likely benign|uncertain significance | X | 72351792 | 72351792 | Human | 1 | name |
| 152149622 | CV1555665 | single nucleotide variant | NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln) | Cornelia de Lange syndrome 5 [RCV002179245] | benign | X | 72351762 | 72351762 | Human | 1 | name |
| 155950329 | CV1879144 | single nucleotide variant | NM_018486.3(HDAC8):c.1126G>A (p.Val376Met) | Cornelia de Lange syndrome 5 [RCV003074111]|Inborn genetic diseases [RCV003367965] | uncertain significance | X | 72330062 | 72330062 | Human | 2 | name |
| 156074002 | CV1904027 | single nucleotide variant | NM_018486.3(HDAC8):c.1105A>G (p.Ile369Val) | Cornelia de Lange syndrome 5 [RCV002591358]|Inborn genetic diseases [RCV002574407] | likely benign | X | 72351739 | 72351739 | Human | 2 | name |
| 155954679 | CV2086882 | single nucleotide variant | NM_018486.3(HDAC8):c.1058G>A (p.Arg353Gln) | Cornelia de Lange syndrome 5 [RCV002862534] | likely benign | X | 72351786 | 72351786 | Human | 1 | name |
| 401749329 | CV2706514 | single nucleotide variant | NM_018486.3(HDAC8):c.1046C>T (p.Thr349Met) | Cornelia de Lange syndrome 5 [RCV005102625]|Inborn genetic diseases [RCV003242713] | likely benign | X | 72351798 | 72351798 | Human | 2 | name |
| 405143853 | CV2880435 | single nucleotide variant | NM_018486.3(HDAC8):c.1066C>T (p.Arg356Cys) | Cornelia de Lange syndrome 5 [RCV003537786] | likely benign | X | 72351778 | 72351778 | Human | 1 | name |
| 405013655 | CV2950743 | single nucleotide variant | NM_018486.3(HDAC8):c.1111G>A (p.Gly371Arg) | Cornelia de Lange syndrome 5 [RCV003649581] | uncertain significance | X | 72351733 | 72351733 | Human | 1 | name |
| 405015751 | CV2966351 | single nucleotide variant | NM_018486.3(HDAC8):c.1117C>A (p.Leu373Met) | Cornelia de Lange syndrome 5 [RCV003649804] | uncertain significance | X | 72330071 | 72330071 | Human | 1 | name |
| 405032001 | CV3000135 | single nucleotide variant | NM_018486.3(HDAC8):c.1085T>C (p.Ile362Thr) | Cornelia de Lange syndrome 5 [RCV003652369] | uncertain significance | X | 72351759 | 72351759 | Human | 1 | name |
| 408384853 | CV3520068 | single nucleotide variant | NM_018486.3(HDAC8):c.1063G>T (p.Asp355Tyr) | not provided [RCV004759889] | uncertain significance | X | 72351781 | 72351781 | Human | | name |
| 408385339 | CV3520122 | single nucleotide variant | NM_018486.3(HDAC8):c.1114A>G (p.Asn372Asp) | not provided [RCV004759943] | uncertain significance | X | 72330074 | 72330074 | Human | | name |
| 12849028 | CV379418 | single nucleotide variant | NM_018486.3(HDAC8):c.1037T>C (p.Leu346Pro) | not provided [RCV000422847] | likely pathogenic | X | 72351807 | 72351807 | Human | | name |
| 13211459 | CV426754 | single nucleotide variant | NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) | Cornelia de Lange syndrome 5 [RCV000497470] | pathogenic|likely pathogenic | X | 72351763 | 72351763 | Human | 1 | name |
| 13499064 | CV472203 | single nucleotide variant | NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) | Cornelia de Lange syndrome 5 [RCV000531363] | likely pathogenic | X | 72351825 | 72351825 | Human | 1 | name |
| 8604335 | CV48313 | single nucleotide variant | NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) | Cornelia de Lange syndrome 5 [RCV000032919] | pathogenic | X | 72462008 | 72462008 | Human | 1 | name |
| 21073745 | CV792498 | single nucleotide variant | NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys) | Cornelia de Lange syndrome 5 [RCV000990867]|not provided [RCV001759679] | uncertain significance | X | 72351825 | 72351825 | Human | 1 | name |
| 10408489 | CV209174 | microsatellite | NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) | Cornelia de Lange syndrome 5 [RCV000194427] | pathogenic|conflicting interpretations of pathogenicity | X | 72572084 | 72572087 | Human | | name |
| 13673996 | CV535678 | deletion | NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) | Cornelia de Lange syndrome 5 [RCV000656365] | pathogenic | X | 72572657 | 72572658 | Human | 1 | name |
| 153349807 | CV1693994 | deletion | NM_018486.3(HDAC8):c.581_582del (p.Lys194fs) | not provided [RCV002276228] | pathogenic | X | 72490975 | 72490976 | Human | | name |
| 13532196 | CV512750 | deletion | NM_018486.3(HDAC8):c.755_761del (p.Tyr252fs) | Inborn genetic diseases [RCV000623998] | pathogenic | X | 72464708 | 72464714 | Human | 1 | name |
| 40814485 | CV969464 | deletion | NM_018486.3(HDAC8):c.352_358del (p.Ala118fs) | Intellectual disability [RCV001260722] | pathogenic | X | 72567968 | 72567974 | Human | 2 | name |
| 9682568 | CV170174 | deletion | NM_018486.3(HDAC8):c.421_423del (p.Trp141del) | Cornelia de Lange syndrome 5 [RCV000146090] | uncertain significance | X | 72567903 | 72567905 | Human | 1 | name |
| 9682565 | CV170176 | deletion | NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer) | Cornelia de Lange syndrome 5 [RCV000146087] | pathogenic | X | 72572090 | 72572090 | Human | 1 | name |
| 150544435 | CV1313340 | deletion | NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer) | Cornelia de Lange syndrome 5 [RCV001783417] | pathogenic | X | 72572680 | 72572687 | Human | 1 | name |
| 155268955 | CV1705779 | deletion | NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del) | Cornelia de Lange syndrome 5 [RCV002286440] | likely pathogenic | X | 72462013 | 72462033 | Human | 1 | name |
| 156021341 | CV2111049 | duplication | NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro) | Cornelia de Lange syndrome 5 [RCV002909628]|not provided [RCV004725416] | benign|uncertain significance | X | 72572744 | 72572745 | Human | 1 | name |
| 11632434 | CV353914 | indel | NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer) | Cornelia de Lange syndrome 5 [RCV000408608] | likely pathogenic | X | 72464626 | 72464630 | Human | | name |
