| 150423118 | CV1182911 | single nucleotide variant | NM_006015.6(ARID1A):c.*5C>T | ARID1A-related disorder [RCV003910874]|not provided [RCV001554898] | likely benign | 1 | 26780761 | 26780761 | Human | 1 | name , alternate_id |
| 155802899 | CV1857838 | single nucleotide variant | NM_006015.6(ARID1A):c.*3G>A | not provided [RCV002461688] | uncertain significance | 1 | 26780759 | 26780759 | Human | | name |
| 405288622 | CV3193729 | single nucleotide variant | NM_006015.6(ARID1A):c.*2A>G | ARID1A-related disorder [RCV003982735] | likely benign | 1 | 26780758 | 26780758 | Human | | name , trait , alternate_id |
| 13215026 | CV427761 | single nucleotide variant | NM_006015.6(ARID1A):c.-7G>T | not specified [RCV000501996] | uncertain significance | 1 | 26696397 | 26696397 | Human | | name |
| 150427357 | CV1186180 | single nucleotide variant | NM_006015.6(ARID1A):c.*10G>T | not provided [RCV001560817] | likely benign | 1 | 26780766 | 26780766 | Human | | name |
| 150442362 | CV1204695 | single nucleotide variant | NM_006015.6(ARID1A):c.*37C>G | not provided [RCV001583802] | likely benign | 1 | 26780793 | 26780793 | Human | | name |
| 150464313 | CV1214920 | single nucleotide variant | NM_006015.6(ARID1A):c.-27C>T | not provided [RCV001613917] | benign | 1 | 26696377 | 26696377 | Human | | name |
| 150433267 | CV1216853 | single nucleotide variant | NM_006015.6(ARID1A):c.*25C>T | not provided [RCV001608755] | benign | 1 | 26780781 | 26780781 | Human | | name |
| 150476562 | CV1239898 | single nucleotide variant | NM_006015.6(ARID1A):c.*21C>T | not provided [RCV001652075] | benign | 1 | 26780777 | 26780777 | Human | | name |
| 150458742 | CV1248983 | single nucleotide variant | NM_006015.6(ARID1A):c.*37C>T | not provided [RCV001669160] | benign | 1 | 26780793 | 26780793 | Human | | name |
| 150483214 | CV1261747 | duplication | NM_006015.6(ARID1A):c.*25dup | not provided [RCV001686351] | benign | 1 | 26780772 | 26780773 | Human | | name |
| 150439608 | CV1266797 | single nucleotide variant | NM_006015.6(ARID1A):c.*23C>T | not provided [RCV001690232] | benign | 1 | 26780779 | 26780779 | Human | | name |
| 126743360 | CV1015711 | single nucleotide variant | NM_006015.6(ARID1A):c.3539+5G>A | Intellectual disability, autosomal dominant 14 [RCV001330184] | uncertain significance | 1 | 26772637 | 26772637 | Human | 1 | name |
| 127294125 | CV1162213 | single nucleotide variant | NM_006015.6(ARID1A):c.1803+5G>C | not provided [RCV001527345] | uncertain significance | 1 | 26731609 | 26731609 | Human | | name |
| 150410602 | CV1195889 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-7C>T | Intellectual disability, autosomal dominant 14 [RCV002260207]|not provided [RCV001573199]|not specified [RCV001821906] | benign|likely benign | 1 | 26773339 | 26773339 | Human | 1 | name |
| 150520253 | CV1289537 | single nucleotide variant | NM_006015.6(ARID1A):c.4101+1G>A | not provided [RCV001728182] | not provided | 1 | 26773899 | 26773899 | Human | | name |
| 150532123 | CV1292272 | single nucleotide variant | NM_006015.6(ARID1A):c.4101+1G>C | not provided [RCV001733855] | not provided | 1 | 26773899 | 26773899 | Human | | name |
| 150536247 | CV1298723 | duplication | NM_006015.6(ARID1A):c.4994-4dup | not provided [RCV001760871] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26775570 | 26775571 | Human | | name |
| 151234043 | CV1318070 | single nucleotide variant | NM_006015.6(ARID1A):c.1803+1G>C | not provided [RCV001789725] | not provided | 1 | 26731605 | 26731605 | Human | | name |
| 151233205 | CV1320144 | single nucleotide variant | NM_006015.6(ARID1A):c.4994-2A>T | not provided [RCV001799534] | not provided | 1 | 26775575 | 26775575 | Human | | name |
| 151233208 | CV1320145 | single nucleotide variant | NM_006015.6(ARID1A):c.3539+1G>A | not provided [RCV001799535] | not provided | 1 | 26772633 | 26772633 | Human | | name |
| 151853591 | CV1459271 | single nucleotide variant | NM_006015.6(ARID1A):c.5125-5T>C | not provided [RCV002016908] | benign|uncertain significance | 1 | 26779018 | 26779018 | Human | | name |
| 155644353 | CV1708628 | single nucleotide variant | NM_006015.6(ARID1A):c.2878+5G>A | Intellectual disability, autosomal dominant 14 [RCV002291161] | uncertain significance | 1 | 26766371 | 26766371 | Human | 1 | name |
| 155798643 | CV1862102 | single nucleotide variant | NM_006015.6(ARID1A):c.1350+1G>T | Intellectual disability, autosomal dominant 14 [RCV002471505] | uncertain significance | 1 | 26729864 | 26729864 | Human | 1 | name |
| 156041278 | CV1891057 | single nucleotide variant | NM_006015.6(ARID1A):c.3866+7A>T | not provided [RCV003078527] | likely benign | 1 | 26773503 | 26773503 | Human | | name |
| 155963761 | CV1952233 | single nucleotide variant | NM_006015.6(ARID1A):c.2989-3C>G | not provided [RCV002512503] | not provided | 1 | 26767787 | 26767787 | Human | | name |
| 156223304 | CV1960380 | single nucleotide variant | NM_006015.6(ARID1A):c.1921-4C>T | not provided [RCV002575609] | likely benign | 1 | 26760852 | 26760852 | Human | | name |
| 156199238 | CV1968065 | single nucleotide variant | NM_006015.6(ARID1A):c.2251+7G>T | not provided [RCV002625669] | likely benign | 1 | 26761480 | 26761480 | Human | | name |
| 156388825 | CV1996036 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-8A>G | not provided [RCV002654198] | likely benign | 1 | 26773338 | 26773338 | Human | | name |
| 156112422 | CV1998583 | single nucleotide variant | NM_006015.6(ARID1A):c.2251+7G>C | not provided [RCV002639995] | likely benign | 1 | 26761480 | 26761480 | Human | | name |
| 155993859 | CV2023453 | single nucleotide variant | NM_006015.6(ARID1A):c.2420-9C>T | not provided [RCV002755870] | likely benign | 1 | 26762964 | 26762964 | Human | | name |
| 156012910 | CV2103762 | single nucleotide variant | NM_006015.6(ARID1A):c.2161+6C>G | not provided [RCV002909209] | benign|uncertain significance | 1 | 26761102 | 26761102 | Human | | name |
| 243063453 | CV2411773 | single nucleotide variant | NM_006015.6(ARID1A):c.2988+3A>T | Intellectual disability, autosomal dominant 14 [RCV003141496] | uncertain significance | 1 | 26766569 | 26766569 | Human | 1 | name |
| 11632995 | CV264021 | single nucleotide variant | NM_006015.6(ARID1A):c.2988+1G>A | not provided [RCV000305102] | pathogenic | 1 | 26766567 | 26766567 | Human | | name |
| 329953919 | CV2669261 | single nucleotide variant | NM_006015.6(ARID1A):c.3715+4A>T | not provided [RCV003231767] | uncertain significance | 1 | 26772991 | 26772991 | Human | | name |
| 402514215 | CV2855510 | single nucleotide variant | NM_006015.6(ARID1A):c.4101+9G>C | not provided [RCV003547269] | likely benign | 1 | 26773907 | 26773907 | Human | | name |
| 405094323 | CV2874698 | single nucleotide variant | NM_006015.6(ARID1A):c.2733-4T>C | not provided [RCV003550133] | likely benign | 1 | 26766217 | 26766217 | Human | | name |
| 405162062 | CV2960370 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-3C>T | not provided [RCV003674755] | benign|uncertain significance | 1 | 26773343 | 26773343 | Human | | name |
| 405241260 | CV2970714 | single nucleotide variant | NM_006015.6(ARID1A):c.4102-7G>A | not provided [RCV003684091] | likely benign | 1 | 26774322 | 26774322 | Human | | name |
| 405085859 | CV3047742 | single nucleotide variant | NM_006015.6(ARID1A):c.5125-6T>C | ARID1A-related disorder [RCV003939169]|not provided [RCV003717465] | likely benign | 1 | 26779017 | 26779017 | Human | 1 | name , alternate_id |
| 405156519 | CV3064981 | single nucleotide variant | NM_006015.6(ARID1A):c.4005-7C>A | not provided [RCV003726793] | likely benign | 1 | 26773795 | 26773795 | Human | | name |
| 405230321 | CV3070178 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-6G>A | not provided [RCV003734785] | likely benign | 1 | 26773340 | 26773340 | Human | | name |
| 405243493 | CV3071893 | single nucleotide variant | NM_006015.6(ARID1A):c.1803+9T>A | not provided [RCV003737812] | likely benign | 1 | 26731613 | 26731613 | Human | | name |
| 405113857 | CV3115359 | single nucleotide variant | NM_006015.6(ARID1A):c.3407-8G>C | not provided [RCV003814041] | likely benign | 1 | 26772492 | 26772492 | Human | | name |
| 405194270 | CV3167642 | deletion | NM_006015.6(ARID1A):c.4101+6del | not provided [RCV003860048] | uncertain significance | 1 | 26773903 | 26773903 | Human | | name |
| 405286050 | CV3218688 | single nucleotide variant | NM_006015.6(ARID1A):c.3866+8T>A | ARID1A-related disorder [RCV003959414] | likely benign | 1 | 26773504 | 26773504 | Human | | name , trait , alternate_id |
| 596925157 | CV3541853 | single nucleotide variant | NM_006015.6(ARID1A):c.3198+2T>A | Intellectual disability, autosomal dominant 14 [RCV004795566] | likely pathogenic | 1 | 26768001 | 26768001 | Human | 1 | name |
| 596947367 | CV3548920 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-4T>C | not provided [RCV004811244] | uncertain significance | 1 | 26773342 | 26773342 | Human | | name |
| 12835826 | CV365101 | single nucleotide variant | NM_006015.6(ARID1A):c.3715+5C>T | not provided [RCV000422355] | uncertain significance | 1 | 26772992 | 26772992 | Human | | name |
| 597865316 | CV3742306 | single nucleotide variant | NM_006015.6(ARID1A):c.2988+6G>A | not provided [RCV005067922] | uncertain significance | 1 | 26766572 | 26766572 | Human | | name |
| 597874040 | CV3775436 | single nucleotide variant | NM_006015.6(ARID1A):c.2161+7T>C | not provided [RCV005123166] | likely benign | 1 | 26761103 | 26761103 | Human | | name |
| 597941122 | CV3785717 | single nucleotide variant | NM_006015.6(ARID1A):c.5124+5G>T | not provided [RCV005133609] | uncertain significance | 1 | 26775712 | 26775712 | Human | | name |
| 597975912 | CV3796006 | single nucleotide variant | NM_006015.6(ARID1A):c.2420-8C>T | not provided [RCV005144837] | likely benign | 1 | 26762965 | 26762965 | Human | | name |
| 597870534 | CV3799822 | deletion | NM_006015.6(ARID1A):c.3540-7del | not provided [RCV005148236] | likely benign | 1 | 26772805 | 26772805 | Human | | name |
| 597879217 | CV3813794 | single nucleotide variant | NM_006015.6(ARID1A):c.3867-6G>A | not provided [RCV005149536] | likely benign | 1 | 26773574 | 26773574 | Human | | name |
| 597849657 | CV3824463 | single nucleotide variant | NM_006015.6(ARID1A):c.1350+5A>T | not provided [RCV005173502] | uncertain significance | 1 | 26729868 | 26729868 | Human | | name |
| 597840405 | CV3825314 | single nucleotide variant | NM_006015.6(ARID1A):c.4005-7C>G | not provided [RCV005171997] | likely benign | 1 | 26773795 | 26773795 | Human | | name |
| 598126198 | CV3886130 | single nucleotide variant | NM_006015.6(ARID1A):c.2419+6T>C | not provided [RCV005241933] | uncertain significance | 1 | 26762325 | 26762325 | Human | | name |
| 616937472 | CV4013461 | single nucleotide variant | NM_006015.6(ARID1A):c.3198+5G>A | Intellectual disability, autosomal dominant 14 [RCV005411024] | likely pathogenic | 1 | 26768004 | 26768004 | Human | 1 | name |
| 12894003 | CV405146 | single nucleotide variant | NM_006015.6(ARID1A):c.1920+5G>A | Intellectual disability, autosomal dominant 14 [RCV005230950]|not provided [RCV000481111] | likely pathogenic | 1 | 26732797 | 26732797 | Human | 1 | name |
| 13216607 | CV427781 | single nucleotide variant | NM_006015.6(ARID1A):c.1803+9T>C | Intellectual disability, autosomal dominant 14 [RCV002506219]|not provided [RCV002524154]|not specified [RCV000503969] | likely benign | 1 | 26731613 | 26731613 | Human | 1 | name |
| 14698220 | CV623187 | single nucleotide variant | NM_006015.6(ARID1A):c.4101+1G>T | not provided [RCV000786783] | not provided | 1 | 26773899 | 26773899 | Human | | name |
| 15163962 | CV777125 | single nucleotide variant | NM_006015.6(ARID1A):c.1137+7A>T | not provided [RCV000948220] | likely benign | 1 | 26697547 | 26697547 | Human | | name |
| 21404023 | CV800921 | single nucleotide variant | NM_006015.6(ARID1A):c.2879-1G>A | Intellectual disability, autosomal dominant 14 [RCV001003475] | pathogenic | 1 | 26766456 | 26766456 | Human | 1 | name |
| 38597682 | CV964646 | single nucleotide variant | NM_006015.6(ARID1A):c.4102-1G>C | Intellectual disability, autosomal dominant 14 [RCV001252992] | likely pathogenic | 1 | 26774328 | 26774328 | Human | 1 | name |
| 40814709 | CV970685 | single nucleotide variant | NM_006015.6(ARID1A):c.4004+5G>A | Intellectual disability, autosomal dominant 14 [RCV001262225] | uncertain significance | 1 | 26773722 | 26773722 | Human | 1 | name |
| 40904246 | CV976642 | duplication | NM_006015.6(ARID1A):c.3198+2dup | Intellectual disability, autosomal dominant 14 [RCV001270408] | likely pathogenic | 1 | 26768000 | 26768001 | Human | 1 | name |
| 150427541 | CV1186174 | single nucleotide variant | NM_006015.6(ARID1A):c.1350+25G>C | not provided [RCV001561060] | likely benign | 1 | 26729888 | 26729888 | Human | | name |
| 150426475 | CV1186176 | single nucleotide variant | NM_006015.6(ARID1A):c.3199-25C>T | ARID1A-related disorder [RCV003966189]|not provided [RCV001559624] | likely benign | 1 | 26771094 | 26771094 | Human | 1 | name , alternate_id |
| 150429267 | CV1186178 | single nucleotide variant | NM_006015.6(ARID1A):c.4993+22G>C | not provided [RCV001563371] | likely benign | 1 | 26775242 | 26775242 | Human | | name |
| 150417047 | CV1196601 | single nucleotide variant | NM_006015.6(ARID1A):c.3199-74G>C | not provided [RCV001576135] | likely benign | 1 | 26771045 | 26771045 | Human | | name |
| 150466246 | CV1201213 | single nucleotide variant | NM_006015.6(ARID1A):c.4004+35C>T | not provided [RCV001587693] | likely benign | 1 | 26773752 | 26773752 | Human | | name |
| 150475108 | CV1217900 | single nucleotide variant | NM_006015.6(ARID1A):c.1920+51A>C | not provided [RCV001615911] | benign | 1 | 26732843 | 26732843 | Human | | name |
| 150479846 | CV1221855 | single nucleotide variant | NM_006015.6(ARID1A):c.2252-97A>T | Intellectual disability, autosomal dominant 14 [RCV002260231]|not provided [RCV001616651] | benign | 1 | 26762055 | 26762055 | Human | 1 | name |
| 150511012 | CV1229325 | single nucleotide variant | NM_006015.6(ARID1A):c.4994-20G>C | Intellectual disability, autosomal dominant 14 [RCV002260235]|not provided [RCV001637253] | benign | 1 | 26775557 | 26775557 | Human | 1 | name |
| 150433362 | CV1230501 | single nucleotide variant | NM_006015.6(ARID1A):c.1920+51A>G | not provided [RCV001643446] | benign | 1 | 26732843 | 26732843 | Human | | name |
| 150499603 | CV1235757 | single nucleotide variant | NM_006015.6(ARID1A):c.2161+49A>G | not provided [RCV001656440] | benign | 1 | 26761145 | 26761145 | Human | | name |
| 150496925 | CV1236937 | single nucleotide variant | NM_006015.6(ARID1A):c.2988+36G>A | Intellectual disability, autosomal dominant 14 [RCV002260254]|not provided [RCV001656001] | benign | 1 | 26766602 | 26766602 | Human | 1 | name |
| 150507587 | CV1244603 | single nucleotide variant | NM_006015.6(ARID1A):c.3198+10C>T | not provided [RCV001658852] | likely benign | 1 | 26768009 | 26768009 | Human | | name |
| 150463358 | CV1253792 | single nucleotide variant | NM_006015.6(ARID1A):c.4101+42C>T | not provided [RCV001669834] | benign | 1 | 26773940 | 26773940 | Human | | name |
| 150452620 | CV1254987 | single nucleotide variant | NM_006015.6(ARID1A):c.2420-18G>C | Intellectual disability, autosomal dominant 14 [RCV002260294]|not provided [RCV001668046] | benign | 1 | 26762955 | 26762955 | Human | 1 | name |
| 150474021 | CV1262999 | single nucleotide variant | NM_006015.6(ARID1A):c.1351-22A>C | Intellectual disability, autosomal dominant 14 [RCV002260318]|not provided [RCV001684815] | benign | 1 | 26731130 | 26731130 | Human | 1 | name |
| 150490918 | CV1267692 | single nucleotide variant | NM_006015.6(ARID1A):c.3407-45A>C | not provided [RCV001687716] | benign | 1 | 26772455 | 26772455 | Human | | name |
| 150442024 | CV1287657 | single nucleotide variant | NM_006015.6(ARID1A):c.3199-95A>G | Intellectual disability, autosomal dominant 14 [RCV002260400]|not provided [RCV001725377] | benign | 1 | 26771024 | 26771024 | Human | 1 | name |
| 150534232 | CV1293383 | single nucleotide variant | NM_006015.6(ARID1A):c.3199-27C>T | not provided [RCV001756604] | benign | 1 | 26771092 | 26771092 | Human | | name |
| 152051139 | CV1523409 | single nucleotide variant | NM_006015.6(ARID1A):c.3540-12C>T | not provided [RCV002127267] | benign | 1 | 26772800 | 26772800 | Human | | name |
| 152052051 | CV1523538 | duplication | NM_006015.6(ARID1A):c.1137+18dup | not provided [RCV002127363] | benign | 1 | 26697554 | 26697555 | Human | | name |
| 152127195 | CV1533958 | single nucleotide variant | NM_006015.6(ARID1A):c.3539+16G>A | not provided [RCV002136468] | likely benign | 1 | 26772648 | 26772648 | Human | | name |
| 152084519 | CV1554910 | single nucleotide variant | NM_006015.6(ARID1A):c.2420-10C>A | not provided [RCV002211864] | likely benign | 1 | 26762963 | 26762963 | Human | | name |
| 153000739 | CV1685612 | single nucleotide variant | NM_006015.6(ARID1A):c.1351-82C>T | Intellectual disability, autosomal dominant 14 [RCV002260430] | benign | 1 | 26731070 | 26731070 | Human | 1 | name |
| 156289227 | CV1961366 | single nucleotide variant | NM_006015.6(ARID1A):c.2732+18G>C | not provided [RCV002577761] | likely benign | 1 | 26763303 | 26763303 | Human | | name |
| 156373863 | CV1963156 | single nucleotide variant | NM_006015.6(ARID1A):c.4004+20G>A | not provided [RCV002582636] | likely benign | 1 | 26773737 | 26773737 | Human | | name |
| 156288106 | CV1964737 | single nucleotide variant | NM_006015.6(ARID1A):c.1350+13T>C | not provided [RCV002577720] | likely benign | 1 | 26729876 | 26729876 | Human | | name |
| 156353037 | CV1965609 | single nucleotide variant | NM_006015.6(ARID1A):c.2733-16C>G | not provided [RCV002581197] | likely benign | 1 | 26766205 | 26766205 | Human | | name |
| 156328474 | CV1969772 | single nucleotide variant | NM_006015.6(ARID1A):c.3406+18G>A | not provided [RCV002600658] | likely benign | 1 | 26771344 | 26771344 | Human | | name |
| 156419608 | CV1977666 | single nucleotide variant | NM_006015.6(ARID1A):c.2733-14A>G | not provided [RCV002612847] | likely benign | 1 | 26766207 | 26766207 | Human | | name |
| 156401124 | CV1991998 | single nucleotide variant | NM_006015.6(ARID1A):c.3866+14C>T | not provided [RCV002605615] | likely benign | 1 | 26773510 | 26773510 | Human | | name |
| 156185439 | CV1997753 | single nucleotide variant | NM_006015.6(ARID1A):c.1921-13A>T | not provided [RCV002643155] | likely benign | 1 | 26760843 | 26760843 | Human | | name |
| 156378040 | CV2000529 | single nucleotide variant | NM_006015.6(ARID1A):c.2879-11C>A | not provided [RCV002653447] | likely benign | 1 | 26766446 | 26766446 | Human | | name |
| 156094844 | CV2010509 | single nucleotide variant | NM_006015.6(ARID1A):c.3866+17C>T | not provided [RCV002695077] | likely benign | 1 | 26773513 | 26773513 | Human | | name |
| 155985377 | CV2030391 | single nucleotide variant | NM_006015.6(ARID1A):c.2733-12C>T | not provided [RCV002755515] | likely benign | 1 | 26766209 | 26766209 | Human | | name |
| 156144029 | CV2037210 | single nucleotide variant | NM_006015.6(ARID1A):c.2252-14C>G | not provided [RCV002786623] | likely benign | 1 | 26762138 | 26762138 | Human | | name |
| 155910676 | CV2041287 | single nucleotide variant | NM_006015.6(ARID1A):c.4101+14C>T | not provided [RCV002771559] | likely benign | 1 | 26773912 | 26773912 | Human | | name |
| 156258353 | CV2041358 | single nucleotide variant | NM_006015.6(ARID1A):c.2162-19T>C | not provided [RCV002806242] | likely benign | 1 | 26761365 | 26761365 | Human | | name |
| 156336278 | CV2168432 | single nucleotide variant | NM_006015.6(ARID1A):c.4101+19A>C | not provided [RCV003030041] | likely benign | 1 | 26773917 | 26773917 | Human | | name |
| 156206464 | CV2179353 | single nucleotide variant | NM_006015.6(ARID1A):c.5125-17G>T | not provided [RCV003024643] | likely benign | 1 | 26779006 | 26779006 | Human | | name |
| 156327030 | CV2184443 | single nucleotide variant | NM_006015.6(ARID1A):c.1803+11C>T | not provided [RCV003046990] | likely benign | 1 | 26731615 | 26731615 | Human | | name |
| 402477533 | CV2914368 | single nucleotide variant | NM_006015.6(ARID1A):c.5125-17G>C | not provided [RCV003571677] | likely benign | 1 | 26779006 | 26779006 | Human | | name |
| 402486792 | CV2928424 | single nucleotide variant | NM_006015.6(ARID1A):c.3867-17T>G | not provided [RCV003572604] | likely benign | 1 | 26773563 | 26773563 | Human | | name |
| 402505066 | CV2947555 | single nucleotide variant | NM_006015.6(ARID1A):c.3407-16G>T | not provided [RCV003661980] | likely benign | 1 | 26772484 | 26772484 | Human | | name |
| 405118379 | CV2949773 | single nucleotide variant | NM_006015.6(ARID1A):c.1803+20T>C | not provided [RCV003667171] | likely benign | 1 | 26731624 | 26731624 | Human | | name |
| 405231242 | CV2964597 | single nucleotide variant | NM_006015.6(ARID1A):c.2988+17T>C | not provided [RCV003682293] | likely benign | 1 | 26766583 | 26766583 | Human | | name |
| 405242624 | CV2967384 | single nucleotide variant | NM_006015.6(ARID1A):c.1351-19A>G | not provided [RCV003684398] | likely benign | 1 | 26731133 | 26731133 | Human | | name |
| 405182297 | CV3024455 | single nucleotide variant | NM_006015.6(ARID1A):c.3406+15A>G | not provided [RCV003705657] | likely benign | 1 | 26771341 | 26771341 | Human | | name |
| 405181038 | CV3119913 | single nucleotide variant | NM_006015.6(ARID1A):c.3539+18G>A | not provided [RCV003820006] | likely benign | 1 | 26772650 | 26772650 | Human | | name |
| 405214051 | CV3128334 | single nucleotide variant | NM_006015.6(ARID1A):c.3198+11G>A | not provided [RCV003823758] | likely benign | 1 | 26768010 | 26768010 | Human | | name |
| 405126229 | CV3132769 | single nucleotide variant | NM_006015.6(ARID1A):c.2420-16C>A | not provided [RCV003837932] | likely benign | 1 | 26762957 | 26762957 | Human | | name |
| 405091523 | CV3134504 | single nucleotide variant | NM_006015.6(ARID1A):c.3715+10C>G | not provided [RCV003834850] | likely benign | 1 | 26772997 | 26772997 | Human | | name |
| 405065290 | CV3139768 | single nucleotide variant | NM_006015.6(ARID1A):c.3406+17C>T | not provided [RCV003833115] | likely benign | 1 | 26771343 | 26771343 | Human | | name |
| 405209837 | CV3145911 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-10C>T | not provided [RCV003845641] | likely benign | 1 | 26773336 | 26773336 | Human | | name |
| 405074961 | CV3156114 | single nucleotide variant | NM_006015.6(ARID1A):c.2878+19C>T | not provided [RCV003851172] | likely benign | 1 | 26766385 | 26766385 | Human | | name |
| 404991249 | CV3176290 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-20G>A | not provided [RCV003881615] | likely benign | 1 | 26773326 | 26773326 | Human | | name |
| 404987452 | CV3179785 | single nucleotide variant | NM_006015.6(ARID1A):c.2252-18G>A | not provided [RCV003881262] | likely benign | 1 | 26762134 | 26762134 | Human | | name |
| 405249898 | CV3180579 | single nucleotide variant | NM_006015.6(ARID1A):c.2251+13G>A | not provided [RCV003869856] | likely benign | 1 | 26761486 | 26761486 | Human | | name |
| 405250200 | CV3180665 | single nucleotide variant | NM_006015.6(ARID1A):c.4994-12G>T | not provided [RCV003869942] | likely benign | 1 | 26775565 | 26775565 | Human | | name |
| 405230473 | CV3180928 | single nucleotide variant | NM_006015.6(ARID1A):c.4102-16C>T | not provided [RCV003865166] | likely benign | 1 | 26774313 | 26774313 | Human | | name |
| 404983051 | CV3184277 | single nucleotide variant | NM_006015.6(ARID1A):c.1921-14T>C | not provided [RCV003880769] | likely benign | 1 | 26760842 | 26760842 | Human | | name |
| 408386024 | CV3415500 | single nucleotide variant | NM_006015.6(ARID1A):c.3199-15G>A | Intellectual disability, autosomal dominant 14 [RCV004767601] | likely pathogenic | 1 | 26771104 | 26771104 | Human | 1 | name |
| 597906696 | CV3738818 | single nucleotide variant | NM_006015.6(ARID1A):c.3198+19C>T | not provided [RCV005073053] | likely benign | 1 | 26768018 | 26768018 | Human | | name |
| 597878556 | CV3744388 | single nucleotide variant | NM_006015.6(ARID1A):c.2878+17C>T | not provided [RCV005069602] | likely benign | 1 | 26766383 | 26766383 | Human | | name |
| 597849872 | CV3746819 | single nucleotide variant | NM_006015.6(ARID1A):c.1921-11A>G | not provided [RCV005060446] | likely benign | 1 | 26760845 | 26760845 | Human | | name |
| 597872659 | CV3769752 | single nucleotide variant | NM_006015.6(ARID1A):c.2988+20C>T | not provided [RCV005108010] | likely benign | 1 | 26766586 | 26766586 | Human | | name |
| 597903030 | CV3800263 | single nucleotide variant | NM_006015.6(ARID1A):c.1138-15C>T | not provided [RCV005127435] | likely benign | 1 | 26729636 | 26729636 | Human | | name |
| 597919982 | CV3811727 | single nucleotide variant | NM_006015.6(ARID1A):c.4993+18A>G | not provided [RCV005155558] | likely benign | 1 | 26775238 | 26775238 | Human | | name |
| 597932472 | CV3812739 | single nucleotide variant | NM_006015.6(ARID1A):c.3407-20A>T | not provided [RCV005157271] | likely benign | 1 | 26772480 | 26772480 | Human | | name |
| 597831524 | CV3830805 | single nucleotide variant | NM_006015.6(ARID1A):c.4005-15C>G | not provided [RCV005170203] | likely benign | 1 | 26773787 | 26773787 | Human | | name |
| 13215043 | CV427779 | single nucleotide variant | NM_006015.6(ARID1A):c.1351-10T>C | not provided [RCV005091080]|not specified [RCV000502008] | likely benign | 1 | 26731142 | 26731142 | Human | | name |
| 150407972 | CV1175885 | single nucleotide variant | NM_006015.6(ARID1A):c.2733-290A>G | not provided [RCV001545743] | likely benign | 1 | 26765931 | 26765931 | Human | | name |
| 150422578 | CV1179244 | duplication | NM_006015.6(ARID1A):c.3199-216dup | not provided [RCV001552832] | likely benign | 1 | 26770902 | 26770903 | Human | | name |
| 150423944 | CV1182908 | single nucleotide variant | NM_006015.6(ARID1A):c.2732+160G>A | not provided [RCV001556001] | likely benign | 1 | 26763445 | 26763445 | Human | | name |
| 150421226 | CV1196602 | single nucleotide variant | NM_006015.6(ARID1A):c.3716-149C>A | not provided [RCV001577945] | likely benign | 1 | 26773197 | 26773197 | Human | | name |
| 150462334 | CV1206575 | deletion | NM_006015.6(ARID1A):c.2419+298del | not provided [RCV001586976] | likely benign | 1 | 26762617 | 26762617 | Human | | name |
| 150481374 | CV1209781 | single nucleotide variant | NM_006015.6(ARID1A):c.5124+123C>G | not provided [RCV001590478] | likely benign | 1 | 26775830 | 26775830 | Human | | name |
| 150487340 | CV1251507 | single nucleotide variant | NM_006015.6(ARID1A):c.1921-158T>A | not provided [RCV001674178] | benign | 1 | 26760698 | 26760698 | Human | | name |
| 150487837 | CV1262800 | single nucleotide variant | NM_006015.6(ARID1A):c.1350+289G>A | not provided [RCV001687198] | benign | 1 | 26730152 | 26730152 | Human | | name |
| 150473422 | CV1262900 | duplication | NM_006015.6(ARID1A):c.1921-159dup | not provided [RCV001684716] | benign | 1 | 26760686 | 26760687 | Human | | name |
| 150495495 | CV1272646 | single nucleotide variant | NM_006015.6(ARID1A):c.2252-282A>G | not provided [RCV001688569] | benign | 1 | 26761870 | 26761870 | Human | | name |
| 150442029 | CV1287658 | single nucleotide variant | NM_006015.6(ARID1A):c.2989-125A>G | not provided [RCV001725378] | benign | 1 | 26767665 | 26767665 | Human | | name |
| 152037394 | CV1669112 | single nucleotide variant | NM_006015.6(ARID1A):c.4993+174C>T | not provided [RCV002224164] | uncertain significance | 1 | 26775394 | 26775394 | Human | | name |
| 15144711 | CV732352 | single nucleotide variant | NM_006015.6(ARID1A):c.24C>G (p.Ala8=) | not provided [RCV000900047] | likely benign | 1 | 26696427 | 26696427 | Human | | name |
| 150406293 | CV1189609 | single nucleotide variant | NM_006015.6(ARID1A):c.2T>C (p.Met1Thr) | not provided [RCV001564646] | uncertain significance | 1 | 26696405 | 26696405 | Human | | name |
| 150414698 | CV1196600 | microsatellite | NM_006015.6(ARID1A):c.1803+274TTTTA[6] | not provided [RCV001575077] | likely benign | 1 | 26731877 | 26731878 | Human | | name |
| 150532834 | CV1310889 | single nucleotide variant | NM_006015.6(ARID1A):c.66G>C (p.Ser22=) | not provided [RCV001776623] | likely benign | 1 | 26696469 | 26696469 | Human | | name |
| 152137015 | CV1537951 | single nucleotide variant | NM_006015.6(ARID1A):c.72G>C (p.Leu24=) | not provided [RCV002177556] | likely benign | 1 | 26696475 | 26696475 | Human | | name |
| 153348360 | CV1695400 | deletion | NM_006015.6(ARID1A):c.1920+3_1920+6del | Intellectual disability, autosomal dominant 14 [RCV002279913] | likely pathogenic | 1 | 26732793 | 26732796 | Human | 1 | name |
| 155642065 | CV1707230 | single nucleotide variant | NM_006015.6(ARID1A):c.4G>A (p.Ala2Thr) | not provided [RCV002288160] | uncertain significance | 1 | 26696407 | 26696407 | Human | | name |
| 155913804 | CV1990312 | single nucleotide variant | NM_006015.6(ARID1A):c.75G>A (p.Lys25=) | not provided [RCV002614179] | benign | 1 | 26696478 | 26696478 | Human | | name |
| 156219882 | CV2080808 | single nucleotide variant | NM_006015.6(ARID1A):c.2T>G (p.Met1Arg) | not provided [RCV002853169] | uncertain significance | 1 | 26696405 | 26696405 | Human | | name |
| 402497172 | CV2875453 | single nucleotide variant | NM_006015.6(ARID1A):c.36C>T (p.Ser12=) | ARID1A-related disorder [RCV003901116]|not provided [RCV003545536] | benign|likely benign | 1 | 26696439 | 26696439 | Human | 1 | name , alternate_id |
| 402487942 | CV2941413 | single nucleotide variant | NM_006015.6(ARID1A):c.96G>A (p.Arg32=) | not provided [RCV003660204] | likely benign | 1 | 26696499 | 26696499 | Human | | name |
| 405128221 | CV3054320 | single nucleotide variant | NM_006015.6(ARID1A):c.60G>A (p.Pro20=) | not provided [RCV003724579] | likely benign | 1 | 26696463 | 26696463 | Human | | name |
| 405258958 | CV3197908 | single nucleotide variant | NM_006015.6(ARID1A):c.81C>T (p.Ala27=) | ARID1A-related disorder [RCV003893831] | likely benign | 1 | 26696484 | 26696484 | Human | | name , trait , alternate_id |
| 597900266 | CV3771199 | single nucleotide variant | NM_006015.6(ARID1A):c.42C>T (p.Gly14=) | not provided [RCV005112164] | likely benign | 1 | 26696445 | 26696445 | Human | | name |
| 150493254 | CV1238633 | single nucleotide variant | NM_006015.6(ARID1A):c.162C>T (p.Ala54=) | ARID1A-related disorder [RCV003941056]|Intellectual disability, autosomal dominant 14 [RCV002260262]|not provided [RCV001655177]|not specified [RCV003151344] | benign|likely benign | 1 | 26696565 | 26696565 | Human | 1 | name , alternate_id |
| 150556482 | CV1303169 | single nucleotide variant | NM_006015.6(ARID1A):c.22G>A (p.Ala8Thr) | Intellectual disability, autosomal dominant 14 [RCV005415619]|not provided [RCV001774362] | uncertain significance | 1 | 26696425 | 26696425 | Human | 1 | name |
| 156413593 | CV1901004 | single nucleotide variant | NM_006015.6(ARID1A):c.261A>C (p.Gly87=) | not provided [RCV002588210] | likely benign | 1 | 26696664 | 26696664 | Human | | name |
| 156252788 | CV1960476 | single nucleotide variant | NM_006015.6(ARID1A):c.207G>A (p.Leu69=) | not provided [RCV002576595] | likely benign | 1 | 26696610 | 26696610 | Human | | name |
| 156397399 | CV1985340 | single nucleotide variant | NM_006015.6(ARID1A):c.219G>A (p.Leu73=) | not provided [RCV002635638] | likely benign | 1 | 26696622 | 26696622 | Human | | name |
| 156328950 | CV1990807 | single nucleotide variant | NM_006015.6(ARID1A):c.213G>A (p.Lys71=) | not provided [RCV002630818] | likely benign | 1 | 26696616 | 26696616 | Human | | name |
| 405209667 | CV2871440 | single nucleotide variant | NM_006015.6(ARID1A):c.294G>T (p.Pro98=) | not provided [RCV003552411] | likely benign | 1 | 26696697 | 26696697 | Human | | name |
| 405237169 | CV2881061 | single nucleotide variant | NM_006015.6(ARID1A):c.261A>G (p.Gly87=) | not provided [RCV003556624] | likely benign | 1 | 26696664 | 26696664 | Human | | name |
| 405243420 | CV2974896 | single nucleotide variant | NM_006015.6(ARID1A):c.126G>A (p.Ala42=) | not provided [RCV003684526] | likely benign | 1 | 26696529 | 26696529 | Human | | name |
| 405127876 | CV3050127 | single nucleotide variant | NM_006015.6(ARID1A):c.123G>A (p.Ala41=) | not provided [RCV003724548] | benign | 1 | 26696526 | 26696526 | Human | | name |
| 405244707 | CV3050749 | single nucleotide variant | NM_006015.6(ARID1A):c.168G>A (p.Gln56=) | not provided [RCV003720066] | benign | 1 | 26696571 | 26696571 | Human | | name |
| 405140174 | CV3125796 | single nucleotide variant | NM_006015.6(ARID1A):c.138G>A (p.Glu46=) | not provided [RCV003816711] | likely benign | 1 | 26696541 | 26696541 | Human | | name |
| 405178229 | CV3148682 | single nucleotide variant | NM_006015.6(ARID1A):c.13G>A (p.Val5Ile) | not provided [RCV003858460] | uncertain significance | 1 | 26696416 | 26696416 | Human | | name |
| 405157135 | CV3152460 | single nucleotide variant | NM_006015.6(ARID1A):c.297C>T (p.Asp99=) | not provided [RCV003840387] | likely benign | 1 | 26696700 | 26696700 | Human | | name |
| 405141563 | CV3155335 | single nucleotide variant | NM_006015.6(ARID1A):c.108G>T (p.Gly36=) | not provided [RCV003855573] | likely benign | 1 | 26696511 | 26696511 | Human | | name |
| 408379032 | CV3504027 | single nucleotide variant | NM_006015.6(ARID1A):c.279G>A (p.Gly93=) | ARID1A-related disorder [RCV004728234] | likely benign | 1 | 26696682 | 26696682 | Human | | name , trait , alternate_id |
| 408387544 | CV3518888 | single nucleotide variant | NM_006015.6(ARID1A):c.144G>A (p.Gly48=) | not provided [RCV004761207] | uncertain significance | 1 | 26696547 | 26696547 | Human | | name |
| 12839306 | CV364984 | single nucleotide variant | NM_006015.6(ARID1A):c.111C>T (p.Gly37=) | not provided [RCV002522388]|not specified [RCV000428570] | benign|likely benign | 1 | 26696514 | 26696514 | Human | | name |
| 597944513 | CV3755005 | single nucleotide variant | NM_006015.6(ARID1A):c.159C>T (p.Ala53=) | not provided [RCV005078194] | likely benign | 1 | 26696562 | 26696562 | Human | | name |
| 597876684 | CV3766675 | single nucleotide variant | NM_006015.6(ARID1A):c.234G>A (p.Glu78=) | not provided [RCV005108615] | likely benign | 1 | 26696637 | 26696637 | Human | | name |
| 597975991 | CV3829013 | single nucleotide variant | NM_006015.6(ARID1A):c.222G>A (p.Gln74=) | not provided [RCV005169462] | likely benign | 1 | 26696625 | 26696625 | Human | | name |
| 13216433 | CV427763 | single nucleotide variant | NM_006015.6(ARID1A):c.135C>T (p.Ala45=) | Intellectual disability, autosomal dominant 14 [RCV002259970]|not provided [RCV001613318]|not specified [RCV000503755] | benign|likely benign | 1 | 26696538 | 26696538 | Human | 1 | name |
| 13215116 | CV427767 | single nucleotide variant | NM_006015.6(ARID1A):c.264C>T (p.Ala88=) | ARID1A-related disorder [RCV003932818]|not provided [RCV002524153]|not specified [RCV000502110] | benign|likely benign | 1 | 26696667 | 26696667 | Human | 1 | name , alternate_id |
| 126731160 | CV1000198 | single nucleotide variant | NM_006015.6(ARID1A):c.357G>A (p.Glu119=) | not provided [RCV001310514] | likely benign | 1 | 26696760 | 26696760 | Human | | name |
| 150336343 | CV1164866 | single nucleotide variant | NM_006015.6(ARID1A):c.759C>G (p.Pro253=) | Intellectual disability, autosomal dominant 14 [RCV002260175]|not provided [RCV001530802] | benign|likely benign | 1 | 26697162 | 26697162 | Human | 1 | name |
| 150335694 | CV1165514 | single nucleotide variant | NM_006015.6(ARID1A):c.480C>T (p.Ala160=) | not provided [RCV001531619] | benign|likely benign | 1 | 26696883 | 26696883 | Human | | name |
| 150331618 | CV1170712 | single nucleotide variant | NM_006015.6(ARID1A):c.456A>G (p.Gln152=) | ARID1A-related disorder [RCV003921199]|not provided [RCV001538706] | benign|likely benign|conflicting interpretations of pathogenicity | 1 | 26696859 | 26696859 | Human | 1 | name , alternate_id |
| 150408644 | CV1175884 | single nucleotide variant | NM_006015.6(ARID1A):c.405T>G (p.Pro135=) | ARID1A-related disorder [RCV003966168]|not provided [RCV001545977] | benign|likely benign | 1 | 26696808 | 26696808 | Human | 1 | name , alternate_id |
| 150425904 | CV1182904 | single nucleotide variant | NM_006015.6(ARID1A):c.591G>T (p.Gly197=) | not provided [RCV001558640] | likely benign | 1 | 26696994 | 26696994 | Human | | name |
| 150425917 | CV1182905 | single nucleotide variant | NM_006015.6(ARID1A):c.927G>A (p.Gln309=) | not provided [RCV001558656] | benign|likely benign | 1 | 26697330 | 26697330 | Human | | name |
| 150466141 | CV1201195 | single nucleotide variant | NM_006015.6(ARID1A):c.372C>T (p.Gly124=) | not provided [RCV001587675] | benign|likely benign | 1 | 26696775 | 26696775 | Human | | name |
| 150439730 | CV1201589 | single nucleotide variant | NM_006015.6(ARID1A):c.375T>C (p.Gly125=) | not provided [RCV001583401] | likely benign | 1 | 26696778 | 26696778 | Human | | name |
| 150434459 | CV1230793 | single nucleotide variant | NM_006015.6(ARID1A):c.393G>C (p.Gly131=) | Intellectual disability, autosomal dominant 14 [RCV002260239]|not provided [RCV001643740] | benign | 1 | 26696796 | 26696796 | Human | 1 | name |
| 150482673 | CV1247492 | single nucleotide variant | NM_006015.6(ARID1A):c.837C>T (p.Pro279=) | not provided [RCV001673318] | benign|likely benign | 1 | 26697240 | 26697240 | Human | | name |
| 150484442 | CV1263179 | single nucleotide variant | NM_006015.6(ARID1A):c.504C>T (p.Val168=) | not provided [RCV001686579] | benign | 1 | 26696907 | 26696907 | Human | | name |
| 150547909 | CV1303866 | single nucleotide variant | NM_006015.6(ARID1A):c.579G>A (p.Glu193=) | not provided [RCV001763969] | uncertain significance | 1 | 26696982 | 26696982 | Human | | name |
| 151354628 | CV1327695 | single nucleotide variant | NM_006015.6(ARID1A):c.550C>T (p.Leu184=) | not specified [RCV001819170] | uncertain significance | 1 | 26696953 | 26696953 | Human | | name |
| 152090084 | CV1535839 | single nucleotide variant | NM_006015.6(ARID1A):c.541C>T (p.Leu181=) | not provided [RCV002150478] | likely benign | 1 | 26696944 | 26696944 | Human | | name |
| 152158987 | CV1544314 | single nucleotide variant | NM_006015.6(ARID1A):c.466C>A (p.Arg156=) | not provided [RCV002122858] | benign | 1 | 26696869 | 26696869 | Human | | name |
| 152097133 | CV1587050 | single nucleotide variant | NM_006015.6(ARID1A):c.582C>T (p.Pro194=) | not provided [RCV002078501] | likely benign | 1 | 26696985 | 26696985 | Human | | name |
| 152058949 | CV1644665 | single nucleotide variant | NM_006015.6(ARID1A):c.900G>A (p.Thr300=) | not provided [RCV002167770] | likely benign | 1 | 26697303 | 26697303 | Human | | name |
| 152105028 | CV1658880 | single nucleotide variant | NM_006015.6(ARID1A):c.624C>A (p.Pro208=) | not provided [RCV002152287] | likely benign | 1 | 26697027 | 26697027 | Human | | name |
| 155267090 | CV1696495 | single nucleotide variant | NM_006015.6(ARID1A):c.945C>T (p.Asp315=) | not provided [RCV002281353] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26697348 | 26697348 | Human | | name |
| 155688229 | CV1803816 | single nucleotide variant | NM_006015.6(ARID1A):c.594C>T (p.Pro198=) | Inborn genetic diseases [RCV002355970]|not provided [RCV005058451] | likely benign | 1 | 26696997 | 26696997 | Human | 1 | name |
| 156315493 | CV1907333 | single nucleotide variant | NM_006015.6(ARID1A):c.897C>T (p.Leu299=) | not provided [RCV003088696] | likely benign | 1 | 26697300 | 26697300 | Human | | name |
| 156077080 | CV1912461 | single nucleotide variant | NM_006015.6(ARID1A):c.810C>T (p.Arg270=) | not provided [RCV002591453] | likely benign | 1 | 26697213 | 26697213 | Human | | name |
| 156177193 | CV1953205 | single nucleotide variant | NM_006015.6(ARID1A):c.450C>T (p.Phe150=) | not provided [RCV002574000] | likely benign | 1 | 26696853 | 26696853 | Human | | name |
| 156331973 | CV1954163 | single nucleotide variant | NM_006015.6(ARID1A):c.540C>T (p.Gly180=) | not provided [RCV002580049] | benign | 1 | 26696943 | 26696943 | Human | | name |
| 156417559 | CV1967030 | single nucleotide variant | NM_006015.6(ARID1A):c.906C>G (p.Pro302=) | not provided [RCV002590254] | likely benign | 1 | 26697309 | 26697309 | Human | | name |
| 156197765 | CV1967862 | single nucleotide variant | NM_006015.6(ARID1A):c.366C>T (p.Gly122=) | not provided [RCV002625625] | likely benign | 1 | 26696769 | 26696769 | Human | | name |
| 156066465 | CV1971723 | deletion | NM_006015.6(ARID1A):c.2419+10_2419+21del | ARID1A-related disorder [RCV003936280]|not provided [RCV002621115] | likely benign|uncertain significance | 1 | 26762329 | 26762340 | Human | 1 | name , alternate_id |
| 156266275 | CV1973879 | single nucleotide variant | NM_006015.6(ARID1A):c.720C>G (p.Gly240=) | not provided [RCV002597944] | likely benign | 1 | 26697123 | 26697123 | Human | | name |
| 156095707 | CV1980909 | single nucleotide variant | NM_006015.6(ARID1A):c.906C>A (p.Pro302=) | not provided [RCV002622021] | likely benign | 1 | 26697309 | 26697309 | Human | | name |
| 156343443 | CV1981680 | single nucleotide variant | NM_006015.6(ARID1A):c.666C>T (p.Tyr222=) | not provided [RCV002631549] | likely benign | 1 | 26697069 | 26697069 | Human | | name |
| 156226560 | CV1991568 | single nucleotide variant | NM_006015.6(ARID1A):c.321G>A (p.Ala107=) | not provided [RCV002626639] | likely benign | 1 | 26696724 | 26696724 | Human | | name |
| 156033460 | CV2002514 | single nucleotide variant | NM_006015.6(ARID1A):c.879C>A (p.Pro293=) | not provided [RCV002658758] | likely benign | 1 | 26697282 | 26697282 | Human | | name |
| 156268922 | CV2008066 | single nucleotide variant | NM_006015.6(ARID1A):c.95G>A (p.Arg32Gln) | not provided [RCV002714912] | uncertain significance | 1 | 26696498 | 26696498 | Human | | name |
| 156266379 | CV2030482 | single nucleotide variant | NM_006015.6(ARID1A):c.711C>T (p.Gly237=) | not provided [RCV002746486] | likely benign | 1 | 26697114 | 26697114 | Human | | name |
| 156062532 | CV2065439 | single nucleotide variant | NM_006015.6(ARID1A):c.699C>G (p.Ser233=) | not provided [RCV002846823] | likely benign | 1 | 26697102 | 26697102 | Human | | name |
| 156189947 | CV2066336 | single nucleotide variant | NM_006015.6(ARID1A):c.429G>A (p.Leu143=) | not provided [RCV002828578] | likely benign | 1 | 26696832 | 26696832 | Human | | name |
| 156133236 | CV2085059 | single nucleotide variant | NM_006015.6(ARID1A):c.489C>T (p.Ala163=) | not provided [RCV002871713] | likely benign | 1 | 26696892 | 26696892 | Human | | name |
| 156233956 | CV2118321 | single nucleotide variant | NM_006015.6(ARID1A):c.873C>T (p.Ala291=) | not provided [RCV002958619] | likely benign | 1 | 26697276 | 26697276 | Human | | name |
| 156225373 | CV2121779 | single nucleotide variant | NM_006015.6(ARID1A):c.483C>T (p.Val161=) | not provided [RCV002958304] | likely benign | 1 | 26696886 | 26696886 | Human | | name |
| 156097999 | CV2152843 | single nucleotide variant | NM_006015.6(ARID1A):c.780C>A (p.Ser260=) | not provided [RCV003020941] | likely benign | 1 | 26697183 | 26697183 | Human | | name |
| 155954334 | CV2166317 | single nucleotide variant | NM_006015.6(ARID1A):c.691C>T (p.Leu231=) | not provided [RCV003015018] | likely benign | 1 | 26697094 | 26697094 | Human | | name |
| 155912623 | CV2245596 | single nucleotide variant | NM_006015.6(ARID1A):c.91C>G (p.Gln31Glu) | Inborn genetic diseases [RCV002771769] | uncertain significance | 1 | 26696494 | 26696494 | Human | 1 | name |
| 243053708 | CV2416379 | single nucleotide variant | NM_006015.6(ARID1A):c.741C>G (p.Ala247=) | not provided [RCV003149440] | uncertain significance | 1 | 26697144 | 26697144 | Human | | name |
| 329351192 | CV2476373 | single nucleotide variant | NM_006015.6(ARID1A):c.915C>T (p.Ala305=) | not provided [RCV003222605] | benign|likely benign | 1 | 26697318 | 26697318 | Human | | name |
| 401798395 | CV2741498 | deletion | NM_006015.6(ARID1A):c.284del (p.Gly95fs) | Intellectual disability, autosomal dominant 14 [RCV003322717] | pathogenic|likely pathogenic | 1 | 26696686 | 26696686 | Human | 1 | name |
| 401935492 | CV2812510 | single nucleotide variant | NM_006015.6(ARID1A):c.369C>T (p.Gly123=) | not provided [RCV003412948] | likely benign | 1 | 26696772 | 26696772 | Human | | name |
| 401935495 | CV2812513 | single nucleotide variant | NM_006015.6(ARID1A):c.846C>T (p.Ala282=) | not provided [RCV003412951] | likely benign | 1 | 26697249 | 26697249 | Human | | name |
| 401915038 | CV2830938 | single nucleotide variant | NM_006015.6(ARID1A):c.819C>T (p.Ala273=) | not provided [RCV003442677] | uncertain significance | 1 | 26697222 | 26697222 | Human | | name |
| 405238613 | CV2889156 | single nucleotide variant | NM_006015.6(ARID1A):c.474G>C (p.Pro158=) | ARID1A-related disorder [RCV003946715]|not provided [RCV003556893] | likely benign | 1 | 26696877 | 26696877 | Human | 1 | name , alternate_id |
| 405129457 | CV2893374 | single nucleotide variant | NM_006015.6(ARID1A):c.501C>T (p.Ala167=) | ARID1A-related disorder [RCV003946721]|not provided [RCV003559819] | benign|likely benign | 1 | 26696904 | 26696904 | Human | 1 | name , alternate_id |
| 405121796 | CV2954042 | single nucleotide variant | NM_006015.6(ARID1A):c.906C>T (p.Pro302=) | not provided [RCV003667522] | likely benign | 1 | 26697309 | 26697309 | Human | | name |
| 405233439 | CV2975361 | single nucleotide variant | NM_006015.6(ARID1A):c.858T>A (p.Thr286=) | not provided [RCV003682635] | likely benign | 1 | 26697261 | 26697261 | Human | | name |
| 405155444 | CV3028088 | single nucleotide variant | NM_006015.6(ARID1A):c.684C>A (p.Ala228=) | not provided [RCV003703580] | likely benign | 1 | 26697087 | 26697087 | Human | | name |
| 405119593 | CV3030692 | single nucleotide variant | NM_006015.6(ARID1A):c.393G>T (p.Gly131=) | not provided [RCV003700614] | likely benign | 1 | 26696796 | 26696796 | Human | | name |
| 405138916 | CV3045355 | single nucleotide variant | NM_006015.6(ARID1A):c.882C>T (p.Thr294=) | not provided [RCV003725478]|not specified [RCV004783103] | likely benign | 1 | 26697285 | 26697285 | Human | | name |
| 405211227 | CV3059155 | single nucleotide variant | NM_006015.6(ARID1A):c.546A>C (p.Ala182=) | not provided [RCV003732039] | likely benign | 1 | 26696949 | 26696949 | Human | | name |
| 405132195 | CV3115169 | single nucleotide variant | NM_006015.6(ARID1A):c.360G>A (p.Pro120=) | not provided [RCV003816014] | benign | 1 | 26696763 | 26696763 | Human | | name |
| 405087852 | CV3122135 | single nucleotide variant | NM_006015.6(ARID1A):c.432G>A (p.Pro144=) | not provided [RCV003810890] | benign | 1 | 26696835 | 26696835 | Human | | name |
| 404997958 | CV3123853 | single nucleotide variant | NM_006015.6(ARID1A):c.621C>T (p.Phe207=) | not provided [RCV003827760] | likely benign | 1 | 26697024 | 26697024 | Human | | name |
| 405214554 | CV3124461 | single nucleotide variant | NM_006015.6(ARID1A):c.702G>A (p.Pro234=) | not provided [RCV003823823] | likely benign | 1 | 26697105 | 26697105 | Human | | name |
| 405196537 | CV3128744 | single nucleotide variant | NM_006015.6(ARID1A):c.696C>T (p.Ser232=) | not provided [RCV003821482] | likely benign | 1 | 26697099 | 26697099 | Human | | name |
| 405031908 | CV3130279 | single nucleotide variant | NM_006015.6(ARID1A):c.942C>T (p.Gly314=) | not provided [RCV003830686] | likely benign | 1 | 26697345 | 26697345 | Human | | name |
| 405111473 | CV3137254 | single nucleotide variant | NM_006015.6(ARID1A):c.324C>T (p.Gly108=) | not provided [RCV003836217] | benign | 1 | 26696727 | 26696727 | Human | | name |
| 405197759 | CV3146783 | single nucleotide variant | NM_006015.6(ARID1A):c.816G>C (p.Gly272=) | not provided [RCV003844138] | likely benign | 1 | 26697219 | 26697219 | Human | | name |
| 405087282 | CV3167447 | single nucleotide variant | NM_006015.6(ARID1A):c.777C>T (p.Ala259=) | not provided [RCV003852029] | benign | 1 | 26697180 | 26697180 | Human | | name |
| 405195641 | CV3168061 | single nucleotide variant | NM_006015.6(ARID1A):c.363C>T (p.Pro121=) | not provided [RCV003860193] | benign | 1 | 26696766 | 26696766 | Human | | name |
| 402465891 | CV3177372 | single nucleotide variant | NM_006015.6(ARID1A):c.597G>A (p.Gln199=) | not provided [RCV003873003] | likely benign | 1 | 26697000 | 26697000 | Human | | name |
| 405274510 | CV3208873 | single nucleotide variant | NM_006015.6(ARID1A):c.795C>T (p.Ser265=) | ARID1A-related disorder [RCV003951668]|not provided [RCV005064837] | likely benign | 1 | 26697198 | 26697198 | Human | 1 | name , alternate_id |
| 407474935 | CV3483113 | single nucleotide variant | NM_006015.6(ARID1A):c.38T>G (p.Leu13Arg) | Inborn genetic diseases [RCV004663122] | uncertain significance | 1 | 26696441 | 26696441 | Human | 1 | name |
| 408375118 | CV3510069 | single nucleotide variant | NM_006015.6(ARID1A):c.936C>A (p.Pro312=) | ARID1A-related disorder [RCV004747810] | likely benign | 1 | 26697339 | 26697339 | Human | | name , trait , alternate_id |
| 596925925 | CV3530631 | single nucleotide variant | NM_006015.6(ARID1A):c.85C>A (p.Gln29Lys) | not provided [RCV004778216] | uncertain significance | 1 | 26696488 | 26696488 | Human | | name |
| 596921867 | CV3535495 | single nucleotide variant | NM_006015.6(ARID1A):c.88C>T (p.Gln30Ter) | Intellectual disability, autosomal dominant 14 [RCV004785050] | likely pathogenic | 1 | 26696491 | 26696491 | Human | 1 | name |
| 597851465 | CV3737536 | single nucleotide variant | NM_006015.6(ARID1A):c.879C>G (p.Pro293=) | not provided [RCV005066309] | benign | 1 | 26697282 | 26697282 | Human | | name |
| 597898017 | CV3740776 | single nucleotide variant | NM_006015.6(ARID1A):c.762C>T (p.Ser254=) | not provided [RCV005071939] | likely benign | 1 | 26697165 | 26697165 | Human | | name |
| 597849461 | CV3746585 | single nucleotide variant | NM_006015.6(ARID1A):c.669C>T (p.Pro223=) | not provided [RCV005060404] | likely benign | 1 | 26697072 | 26697072 | Human | | name |
| 597944994 | CV3758471 | single nucleotide variant | NM_006015.6(ARID1A):c.570G>A (p.Gly190=) | not provided [RCV005078290] | likely benign | 1 | 26696973 | 26696973 | Human | | name |
| 597891088 | CV3762952 | single nucleotide variant | NM_006015.6(ARID1A):c.723C>T (p.Ser241=) | not provided [RCV005110725] | likely benign | 1 | 26697126 | 26697126 | Human | | name |
| 597868944 | CV3784017 | single nucleotide variant | NM_006015.6(ARID1A):c.834C>T (p.Gly278=) | not provided [RCV005122321] | likely benign | 1 | 26697237 | 26697237 | Human | | name |
| 597953115 | CV3815914 | single nucleotide variant | NM_006015.6(ARID1A):c.298C>T (p.Leu100=) | not provided [RCV005161666] | likely benign | 1 | 26696701 | 26696701 | Human | | name |
| 597973879 | CV3820737 | single nucleotide variant | NM_006015.6(ARID1A):c.852G>C (p.Gly284=) | not provided [RCV005168254] | likely benign | 1 | 26697255 | 26697255 | Human | | name |
| 597843244 | CV3827278 | single nucleotide variant | NM_006015.6(ARID1A):c.930C>T (p.Gly310=) | not provided [RCV005172549] | likely benign | 1 | 26697333 | 26697333 | Human | | name |
| 597976185 | CV3829196 | single nucleotide variant | NM_006015.6(ARID1A):c.921C>A (p.Gly307=) | not provided [RCV005169645] | benign | 1 | 26697324 | 26697324 | Human | | name |
| 597939821 | CV3836540 | single nucleotide variant | NM_006015.6(ARID1A):c.837C>G (p.Pro279=) | not provided [RCV005187561] | likely benign | 1 | 26697240 | 26697240 | Human | | name |
| 597948794 | CV3848749 | single nucleotide variant | NM_006015.6(ARID1A):c.870C>T (p.Thr290=) | not provided [RCV005189686] | likely benign | 1 | 26697273 | 26697273 | Human | | name |
| 597866228 | CV3857771 | single nucleotide variant | NM_006015.6(ARID1A):c.495G>C (p.Ala165=) | not provided [RCV005196718] | likely benign | 1 | 26696898 | 26696898 | Human | | name |
| 597918177 | CV3861494 | single nucleotide variant | NM_006015.6(ARID1A):c.999C>T (p.Ala333=) | not provided [RCV005204651] | likely benign | 1 | 26697402 | 26697402 | Human | | name |
| 617153823 | CV4016911 | single nucleotide variant | NM_006015.6(ARID1A):c.780C>T (p.Ser260=) | Intellectual disability, autosomal dominant 14 [RCV005416008] | uncertain significance | 1 | 26697183 | 26697183 | Human | 1 | name |
| 13213819 | CV427769 | single nucleotide variant | NM_006015.6(ARID1A):c.318C>T (p.Asn106=) | Intellectual disability, autosomal dominant 14 [RCV002259972]|not provided [RCV001712459]|not specified [RCV000500481] | benign|likely benign | 1 | 26696721 | 26696721 | Human | 1 | name |
| 13216630 | CV427773 | single nucleotide variant | NM_006015.6(ARID1A):c.717G>T (p.Pro239=) | not specified [RCV000504000] | uncertain significance | 1 | 26697120 | 26697120 | Human | | name |
| 13214298 | CV427775 | single nucleotide variant | NM_006015.6(ARID1A):c.843G>A (p.Ala281=) | ARID1A-related disorder [RCV004745426]|not provided [RCV003558413]|not specified [RCV000501090] | likely benign | 1 | 26697246 | 26697246 | Human | 1 | name , alternate_id |
| 13215206 | CV427776 | single nucleotide variant | NM_006015.6(ARID1A):c.879C>T (p.Pro293=) | not specified [RCV000502212] | uncertain significance | 1 | 26697282 | 26697282 | Human | | name |
| 13445792 | CV437801 | single nucleotide variant | NM_006015.6(ARID1A):c.741C>T (p.Ala247=) | not provided [RCV000512864] | uncertain significance | 1 | 26697144 | 26697144 | Human | | name |
| 13831982 | CV582479 | single nucleotide variant | NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter) | ARID1A-related disorder [RCV004723138]|not provided [RCV000722667] | likely pathogenic|uncertain significance | 1 | 26696470 | 26696470 | Human | 1 | name , alternate_id |
| 28880074 | CV858938 | single nucleotide variant | NM_006015.6(ARID1A):c.55C>G (p.Pro19Ala) | not provided [RCV001090915] | uncertain significance | 1 | 26696458 | 26696458 | Human | | name |
| 126743344 | CV1015705 | single nucleotide variant | NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys) | Intellectual disability, autosomal dominant 14 [RCV001330180] | uncertain significance | 1 | 26696692 | 26696692 | Human | 1 | name |
| 126730579 | CV1019350 | single nucleotide variant | NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg) | Intellectual disability, autosomal dominant 14 [RCV001333477] | uncertain significance | 1 | 26696600 | 26696600 | Human | 1 | name |
| 127244207 | CV1053728 | single nucleotide variant | NM_006015.6(ARID1A):c.175G>T (p.Glu59Ter) | Non-immune hydrops fetalis [RCV001376026] | pathogenic | 1 | 26696578 | 26696578 | Human | 2 | name |
| 127261672 | CV1087300 | single nucleotide variant | NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) | Coffin-Siris syndrome [RCV005361604]|Intellectual disability, autosomal dominant 14 [RCV001420572]|not provided [RCV003727995] | benign|uncertain significance | 1 | 26696525 | 26696525 | Human | 2 | name |
| 150337901 | CV1166615 | single nucleotide variant | NM_006015.6(ARID1A):c.166C>T (p.Gln56Ter) | ARID1A-related BAFopathy [RCV001533055]|Intellectual disability, autosomal dominant 14 [RCV005225419] | pathogenic | 1 | 26696569 | 26696569 | Human | 1 | name |
| 150337575 | CV1170713 | single nucleotide variant | NM_006015.6(ARID1A):c.2298G>A (p.Gln766=) | ARID1A-related disorder [RCV003940988]|not provided [RCV001541738] | benign|likely benign | 1 | 26762198 | 26762198 | Human | 1 | name , alternate_id |
| 150425836 | CV1182907 | single nucleotide variant | NM_006015.6(ARID1A):c.2229A>G (p.Gln743=) | not provided [RCV001558536] | likely benign | 1 | 26761451 | 26761451 | Human | | name |
| 150453056 | CV1203724 | single nucleotide variant | NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr) | Intellectual disability, autosomal dominant 14 [RCV001591680] | uncertain significance | 1 | 26696672 | 26696672 | Human | 1 | name |
| 150457738 | CV1219657 | single nucleotide variant | NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=) | Intellectual disability, autosomal dominant 14 [RCV002260232]|not provided [RCV001612873] | benign|likely benign | 1 | 26729779 | 26729779 | Human | 1 | name |
| 150507681 | CV1244627 | single nucleotide variant | NM_006015.6(ARID1A):c.1380C>T (p.Ser460=) | not provided [RCV001658876] | likely benign | 1 | 26731181 | 26731181 | Human | | name |
| 150451723 | CV1276632 | single nucleotide variant | NM_006015.6(ARID1A):c.1716G>A (p.Thr572=) | ARID1A-related disorder [RCV003956334]|Intellectual disability, autosomal dominant 14 [RCV002260366]|not provided [RCV001708421] | benign|likely benign | 1 | 26731517 | 26731517 | Human | 1 | name , alternate_id |
| 150551421 | CV1297357 | single nucleotide variant | NM_006015.6(ARID1A):c.281C>T (p.Pro94Leu) | not provided [RCV001767039] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26696684 | 26696684 | Human | | name |
| 150548303 | CV1316207 | single nucleotide variant | NM_006015.6(ARID1A):c.2091G>A (p.Pro697=) | Inborn genetic diseases [RCV004040819]|not provided [RCV001786008] | likely benign | 1 | 26761026 | 26761026 | Human | 1 | name |
| 151356121 | CV1328885 | single nucleotide variant | NM_006015.6(ARID1A):c.1440G>A (p.Gln480=) | not specified [RCV001822474] | uncertain significance | 1 | 26731241 | 26731241 | Human | | name |
| 151356244 | CV1329008 | single nucleotide variant | NM_006015.6(ARID1A):c.110G>A (p.Gly37Asp) | not provided [RCV003669247]|not specified [RCV001822597] | benign|uncertain significance | 1 | 26696513 | 26696513 | Human | | name |
| 151782695 | CV1350088 | single nucleotide variant | NM_006015.6(ARID1A):c.1833G>A (p.Gln611=) | not provided [RCV001989282] | likely benign|uncertain significance | 1 | 26732705 | 26732705 | Human | | name |
| 151773142 | CV1368693 | single nucleotide variant | NM_006015.6(ARID1A):c.2077C>A (p.Arg693=) | not provided [RCV001950358] | benign|uncertain significance | 1 | 26761012 | 26761012 | Human | | name |
| 151743752 | CV1401442 | single nucleotide variant | NM_006015.6(ARID1A):c.281C>A (p.Pro94His) | not provided [RCV001947366] | uncertain significance | 1 | 26696684 | 26696684 | Human | | name |
| 151771572 | CV1481896 | single nucleotide variant | NM_006015.6(ARID1A):c.209G>T (p.Gly70Val) | not provided [RCV002008892] | uncertain significance | 1 | 26696612 | 26696612 | Human | | name |
| 152175541 | CV1526877 | single nucleotide variant | NM_006015.6(ARID1A):c.2319G>A (p.Pro773=) | not provided [RCV002163676] | likely benign | 1 | 26762219 | 26762219 | Human | | name |
| 152095997 | CV1583312 | single nucleotide variant | NM_006015.6(ARID1A):c.1935A>G (p.Ser645=) | not provided [RCV002132637] | likely benign | 1 | 26760870 | 26760870 | Human | | name |
| 152025911 | CV1627709 | single nucleotide variant | NM_006015.6(ARID1A):c.1281G>A (p.Pro427=) | not provided [RCV002104371] | likely benign | 1 | 26729794 | 26729794 | Human | | name |
| 152170352 | CV1663329 | single nucleotide variant | NM_006015.6(ARID1A):c.1647C>A (p.Pro549=) | not provided [RCV002183122] | likely benign | 1 | 26731448 | 26731448 | Human | | name |
| 152156519 | CV1668554 | single nucleotide variant | NM_006015.6(ARID1A):c.2109C>T (p.Pro703=) | not provided [RCV002222836] | likely benign | 1 | 26761044 | 26761044 | Human | | name |
| 153301183 | CV1689030 | single nucleotide variant | NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) | Intellectual disability, autosomal dominant 14 [RCV002266758] | uncertain significance | 1 | 26696645 | 26696645 | Human | 1 | name |
| 155642400 | CV1706244 | single nucleotide variant | NM_006015.6(ARID1A):c.185C>T (p.Ala62Val) | not provided [RCV002287107] | uncertain significance | 1 | 26696588 | 26696588 | Human | | name |
| 155644926 | CV1710468 | single nucleotide variant | NM_006015.6(ARID1A):c.292C>T (p.Pro98Ser) | not provided [RCV002293764] | uncertain significance | 1 | 26696695 | 26696695 | Human | | name |
| 155741699 | CV1770499 | deletion | NM_006015.6(ARID1A):c.437del (p.Pro146fs) | Hepatocellular carcinoma [RCV002302724] | pathogenic | 1 | 26696836 | 26696836 | Human | 1 | name |
| 155705652 | CV1775016 | single nucleotide variant | NM_006015.6(ARID1A):c.130G>C (p.Ala44Pro) | not provided [RCV002300227] | uncertain significance | 1 | 26696533 | 26696533 | Human | | name |
| 155744828 | CV1820680 | duplication | NM_006015.6(ARID1A):c.854dup (p.Thr286fs) | Inborn genetic diseases [RCV002414465] | likely pathogenic | 1 | 26697252 | 26697253 | Human | 1 | name |
| 155702827 | CV1825403 | deletion | NM_006015.6(ARID1A):c.971del (p.Gly324fs) | Inborn genetic diseases [RCV002376713] | likely pathogenic | 1 | 26697370 | 26697370 | Human | 1 | name |
| 156410847 | CV1882794 | single nucleotide variant | NM_006015.6(ARID1A):c.2328T>C (p.Pro776=) | ARID1A-related disorder [RCV003943756]|not provided [RCV003072229] | benign|likely benign | 1 | 26762228 | 26762228 | Human | 1 | name , alternate_id |
| 156357587 | CV1891221 | single nucleotide variant | NM_006015.6(ARID1A):c.1734G>A (p.Ala578=) | ARID1A-related disorder [RCV003943773]|not provided [RCV003091464] | likely benign | 1 | 26731535 | 26731535 | Human | 1 | name , alternate_id |
| 156411728 | CV1893918 | single nucleotide variant | NM_006015.6(ARID1A):c.1764G>A (p.Gln588=) | not provided [RCV003072601] | likely benign | 1 | 26731565 | 26731565 | Human | | name |
| 156139751 | CV1898456 | single nucleotide variant | NM_006015.6(ARID1A):c.2763G>A (p.Gly921=) | not provided [RCV003082158] | benign | 1 | 26766251 | 26766251 | Human | | name |
| 156377648 | CV1906675 | single nucleotide variant | NM_006015.6(ARID1A):c.1092C>T (p.Pro364=) | not provided [RCV003093006] | benign | 1 | 26697495 | 26697495 | Human | | name |
| 156209989 | CV1909685 | single nucleotide variant | NM_006015.6(ARID1A):c.1791C>T (p.Phe597=) | ARID1A-related disorder [RCV003973687]|not provided [RCV002596026] | benign|likely benign | 1 | 26731592 | 26731592 | Human | 1 | name , alternate_id |
| 156092214 | CV1909844 | single nucleotide variant | NM_006015.6(ARID1A):c.2199G>A (p.Ser733=) | not provided [RCV002591953] | benign | 1 | 26761421 | 26761421 | Human | | name |
| 156213092 | CV1914134 | single nucleotide variant | NM_006015.6(ARID1A):c.1641C>T (p.Ser547=) | not provided [RCV002596144] | benign | 1 | 26731442 | 26731442 | Human | | name |
| 156408846 | CV1922072 | single nucleotide variant | NM_006015.6(ARID1A):c.148A>G (p.Met50Val) | ARID1A-related disorder [RCV003946320]|not provided [RCV002607369] | benign|likely benign | 1 | 26696551 | 26696551 | Human | 1 | name , alternate_id |
| 156444161 | CV1937685 | single nucleotide variant | NM_006015.6(ARID1A):c.1707A>G (p.Ala569=) | not provided [RCV003115082] | benign | 1 | 26731508 | 26731508 | Human | | name |
| 156436834 | CV1940419 | single nucleotide variant | NM_006015.6(ARID1A):c.167A>T (p.Gln56Leu) | not provided [RCV003106358] | benign | 1 | 26696570 | 26696570 | Human | | name |
| 156445227 | CV1945227 | single nucleotide variant | NM_006015.6(ARID1A):c.1056G>C (p.Gly352=) | not provided [RCV003116167] | likely benign | 1 | 26697459 | 26697459 | Human | | name |
| 156084942 | CV1956502 | single nucleotide variant | NM_006015.6(ARID1A):c.2301C>T (p.Pro767=) | not provided [RCV002570030] | likely benign | 1 | 26762201 | 26762201 | Human | | name |
| 156408439 | CV1957843 | single nucleotide variant | NM_006015.6(ARID1A):c.1593G>A (p.Pro531=) | not provided [RCV002586518] | likely benign | 1 | 26731394 | 26731394 | Human | | name |
| 156408513 | CV1957871 | single nucleotide variant | NM_006015.6(ARID1A):c.2067G>T (p.Leu689=) | not provided [RCV002586537] | likely benign | 1 | 26761002 | 26761002 | Human | | name |
| 156376316 | CV1960412 | single nucleotide variant | NM_006015.6(ARID1A):c.1995G>A (p.Gly665=) | not provided [RCV002582830] | likely benign | 1 | 26760930 | 26760930 | Human | | name |
| 156413309 | CV1969024 | single nucleotide variant | NM_006015.6(ARID1A):c.2715C>T (p.Ala905=) | not provided [RCV002608800] | likely benign | 1 | 26763268 | 26763268 | Human | | name |
| 156416233 | CV1976473 | single nucleotide variant | NM_006015.6(ARID1A):c.1107C>A (p.Gly369=) | not provided [RCV002589594] | likely benign | 1 | 26697510 | 26697510 | Human | | name |
| 155985328 | CV1979564 | single nucleotide variant | NM_006015.6(ARID1A):c.116C>T (p.Ala39Val) | not provided [RCV002617782] | benign | 1 | 26696519 | 26696519 | Human | | name |
| 156397562 | CV1985358 | single nucleotide variant | NM_006015.6(ARID1A):c.2067G>A (p.Leu689=) | not provided [RCV002635653] | likely benign | 1 | 26761002 | 26761002 | Human | | name |
| 156293008 | CV2009842 | single nucleotide variant | NM_006015.6(ARID1A):c.1710C>T (p.Pro570=) | not provided [RCV002715731] | likely benign | 1 | 26731511 | 26731511 | Human | | name |
| 156084318 | CV2012141 | single nucleotide variant | NM_006015.6(ARID1A):c.2697C>T (p.Val899=) | not provided [RCV002706094] | likely benign | 1 | 26763250 | 26763250 | Human | | name |
| 156381205 | CV2060819 | single nucleotide variant | NM_006015.6(ARID1A):c.193C>T (p.Pro65Ser) | not provided [RCV002815098] | uncertain significance | 1 | 26696596 | 26696596 | Human | | name |
| 10406617 | CV206790 | deletion | NM_006015.6(ARID1A):c.394del (p.Val132fs) | Intellectual disability, autosomal dominant 14 [RCV000193411] | pathogenic | 1 | 26696794 | 26696794 | Human | 1 | name |
| 10405491 | CV206792 | single nucleotide variant | NM_006015.6(ARID1A):c.1329C>T (p.Gly443=) | not provided [RCV002517912]|not specified [RCV000194282] | likely benign|uncertain significance | 1 | 26729842 | 26729842 | Human | | name |
| 155980569 | CV2073936 | single nucleotide variant | NM_006015.6(ARID1A):c.2280C>T (p.Pro760=) | not provided [RCV002842496] | likely benign | 1 | 26762180 | 26762180 | Human | | name |
| 156219218 | CV2087561 | single nucleotide variant | NM_006015.6(ARID1A):c.2448T>C (p.Asn816=) | not provided [RCV002875801] | likely benign | 1 | 26763001 | 26763001 | Human | | name |
| 156299339 | CV2119411 | single nucleotide variant | NM_006015.6(ARID1A):c.2799G>T (p.Gly933=) | not provided [RCV002962067] | likely benign | 1 | 26766287 | 26766287 | Human | | name |
| 156161841 | CV2135398 | single nucleotide variant | NM_006015.6(ARID1A):c.2673C>T (p.Asn891=) | not provided [RCV002983035] | likely benign | 1 | 26763226 | 26763226 | Human | | name |
| 156216188 | CV2136052 | single nucleotide variant | NM_006015.6(ARID1A):c.1206G>A (p.Ser402=) | not provided [RCV003007190] | likely benign | 1 | 26729719 | 26729719 | Human | | name |
| 156250664 | CV2157513 | single nucleotide variant | NM_006015.6(ARID1A):c.2694T>C (p.Ala898=) | not provided [RCV003008431] | likely benign | 1 | 26763247 | 26763247 | Human | | name |
| 156275627 | CV2187703 | single nucleotide variant | NM_006015.6(ARID1A):c.2619C>T (p.Ala873=) | not provided [RCV003044608] | likely benign | 1 | 26763172 | 26763172 | Human | | name |
| 155969352 | CV2262104 | single nucleotide variant | NM_006015.6(ARID1A):c.202C>T (p.Pro68Ser) | Inborn genetic diseases [RCV002817560] | uncertain significance | 1 | 26696605 | 26696605 | Human | 1 | name |
| 156260392 | CV2277914 | single nucleotide variant | NM_006015.6(ARID1A):c.289G>C (p.Glu97Gln) | Inborn genetic diseases [RCV002855384] | uncertain significance | 1 | 26696692 | 26696692 | Human | 1 | name |
| 243063457 | CV2411777 | single nucleotide variant | NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu) | Intellectual disability, autosomal dominant 14 [RCV003141500] | uncertain significance | 1 | 26696606 | 26696606 | Human | 1 | name |
| 329351193 | CV2476374 | single nucleotide variant | NM_006015.6(ARID1A):c.1362T>C (p.Tyr454=) | not provided [RCV003222606] | likely benign | 1 | 26731163 | 26731163 | Human | | name |
| 401775822 | CV2692503 | single nucleotide variant | NM_006015.6(ARID1A):c.187G>T (p.Val63Leu) | Inborn genetic diseases [RCV003286222] | uncertain significance | 1 | 26696590 | 26696590 | Human | 1 | name |
| 401796784 | CV2739758 | single nucleotide variant | NM_006015.6(ARID1A):c.275G>A (p.Gly92Asp) | not provided [RCV003319719] | uncertain significance | 1 | 26696678 | 26696678 | Human | | name |
| 401829196 | CV2747276 | single nucleotide variant | NM_006015.6(ARID1A):c.221A>C (p.Gln74Pro) | not provided [RCV003328741] | uncertain significance | 1 | 26696624 | 26696624 | Human | | name |
| 401912297 | CV2795963 | single nucleotide variant | NM_006015.6(ARID1A):c.2109C>A (p.Pro703=) | ARID1A-related disorder [RCV003399699]|not provided [RCV003778190] | likely benign|uncertain significance | 1 | 26761044 | 26761044 | Human | 1 | name , alternate_id |
| 401913338 | CV2797242 | single nucleotide variant | NM_006015.6(ARID1A):c.161C>T (p.Ala54Val) | ARID1A-related disorder [RCV003427828]|not provided [RCV003778278] | uncertain significance | 1 | 26696564 | 26696564 | Human | 1 | name , alternate_id |
| 401935496 | CV2812514 | single nucleotide variant | NM_006015.6(ARID1A):c.1101C>T (p.Ser367=) | not provided [RCV003412952] | benign|likely benign | 1 | 26697504 | 26697504 | Human | | name |
| 401935497 | CV2812515 | single nucleotide variant | NM_006015.6(ARID1A):c.1224G>A (p.Pro408=) | not provided [RCV003412953] | likely benign | 1 | 26729737 | 26729737 | Human | | name |
| 401935498 | CV2812516 | single nucleotide variant | NM_006015.6(ARID1A):c.1473C>T (p.Ser491=) | not provided [RCV003412954] | likely benign | 1 | 26731274 | 26731274 | Human | | name |
| 401935499 | CV2812517 | single nucleotide variant | NM_006015.6(ARID1A):c.2241C>T (p.Ala747=) | not provided [RCV003412955] | uncertain significance | 1 | 26761463 | 26761463 | Human | | name |
| 401935500 | CV2812518 | single nucleotide variant | NM_006015.6(ARID1A):c.2388T>C (p.Tyr796=) | not provided [RCV003412956] | likely benign | 1 | 26762288 | 26762288 | Human | | name |
| 401917049 | CV2829635 | single nucleotide variant | NM_006015.6(ARID1A):c.213G>T (p.Lys71Asn) | not provided [RCV003443679] | uncertain significance | 1 | 26696616 | 26696616 | Human | | name |
| 404978345 | CV2849634 | single nucleotide variant | NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg) | Intellectual disability, autosomal dominant 14 [RCV003487075] | uncertain significance | 1 | 26696673 | 26696673 | Human | 1 | name |
| 402514127 | CV2855496 | single nucleotide variant | NM_006015.6(ARID1A):c.1650C>T (p.Pro550=) | not provided [RCV003547262] | likely benign | 1 | 26731451 | 26731451 | Human | | name |
| 402482323 | CV2860600 | single nucleotide variant | NM_006015.6(ARID1A):c.2760A>G (p.Gln920=) | not provided [RCV003544153] | likely benign | 1 | 26766248 | 26766248 | Human | | name |
| 405092166 | CV2878146 | single nucleotide variant | NM_006015.6(ARID1A):c.200A>G (p.Gln67Arg) | not provided [RCV003549977] | uncertain significance | 1 | 26696603 | 26696603 | Human | | name |
| 405147956 | CV2881779 | single nucleotide variant | NM_006015.6(ARID1A):c.1800G>A (p.Pro600=) | not provided [RCV003561510] | likely benign | 1 | 26731601 | 26731601 | Human | | name |
| 402483889 | CV2922256 | single nucleotide variant | NM_006015.6(ARID1A):c.1692A>G (p.Gln564=) | not provided [RCV003572347] | likely benign | 1 | 26731493 | 26731493 | Human | | name |
| 402483911 | CV2922258 | single nucleotide variant | NM_006015.6(ARID1A):c.1695T>A (p.Pro565=) | not provided [RCV003572349] | likely benign | 1 | 26731496 | 26731496 | Human | | name |
| 405033523 | CV2922771 | single nucleotide variant | NM_006015.6(ARID1A):c.202C>A (p.Pro68Thr) | not provided [RCV003578538] | uncertain significance | 1 | 26696605 | 26696605 | Human | | name |
| 405087777 | CV2943340 | single nucleotide variant | NM_006015.6(ARID1A):c.277G>C (p.Gly93Arg) | not provided [RCV003665071] | benign | 1 | 26696680 | 26696680 | Human | | name |
| 402491936 | CV2945767 | single nucleotide variant | NM_006015.6(ARID1A):c.1431C>T (p.His477=) | not provided [RCV003660629] | likely benign | 1 | 26731232 | 26731232 | Human | | name |
| 405149601 | CV2959606 | single nucleotide variant | NM_006015.6(ARID1A):c.1098C>T (p.Ser366=) | not provided [RCV003673906] | likely benign | 1 | 26697501 | 26697501 | Human | | name |
| 405133237 | CV2961202 | single nucleotide variant | NM_006015.6(ARID1A):c.133G>A (p.Ala45Thr) | not provided [RCV003672593] | uncertain significance | 1 | 26696536 | 26696536 | Human | | name |
| 405172179 | CV2961444 | single nucleotide variant | NM_006015.6(ARID1A):c.2382G>A (p.Gly794=) | not provided [RCV003675508] | likely benign | 1 | 26762282 | 26762282 | Human | | name |
| 405240494 | CV2973914 | single nucleotide variant | NM_006015.6(ARID1A):c.2391T>G (p.Gly797=) | not provided [RCV003683960] | likely benign | 1 | 26762291 | 26762291 | Human | | name |
| 405229679 | CV2977347 | single nucleotide variant | NM_006015.6(ARID1A):c.1920T>G (p.Pro640=) | not provided [RCV003711302] | benign | 1 | 26732792 | 26732792 | Human | | name |
| 405239087 | CV2983307 | single nucleotide variant | NM_006015.6(ARID1A):c.2286C>T (p.Tyr762=) | not provided [RCV003683631] | uncertain significance | 1 | 26762186 | 26762186 | Human | | name |
| 405120732 | CV2994090 | single nucleotide variant | NM_006015.6(ARID1A):c.2580C>T (p.His860=) | not provided [RCV003723863] | benign | 1 | 26763133 | 26763133 | Human | | name |
| 405076315 | CV3031676 | single nucleotide variant | NM_006015.6(ARID1A):c.1341T>C (p.Tyr447=) | not provided [RCV003698617] | likely benign | 1 | 26729854 | 26729854 | Human | | name |
| 405208641 | CV3037228 | single nucleotide variant | NM_006015.6(ARID1A):c.139C>T (p.Arg47Cys) | not provided [RCV003708340] | uncertain significance | 1 | 26696542 | 26696542 | Human | | name |
| 405195694 | CV3037600 | single nucleotide variant | NM_006015.6(ARID1A):c.194C>T (p.Pro65Leu) | not provided [RCV003706889] | uncertain significance | 1 | 26696597 | 26696597 | Human | | name |
| 405235941 | CV3037980 | single nucleotide variant | NM_006015.6(ARID1A):c.106G>A (p.Gly36Arg) | not provided [RCV003712359] | uncertain significance | 1 | 26696509 | 26696509 | Human | | name |
| 405090206 | CV3044749 | single nucleotide variant | NM_006015.6(ARID1A):c.2367G>A (p.Gln789=) | not provided [RCV003717764] | likely benign | 1 | 26762267 | 26762267 | Human | | name |
| 405253828 | CV3048331 | single nucleotide variant | NM_006015.6(ARID1A):c.1008T>C (p.Cys336=) | not provided [RCV003722626] | likely benign | 1 | 26697411 | 26697411 | Human | | name |
| 405134739 | CV3051953 | single nucleotide variant | NM_006015.6(ARID1A):c.2325G>A (p.Gln775=) | not provided [RCV003725137] | benign | 1 | 26762225 | 26762225 | Human | | name |
| 405146143 | CV3052288 | single nucleotide variant | NM_006015.6(ARID1A):c.2841A>G (p.Pro947=) | not provided [RCV003726001] | likely benign | 1 | 26766329 | 26766329 | Human | | name |
| 405162758 | CV3062741 | single nucleotide variant | NM_006015.6(ARID1A):c.140G>A (p.Arg47His) | not provided [RCV003727216] | benign | 1 | 26696543 | 26696543 | Human | | name |
| 405103892 | CV3116384 | single nucleotide variant | NM_006015.6(ARID1A):c.1626G>A (p.Gln542=) | not provided [RCV003812100] | likely benign | 1 | 26731427 | 26731427 | Human | | name |
| 405187140 | CV3120555 | single nucleotide variant | NM_006015.6(ARID1A):c.1236G>A (p.Gln412=) | not provided [RCV003820637] | benign | 1 | 26729749 | 26729749 | Human | | name |
| 405163264 | CV3125241 | single nucleotide variant | NM_006015.6(ARID1A):c.2790T>C (p.Tyr930=) | ARID1A-related disorder [RCV003893417]|not provided [RCV003818513] | likely benign | 1 | 26766278 | 26766278 | Human | 1 | name , alternate_id |
| 405119107 | CV3134789 | single nucleotide variant | NM_006015.6(ARID1A):c.1293G>A (p.Pro431=) | not provided [RCV003837199] | likely benign | 1 | 26729806 | 26729806 | Human | | name |
| 405052827 | CV3138393 | single nucleotide variant | NM_006015.6(ARID1A):c.284G>A (p.Gly95Asp) | not provided [RCV003832237] | benign | 1 | 26696687 | 26696687 | Human | | name |
| 405069953 | CV3140249 | single nucleotide variant | NM_006015.6(ARID1A):c.1191G>A (p.Gly397=) | not provided [RCV003833404] | likely benign | 1 | 26729704 | 26729704 | Human | | name |
| 405143510 | CV3141351 | single nucleotide variant | NM_006015.6(ARID1A):c.2763G>T (p.Gly921=) | not provided [RCV003839467] | likely benign | 1 | 26766251 | 26766251 | Human | | name |
| 405190697 | CV3157021 | single nucleotide variant | NM_006015.6(ARID1A):c.2685A>G (p.Gln895=) | not provided [RCV003859709] | likely benign | 1 | 26763238 | 26763238 | Human | | name |
| 405221091 | CV3157864 | single nucleotide variant | NM_006015.6(ARID1A):c.1074C>T (p.His358=) | not provided [RCV003863556] | likely benign | 1 | 26697477 | 26697477 | Human | | name |
| 405245749 | CV3158101 | single nucleotide variant | NM_006015.6(ARID1A):c.190G>A (p.Gly64Arg) | not provided [RCV003868636] | uncertain significance | 1 | 26696593 | 26696593 | Human | | name |
| 405209559 | CV3162606 | single nucleotide variant | NM_006015.6(ARID1A):c.2331C>T (p.Ser777=) | not provided [RCV003861905] | likely benign | 1 | 26762231 | 26762231 | Human | | name |
| 405259872 | CV3186457 | single nucleotide variant | NM_006015.6(ARID1A):c.2550T>C (p.Tyr850=) | not provided [RCV003884216] | likely benign | 1 | 26763103 | 26763103 | Human | | name |
| 405283403 | CV3218564 | single nucleotide variant | NM_006015.6(ARID1A):c.196C>T (p.Pro66Ser) | ARID1A-related disorder [RCV003957346]|not provided [RCV005102960] | benign|likely benign | 1 | 26696599 | 26696599 | Human | 1 | name , alternate_id |
| 405684202 | CV3235497 | duplication | NM_006015.6(ARID1A):c.476dup (p.Ala160fs) | Intellectual disability, autosomal dominant 14 [RCV004372011] | pathogenic | 1 | 26696878 | 26696879 | Human | 1 | name |
| 408381183 | CV3501421 | single nucleotide variant | NM_006015.6(ARID1A):c.2877A>T (p.Ala959=) | not provided [RCV004727510] | uncertain significance | 1 | 26766365 | 26766365 | Human | | name |
| 408374419 | CV3516104 | single nucleotide variant | NM_006015.6(ARID1A):c.2961G>T (p.Gly987=) | ARID1A-related disorder [RCV004746728]|not provided [RCV005103865] | likely benign | 1 | 26766539 | 26766539 | Human | 1 | name , alternate_id |
| 408388117 | CV3527366 | single nucleotide variant | NM_006015.6(ARID1A):c.272G>A (p.Gly91Asp) | not provided [RCV004773669] | uncertain significance | 1 | 26696675 | 26696675 | Human | | name |
| 408390506 | CV3527587 | single nucleotide variant | NM_006015.6(ARID1A):c.283G>A (p.Gly95Ser) | not provided [RCV004774854] | uncertain significance | 1 | 26696686 | 26696686 | Human | | name |
| 596927399 | CV3532581 | single nucleotide variant | NM_006015.6(ARID1A):c.295G>T (p.Asp99Tyr) | not provided [RCV004778679] | uncertain significance | 1 | 26696698 | 26696698 | Human | | name |
| 596943486 | CV3542957 | single nucleotide variant | NM_006015.6(ARID1A):c.216G>C (p.Glu72Asp) | not provided [RCV004798542] | uncertain significance | 1 | 26696619 | 26696619 | Human | | name |
| 597660959 | CV3712675 | single nucleotide variant | NM_006015.6(ARID1A):c.260G>C (p.Gly87Ala) | Intellectual disability, autosomal dominant 14 [RCV005028437] | uncertain significance | 1 | 26696663 | 26696663 | Human | 1 | name |
| 597845337 | CV3736272 | single nucleotide variant | NM_006015.6(ARID1A):c.2736G>A (p.Pro912=) | not provided [RCV005065620] | likely benign | 1 | 26766224 | 26766224 | Human | | name |
| 597839833 | CV3737105 | single nucleotide variant | NM_006015.6(ARID1A):c.2142C>T (p.Leu714=) | not provided [RCV005064585] | likely benign | 1 | 26761077 | 26761077 | Human | | name |
| 597916258 | CV3737391 | single nucleotide variant | NM_006015.6(ARID1A):c.2778T>C (p.Thr926=) | not provided [RCV005074180] | benign | 1 | 26766266 | 26766266 | Human | | name |
| 597907734 | CV3738936 | single nucleotide variant | NM_006015.6(ARID1A):c.2145G>A (p.Ser715=) | not provided [RCV005073171] | likely benign | 1 | 26761080 | 26761080 | Human | | name |
| 597932986 | CV3742708 | single nucleotide variant | NM_006015.6(ARID1A):c.2907C>T (p.Gly969=) | not provided [RCV005076147] | likely benign | 1 | 26766485 | 26766485 | Human | | name |
| 597873091 | CV3747261 | single nucleotide variant | NM_006015.6(ARID1A):c.2511C>T (p.Ala837=) | not provided [RCV005068945] | benign | 1 | 26763064 | 26763064 | Human | | name |
| 597928239 | CV3749112 | single nucleotide variant | NM_006015.6(ARID1A):c.2256T>C (p.Tyr752=) | not provided [RCV005075568] | likely benign | 1 | 26762156 | 26762156 | Human | | name |
| 597970062 | CV3753554 | single nucleotide variant | NM_006015.6(ARID1A):c.2400G>T (p.Gly800=) | not provided [RCV005084039] | benign | 1 | 26762300 | 26762300 | Human | | name |
| 597890480 | CV3762878 | single nucleotide variant | NM_006015.6(ARID1A):c.2544A>G (p.Pro848=) | not provided [RCV005110651] | likely benign | 1 | 26763097 | 26763097 | Human | | name |
| 597944478 | CV3782837 | single nucleotide variant | NM_006015.6(ARID1A):c.1776T>C (p.Tyr592=) | not provided [RCV005134377] | likely benign | 1 | 26731577 | 26731577 | Human | | name |
| 597972319 | CV3790236 | single nucleotide variant | NM_006015.6(ARID1A):c.1623A>G (p.Thr541=) | not provided [RCV005142659] | likely benign | 1 | 26731424 | 26731424 | Human | | name |
| 597892511 | CV3809802 | single nucleotide variant | NM_006015.6(ARID1A):c.1119G>T (p.Pro373=) | not provided [RCV005151523] | likely benign | 1 | 26697522 | 26697522 | Human | | name |
| 597879921 | CV3810195 | single nucleotide variant | NM_006015.6(ARID1A):c.217C>G (p.Leu73Val) | not provided [RCV005149657] | benign | 1 | 26696620 | 26696620 | Human | | name |
| 597935528 | CV3811352 | single nucleotide variant | NM_006015.6(ARID1A):c.2289T>C (p.Ser763=) | not provided [RCV005157867] | likely benign | 1 | 26762189 | 26762189 | Human | | name |
| 597947652 | CV3817926 | single nucleotide variant | NM_006015.6(ARID1A):c.2307A>T (p.Ser769=) | not provided [RCV005160393] | likely benign | 1 | 26762207 | 26762207 | Human | | name |
| 597881411 | CV3826520 | single nucleotide variant | NM_006015.6(ARID1A):c.1047C>T (p.Ala349=) | not provided [RCV005178217] | likely benign | 1 | 26697450 | 26697450 | Human | | name |
| 597964520 | CV3830531 | single nucleotide variant | NM_006015.6(ARID1A):c.1560G>A (p.Gln520=) | not provided [RCV005164671] | benign | 1 | 26731361 | 26731361 | Human | | name |
| 597956300 | CV3838182 | single nucleotide variant | NM_006015.6(ARID1A):c.1392A>G (p.Gln464=) | not provided [RCV005191557] | likely benign | 1 | 26731193 | 26731193 | Human | | name |
| 597933881 | CV3844771 | single nucleotide variant | NM_006015.6(ARID1A):c.2646G>A (p.Gly882=) | not provided [RCV005186277] | benign | 1 | 26763199 | 26763199 | Human | | name |
| 597934927 | CV3845148 | single nucleotide variant | NM_006015.6(ARID1A):c.1602C>T (p.Tyr534=) | not provided [RCV005186461] | likely benign | 1 | 26731403 | 26731403 | Human | | name |
| 597937677 | CV3852654 | single nucleotide variant | NM_006015.6(ARID1A):c.1290C>T (p.Tyr430=) | not provided [RCV005187053] | likely benign | 1 | 26729803 | 26729803 | Human | | name |
| 598160767 | CV3897923 | single nucleotide variant | NM_006015.6(ARID1A):c.158C>G (p.Ala53Gly) | Inborn genetic diseases [RCV005261263] | uncertain significance | 1 | 26696561 | 26696561 | Human | 1 | name |
| 13216476 | CV427764 | single nucleotide variant | NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser) | not provided [RCV001569468]|not specified [RCV000503812] | benign|likely benign|uncertain significance | 1 | 26696642 | 26696642 | Human | | name |
| 13216520 | CV427768 | single nucleotide variant | NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) | Intellectual disability, autosomal dominant 14 [RCV002259971]|not provided [RCV002056837]|not specified [RCV000503870] | benign|likely benign | 1 | 26696671 | 26696671 | Human | 1 | name |
| 13215826 | CV427782 | single nucleotide variant | NM_006015.6(ARID1A):c.2139A>G (p.Pro713=) | Intellectual disability, autosomal dominant 14 [RCV002259973]|not provided [RCV000893350]|not specified [RCV000502991] | benign|likely benign | 1 | 26761074 | 26761074 | Human | 1 | name |
| 13213084 | CV427786 | single nucleotide variant | NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) | Intellectual disability, autosomal dominant 14 [RCV002259974]|not provided [RCV001618713]|not specified [RCV000499591] | benign|likely benign | 1 | 26763094 | 26763094 | Human | 1 | name |
| 13462722 | CV439051 | single nucleotide variant | NM_006015.6(ARID1A):c.193C>G (p.Pro65Ala) | not provided [RCV000514692] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26696596 | 26696596 | Human | | name |
| 15192873 | CV718878 | single nucleotide variant | NM_006015.6(ARID1A):c.1131C>T (p.Thr377=) | Intellectual disability, autosomal dominant 14 [RCV002260099]|not provided [RCV000888785] | benign | 1 | 26697534 | 26697534 | Human | 1 | name |
| 15182302 | CV718879 | single nucleotide variant | NM_006015.6(ARID1A):c.1188C>T (p.Gly396=) | Intellectual disability, autosomal dominant 14 [RCV002260097]|not provided [RCV000885961] | benign|likely benign | 1 | 26729701 | 26729701 | Human | 1 | name |
| 15160953 | CV732354 | single nucleotide variant | NM_006015.6(ARID1A):c.1807C>T (p.Leu603=) | not provided [RCV000903250] | likely benign | 1 | 26732679 | 26732679 | Human | | name |
| 38598984 | CV964993 | single nucleotide variant | NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg) | Intellectual disability, autosomal dominant 14 [RCV001254354] | uncertain significance | 1 | 26696566 | 26696566 | Human | 1 | name |
| 41408183 | CV980904 | single nucleotide variant | NM_006015.6(ARID1A):c.1113G>A (p.Gly371=) | Intellectual disability, autosomal dominant 14 [RCV001283776] | uncertain significance | 1 | 26697516 | 26697516 | Human | 1 | name |
| 126743353 | CV1015706 | single nucleotide variant | NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg) | Intellectual disability, autosomal dominant 14 [RCV001330182] | uncertain significance | 1 | 26696729 | 26696729 | Human | 1 | name |
| 127261647 | CV1087301 | single nucleotide variant | NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe) | Intellectual disability, autosomal dominant 14 [RCV001420542] | uncertain significance | 1 | 26697167 | 26697167 | Human | 1 | name |
| 150337928 | CV1166617 | deletion | NM_006015.6(ARID1A):c.2914del (p.Asp972fs) | ARID1A-related BAFopathy [RCV001533076] | pathogenic | 1 | 26766489 | 26766489 | Human | | name , trait |
| 150422581 | CV1179245 | single nucleotide variant | NM_006015.6(ARID1A):c.6582C>T (p.Asn2194=) | not provided [RCV001552835] | likely benign | 1 | 26780480 | 26780480 | Human | | name |
| 150425236 | CV1182909 | single nucleotide variant | NM_006015.6(ARID1A):c.4947A>G (p.Thr1649=) | not provided [RCV001557744] | benign|likely benign | 1 | 26775174 | 26775174 | Human | | name |
| 150427875 | CV1186172 | single nucleotide variant | NM_006015.6(ARID1A):c.376G>A (p.Gly126Ser) | not provided [RCV001561506] | benign|likely benign | 1 | 26696779 | 26696779 | Human | | name |
| 150426637 | CV1186173 | single nucleotide variant | NM_006015.6(ARID1A):c.482T>C (p.Val161Ala) | not provided [RCV001559829] | likely benign | 1 | 26696885 | 26696885 | Human | | name |
| 150427785 | CV1186179 | single nucleotide variant | NM_006015.6(ARID1A):c.6807A>G (p.Ser2269=) | not provided [RCV001561389] | likely benign | 1 | 26780705 | 26780705 | Human | | name |
| 150419392 | CV1196603 | single nucleotide variant | NM_006015.6(ARID1A):c.3978G>A (p.Pro1326=) | not provided [RCV001577157]|not specified [RCV001821913] | likely benign | 1 | 26773691 | 26773691 | Human | | name |
| 150415146 | CV1196604 | single nucleotide variant | NM_006015.6(ARID1A):c.6708C>T (p.Arg2236=) | ARID1A-related disorder [RCV003956270]|not provided [RCV001575268] | likely benign | 1 | 26780606 | 26780606 | Human | 1 | name , alternate_id |
| 150457181 | CV1202588 | single nucleotide variant | NM_006015.6(ARID1A):c.865C>T (p.Pro289Ser) | not provided [RCV001586241] | benign|likely benign | 1 | 26697268 | 26697268 | Human | | name |
| 150513763 | CV1213876 | single nucleotide variant | NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu) | Intellectual disability, autosomal dominant 14 [RCV003645890]|not provided [RCV001598612] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 26696840 | 26696840 | Human | 1 | name |
| 150461642 | CV1214538 | single nucleotide variant | NM_006015.6(ARID1A):c.4563C>T (p.Pro1521=) | not provided [RCV001613531] | benign|likely benign | 1 | 26774790 | 26774790 | Human | | name |
| 150436476 | CV1221847 | single nucleotide variant | NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=) | Intellectual disability, autosomal dominant 14 [RCV002260229]|not provided [RCV001609539]|not specified [RCV001821929] | benign|likely benign | 1 | 26775006 | 26775006 | Human | 1 | name |
| 150451478 | CV1232807 | single nucleotide variant | NM_006015.6(ARID1A):c.4560C>T (p.Gly1520=) | not provided [RCV001647882]|not specified [RCV003151342] | benign|likely benign | 1 | 26774787 | 26774787 | Human | | name |
| 150475643 | CV1239767 | single nucleotide variant | NM_006015.6(ARID1A):c.547G>A (p.Ala183Thr) | not provided [RCV001651944] | benign | 1 | 26696950 | 26696950 | Human | | name |
| 150434447 | CV1243953 | single nucleotide variant | NM_006015.6(ARID1A):c.439G>C (p.Ala147Pro) | not provided [RCV001665160] | likely benign|conflicting interpretations of pathogenicity | 1 | 26696842 | 26696842 | Human | | name |
| 150508367 | CV1244814 | single nucleotide variant | NM_006015.6(ARID1A):c.4773G>T (p.Leu1591=) | not provided [RCV001659063] | likely benign | 1 | 26775000 | 26775000 | Human | | name |
| 150439452 | CV1247721 | single nucleotide variant | NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=) | ARID1A-related disorder [RCV003948662]|Intellectual disability, autosomal dominant 14 [RCV002260275]|not provided [RCV001666088] | benign|likely benign | 1 | 26775096 | 26775096 | Human | 1 | name , alternate_id |
| 150493176 | CV1257501 | single nucleotide variant | NM_006015.6(ARID1A):c.4542G>A (p.Thr1514=) | ARID1A-related disorder [RCV003910955]|not provided [RCV001675174] | benign|likely benign | 1 | 26774769 | 26774769 | Human | 1 | name , alternate_id |
| 150487363 | CV1262728 | single nucleotide variant | NM_006015.6(ARID1A):c.4152C>T (p.His1384=) | Intellectual disability, autosomal dominant 14 [RCV002260326]|not provided [RCV001687126] | benign|likely benign | 1 | 26774379 | 26774379 | Human | 1 | name |
| 150487437 | CV1262740 | single nucleotide variant | NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=) | Intellectual disability, autosomal dominant 14 [RCV002260327]|not provided [RCV001687138] | benign | 1 | 26773583 | 26773583 | Human | 1 | name |
| 150483566 | CV1263011 | single nucleotide variant | NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) | ARID1A-related disorder [RCV003941072]|Intellectual disability, autosomal dominant 14 [RCV002260319]|not provided [RCV001686411] | benign|likely benign | 1 | 26696776 | 26696776 | Human | 1 | name , alternate_id |
| 150483645 | CV1263024 | single nucleotide variant | NM_006015.6(ARID1A):c.5934C>T (p.Ala1978=) | not provided [RCV001686424] | benign | 1 | 26779832 | 26779832 | Human | | name |
| 150489823 | CV1267509 | single nucleotide variant | NM_006015.6(ARID1A):c.6444T>C (p.Tyr2148=) | not provided [RCV001687533] | benign | 1 | 26780342 | 26780342 | Human | | name |
| 150463437 | CV1273153 | single nucleotide variant | NM_006015.6(ARID1A):c.3972C>T (p.Tyr1324=) | not provided [RCV001693910] | benign|likely benign | 1 | 26773685 | 26773685 | Human | | name |
| 150528370 | CV1288274 | single nucleotide variant | NM_006015.6(ARID1A):c.791C>A (p.Ser264Ter) | not provided [RCV001726742] | likely pathogenic | 1 | 26697194 | 26697194 | Human | | name |
| 150540721 | CV1296117 | single nucleotide variant | NM_006015.6(ARID1A):c.4101G>A (p.Gln1367=) | Neurodevelopmental delay [RCV002274203]|not provided [RCV001760586] | likely pathogenic|uncertain significance | 1 | 26773898 | 26773898 | Human | 1 | name |
| 150555487 | CV1297963 | single nucleotide variant | NM_006015.6(ARID1A):c.488C>T (p.Ala163Val) | not provided [RCV001772871] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26696891 | 26696891 | Human | | name |
| 150541715 | CV1301573 | single nucleotide variant | NM_006015.6(ARID1A):c.935C>G (p.Pro312Arg) | not provided [RCV001761039] | likely benign|uncertain significance | 1 | 26697338 | 26697338 | Human | | name |
| 150528236 | CV1301758 | single nucleotide variant | NM_006015.6(ARID1A):c.433C>T (p.Pro145Ser) | not provided [RCV001755130] | uncertain significance | 1 | 26696836 | 26696836 | Human | | name |
| 150556851 | CV1305817 | single nucleotide variant | NM_006015.6(ARID1A):c.6027C>T (p.Leu2009=) | not provided [RCV001774802] | likely benign | 1 | 26779925 | 26779925 | Human | | name |
| 150557023 | CV1310347 | single nucleotide variant | NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter) | ARID1A-related disorder [RCV003401706]|Intellectual disability, autosomal dominant 14 [RCV001775275] | likely pathogenic | 1 | 26696998 | 26696998 | Human | 1 | name , alternate_id |
| 8591196 | CV131842 | single nucleotide variant | NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=) | Intellectual disability, autosomal dominant 14 [RCV002259600]|not provided [RCV000884379]|not specified [RCV000114253] | benign|likely benign | 1 | 26775584 | 26775584 | Human | 1 | name |
| 151354618 | CV1327685 | single nucleotide variant | NM_006015.6(ARID1A):c.3519C>T (p.Ile1173=) | not specified [RCV001819160] | uncertain significance | 1 | 26772612 | 26772612 | Human | | name |
| 151356173 | CV1328937 | single nucleotide variant | NM_006015.6(ARID1A):c.6252C>G (p.Val2084=) | not provided [RCV003772328]|not specified [RCV001822526] | likely benign | 1 | 26780150 | 26780150 | Human | | name |
| 151356206 | CV1328970 | single nucleotide variant | NM_006015.6(ARID1A):c.587C>T (p.Ala196Val) | Inborn genetic diseases [RCV003375365]|not specified [RCV001822559] | uncertain significance | 1 | 26696990 | 26696990 | Human | 1 | name |
| 151356271 | CV1329035 | single nucleotide variant | NM_006015.6(ARID1A):c.3816G>A (p.Ala1272=) | not provided [RCV003772335]|not specified [RCV001822624] | benign|likely benign | 1 | 26773446 | 26773446 | Human | | name |
| 151354277 | CV1329410 | single nucleotide variant | NM_006015.6(ARID1A):c.666C>G (p.Tyr222Ter) | not provided [RCV001817773] | pathogenic | 1 | 26697069 | 26697069 | Human | | name |
| 151759205 | CV1349945 | single nucleotide variant | NM_006015.6(ARID1A):c.856A>G (p.Thr286Ala) | not provided [RCV001987066] | benign|uncertain significance | 1 | 26697259 | 26697259 | Human | | name |
| 151856667 | CV1377373 | single nucleotide variant | NM_006015.6(ARID1A):c.535C>G (p.Pro179Ala) | not provided [RCV001923482] | uncertain significance | 1 | 26696938 | 26696938 | Human | | name |
| 151712114 | CV1400230 | single nucleotide variant | NM_006015.6(ARID1A):c.854G>A (p.Gly285Glu) | not provided [RCV002002194] | uncertain significance | 1 | 26697257 | 26697257 | Human | | name |
| 151763580 | CV1403036 | single nucleotide variant | NM_006015.6(ARID1A):c.914C>T (p.Ala305Val) | not provided [RCV001914269] | uncertain significance | 1 | 26697317 | 26697317 | Human | | name |
| 151782263 | CV1422258 | single nucleotide variant | NM_006015.6(ARID1A):c.359C>T (p.Pro120Leu) | not provided [RCV001972189] | benign|uncertain significance | 1 | 26696762 | 26696762 | Human | | name |
| 151828917 | CV1453280 | single nucleotide variant | NM_006015.6(ARID1A):c.361C>T (p.Pro121Ser) | not provided [RCV002050530] | uncertain significance | 1 | 26696764 | 26696764 | Human | | name |
| 151769954 | CV1502373 | single nucleotide variant | NM_006015.6(ARID1A):c.385A>T (p.Ser129Cys) | not provided [RCV001896238] | benign|uncertain significance | 1 | 26696788 | 26696788 | Human | | name |
| 151881432 | CV1504191 | single nucleotide variant | NM_006015.6(ARID1A):c.328A>G (p.Arg110Gly) | Coffin-Siris syndrome 1 [RCV004784033]|not provided [RCV002020228] | uncertain significance | 1 | 26696731 | 26696731 | Human | 1 | name |
| 152084261 | CV1577002 | single nucleotide variant | NM_006015.6(ARID1A):c.6291T>G (p.Ala2097=) | not provided [RCV002193423] | likely benign | 1 | 26780189 | 26780189 | Human | | name |
| 152128426 | CV1583753 | single nucleotide variant | NM_006015.6(ARID1A):c.5880C>T (p.His1960=) | not provided [RCV002198998] | likely benign | 1 | 26779778 | 26779778 | Human | | name |
| 152047887 | CV1614754 | single nucleotide variant | NM_006015.6(ARID1A):c.3111C>T (p.Gly1037=) | not provided [RCV002071811] | benign | 1 | 26767912 | 26767912 | Human | | name |
| 152140471 | CV1625141 | single nucleotide variant | NM_006015.6(ARID1A):c.4056C>T (p.Ser1352=) | not provided [RCV002219302] | likely benign | 1 | 26773853 | 26773853 | Human | | name |
| 152176176 | CV1628380 | single nucleotide variant | NM_006015.6(ARID1A):c.6711G>A (p.Ala2237=) | not provided [RCV002164318]|not specified [RCV005406388] | benign|likely benign | 1 | 26780609 | 26780609 | Human | | name |
| 152151364 | CV1631365 | single nucleotide variant | NM_006015.6(ARID1A):c.4659C>G (p.Pro1553=) | not provided [RCV002179501] | likely benign | 1 | 26774886 | 26774886 | Human | | name |
| 152030721 | CV1632287 | single nucleotide variant | NM_006015.6(ARID1A):c.6762C>T (p.Tyr2254=) | ARID1A-related disorder [RCV003916287]|not provided [RCV002124402] | likely benign | 1 | 26780660 | 26780660 | Human | 1 | name , alternate_id |
| 152071563 | CV1633796 | single nucleotide variant | NM_006015.6(ARID1A):c.331C>G (p.Pro111Ala) | not provided [RCV002191850] | benign | 1 | 26696734 | 26696734 | Human | | name |
| 152125484 | CV1646184 | single nucleotide variant | NM_006015.6(ARID1A):c.448T>C (p.Phe150Leu) | not provided [RCV002217344]|not specified [RCV005238228] | benign|likely benign|uncertain significance | 1 | 26696851 | 26696851 | Human | | name |
| 153349345 | CV1693140 | single nucleotide variant | NM_006015.6(ARID1A):c.380G>A (p.Gly127Asp) | not provided [RCV002275746] | uncertain significance | 1 | 26696783 | 26696783 | Human | | name |
| 155267094 | CV1696497 | single nucleotide variant | NM_006015.6(ARID1A):c.5245A>C (p.Arg1749=) | not provided [RCV002281355] | uncertain significance | 1 | 26779143 | 26779143 | Human | | name |
| 155265225 | CV1704684 | single nucleotide variant | NM_006015.6(ARID1A):c.323G>A (p.Gly108Asp) | not provided [RCV002284900] | uncertain significance | 1 | 26696726 | 26696726 | Human | | name |
| 155741804 | CV1770583 | deletion | NM_006015.6(ARID1A):c.2343del (p.His782fs) | Hepatocellular carcinoma [RCV002302808] | pathogenic | 1 | 26762243 | 26762243 | Human | 1 | name |
| 155740704 | CV1779765 | single nucleotide variant | NM_006015.6(ARID1A):c.734C>A (p.Ala245Glu) | not provided [RCV002302334] | uncertain significance | 1 | 26697137 | 26697137 | Human | | name |
| 155720318 | CV1781242 | single nucleotide variant | NM_006015.6(ARID1A):c.649C>G (p.Pro217Ala) | not provided [RCV002306318] | uncertain significance | 1 | 26697052 | 26697052 | Human | | name |
| 155803230 | CV1858006 | single nucleotide variant | NM_006015.6(ARID1A):c.422C>G (p.Ala141Gly) | not provided [RCV002461856] | uncertain significance | 1 | 26696825 | 26696825 | Human | | name |
| 155797878 | CV1860540 | single nucleotide variant | NM_006015.6(ARID1A):c.630C>G (p.His210Gln) | not provided [RCV002467182] | uncertain significance | 1 | 26697033 | 26697033 | Human | | name |
| 156409403 | CV1874126 | single nucleotide variant | NM_006015.6(ARID1A):c.3855T>C (p.Tyr1285=) | not provided [RCV003071659] | likely benign | 1 | 26773485 | 26773485 | Human | | name |
| 156360054 | CV1887646 | single nucleotide variant | NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser) | Inborn genetic diseases [RCV003250755]|not provided [RCV003091643] | benign|uncertain significance | 1 | 26696728 | 26696728 | Human | 1 | name |
| 156369063 | CV1887838 | single nucleotide variant | NM_006015.6(ARID1A):c.3945C>T (p.Asp1315=) | not provided [RCV003092276] | likely benign | 1 | 26773658 | 26773658 | Human | | name |
| 156317813 | CV1897592 | single nucleotide variant | NM_006015.6(ARID1A):c.649C>T (p.Pro217Ser) | Inborn genetic diseases [RCV002579053]|not provided [RCV002579054] | likely benign|uncertain significance | 1 | 26697052 | 26697052 | Human | 1 | name |
| 156357377 | CV1901292 | single nucleotide variant | NM_006015.6(ARID1A):c.949A>G (p.Ser317Gly) | Intellectual disability, autosomal dominant 14 [RCV004594670]|not provided [RCV002602261] | uncertain significance | 1 | 26697352 | 26697352 | Human | 1 | name |
| 156412760 | CV1904581 | single nucleotide variant | NM_006015.6(ARID1A):c.3081T>C (p.Tyr1027=) | not provided [RCV002587935] | likely benign | 1 | 26767882 | 26767882 | Human | | name |
| 156165824 | CV1907727 | single nucleotide variant | NM_006015.6(ARID1A):c.4347C>T (p.Gly1449=) | not provided [RCV003083068] | benign|likely benign | 1 | 26774574 | 26774574 | Human | | name |
| 156365610 | CV1908421 | single nucleotide variant | NM_006015.6(ARID1A):c.997G>T (p.Ala333Ser) | not provided [RCV002582041] | benign | 1 | 26697400 | 26697400 | Human | | name |
| 156210464 | CV1909714 | single nucleotide variant | NM_006015.6(ARID1A):c.6093T>C (p.Tyr2031=) | not provided [RCV002596042] | likely benign | 1 | 26779991 | 26779991 | Human | | name |
| 156020935 | CV1911414 | single nucleotide variant | NM_006015.6(ARID1A):c.5886G>A (p.Lys1962=) | not provided [RCV002636705] | benign | 1 | 26779784 | 26779784 | Human | | name |
| 156408004 | CV1911415 | single nucleotide variant | NM_006015.6(ARID1A):c.6588G>A (p.Leu2196=) | not provided [RCV002607082] | likely benign | 1 | 26780486 | 26780486 | Human | | name |
| 156274949 | CV1911806 | single nucleotide variant | NM_006015.6(ARID1A):c.6516C>T (p.Ala2172=) | not provided [RCV002628234] | benign | 1 | 26780414 | 26780414 | Human | | name |
| 156067668 | CV1927954 | single nucleotide variant | NM_006015.6(ARID1A):c.622C>T (p.Pro208Ser) | not provided [RCV002638497] | benign | 1 | 26697025 | 26697025 | Human | | name |
| 156215916 | CV1931124 | single nucleotide variant | NM_006015.6(ARID1A):c.6712C>T (p.Leu2238=) | not provided [RCV002644198] | likely benign | 1 | 26780610 | 26780610 | Human | | name |
| 156442191 | CV1938105 | single nucleotide variant | NM_006015.6(ARID1A):c.3948G>A (p.Ser1316=) | not provided [RCV003112530] | likely benign | 1 | 26773661 | 26773661 | Human | | name |
| 156434635 | CV1940142 | single nucleotide variant | NM_006015.6(ARID1A):c.421G>A (p.Ala141Thr) | not provided [RCV003104556] | uncertain significance | 1 | 26696824 | 26696824 | Human | | name |
| 156440502 | CV1943551 | single nucleotide variant | NM_006015.6(ARID1A):c.5745G>A (p.Leu1915=) | not provided [RCV003110537] | likely benign | 1 | 26779643 | 26779643 | Human | | name |
| 156444575 | CV1948303 | single nucleotide variant | NM_006015.6(ARID1A):c.6192C>T (p.Leu2064=) | not provided [RCV003115499] | likely benign | 1 | 26780090 | 26780090 | Human | | name |
| 156407873 | CV1957634 | single nucleotide variant | NM_006015.6(ARID1A):c.778T>G (p.Ser260Ala) | not provided [RCV002586350] | likely benign | 1 | 26697181 | 26697181 | Human | | name |
| 156140389 | CV1959678 | single nucleotide variant | NM_006015.6(ARID1A):c.317A>G (p.Asn106Ser) | Inborn genetic diseases [RCV002572550]|not provided [RCV002572549] | benign|uncertain significance | 1 | 26696720 | 26696720 | Human | 1 | name |
| 156409772 | CV1961950 | single nucleotide variant | NM_006015.6(ARID1A):c.4062C>T (p.Phe1354=) | ARID1A-related disorder [RCV003973431]|not provided [RCV002586932] | likely benign | 1 | 26773859 | 26773859 | Human | 1 | name , alternate_id |
| 156336726 | CV1976885 | single nucleotide variant | NM_006015.6(ARID1A):c.4818C>T (p.Phe1606=) | ARID1A-related disorder [RCV003973437]|not provided [RCV002601070] | likely benign | 1 | 26775045 | 26775045 | Human | 1 | name , alternate_id |
| 156249876 | CV1988500 | single nucleotide variant | NM_006015.6(ARID1A):c.481G>A (p.Val161Ile) | not provided [RCV002645860] | benign|likely benign | 1 | 26696884 | 26696884 | Human | | name |
| 156328908 | CV1990801 | single nucleotide variant | NM_006015.6(ARID1A):c.4500G>A (p.Gly1500=) | not provided [RCV002630816] | likely benign | 1 | 26774727 | 26774727 | Human | | name |
| 156091758 | CV1994383 | single nucleotide variant | NM_006015.6(ARID1A):c.6597A>G (p.Leu2199=) | not provided [RCV002639246] | likely benign | 1 | 26780495 | 26780495 | Human | | name |
| 156352736 | CV1994597 | single nucleotide variant | NM_006015.6(ARID1A):c.710G>C (p.Gly237Ala) | not provided [RCV002675708] | uncertain significance | 1 | 26697113 | 26697113 | Human | | name |
| 156099912 | CV2001004 | single nucleotide variant | NM_006015.6(ARID1A):c.6046C>T (p.Leu2016=) | not provided [RCV002639542] | likely benign | 1 | 26779944 | 26779944 | Human | | name |
| 156144205 | CV2002902 | single nucleotide variant | NM_006015.6(ARID1A):c.6189A>G (p.Thr2063=) | not provided [RCV002663678] | likely benign | 1 | 26780087 | 26780087 | Human | | name |
| 155914784 | CV2008179 | single nucleotide variant | NM_006015.6(ARID1A):c.3357A>G (p.Ala1119=) | not provided [RCV002681975] | benign | 1 | 26771277 | 26771277 | Human | | name |
| 156321462 | CV2022092 | single nucleotide variant | NM_006015.6(ARID1A):c.5097C>T (p.Asn1699=) | not provided [RCV002717118] | likely benign | 1 | 26775680 | 26775680 | Human | | name |
| 10405468 | CV206795 | single nucleotide variant | NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) | Intellectual disability, autosomal dominant 14 [RCV002259732]|not provided [RCV000890429]|not specified [RCV000193475] | benign|likely benign|uncertain significance | 1 | 26780484 | 26780484 | Human | 1 | name |
| 156151603 | CV2070342 | single nucleotide variant | NM_006015.6(ARID1A):c.5205G>A (p.Glu1735=) | not provided [RCV002850888] | likely benign | 1 | 26779103 | 26779103 | Human | | name |
| 156012935 | CV2071943 | single nucleotide variant | NM_006015.6(ARID1A):c.584A>T (p.Tyr195Phe) | not provided [RCV002843973] | uncertain significance | 1 | 26696987 | 26696987 | Human | | name |
| 155957435 | CV2078412 | single nucleotide variant | NM_006015.6(ARID1A):c.5298A>G (p.Glu1766=) | not provided [RCV002880842] | likely benign | 1 | 26779196 | 26779196 | Human | | name |
| 156253260 | CV2082691 | single nucleotide variant | NM_006015.6(ARID1A):c.3441C>A (p.Pro1147=) | not provided [RCV002877017] | likely benign | 1 | 26772534 | 26772534 | Human | | name |
| 156209077 | CV2103206 | single nucleotide variant | NM_006015.6(ARID1A):c.4932C>G (p.Gly1644=) | not provided [RCV002918090] | likely benign | 1 | 26775159 | 26775159 | Human | | name |
| 156138898 | CV2116478 | single nucleotide variant | NM_006015.6(ARID1A):c.6681T>C (p.Ser2227=) | not provided [RCV002914831] | likely benign | 1 | 26780579 | 26780579 | Human | | name |
| 156357729 | CV2126192 | single nucleotide variant | NM_006015.6(ARID1A):c.5247G>A (p.Arg1749=) | not provided [RCV002966779] | likely benign | 1 | 26779145 | 26779145 | Human | | name |
| 156359756 | CV2126358 | single nucleotide variant | NM_006015.6(ARID1A):c.5088T>C (p.Tyr1696=) | not provided [RCV002966904] | likely benign | 1 | 26775671 | 26775671 | Human | | name |
| 155905483 | CV2134500 | single nucleotide variant | NM_006015.6(ARID1A):c.5400T>C (p.Asn1800=) | not provided [RCV002967685] | likely benign | 1 | 26779298 | 26779298 | Human | | name |
| 156141043 | CV2137891 | single nucleotide variant | NM_006015.6(ARID1A):c.977G>C (p.Gly326Ala) | not provided [RCV002982315] | uncertain significance | 1 | 26697380 | 26697380 | Human | | name |
| 156161651 | CV2139356 | single nucleotide variant | NM_006015.6(ARID1A):c.3936C>A (p.Ser1312=) | not provided [RCV002983028] | likely benign | 1 | 26773649 | 26773649 | Human | | name |
| 155906195 | CV2148126 | single nucleotide variant | NM_006015.6(ARID1A):c.860C>T (p.Pro287Leu) | not provided [RCV003011937] | uncertain significance | 1 | 26697263 | 26697263 | Human | | name |
| 155934617 | CV2153553 | single nucleotide variant | NM_006015.6(ARID1A):c.524G>A (p.Gly175Glu) | not provided [RCV003013844] | uncertain significance | 1 | 26696927 | 26696927 | Human | | name |
| 156183655 | CV2163817 | single nucleotide variant | NM_006015.6(ARID1A):c.6735C>T (p.Asp2245=) | not provided [RCV003023906] | likely benign | 1 | 26780633 | 26780633 | Human | | name |
| 156156483 | CV2190882 | single nucleotide variant | NM_006015.6(ARID1A):c.791C>T (p.Ser264Leu) | not provided [RCV003040547] | uncertain significance | 1 | 26697194 | 26697194 | Human | | name |
| 156402231 | CV2191490 | single nucleotide variant | NM_006015.6(ARID1A):c.6204G>A (p.Ser2068=) | not provided [RCV003052418] | likely benign | 1 | 26780102 | 26780102 | Human | | name |
| 156249907 | CV2192742 | single nucleotide variant | NM_006015.6(ARID1A):c.5922G>A (p.Gln1974=) | not provided [RCV003059986] | uncertain significance | 1 | 26779820 | 26779820 | Human | | name |
| 156095002 | CV2213527 | single nucleotide variant | NM_006015.6(ARID1A):c.497C>T (p.Ala166Val) | Inborn genetic diseases [RCV002661591]|not provided [RCV003777616] | likely benign|uncertain significance | 1 | 26696900 | 26696900 | Human | 1 | name |
| 156327426 | CV2217275 | single nucleotide variant | NM_006015.6(ARID1A):c.374G>T (p.Gly125Val) | Inborn genetic diseases [RCV002672895] | uncertain significance | 1 | 26696777 | 26696777 | Human | 1 | name |
| 156119998 | CV2219314 | single nucleotide variant | NM_006015.6(ARID1A):c.658A>C (p.Ser220Arg) | Inborn genetic diseases [RCV002707773] | uncertain significance | 1 | 26697061 | 26697061 | Human | 1 | name |
| 11087912 | CV227657 | deletion | NM_006015.6(ARID1A):c.1113del (p.Gln372fs) | Intellectual disability, autosomal dominant 14 [RCV000211061] | pathogenic | 1 | 26697511 | 26697511 | Human | 1 | name |
| 243063454 | CV2411774 | single nucleotide variant | NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr) | Intellectual disability, autosomal dominant 14 [RCV003141497] | uncertain significance | 1 | 26696737 | 26696737 | Human | 1 | name |
| 243063456 | CV2411776 | single nucleotide variant | NM_006015.6(ARID1A):c.626A>T (p.Asn209Ile) | Intellectual disability, autosomal dominant 14 [RCV003141499] | uncertain significance | 1 | 26697029 | 26697029 | Human | 1 | name |
| 243052100 | CV2416060 | deletion | NM_006015.6(ARID1A):c.1015del (p.Ala339fs) | Intellectual disability, autosomal dominant 14 [RCV003149120] | pathogenic | 1 | 26697413 | 26697413 | Human | 1 | name |
| 243049546 | CV2416934 | single nucleotide variant | NM_006015.6(ARID1A):c.3234C>T (p.Thr1078=) | not specified [RCV003151606] | likely benign | 1 | 26771154 | 26771154 | Human | | name |
| 243049551 | CV2416939 | deletion | NM_006015.6(ARID1A):c.1397del (p.Gly466fs) | not provided [RCV003151611] | pathogenic | 1 | 26731196 | 26731196 | Human | | name |
| 329954747 | CV2670676 | single nucleotide variant | NM_006015.6(ARID1A):c.511C>G (p.Gln171Glu) | not provided [RCV003235944] | uncertain significance | 1 | 26696914 | 26696914 | Human | | name |
| 329954859 | CV2670791 | single nucleotide variant | NM_006015.6(ARID1A):c.412T>C (p.Ser138Pro) | not provided [RCV003236059] | uncertain significance | 1 | 26696815 | 26696815 | Human | | name |
| 401759846 | CV2698648 | single nucleotide variant | NM_006015.6(ARID1A):c.740C>T (p.Ala247Val) | Inborn genetic diseases [RCV003280301] | uncertain significance | 1 | 26697143 | 26697143 | Human | 1 | name |
| 401763553 | CV2720365 | single nucleotide variant | NM_006015.6(ARID1A):c.667C>A (p.Pro223Thr) | Inborn genetic diseases [RCV003300605] | uncertain significance | 1 | 26697070 | 26697070 | Human | 1 | name |
| 401740669 | CV2738744 | single nucleotide variant | NM_006015.6(ARID1A):c.704G>A (p.Arg235Lys) | not provided [RCV003318138] | uncertain significance | 1 | 26697107 | 26697107 | Human | | name |
| 401798257 | CV2739265 | single nucleotide variant | NM_006015.6(ARID1A):c.299T>C (p.Leu100Pro) | not provided [RCV003318913] | likely benign | 1 | 26696702 | 26696702 | Human | | name |
| 401828693 | CV2743028 | single nucleotide variant | NM_006015.6(ARID1A):c.698C>T (p.Ser233Phe) | not provided [RCV003325736] | uncertain significance | 1 | 26697101 | 26697101 | Human | | name |
| 401830308 | CV2748010 | single nucleotide variant | NM_006015.6(ARID1A):c.815G>A (p.Gly272Glu) | not provided [RCV003329617] | uncertain significance | 1 | 26697218 | 26697218 | Human | | name |
| 401873770 | CV2749811 | single nucleotide variant | NM_006015.6(ARID1A):c.511C>T (p.Gln171Ter) | Malignant tumor of urinary bladder [RCV003332939] | pathogenic | 1 | 26696914 | 26696914 | Human | 2 | name |
| 401912414 | CV2802863 | single nucleotide variant | NM_006015.6(ARID1A):c.994A>G (p.Met332Val) | ARID1A-related disorder [RCV003399842] | uncertain significance | 1 | 26697397 | 26697397 | Human | | name , trait , alternate_id |
| 401935493 | CV2812511 | single nucleotide variant | NM_006015.6(ARID1A):c.456A>T (p.Gln152His) | not provided [RCV003412949] | uncertain significance | 1 | 26696859 | 26696859 | Human | | name |
| 401935494 | CV2812512 | single nucleotide variant | NM_006015.6(ARID1A):c.742G>A (p.Gly248Ser) | not provided [RCV003412950] | likely benign | 1 | 26697145 | 26697145 | Human | | name |
| 401935505 | CV2812523 | single nucleotide variant | NM_006015.6(ARID1A):c.4368A>G (p.Pro1456=) | not provided [RCV003412961] | uncertain significance | 1 | 26774595 | 26774595 | Human | | name |
| 401935506 | CV2812524 | single nucleotide variant | NM_006015.6(ARID1A):c.4530C>T (p.Asn1510=) | not provided [RCV003412962] | benign|likely benign | 1 | 26774757 | 26774757 | Human | | name |
| 401935507 | CV2812525 | single nucleotide variant | NM_006015.6(ARID1A):c.5028C>T (p.Leu1676=) | not provided [RCV003412963] | likely benign | 1 | 26775611 | 26775611 | Human | | name |
| 401935536 | CV2812530 | single nucleotide variant | NM_006015.6(ARID1A):c.6231C>T (p.Pro2077=) | not provided [RCV003412969] | likely benign | 1 | 26780129 | 26780129 | Human | | name |
| 401935537 | CV2812531 | single nucleotide variant | NM_006015.6(ARID1A):c.6720C>G (p.Ala2240=) | not provided [RCV003412970] | benign|likely benign | 1 | 26780618 | 26780618 | Human | | name |
| 404978342 | CV2849633 | single nucleotide variant | NM_006015.6(ARID1A):c.493G>C (p.Ala165Pro) | Intellectual disability, autosomal dominant 14 [RCV003487074] | uncertain significance | 1 | 26696896 | 26696896 | Human | 1 | name |
| 404978346 | CV2849635 | single nucleotide variant | NM_006015.6(ARID1A):c.320C>T (p.Ala107Val) | Intellectual disability, autosomal dominant 14 [RCV003487076]|not provided [RCV004818359] | uncertain significance | 1 | 26696723 | 26696723 | Human | 1 | name |
| 404982248 | CV2851508 | single nucleotide variant | NM_006015.6(ARID1A):c.6612C>T (p.Ala2204=) | ARID1A-related disorder [RCV003901098]|Intellectual disability, autosomal dominant 14 [RCV003487100]|not provided [RCV003732604] | benign|likely benign | 1 | 26780510 | 26780510 | Human | 1 | name , alternate_id |
| 405173655 | CV2853500 | single nucleotide variant | NM_006015.6(ARID1A):c.911C>T (p.Ser304Leu) | not provided [RCV003542547] | uncertain significance | 1 | 26697314 | 26697314 | Human | | name |
| 402479194 | CV2853897 | single nucleotide variant | NM_006015.6(ARID1A):c.959C>G (p.Pro320Arg) | not provided [RCV003543834] | uncertain significance | 1 | 26697362 | 26697362 | Human | | name |
| 402516344 | CV2856633 | single nucleotide variant | NM_006015.6(ARID1A):c.364G>C (p.Gly122Arg) | not provided [RCV003575429] | benign|uncertain significance | 1 | 26696767 | 26696767 | Human | | name |
| 402474200 | CV2858090 | single nucleotide variant | NM_006015.6(ARID1A):c.6786G>A (p.Ser2262=) | not provided [RCV003543093] | benign | 1 | 26780684 | 26780684 | Human | | name |
| 402499178 | CV2871972 | single nucleotide variant | NM_006015.6(ARID1A):c.6090T>A (p.Thr2030=) | not provided [RCV003545725] | likely benign | 1 | 26779988 | 26779988 | Human | | name |
| 405216677 | CV2872570 | single nucleotide variant | NM_006015.6(ARID1A):c.5235G>A (p.Leu1745=) | not provided [RCV003553312] | likely benign | 1 | 26779133 | 26779133 | Human | | name |
| 405199185 | CV2876780 | single nucleotide variant | NM_006015.6(ARID1A):c.5448C>T (p.Ile1816=) | not provided [RCV003551135] | likely benign | 1 | 26779346 | 26779346 | Human | | name |
| 405199835 | CV2877071 | single nucleotide variant | NM_006015.6(ARID1A):c.4707A>G (p.Pro1569=) | not provided [RCV003551277] | likely benign | 1 | 26774934 | 26774934 | Human | | name |
| 402494261 | CV2887285 | single nucleotide variant | NM_006015.6(ARID1A):c.6258C>T (p.Asp2086=) | not provided [RCV003573328] | benign | 1 | 26780156 | 26780156 | Human | | name |
| 402465042 | CV2916537 | single nucleotide variant | NM_006015.6(ARID1A):c.322G>A (p.Gly108Ser) | not provided [RCV003569145] | uncertain significance | 1 | 26696725 | 26696725 | Human | | name |
| 405184468 | CV2920449 | single nucleotide variant | NM_006015.6(ARID1A):c.982G>A (p.Gly328Ser) | not provided [RCV003564322] | uncertain significance | 1 | 26697385 | 26697385 | Human | | name |
| 402484316 | CV2922279 | single nucleotide variant | NM_006015.6(ARID1A):c.6747A>C (p.Ser2249=) | not provided [RCV003572359] | likely benign | 1 | 26780645 | 26780645 | Human | | name |
| 405008618 | CV2926774 | single nucleotide variant | NM_006015.6(ARID1A):c.6558A>G (p.Ala2186=) | not provided [RCV003576461] | benign | 1 | 26780456 | 26780456 | Human | | name |
| 405027698 | CV2928755 | single nucleotide variant | NM_006015.6(ARID1A):c.668C>G (p.Pro223Arg) | not provided [RCV003578127] | uncertain significance | 1 | 26697071 | 26697071 | Human | | name |
| 405014614 | CV2930283 | single nucleotide variant | NM_006015.6(ARID1A):c.814G>A (p.Gly272Arg) | not provided [RCV003576969] | benign|uncertain significance | 1 | 26697217 | 26697217 | Human | | name |
| 405112802 | CV2939046 | single nucleotide variant | NM_006015.6(ARID1A):c.3984G>A (p.Gln1328=) | not provided [RCV003666532] | likely benign | 1 | 26773697 | 26773697 | Human | | name |
| 405123895 | CV2942623 | single nucleotide variant | NM_006015.6(ARID1A):c.6021G>A (p.Leu2007=) | not provided [RCV003671763] | likely benign | 1 | 26779919 | 26779919 | Human | | name |
| 405067301 | CV2944571 | single nucleotide variant | NM_006015.6(ARID1A):c.734C>T (p.Ala245Val) | not provided [RCV003663765] | benign|uncertain significance | 1 | 26697137 | 26697137 | Human | | name |
| 405093106 | CV2947144 | single nucleotide variant | NM_006015.6(ARID1A):c.5971C>T (p.Leu1991=) | not provided [RCV003665429] | likely benign | 1 | 26779869 | 26779869 | Human | | name |
| 405160679 | CV2950189 | single nucleotide variant | NM_006015.6(ARID1A):c.6306C>T (p.Pro2102=) | not provided [RCV003674595] | likely benign | 1 | 26780204 | 26780204 | Human | | name |
| 405182445 | CV2952702 | single nucleotide variant | NM_006015.6(ARID1A):c.319G>A (p.Ala107Thr) | not provided [RCV003676412] | uncertain significance | 1 | 26696722 | 26696722 | Human | | name |
| 405180292 | CV2956209 | single nucleotide variant | NM_006015.6(ARID1A):c.4659C>T (p.Pro1553=) | not provided [RCV003676196] | likely benign | 1 | 26774886 | 26774886 | Human | | name |
| 405121352 | CV2957694 | single nucleotide variant | NM_006015.6(ARID1A):c.854G>C (p.Gly285Ala) | not provided [RCV003667385] | uncertain significance | 1 | 26697257 | 26697257 | Human | | name |
| 405125793 | CV2958395 | single nucleotide variant | NM_006015.6(ARID1A):c.776C>T (p.Ala259Val) | not provided [RCV003667908] | uncertain significance | 1 | 26697179 | 26697179 | Human | | name |
| 405233142 | CV2965441 | single nucleotide variant | NM_006015.6(ARID1A):c.4341A>G (p.Pro1447=) | not provided [RCV003682589] | likely benign | 1 | 26774568 | 26774568 | Human | | name |
| 402492442 | CV2981251 | single nucleotide variant | NM_006015.6(ARID1A):c.6228C>T (p.Tyr2076=) | not provided [RCV003713907] | likely benign | 1 | 26780126 | 26780126 | Human | | name |
| 405010275 | CV2987256 | single nucleotide variant | NM_006015.6(ARID1A):c.902C>T (p.Ser301Leu) | not provided [RCV003693921] | uncertain significance | 1 | 26697305 | 26697305 | Human | | name |
| 405249945 | CV3000776 | single nucleotide variant | NM_006015.6(ARID1A):c.3903C>T (p.Ser1301=) | not provided [RCV003721379] | likely benign | 1 | 26773616 | 26773616 | Human | | name |
| 402516671 | CV3003200 | single nucleotide variant | NM_006015.6(ARID1A):c.6606C>T (p.Ser2202=) | not provided [RCV003716121] | likely benign | 1 | 26780504 | 26780504 | Human | | name |
| 405002748 | CV3016203 | single nucleotide variant | NM_006015.6(ARID1A):c.6031C>T (p.Leu2011=) | not provided [RCV003693333] | likely benign | 1 | 26779929 | 26779929 | Human | | name |
| 405152586 | CV3031532 | single nucleotide variant | NM_006015.6(ARID1A):c.644A>G (p.Tyr215Cys) | not provided [RCV003703395] | uncertain significance | 1 | 26697047 | 26697047 | Human | | name |
| 402486136 | CV3033921 | single nucleotide variant | NM_006015.6(ARID1A):c.555G>T (p.Gln185His) | not provided [RCV003713313] | benign|uncertain significance | 1 | 26696958 | 26696958 | Human | | name |
| 402506001 | CV3039081 | single nucleotide variant | NM_006015.6(ARID1A):c.5622C>T (p.Cys1874=) | not provided [RCV003715205] | likely benign | 1 | 26779520 | 26779520 | Human | | name |
| 405080759 | CV3050390 | single nucleotide variant | NM_006015.6(ARID1A):c.365G>T (p.Gly122Val) | Inborn genetic diseases [RCV005264492]|not provided [RCV003717058] | benign|uncertain significance | 1 | 26696768 | 26696768 | Human | 1 | name |
| 405244637 | CV3050721 | single nucleotide variant | NM_006015.6(ARID1A):c.6483G>A (p.Pro2161=) | not provided [RCV003720044] | benign | 1 | 26780381 | 26780381 | Human | | name |
| 405131113 | CV3051086 | single nucleotide variant | NM_006015.6(ARID1A):c.4521T>C (p.Asn1507=) | not provided [RCV003724836] | likely benign | 1 | 26774748 | 26774748 | Human | | name |
| 405173407 | CV3052451 | single nucleotide variant | NM_006015.6(ARID1A):c.4320A>G (p.Thr1440=) | not provided [RCV003728103] | benign | 1 | 26774547 | 26774547 | Human | | name |
| 405173419 | CV3052452 | single nucleotide variant | NM_006015.6(ARID1A):c.5907C>T (p.Thr1969=) | not provided [RCV003728104] | likely benign | 1 | 26779805 | 26779805 | Human | | name |
| 405174052 | CV3052565 | single nucleotide variant | NM_006015.6(ARID1A):c.3921G>A (p.Pro1307=) | not provided [RCV003728182] | likely benign | 1 | 26773634 | 26773634 | Human | | name |
| 405253521 | CV3054284 | single nucleotide variant | NM_006015.6(ARID1A):c.560G>T (p.Gly187Val) | not provided [RCV003722569] | benign | 1 | 26696963 | 26696963 | Human | | name |
| 405178239 | CV3056489 | single nucleotide variant | NM_006015.6(ARID1A):c.484G>A (p.Ala162Thr) | not provided [RCV003728536] | benign|uncertain significance | 1 | 26696887 | 26696887 | Human | | name |
| 405152677 | CV3060219 | single nucleotide variant | NM_006015.6(ARID1A):c.5334A>G (p.Glu1778=) | not provided [RCV003726508] | benign | 1 | 26779232 | 26779232 | Human | | name |
| 405149093 | CV3063504 | single nucleotide variant | NM_006015.6(ARID1A):c.5871C>T (p.Asp1957=) | ARID1A-related disorder [RCV003948978]|not provided [RCV003726285] | likely benign | 1 | 26779769 | 26779769 | Human | 1 | name , alternate_id |
| 405202413 | CV3067060 | single nucleotide variant | NM_006015.6(ARID1A):c.3333A>G (p.Glu1111=) | not provided [RCV003730908] | likely benign | 1 | 26771253 | 26771253 | Human | | name |
| 405202941 | CV3067068 | single nucleotide variant | NM_006015.6(ARID1A):c.539G>C (p.Gly180Ala) | not provided [RCV003730913] | benign | 1 | 26696942 | 26696942 | Human | | name |
| 405243593 | CV3071930 | single nucleotide variant | NM_006015.6(ARID1A):c.6342G>A (p.Pro2114=) | not provided [RCV003737835] | likely benign | 1 | 26780240 | 26780240 | Human | | name |
| 405031323 | CV3077571 | single nucleotide variant | NM_006015.6(ARID1A):c.609C>A (p.His203Gln) | not provided [RCV003739170] | uncertain significance | 1 | 26697012 | 26697012 | Human | | name |
| 405113864 | CV3115360 | single nucleotide variant | NM_006015.6(ARID1A):c.3975C>T (p.Pro1325=) | not provided [RCV003814042] | likely benign | 1 | 26773688 | 26773688 | Human | | name |
| 405113871 | CV3115361 | single nucleotide variant | NM_006015.6(ARID1A):c.4725A>G (p.Pro1575=) | not provided [RCV003814043] | benign | 1 | 26774952 | 26774952 | Human | | name |
| 404977107 | CV3117508 | single nucleotide variant | NM_006015.6(ARID1A):c.353C>T (p.Thr118Met) | Inborn genetic diseases [RCV004953560]|not provided [RCV003825280] | likely benign|uncertain significance | 1 | 26696756 | 26696756 | Human | 1 | name |
| 405112633 | CV3118636 | single nucleotide variant | NM_006015.6(ARID1A):c.5586G>A (p.Lys1862=) | not provided [RCV003813864] | likely benign | 1 | 26779484 | 26779484 | Human | | name |
| 405093470 | CV3118896 | single nucleotide variant | NM_006015.6(ARID1A):c.359C>G (p.Pro120Arg) | not provided [RCV003811347] | uncertain significance | 1 | 26696762 | 26696762 | Human | | name |
| 405175791 | CV3119248 | single nucleotide variant | NM_006015.6(ARID1A):c.3015T>C (p.Asn1005=) | not provided [RCV003819533] | likely benign | 1 | 26767816 | 26767816 | Human | | name |
| 405215070 | CV3124444 | single nucleotide variant | NM_006015.6(ARID1A):c.5613C>T (p.His1871=) | not provided [RCV003823806] | benign | 1 | 26779511 | 26779511 | Human | | name |
| 405215408 | CV3124571 | single nucleotide variant | NM_006015.6(ARID1A):c.4698G>A (p.Arg1566=) | not provided [RCV003823933] | likely benign | 1 | 26774925 | 26774925 | Human | | name |
| 402520703 | CV3126871 | single nucleotide variant | NM_006015.6(ARID1A):c.4170C>T (p.Ser1390=) | not provided [RCV003824789] | likely benign | 1 | 26774397 | 26774397 | Human | | name |
| 404978615 | CV3127447 | single nucleotide variant | NM_006015.6(ARID1A):c.5061A>G (p.Ala1687=) | not provided [RCV003825671] | likely benign | 1 | 26775644 | 26775644 | Human | | name |
| 405113030 | CV3133691 | single nucleotide variant | NM_006015.6(ARID1A):c.6330C>T (p.Ala2110=) | not provided [RCV003836484] | likely benign | 1 | 26780228 | 26780228 | Human | | name |
| 405119155 | CV3134794 | single nucleotide variant | NM_006015.6(ARID1A):c.4884C>T (p.Ala1628=) | not provided [RCV003837204] | likely benign | 1 | 26775111 | 26775111 | Human | | name |
| 405107335 | CV3136194 | single nucleotide variant | NM_006015.6(ARID1A):c.563G>A (p.Gly188Asp) | not provided [RCV003835540] | uncertain significance | 1 | 26696966 | 26696966 | Human | | name |
| 405109110 | CV3136780 | single nucleotide variant | NM_006015.6(ARID1A):c.4497G>A (p.Gln1499=) | not provided [RCV003835934] | likely benign | 1 | 26774724 | 26774724 | Human | | name |
| 405109138 | CV3136785 | single nucleotide variant | NM_006015.6(ARID1A):c.6180C>T (p.Thr2060=) | not provided [RCV003835939] | benign | 1 | 26780078 | 26780078 | Human | | name |
| 405110907 | CV3137232 | single nucleotide variant | NM_006015.6(ARID1A):c.757C>T (p.Pro253Ser) | Inborn genetic diseases [RCV004366869]|not provided [RCV003836195] | likely benign|uncertain significance | 1 | 26697160 | 26697160 | Human | 1 | name |
| 405013806 | CV3138830 | single nucleotide variant | NM_006015.6(ARID1A):c.491C>T (p.Ala164Val) | not provided [RCV003829166] | uncertain significance | 1 | 26696894 | 26696894 | Human | | name |
| 405096293 | CV3139806 | single nucleotide variant | NM_006015.6(ARID1A):c.5625A>C (p.Pro1875=) | not provided [RCV003835217] | likely benign | 1 | 26779523 | 26779523 | Human | | name |
| 405106096 | CV3139903 | single nucleotide variant | NM_006015.6(ARID1A):c.5764T>C (p.Leu1922=) | not provided [RCV003835314] | likely benign | 1 | 26779662 | 26779662 | Human | | name |
| 405070700 | CV3140220 | single nucleotide variant | NM_006015.6(ARID1A):c.364G>A (p.Gly122Ser) | not provided [RCV003833375] | uncertain significance | 1 | 26696767 | 26696767 | Human | | name |
| 405231718 | CV3144503 | single nucleotide variant | NM_006015.6(ARID1A):c.3072G>A (p.Val1024=) | not provided [RCV003852956] | likely benign | 1 | 26767873 | 26767873 | Human | | name |
| 405057617 | CV3147800 | single nucleotide variant | NM_006015.6(ARID1A):c.581C>G (p.Pro194Arg) | not provided [RCV003850030] | benign | 1 | 26696984 | 26696984 | Human | | name |
| 405190374 | CV3149648 | single nucleotide variant | NM_006015.6(ARID1A):c.3675C>G (p.Ser1225=) | not provided [RCV003843374] | likely benign | 1 | 26772947 | 26772947 | Human | | name |
| 405169733 | CV3151568 | single nucleotide variant | NM_006015.6(ARID1A):c.824G>C (p.Gly275Ala) | not provided [RCV003857719] | uncertain significance | 1 | 26697227 | 26697227 | Human | | name |
| 405173863 | CV3151926 | single nucleotide variant | NM_006015.6(ARID1A):c.6195C>T (p.Ala2065=) | not provided [RCV003858077] | likely benign | 1 | 26780093 | 26780093 | Human | | name |
| 405164423 | CV3153271 | single nucleotide variant | NM_006015.6(ARID1A):c.4197G>A (p.Gln1399=) | not provided [RCV003841006] | benign | 1 | 26774424 | 26774424 | Human | | name |
| 405141375 | CV3155319 | single nucleotide variant | NM_006015.6(ARID1A):c.4134C>T (p.Gly1378=) | not provided [RCV003855557] | likely benign | 1 | 26774361 | 26774361 | Human | | name |
| 405077138 | CV3156160 | single nucleotide variant | NM_006015.6(ARID1A):c.6225A>G (p.Pro2075=) | not provided [RCV003851218] | likely benign | 1 | 26780123 | 26780123 | Human | | name |
| 405151047 | CV3162912 | single nucleotide variant | NM_006015.6(ARID1A):c.4896C>G (p.Pro1632=) | not provided [RCV003856355] | likely benign | 1 | 26775123 | 26775123 | Human | | name |
| 405130574 | CV3163636 | single nucleotide variant | NM_006015.6(ARID1A):c.5895C>T (p.Thr1965=) | not provided [RCV003854624] | likely benign | 1 | 26779793 | 26779793 | Human | | name |
| 405086554 | CV3167399 | single nucleotide variant | NM_006015.6(ARID1A):c.3813G>A (p.Val1271=) | not provided [RCV003851980] | likely benign | 1 | 26773443 | 26773443 | Human | | name |
| 405090475 | CV3167863 | single nucleotide variant | NM_006015.6(ARID1A):c.349C>T (p.Leu117Phe) | not provided [RCV003852253] | benign|uncertain significance | 1 | 26696752 | 26696752 | Human | | name |
| 405255076 | CV3175648 | single nucleotide variant | NM_006015.6(ARID1A):c.6472C>A (p.Arg2158=) | not provided [RCV003871915] | likely benign | 1 | 26780370 | 26780370 | Human | | name |
| 402496533 | CV3179191 | single nucleotide variant | NM_006015.6(ARID1A):c.3477C>T (p.Asp1159=) | not provided [RCV003877458] | benign | 1 | 26772570 | 26772570 | Human | | name |
| 405262273 | CV3194432 | single nucleotide variant | NM_006015.6(ARID1A):c.3159C>T (p.Arg1053=) | ARID1A-related disorder [RCV003896460] | likely benign | 1 | 26767960 | 26767960 | Human | | name , trait , alternate_id |
| 405273169 | CV3197686 | single nucleotide variant | NM_006015.6(ARID1A):c.909C>G (p.Ser303Arg) | ARID1A-related disorder [RCV003901653] | uncertain significance | 1 | 26697312 | 26697312 | Human | | name , trait , alternate_id |
| 405279882 | CV3200189 | single nucleotide variant | NM_006015.6(ARID1A):c.5199G>A (p.Glu1733=) | ARID1A-related disorder [RCV003977113] | likely benign | 1 | 26779097 | 26779097 | Human | | name , trait , alternate_id |
| 405291754 | CV3206051 | single nucleotide variant | NM_006015.6(ARID1A):c.457C>T (p.Pro153Ser) | ARID1A-related disorder [RCV003964139] | uncertain significance | 1 | 26696860 | 26696860 | Human | | name , trait , alternate_id |
| 405291810 | CV3206122 | single nucleotide variant | NM_006015.6(ARID1A):c.4356G>A (p.Gln1452=) | ARID1A-related disorder [RCV003964193] | likely benign | 1 | 26774583 | 26774583 | Human | | name , trait , alternate_id |
| 405272911 | CV3210253 | single nucleotide variant | NM_006015.6(ARID1A):c.4446C>T (p.Gly1482=) | ARID1A-related disorder [RCV003914486] | likely benign | 1 | 26774673 | 26774673 | Human | | name , trait , alternate_id |
| 405255788 | CV3211301 | single nucleotide variant | NM_006015.6(ARID1A):c.3231A>G (p.Ala1077=) | ARID1A-related disorder [RCV003939405] | likely benign | 1 | 26771151 | 26771151 | Human | | name , trait , alternate_id |
| 405279448 | CV3217457 | single nucleotide variant | NM_006015.6(ARID1A):c.5544G>A (p.Gly1848=) | ARID1A-related disorder [RCV003976866]|not provided [RCV005064911] | likely benign | 1 | 26779442 | 26779442 | Human | 1 | name , alternate_id |
| 405289420 | CV3218270 | single nucleotide variant | NM_006015.6(ARID1A):c.548C>T (p.Ala183Val) | ARID1A-related disorder [RCV003983672]|not provided [RCV005103145] | uncertain significance | 1 | 26696951 | 26696951 | Human | 1 | name , alternate_id |
| 405271154 | CV3218919 | single nucleotide variant | NM_006015.6(ARID1A):c.3567T>C (p.Asp1189=) | ARID1A-related disorder [RCV003971660] | likely benign | 1 | 26772839 | 26772839 | Human | | name , trait , alternate_id |
| 405261338 | CV3221488 | single nucleotide variant | NM_006015.6(ARID1A):c.6795G>A (p.Pro2265=) | ARID1A-related disorder [RCV003966965] | likely benign | 1 | 26780693 | 26780693 | Human | | name , trait , alternate_id |
| 405700127 | CV3279604 | single nucleotide variant | NM_006015.6(ARID1A):c.464G>T (p.Gly155Val) | Inborn genetic diseases [RCV004425256] | uncertain significance | 1 | 26696867 | 26696867 | Human | 1 | name |
| 405700147 | CV3279607 | single nucleotide variant | NM_006015.6(ARID1A):c.874A>C (p.Thr292Pro) | Inborn genetic diseases [RCV004425259] | uncertain significance | 1 | 26697277 | 26697277 | Human | 1 | name |
| 405873316 | CV3398492 | single nucleotide variant | NM_006015.6(ARID1A):c.312C>A (p.Asn104Lys) | not provided [RCV004575988] | uncertain significance | 1 | 26696715 | 26696715 | Human | | name |
| 407429555 | CV3413965 | single nucleotide variant | NM_006015.6(ARID1A):c.961C>T (p.Gln321Ter) | Intellectual disability, autosomal dominant 14 [RCV004595375] | pathogenic | 1 | 26697364 | 26697364 | Human | 1 | name |
| 407474777 | CV3483092 | single nucleotide variant | NM_006015.6(ARID1A):c.985C>T (p.Pro329Ser) | Inborn genetic diseases [RCV004663107] | uncertain significance | 1 | 26697388 | 26697388 | Human | 1 | name |
| 407476515 | CV3494915 | single nucleotide variant | NM_006015.6(ARID1A):c.493G>T (p.Ala165Ser) | not specified [RCV004690816] | uncertain significance | 1 | 26696896 | 26696896 | Human | | name |
| 408366227 | CV3500115 | single nucleotide variant | NM_006015.6(ARID1A):c.343A>C (p.Asn115His) | not provided [RCV004722158] | uncertain significance | 1 | 26696746 | 26696746 | Human | | name |
| 408371122 | CV3504646 | single nucleotide variant | NM_006015.6(ARID1A):c.670C>A (p.Pro224Thr) | ARID1A-related disorder [RCV004724360] | uncertain significance | 1 | 26697073 | 26697073 | Human | | name , trait , alternate_id |
| 408374804 | CV3507375 | single nucleotide variant | NM_006015.6(ARID1A):c.5337G>A (p.Glu1779=) | ARID1A-related disorder [RCV004747474] | likely benign | 1 | 26779235 | 26779235 | Human | | name , trait , alternate_id |
| 408375077 | CV3509374 | single nucleotide variant | NM_006015.6(ARID1A):c.6711G>C (p.Ala2237=) | ARID1A-related disorder [RCV004747718] | likely benign | 1 | 26780609 | 26780609 | Human | | name , trait , alternate_id |
| 408374310 | CV3515640 | single nucleotide variant | NM_006015.6(ARID1A):c.752C>T (p.Pro251Leu) | ARID1A-related disorder [RCV004746664] | uncertain significance | 1 | 26697155 | 26697155 | Human | | name , trait , alternate_id |
| 408389826 | CV3519064 | single nucleotide variant | NM_006015.6(ARID1A):c.352A>G (p.Thr118Ala) | not provided [RCV004762373] | uncertain significance | 1 | 26696755 | 26696755 | Human | | name |
| 408393751 | CV3519900 | single nucleotide variant | NM_006015.6(ARID1A):c.817G>T (p.Ala273Ser) | not provided [RCV004764196] | uncertain significance | 1 | 26697220 | 26697220 | Human | | name |
| 408386634 | CV3524137 | single nucleotide variant | NM_006015.6(ARID1A):c.674C>A (p.Pro225His) | not provided [RCV004768011] | uncertain significance | 1 | 26697077 | 26697077 | Human | | name |
| 596920353 | CV3534536 | single nucleotide variant | NM_006015.6(ARID1A):c.977G>T (p.Gly326Val) | not specified [RCV004782097] | uncertain significance | 1 | 26697380 | 26697380 | Human | | name |
| 596945045 | CV3543692 | single nucleotide variant | NM_006015.6(ARID1A):c.809G>T (p.Arg270Leu) | not provided [RCV004801814] | uncertain significance | 1 | 26697212 | 26697212 | Human | | name |
| 596947514 | CV3549071 | single nucleotide variant | NM_006015.6(ARID1A):c.952G>A (p.Gly318Ser) | not provided [RCV004811395] | uncertain significance | 1 | 26697355 | 26697355 | Human | | name |
| 597706810 | CV3592569 | single nucleotide variant | NM_006015.6(ARID1A):c.301A>C (p.Lys101Gln) | Inborn genetic diseases [RCV004957429] | uncertain significance | 1 | 26696704 | 26696704 | Human | 1 | name |
| 597706837 | CV3592577 | single nucleotide variant | NM_006015.6(ARID1A):c.377G>A (p.Gly126Asp) | Inborn genetic diseases [RCV004957433] | uncertain significance | 1 | 26696780 | 26696780 | Human | 1 | name |
| 597706844 | CV3592596 | single nucleotide variant | NM_006015.6(ARID1A):c.352A>C (p.Thr118Pro) | Inborn genetic diseases [RCV004957434] | likely benign | 1 | 26696755 | 26696755 | Human | 1 | name |
| 597706897 | CV3592627 | single nucleotide variant | NM_006015.6(ARID1A):c.5055A>G (p.Thr1685=) | Inborn genetic diseases [RCV004957442]|not provided [RCV005061537] | likely benign | 1 | 26775638 | 26775638 | Human | 1 | name |
| 12848859 | CV363748 | single nucleotide variant | NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) | Coffin-Siris syndrome [RCV005355711]|Intellectual disability, autosomal dominant 14 [RCV002259923]|not provided [RCV000419589]|not specified [RCV000502239] | benign|likely benign | 1 | 26696875 | 26696875 | Human | 2 | name |
| 12837987 | CV364992 | single nucleotide variant | NM_006015.6(ARID1A):c.670C>G (p.Pro224Ala) | not provided [RCV005090701]|not specified [RCV000426142] | likely benign|uncertain significance | 1 | 26697073 | 26697073 | Human | | name |
| 597717007 | CV3733310 | single nucleotide variant | NM_006015.6(ARID1A):c.551T>G (p.Leu184Arg) | not provided [RCV005052500] | uncertain significance | 1 | 26696954 | 26696954 | Human | | name |
| 597922569 | CV3738518 | single nucleotide variant | NM_006015.6(ARID1A):c.3699T>C (p.Tyr1233=) | not provided [RCV005074926] | likely benign | 1 | 26772971 | 26772971 | Human | | name |
| 597867560 | CV3739082 | single nucleotide variant | NM_006015.6(ARID1A):c.5679C>T (p.Asp1893=) | not provided [RCV005068149] | likely benign | 1 | 26779577 | 26779577 | Human | | name |
| 597886763 | CV3741800 | single nucleotide variant | NM_006015.6(ARID1A):c.4551C>G (p.Ala1517=) | not provided [RCV005070519] | likely benign | 1 | 26774778 | 26774778 | Human | | name |
| 597853319 | CV3743493 | single nucleotide variant | NM_006015.6(ARID1A):c.3759C>T (p.Asn1253=) | not provided [RCV005060843] | likely benign | 1 | 26773389 | 26773389 | Human | | name |
| 597878547 | CV3744387 | insertion | NM_006015.6(ARID1A):c.2878+16_2878+17insTC | not provided [RCV005069601] | likely benign | 1 | 26766382 | 26766383 | Human | | name |
| 597931283 | CV3745942 | single nucleotide variant | NM_006015.6(ARID1A):c.655C>T (p.Arg219Cys) | not provided [RCV005075928] | uncertain significance | 1 | 26697058 | 26697058 | Human | | name |
| 597861602 | CV3748798 | single nucleotide variant | NM_006015.6(ARID1A):c.3546C>T (p.Ser1182=) | not provided [RCV005067430] | likely benign | 1 | 26772818 | 26772818 | Human | | name |
| 597971114 | CV3750627 | single nucleotide variant | NM_006015.6(ARID1A):c.868A>G (p.Thr290Ala) | not provided [RCV005084371] | benign | 1 | 26697271 | 26697271 | Human | | name |
| 597971533 | CV3750758 | single nucleotide variant | NM_006015.6(ARID1A):c.5790A>G (p.Ser1930=) | not provided [RCV005084502] | likely benign | 1 | 26779688 | 26779688 | Human | | name |
| 597841915 | CV3752776 | single nucleotide variant | NM_006015.6(ARID1A):c.3336C>T (p.Asp1112=) | not provided [RCV005086505] | benign | 1 | 26771256 | 26771256 | Human | | name |
| 597962323 | CV3753677 | single nucleotide variant | NM_006015.6(ARID1A):c.6015A>G (p.Pro2005=) | not provided [RCV005081981] | likely benign | 1 | 26779913 | 26779913 | Human | | name |
| 597962955 | CV3753827 | single nucleotide variant | NM_006015.6(ARID1A):c.989C>T (p.Ala330Val) | not provided [RCV005082131] | uncertain significance | 1 | 26697392 | 26697392 | Human | | name |
| 597954822 | CV3754126 | single nucleotide variant | NM_006015.6(ARID1A):c.5394A>G (p.Ser1798=) | not provided [RCV005080169] | likely benign | 1 | 26779292 | 26779292 | Human | | name |
| 597944352 | CV3754996 | single nucleotide variant | NM_006015.6(ARID1A):c.3498A>G (p.Ala1166=) | not provided [RCV005078185] | likely benign | 1 | 26772591 | 26772591 | Human | | name |
| 597960378 | CV3756193 | single nucleotide variant | NM_006015.6(ARID1A):c.6211T>C (p.Leu2071=) | not provided [RCV005081510] | likely benign | 1 | 26780109 | 26780109 | Human | | name |
| 597952456 | CV3756630 | single nucleotide variant | NM_006015.6(ARID1A):c.6087A>G (p.Leu2029=) | not provided [RCV005079688] | likely benign | 1 | 26779985 | 26779985 | Human | | name |
| 597961682 | CV3756681 | single nucleotide variant | NM_006015.6(ARID1A):c.995T>G (p.Met332Arg) | not provided [RCV005081803] | uncertain significance | 1 | 26697398 | 26697398 | Human | | name |
| 597939754 | CV3756842 | single nucleotide variant | NM_006015.6(ARID1A):c.4059C>T (p.Pro1353=) | not provided [RCV005077223] | likely benign | 1 | 26773856 | 26773856 | Human | | name |
| 597953355 | CV3757010 | single nucleotide variant | NM_006015.6(ARID1A):c.440C>G (p.Ala147Gly) | not provided [RCV005079871] | uncertain significance | 1 | 26696843 | 26696843 | Human | | name |
| 597947738 | CV3759001 | single nucleotide variant | NM_006015.6(ARID1A):c.4965G>A (p.Gln1655=) | not provided [RCV005078797] | likely benign | 1 | 26775192 | 26775192 | Human | | name |
| 597950102 | CV3759336 | single nucleotide variant | NM_006015.6(ARID1A):c.6675A>G (p.Pro2225=) | not provided [RCV005079133] | likely benign | 1 | 26780573 | 26780573 | Human | | name |
| 597909690 | CV3770276 | single nucleotide variant | NM_006015.6(ARID1A):c.764C>G (p.Ser255Cys) | not provided [RCV005113577] | uncertain significance | 1 | 26697167 | 26697167 | Human | | name |
| 597909711 | CV3770278 | single nucleotide variant | NM_006015.6(ARID1A):c.977G>A (p.Gly326Asp) | not provided [RCV005113579] | benign | 1 | 26697380 | 26697380 | Human | | name |
| 597932182 | CV3786139 | single nucleotide variant | NM_006015.6(ARID1A):c.4224C>G (p.Ala1408=) | not provided [RCV005131847] | likely benign | 1 | 26774451 | 26774451 | Human | | name |
| 597972643 | CV3790438 | single nucleotide variant | NM_006015.6(ARID1A):c.6774G>C (p.Leu2258=) | not provided [RCV005142861] | likely benign | 1 | 26780672 | 26780672 | Human | | name |
| 597969157 | CV3791224 | single nucleotide variant | NM_006015.6(ARID1A):c.622C>A (p.Pro208Thr) | not provided [RCV005141256] | benign | 1 | 26697025 | 26697025 | Human | | name |
| 597954843 | CV3796089 | single nucleotide variant | NM_006015.6(ARID1A):c.5763C>T (p.Thr1921=) | not provided [RCV005136906] | likely benign | 1 | 26779661 | 26779661 | Human | | name |
| 597955375 | CV3796220 | single nucleotide variant | NM_006015.6(ARID1A):c.974C>G (p.Ala325Gly) | not provided [RCV005137037] | uncertain significance | 1 | 26697377 | 26697377 | Human | | name |
| 597959475 | CV3797337 | single nucleotide variant | NM_006015.6(ARID1A):c.4821G>A (p.Leu1607=) | not provided [RCV005138024] | likely benign | 1 | 26775048 | 26775048 | Human | | name |
| 597974576 | CV3802256 | single nucleotide variant | NM_006015.6(ARID1A):c.470G>T (p.Ser157Ile) | not provided [RCV005144033] | uncertain significance | 1 | 26696873 | 26696873 | Human | | name |
| 597889807 | CV3804887 | single nucleotide variant | NM_006015.6(ARID1A):c.908G>C (p.Ser303Thr) | Coffin-Siris syndrome [RCV005358227]|not provided [RCV005151149] | benign|uncertain significance | 1 | 26697311 | 26697311 | Human | 1 | name |
| 597924782 | CV3808693 | single nucleotide variant | NM_006015.6(ARID1A):c.807G>T (p.Gln269His) | not provided [RCV005156207] | uncertain significance | 1 | 26697210 | 26697210 | Human | | name |
| 597896485 | CV3810546 | single nucleotide variant | NM_006015.6(ARID1A):c.424G>T (p.Ala142Ser) | not provided [RCV005152071] | uncertain significance | 1 | 26696827 | 26696827 | Human | | name |
| 597920589 | CV3811805 | single nucleotide variant | NM_006015.6(ARID1A):c.775G>C (p.Ala259Pro) | not provided [RCV005155636] | uncertain significance | 1 | 26697178 | 26697178 | Human | | name |
| 597961233 | CV3812088 | single nucleotide variant | NM_006015.6(ARID1A):c.958C>T (p.Pro320Ser) | not provided [RCV005163741] | uncertain significance | 1 | 26697361 | 26697361 | Human | | name |
| 597944095 | CV3812455 | single nucleotide variant | NM_006015.6(ARID1A):c.890A>T (p.Gln297Leu) | not provided [RCV005159665] | benign | 1 | 26697293 | 26697293 | Human | | name |
| 597875239 | CV3813093 | single nucleotide variant | NM_006015.6(ARID1A):c.835C>T (p.Pro279Ser) | not provided [RCV005149029] | benign | 1 | 26697238 | 26697238 | Human | | name |
| 597877155 | CV3813350 | single nucleotide variant | NM_006015.6(ARID1A):c.4617C>T (p.Ala1539=) | not provided [RCV005149286] | benign | 1 | 26774844 | 26774844 | Human | | name |
| 597865391 | CV3823317 | single nucleotide variant | NM_006015.6(ARID1A):c.356A>G (p.Glu119Gly) | not provided [RCV005175667] | benign | 1 | 26696759 | 26696759 | Human | | name |
| 597860172 | CV3826006 | single nucleotide variant | NM_006015.6(ARID1A):c.755C>T (p.Pro252Leu) | not provided [RCV005174904] | uncertain significance | 1 | 26697158 | 26697158 | Human | | name |
| 597837171 | CV3828730 | single nucleotide variant | NM_006015.6(ARID1A):c.4722C>G (p.Pro1574=) | not provided [RCV005171423] | likely benign | 1 | 26774949 | 26774949 | Human | | name |
| 597837178 | CV3828731 | single nucleotide variant | NM_006015.6(ARID1A):c.5772G>A (p.Glu1924=) | not provided [RCV005171424] | likely benign | 1 | 26779670 | 26779670 | Human | | name |
| 597975946 | CV3828992 | single nucleotide variant | NM_006015.6(ARID1A):c.731C>T (p.Ala244Val) | not provided [RCV005169441] | likely benign | 1 | 26697134 | 26697134 | Human | | name |
| 597976182 | CV3829193 | single nucleotide variant | NM_006015.6(ARID1A):c.658A>G (p.Ser220Gly) | not provided [RCV005169642] | uncertain significance | 1 | 26697061 | 26697061 | Human | | name |
| 597927358 | CV3836937 | single nucleotide variant | NM_006015.6(ARID1A):c.5577C>T (p.Phe1859=) | not provided [RCV005185288] | likely benign | 1 | 26779475 | 26779475 | Human | | name |
| 597929838 | CV3837461 | single nucleotide variant | NM_006015.6(ARID1A):c.788C>T (p.Ser263Phe) | not provided [RCV005185619] | uncertain significance | 1 | 26697191 | 26697191 | Human | | name |
| 597956305 | CV3838183 | single nucleotide variant | NM_006015.6(ARID1A):c.4623C>T (p.His1541=) | not provided [RCV005191558] | likely benign | 1 | 26774850 | 26774850 | Human | | name |
| 597956310 | CV3838184 | single nucleotide variant | NM_006015.6(ARID1A):c.5463T>C (p.Asp1821=) | not provided [RCV005191559] | likely benign | 1 | 26779361 | 26779361 | Human | | name |
| 597955540 | CV3841261 | single nucleotide variant | NM_006015.6(ARID1A):c.535C>T (p.Pro179Ser) | not provided [RCV005191380] | benign | 1 | 26696938 | 26696938 | Human | | name |
| 597934326 | CV3844856 | single nucleotide variant | NM_006015.6(ARID1A):c.4932C>T (p.Gly1644=) | not provided [RCV005186362] | likely benign | 1 | 26775159 | 26775159 | Human | | name |
| 597916241 | CV3845688 | single nucleotide variant | NM_006015.6(ARID1A):c.392G>C (p.Gly131Ala) | not provided [RCV005183483]|not specified [RCV005241118] | uncertain significance | 1 | 26696795 | 26696795 | Human | | name |
| 597951161 | CV3847112 | single nucleotide variant | NM_006015.6(ARID1A):c.794C>T (p.Ser265Phe) | not provided [RCV005190284] | likely benign | 1 | 26697197 | 26697197 | Human | | name |
| 597958491 | CV3849137 | single nucleotide variant | NM_006015.6(ARID1A):c.662C>T (p.Ala221Val) | not provided [RCV005192138] | benign | 1 | 26697065 | 26697065 | Human | | name |
| 597912370 | CV3850664 | single nucleotide variant | NM_006015.6(ARID1A):c.6615C>T (p.Ala2205=) | not provided [RCV005203812] | benign | 1 | 26780513 | 26780513 | Human | | name |
| 597904937 | CV3853046 | single nucleotide variant | NM_006015.6(ARID1A):c.6808T>C (p.Leu2270=) | not provided [RCV005202703] | likely benign | 1 | 26780706 | 26780706 | Human | | name |
| 597899633 | CV3854700 | single nucleotide variant | NM_006015.6(ARID1A):c.3144T>C (p.Pro1048=) | not provided [RCV005201808] | likely benign | 1 | 26767945 | 26767945 | Human | | name |
| 597886540 | CV3854967 | single nucleotide variant | NM_006015.6(ARID1A):c.4209G>A (p.Gln1403=) | not provided [RCV005199813] | likely benign | 1 | 26774436 | 26774436 | Human | | name |
| 597922004 | CV3861858 | single nucleotide variant | NM_006015.6(ARID1A):c.5640G>A (p.Lys1880=) | not provided [RCV005205234] | likely benign | 1 | 26779538 | 26779538 | Human | | name |
| 598129479 | CV3888778 | single nucleotide variant | NM_006015.6(ARID1A):c.407C>A (p.Pro136His) | not provided [RCV005244952] | uncertain significance | 1 | 26696810 | 26696810 | Human | | name |
| 598161887 | CV3897933 | single nucleotide variant | NM_006015.6(ARID1A):c.847G>A (p.Gly283Ser) | Inborn genetic diseases [RCV005261273] | uncertain significance | 1 | 26697250 | 26697250 | Human | 1 | name |
| 8568250 | CV39248 | deletion | NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) | Coffin-Siris syndrome 1 [RCV003314556]|Intellectual disability, autosomal dominant 14 [RCV000023227]|not provided [RCV000480869] | pathogenic | 1 | 26696422 | 26696447 | Human | 2 | name |
| 616933430 | CV4011497 | single nucleotide variant | NM_006015.6(ARID1A):c.494C>T (p.Ala165Val) | not specified [RCV005407578] | uncertain significance | 1 | 26696897 | 26696897 | Human | | name |
| 616939626 | CV4014123 | single nucleotide variant | NM_006015.6(ARID1A):c.6414A>G (p.Thr2138=) | not provided [RCV005413615] | likely benign | 1 | 26780312 | 26780312 | Human | | name |
| 12905514 | CV413226 | single nucleotide variant | NM_006015.6(ARID1A):c.6267A>C (p.Leu2089=) | not provided [RCV000487594] | uncertain significance | 1 | 26780165 | 26780165 | Human | | name |
| 13215338 | CV427770 | single nucleotide variant | NM_006015.6(ARID1A):c.326C>T (p.Pro109Leu) | not provided [RCV002524156]|not specified [RCV000502382] | likely benign|uncertain significance | 1 | 26696729 | 26696729 | Human | | name |
| 13216225 | CV427771 | single nucleotide variant | NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser) | ARID1A-related disorder [RCV003972823]|not provided [RCV001724030]|not specified [RCV000503505] | benign|uncertain significance | 1 | 26696761 | 26696761 | Human | 1 | name , alternate_id |
| 13215434 | CV427774 | single nucleotide variant | NM_006015.6(ARID1A):c.750G>C (p.Lys250Asn) | not specified [RCV000502510] | uncertain significance | 1 | 26697153 | 26697153 | Human | | name |
| 13213995 | CV427787 | single nucleotide variant | NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=) | ARID1A-related disorder [RCV003960149]|Intellectual disability, autosomal dominant 14 [RCV000765105]|not provided [RCV001709657]|not specified [RCV000500706] | benign|likely benign|uncertain significance | 1 | 26772501 | 26772501 | Human | 1 | name , alternate_id |
| 13215926 | CV427789 | single nucleotide variant | NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) | ARID1A-related disorder [RCV003972822]|Intellectual disability, autosomal dominant 14 [RCV002259975]|not provided [RCV001662490]|not specified [RCV000503125] | benign|likely benign | 1 | 26773392 | 26773392 | Human | 1 | name , alternate_id |
| 13213381 | CV427790 | single nucleotide variant | NM_006015.6(ARID1A):c.3975C>G (p.Pro1325=) | not provided [RCV001731723]|not specified [RCV000499876] | likely benign | 1 | 26773688 | 26773688 | Human | | name |
| 13214773 | CV427792 | single nucleotide variant | NM_006015.6(ARID1A):c.4986A>G (p.Lys1662=) | not specified [RCV000501679] | likely benign | 1 | 26775213 | 26775213 | Human | | name |
| 13216159 | CV427793 | single nucleotide variant | NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) | ARID1A-related disorder [RCV003900038]|Intellectual disability, autosomal dominant 14 [RCV002259976]|not provided [RCV001692146]|not specified [RCV000503416] | benign|likely benign | 1 | 26775659 | 26775659 | Human | 1 | name , alternate_id |
| 13214851 | CV427796 | single nucleotide variant | NM_006015.6(ARID1A):c.5442A>G (p.Val1814=) | not specified [RCV000501783] | likely benign | 1 | 26779340 | 26779340 | Human | | name |
| 13518632 | CV485993 | single nucleotide variant | NM_006015.6(ARID1A):c.5655A>C (p.Ala1885=) | not provided [RCV000584964] | uncertain significance | 1 | 26779553 | 26779553 | Human | | name |
| 13528871 | CV508769 | single nucleotide variant | NM_006015.6(ARID1A):c.3702C>T (p.Gly1234=) | Intellectual disability, autosomal dominant 14 [RCV000612410]|not provided [RCV001727776] | likely benign|uncertain significance | 1 | 26772974 | 26772974 | Human | 1 | name |
| 15177457 | CV696662 | single nucleotide variant | NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=) | ARID1A-related disorder [RCV003903218]|Intellectual disability, autosomal dominant 14 [RCV002260118]|not provided [RCV000951047] | benign|likely benign | 1 | 26773422 | 26773422 | Human | 1 | name , alternate_id |
| 15179618 | CV732356 | single nucleotide variant | NM_006015.6(ARID1A):c.3765G>A (p.Gly1255=) | not provided [RCV000907156] | likely benign | 1 | 26773395 | 26773395 | Human | | name |
| 15141523 | CV780666 | single nucleotide variant | NM_006015.6(ARID1A):c.3912C>A (p.Ala1304=) | not provided [RCV000982994] | likely benign | 1 | 26773625 | 26773625 | Human | | name |
| 21070325 | CV789958 | single nucleotide variant | NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser) | Intellectual disability, autosomal dominant 14 [RCV000986280]|not provided [RCV002549663] | benign|uncertain significance | 1 | 26696995 | 26696995 | Human | 1 | name |
| 21071374 | CV794656 | single nucleotide variant | NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) | Intellectual disability, autosomal dominant 14 [RCV002260130]|not provided [RCV000993959]|not specified [RCV001819704] | benign|likely benign | 1 | 26773850 | 26773850 | Human | 1 | name |
| 26922039 | CV823869 | single nucleotide variant | NM_006015.6(ARID1A):c.500C>T (p.Ala167Val) | Autism spectrum disorder [RCV003127604]|not provided [RCV001051325] | likely benign|uncertain significance | 1 | 26696903 | 26696903 | Human | 2 | name |
| 28880083 | CV858939 | single nucleotide variant | NM_006015.6(ARID1A):c.446G>A (p.Gly149Asp) | not provided [RCV001090916] | uncertain significance | 1 | 26696849 | 26696849 | Human | | name |
| 38596536 | CV963481 | single nucleotide variant | NM_006015.6(ARID1A):c.458C>T (p.Pro153Leu) | Intellectual disability [RCV001251891]|not provided [RCV002570474] | likely benign|uncertain significance | 1 | 26696861 | 26696861 | Human | 2 | name |
| 38596537 | CV963482 | single nucleotide variant | NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu) | Intellectual disability [RCV001251892]|Intellectual disability, autosomal dominant 14 [RCV002260149]|not provided [RCV001571282] | benign|likely benign | 1 | 26696984 | 26696984 | Human | 3 | name |
| 40816234 | CV969146 | single nucleotide variant | NM_006015.6(ARID1A):c.943G>A (p.Asp315Asn) | not provided [RCV003574866]|not specified [RCV001260449] | benign|uncertain significance | 1 | 26697346 | 26697346 | Human | | name |
| 40887652 | CV973197 | single nucleotide variant | NM_006015.6(ARID1A):c.895C>T (p.Leu299Phe) | Inborn genetic diseases [RCV001267252] | uncertain significance | 1 | 26697298 | 26697298 | Human | 1 | name |
| 8686873 | CV137295 | single nucleotide variant | NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) | Intellectual disability, autosomal dominant 14 [RCV002259636]|not provided [RCV000224299]|not specified [RCV000120069] | benign|likely benign|not provided | 1 | 26761058 | 26761058 | Human | 1 | name |
| 155267290 | CV1696602 | single nucleotide variant | NM_006015.6(ARID1A):c.1652A>T (p.Tyr551Phe) | not provided [RCV002281460] | uncertain significance | 1 | 26731453 | 26731453 | Human | | name |
| 155266650 | CV1699218 | single nucleotide variant | NM_006015.6(ARID1A):c.2011G>A (p.Gly671Arg) | not provided [RCV002283013] | uncertain significance | 1 | 26760946 | 26760946 | Human | | name |
| 155642494 | CV1707432 | single nucleotide variant | NM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser) | Intellectual disability, autosomal dominant 14 [RCV002288362] | uncertain significance | 1 | 26731323 | 26731323 | Human | 1 | name |
| 155741686 | CV1770489 | single nucleotide variant | NM_006015.6(ARID1A):c.2248C>T (p.Arg750Ter) | Hepatocellular carcinoma [RCV002302714] | pathogenic | 1 | 26761470 | 26761470 | Human | 1 | name |
| 155741832 | CV1770604 | deletion | NM_006015.6(ARID1A):c.3524del (p.Pro1175fs) | Hepatocellular carcinoma [RCV002302829] | pathogenic | 1 | 26772612 | 26772612 | Human | 1 | name |
| 155708459 | CV1772813 | single nucleotide variant | NM_006015.6(ARID1A):c.2359T>C (p.Ser787Pro) | not provided [RCV002300454] | uncertain significance | 1 | 26762259 | 26762259 | Human | | name |
| 155719812 | CV1775599 | single nucleotide variant | NM_006015.6(ARID1A):c.1951A>C (p.Met651Leu) | not provided [RCV002301241] | benign|uncertain significance | 1 | 26760886 | 26760886 | Human | | name |
| 155797904 | CV1784681 | deletion | NM_006015.6(ARID1A):c.5911del (p.Leu1971fs) | Lung cancer [RCV002465201] | pathogenic | 1 | 26779809 | 26779809 | Human | 1 | name |
| 155737827 | CV1816395 | single nucleotide variant | NM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter) | Inborn genetic diseases [RCV002409998] | pathogenic | 1 | 26729764 | 26729764 | Human | 1 | name |
| 155801548 | CV1866741 | single nucleotide variant | NM_006015.6(ARID1A):c.2096C>G (p.Pro699Arg) | not provided [RCV002505952] | uncertain significance | 1 | 26761031 | 26761031 | Human | | name |
| 156359384 | CV1908304 | single nucleotide variant | NM_006015.6(ARID1A):c.1562A>G (p.Gln521Arg) | not provided [RCV002602389] | uncertain significance | 1 | 26731363 | 26731363 | Human | | name |
| 156299457 | CV1919874 | single nucleotide variant | NM_006015.6(ARID1A):c.1011G>T (p.Trp337Cys) | not provided [RCV002599097]|not specified [RCV004526966] | uncertain significance | 1 | 26697414 | 26697414 | Human | | name |
| 156201492 | CV1925620 | single nucleotide variant | NM_006015.6(ARID1A):c.2098G>A (p.Val700Ile) | not provided [RCV002643648] | uncertain significance | 1 | 26761033 | 26761033 | Human | | name |
| 156443828 | CV1941097 | single nucleotide variant | NM_006015.6(ARID1A):c.2650T>C (p.Cys884Arg) | not provided [RCV003114737] | uncertain significance | 1 | 26763203 | 26763203 | Human | | name |
| 156115410 | CV1952306 | single nucleotide variant | NM_006015.6(ARID1A):c.2347A>G (p.Thr783Ala) | not provided [RCV002571654] | benign | 1 | 26762247 | 26762247 | Human | | name |
| 156248585 | CV1953676 | single nucleotide variant | NM_006015.6(ARID1A):c.1738C>A (p.Pro580Thr) | not provided [RCV002576465] | likely benign | 1 | 26731539 | 26731539 | Human | | name |
| 156417295 | CV1970311 | single nucleotide variant | NM_006015.6(ARID1A):c.2836C>A (p.Pro946Thr) | not provided [RCV002590115] | likely benign | 1 | 26766324 | 26766324 | Human | | name |
| 156344985 | CV1981847 | single nucleotide variant | NM_006015.6(ARID1A):c.2812G>A (p.Ala938Thr) | not provided [RCV002631631] | likely benign | 1 | 26766300 | 26766300 | Human | | name |
| 156137407 | CV2032776 | single nucleotide variant | NM_006015.6(ARID1A):c.1280C>T (p.Pro427Leu) | not provided [RCV002740778] | likely benign | 1 | 26729793 | 26729793 | Human | | name |
| 156170326 | CV2041527 | single nucleotide variant | NM_006015.6(ARID1A):c.1942G>A (p.Asp648Asn) | not provided [RCV002741840] | likely benign | 1 | 26760877 | 26760877 | Human | | name |
| 156349290 | CV2069350 | single nucleotide variant | NM_006015.6(ARID1A):c.2312T>C (p.Leu771Ser) | not provided [RCV002811659] | uncertain significance | 1 | 26762212 | 26762212 | Human | | name |
| 156220010 | CV2104741 | single nucleotide variant | NM_006015.6(ARID1A):c.2804A>G (p.Asn935Ser) | not provided [RCV002932418] | likely benign | 1 | 26766292 | 26766292 | Human | | name |
| 156217533 | CV2128065 | single nucleotide variant | NM_006015.6(ARID1A):c.2594A>G (p.Asn865Ser) | not provided [RCV002958006] | likely benign | 1 | 26763147 | 26763147 | Human | | name |
| 156232878 | CV2137144 | single nucleotide variant | NM_006015.6(ARID1A):c.2180G>T (p.Arg727Leu) | not provided [RCV003007808] | uncertain significance | 1 | 26761402 | 26761402 | Human | | name |
| 156118650 | CV2151448 | single nucleotide variant | NM_006015.6(ARID1A):c.2983T>C (p.Ser995Pro) | not provided [RCV003002889] | uncertain significance | 1 | 26766561 | 26766561 | Human | | name |
| 156248281 | CV2192620 | single nucleotide variant | NM_006015.6(ARID1A):c.1861A>T (p.Ser621Cys) | not provided [RCV003059925] | uncertain significance | 1 | 26732733 | 26732733 | Human | | name |
| 156262847 | CV2201120 | single nucleotide variant | NM_006015.6(ARID1A):c.2571G>T (p.Arg857Ser) | Inborn genetic diseases [RCV002669061] | uncertain significance | 1 | 26763124 | 26763124 | Human | 1 | name |
| 156150721 | CV2213098 | single nucleotide variant | NM_006015.6(ARID1A):c.2267A>G (p.Asn756Ser) | Inborn genetic diseases [RCV002697628] | uncertain significance | 1 | 26762167 | 26762167 | Human | 1 | name |
| 156229736 | CV2234998 | single nucleotide variant | NM_006015.6(ARID1A):c.2318C>T (p.Pro773Leu) | Inborn genetic diseases [RCV002767576]|not provided [RCV005059256] | likely benign | 1 | 26762218 | 26762218 | Human | 1 | name |
| 156361958 | CV2265448 | single nucleotide variant | NM_006015.6(ARID1A):c.2309C>T (p.Ala770Val) | Inborn genetic diseases [RCV002812960] | uncertain significance | 1 | 26762209 | 26762209 | Human | 1 | name |
| 156439920 | CV2401602 | single nucleotide variant | NM_006015.6(ARID1A):c.1124C>A (p.Ala375Asp) | not provided [RCV003109890] | uncertain significance | 1 | 26697527 | 26697527 | Human | | name |
| 243051914 | CV2418197 | single nucleotide variant | NM_006015.6(ARID1A):c.2660C>T (p.Pro887Leu) | Clonal Cytopenia of Undetermined Significance [RCV003153263] | uncertain significance | 1 | 26763213 | 26763213 | Human | | name |
| 329377104 | CV2435810 | single nucleotide variant | NM_006015.6(ARID1A):c.2948A>G (p.Asn983Ser) | Inborn genetic diseases [RCV003174393] | uncertain significance | 1 | 26766526 | 26766526 | Human | 1 | name |
| 329393401 | CV2466929 | single nucleotide variant | NM_006015.6(ARID1A):c.1063C>A (p.Gln355Lys) | Inborn genetic diseases [RCV003218265] | uncertain significance | 1 | 26697466 | 26697466 | Human | 1 | name |
| 329350535 | CV2477375 | single nucleotide variant | NM_006015.6(ARID1A):c.1849T>C (p.Ser617Pro) | not provided [RCV003221700] | uncertain significance | 1 | 26732721 | 26732721 | Human | | name |
| 329848281 | CV2667900 | single nucleotide variant | NM_006015.6(ARID1A):c.2345A>G (p.His782Arg) | Inborn genetic diseases [RCV003358158]|not provided [RCV003229467] | uncertain significance | 1 | 26762245 | 26762245 | Human | 1 | name |
| 401750771 | CV2712136 | single nucleotide variant | NM_006015.6(ARID1A):c.1844C>T (p.Ala615Val) | Inborn genetic diseases [RCV003276841] | uncertain significance | 1 | 26732716 | 26732716 | Human | 1 | name |
| 401799014 | CV2741589 | single nucleotide variant | NM_006015.6(ARID1A):c.2237T>C (p.Ile746Thr) | not provided [RCV003322997] | uncertain significance | 1 | 26761459 | 26761459 | Human | | name |
| 401828665 | CV2743000 | single nucleotide variant | NM_006015.6(ARID1A):c.2099T>G (p.Val700Gly) | not provided [RCV003325708] | uncertain significance | 1 | 26761034 | 26761034 | Human | | name |
| 401870938 | CV2749446 | single nucleotide variant | NM_006015.6(ARID1A):c.1275G>T (p.Gln425His) | ARID1A-related disorder [RCV003420660]|not provided [RCV003332574] | uncertain significance | 1 | 26729788 | 26729788 | Human | 1 | name , alternate_id |
| 401873772 | CV2749812 | single nucleotide variant | NM_006015.6(ARID1A):c.1813C>T (p.Gln605Ter) | Malignant tumor of urinary bladder [RCV003332940] | pathogenic | 1 | 26732685 | 26732685 | Human | 2 | name |
| 401873774 | CV2749813 | single nucleotide variant | NM_006015.6(ARID1A):c.2434C>T (p.Gln812Ter) | Malignant tumor of urinary bladder [RCV003332941] | pathogenic | 1 | 26762987 | 26762987 | Human | 2 | name |
| 401873790 | CV2749823 | single nucleotide variant | NM_006015.6(ARID1A):c.2632C>T (p.Gln878Ter) | Malignant tumor of urinary bladder [RCV003332951] | pathogenic | 1 | 26763185 | 26763185 | Human | 2 | name |
| 401873814 | CV2749834 | single nucleotide variant | NM_006015.6(ARID1A):c.1210C>T (p.Gln404Ter) | Malignant tumor of urinary bladder [RCV003332962] | pathogenic | 1 | 26729723 | 26729723 | Human | 2 | name |
| 401873817 | CV2749835 | single nucleotide variant | NM_006015.6(ARID1A):c.1585C>T (p.Gln529Ter) | Malignant tumor of urinary bladder [RCV003332963] | pathogenic | 1 | 26731386 | 26731386 | Human | 2 | name |
| 401873818 | CV2749836 | single nucleotide variant | NM_006015.6(ARID1A):c.2008C>T (p.Gln670Ter) | Malignant tumor of urinary bladder [RCV003332964] | pathogenic | 1 | 26760943 | 26760943 | Human | 2 | name |
| 401873821 | CV2749837 | single nucleotide variant | NM_006015.6(ARID1A):c.2272C>T (p.Gln758Ter) | Malignant tumor of urinary bladder [RCV003332965] | pathogenic | 1 | 26762172 | 26762172 | Human | 2 | name |
| 401873822 | CV2749838 | single nucleotide variant | NM_006015.6(ARID1A):c.2323C>T (p.Gln775Ter) | Malignant tumor of urinary bladder [RCV003332966] | pathogenic | 1 | 26762223 | 26762223 | Human | 2 | name |
| 401873824 | CV2749839 | single nucleotide variant | NM_006015.6(ARID1A):c.2683C>T (p.Gln895Ter) | Malignant tumor of urinary bladder [RCV003332967] | pathogenic | 1 | 26763236 | 26763236 | Human | 2 | name |
| 401873841 | CV2749849 | duplication | NM_006015.6(ARID1A):c.3105dup (p.Met1036fs) | Malignant tumor of urinary bladder [RCV003332977] | uncertain significance | 1 | 26767904 | 26767905 | Human | 2 | name |
| 401923200 | CV2796708 | single nucleotide variant | NM_006015.6(ARID1A):c.2534C>A (p.Pro845His) | ARID1A-related disorder [RCV003404327] | uncertain significance | 1 | 26763087 | 26763087 | Human | | name , trait , alternate_id |
| 401926731 | CV2798747 | single nucleotide variant | NM_006015.6(ARID1A):c.1883T>C (p.Met628Thr) | ARID1A-related disorder [RCV003406028]|not provided [RCV003406027] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26732755 | 26732755 | Human | 1 | name , alternate_id |
| 401921643 | CV2802606 | single nucleotide variant | NM_006015.6(ARID1A):c.1163G>A (p.Gly388Asp) | ARID1A-related disorder [RCV003403014] | uncertain significance | 1 | 26729676 | 26729676 | Human | | name , trait , alternate_id |
| 401923831 | CV2803561 | single nucleotide variant | NM_006015.6(ARID1A):c.2450C>T (p.Ala817Val) | ARID1A-related disorder [RCV003404553] | uncertain significance | 1 | 26763003 | 26763003 | Human | | name , trait , alternate_id |
| 401923834 | CV2803564 | single nucleotide variant | NM_006015.6(ARID1A):c.2269C>G (p.Pro757Ala) | ARID1A-related disorder [RCV003404554]|not provided [RCV003778235] | uncertain significance | 1 | 26762169 | 26762169 | Human | 1 | name , alternate_id |
| 401931494 | CV2803629 | single nucleotide variant | NM_006015.6(ARID1A):c.2492G>A (p.Gly831Asp) | ARID1A-related disorder [RCV003408328] | uncertain significance | 1 | 26763045 | 26763045 | Human | | name , trait , alternate_id |
| 401902200 | CV2804297 | single nucleotide variant | NM_006015.6(ARID1A):c.1133C>T (p.Pro378Leu) | ARID1A-related disorder [RCV003418807] | uncertain significance | 1 | 26697536 | 26697536 | Human | | name , trait , alternate_id |
| 401932649 | CV2804312 | single nucleotide variant | NM_006015.6(ARID1A):c.1135C>T (p.Gln379Ter) | ARID1A-related disorder [RCV003408736] | likely pathogenic | 1 | 26697538 | 26697538 | Human | | name , trait , alternate_id |
| 401925076 | CV2805226 | single nucleotide variant | NM_006015.6(ARID1A):c.1357C>T (p.Pro453Ser) | not specified [RCV003405047] | uncertain significance | 1 | 26731158 | 26731158 | Human | | name |
| 405169292 | CV2854157 | single nucleotide variant | NM_006015.6(ARID1A):c.2066T>A (p.Leu689Gln) | not provided [RCV003542035] | likely benign | 1 | 26761001 | 26761001 | Human | | name |
| 405044517 | CV2859811 | single nucleotide variant | NM_006015.6(ARID1A):c.2560C>G (p.Pro854Ala) | not provided [RCV003579357] | likely benign | 1 | 26763113 | 26763113 | Human | | name |
| 405220766 | CV2870268 | duplication | NM_006015.6(ARID1A):c.6207dup (p.Gln2070fs) | not provided [RCV003553707] | pathogenic | 1 | 26780101 | 26780102 | Human | | name |
| 405070121 | CV2876429 | single nucleotide variant | NM_006015.6(ARID1A):c.1840T>G (p.Ser614Ala) | not provided [RCV003548478] | likely benign | 1 | 26732712 | 26732712 | Human | | name |
| 405120325 | CV2887929 | single nucleotide variant | NM_006015.6(ARID1A):c.1733C>T (p.Ala578Val) | not provided [RCV003559022] | benign | 1 | 26731534 | 26731534 | Human | | name |
| 405232504 | CV2896446 | single nucleotide variant | NM_006015.6(ARID1A):c.2752A>G (p.Met918Val) | Inborn genetic diseases [RCV005264449]|not provided [RCV003555746] | likely benign|uncertain significance | 1 | 26766240 | 26766240 | Human | 1 | name |
| 402481210 | CV2910997 | single nucleotide variant | NM_006015.6(ARID1A):c.1244A>G (p.His415Arg) | not provided [RCV003572052] | likely benign | 1 | 26729757 | 26729757 | Human | | name |
| 405210959 | CV2921030 | single nucleotide variant | NM_006015.6(ARID1A):c.2064C>A (p.His688Gln) | not provided [RCV003567159] | uncertain significance | 1 | 26760999 | 26760999 | Human | | name |
| 402483900 | CV2922257 | single nucleotide variant | NM_006015.6(ARID1A):c.1694C>A (p.Pro565His) | not provided [RCV003572348] | uncertain significance | 1 | 26731495 | 26731495 | Human | | name |
| 405032466 | CV2922599 | single nucleotide variant | NM_006015.6(ARID1A):c.1574C>T (p.Pro525Leu) | not provided [RCV003578462] | uncertain significance | 1 | 26731375 | 26731375 | Human | | name |
| 402470039 | CV2931042 | single nucleotide variant | NM_006015.6(ARID1A):c.2021G>A (p.Ser674Asn) | not provided [RCV003570143] | uncertain significance | 1 | 26760956 | 26760956 | Human | | name |
| 402518298 | CV2936595 | single nucleotide variant | NM_006015.6(ARID1A):c.1240G>A (p.Gly414Arg) | not provided [RCV003663114] | uncertain significance | 1 | 26729753 | 26729753 | Human | | name |
| 405220209 | CV2969629 | single nucleotide variant | NM_006015.6(ARID1A):c.2624T>G (p.Met875Arg) | not provided [RCV003680565] | uncertain significance | 1 | 26763177 | 26763177 | Human | | name |
| 405189554 | CV2987883 | single nucleotide variant | NM_006015.6(ARID1A):c.2289T>A (p.Ser763Arg) | not provided [RCV003706341] | uncertain significance | 1 | 26762189 | 26762189 | Human | | name |
| 404995602 | CV2996227 | single nucleotide variant | NM_006015.6(ARID1A):c.1966G>T (p.Ala656Ser) | not provided [RCV003692677]|not specified [RCV005240864] | uncertain significance | 1 | 26760901 | 26760901 | Human | | name |
| 405042501 | CV3007658 | single nucleotide variant | NM_006015.6(ARID1A):c.1337C>G (p.Ser446Cys) | not provided [RCV003696432] | uncertain significance | 1 | 26729850 | 26729850 | Human | | name |
| 405124128 | CV3021117 | single nucleotide variant | NM_006015.6(ARID1A):c.1262C>T (p.Pro421Leu) | not provided [RCV003701069] | likely benign | 1 | 26729775 | 26729775 | Human | | name |
| 405203888 | CV3057909 | single nucleotide variant | NM_006015.6(ARID1A):c.1759T>G (p.Ser587Ala) | not provided [RCV003731084] | benign | 1 | 26731560 | 26731560 | Human | | name |
| 405160316 | CV3062422 | single nucleotide variant | NM_006015.6(ARID1A):c.2357G>T (p.Gly786Val) | not provided [RCV003727049] | uncertain significance | 1 | 26762257 | 26762257 | Human | | name |
| 405040296 | CV3063883 | single nucleotide variant | NM_006015.6(ARID1A):c.2750A>G (p.Asn917Ser) | not provided [RCV003739864] | benign | 1 | 26766238 | 26766238 | Human | | name |
| 405214726 | CV3066502 | single nucleotide variant | NM_006015.6(ARID1A):c.2530C>A (p.Gln844Lys) | not provided [RCV003732483] | likely benign | 1 | 26763083 | 26763083 | Human | | name |
| 405206005 | CV3068297 | single nucleotide variant | NM_006015.6(ARID1A):c.2754G>C (p.Met918Ile) | not provided [RCV003731317] | uncertain significance | 1 | 26766242 | 26766242 | Human | | name |
| 405046671 | CV3071673 | single nucleotide variant | NM_006015.6(ARID1A):c.2516G>T (p.Gly839Val) | Inborn genetic diseases [RCV004661760]|not provided [RCV003740301] | likely benign | 1 | 26763069 | 26763069 | Human | 1 | name |
| 405033204 | CV3075146 | single nucleotide variant | NM_006015.6(ARID1A):c.2393C>T (p.Pro798Leu) | not provided [RCV003739303] | likely benign | 1 | 26762293 | 26762293 | Human | | name |
| 405204259 | CV3116921 | single nucleotide variant | NM_006015.6(ARID1A):c.1130C>T (p.Thr377Ile) | not provided [RCV003822405] | benign | 1 | 26697533 | 26697533 | Human | | name |
| 405182637 | CV3123984 | single nucleotide variant | NM_006015.6(ARID1A):c.2470C>T (p.Pro824Ser) | not provided [RCV003820180] | benign | 1 | 26763023 | 26763023 | Human | | name |
| 405164045 | CV3125242 | single nucleotide variant | NM_006015.6(ARID1A):c.2798G>T (p.Gly933Val) | not provided [RCV003818514] | benign | 1 | 26766286 | 26766286 | Human | | name |
| 405012409 | CV3128189 | single nucleotide variant | NM_006015.6(ARID1A):c.1132C>T (p.Pro378Ser) | not provided [RCV003829069] | benign | 1 | 26697535 | 26697535 | Human | | name |
| 405059369 | CV3129428 | single nucleotide variant | NM_006015.6(ARID1A):c.1313C>T (p.Ala438Val) | Inborn genetic diseases [RCV004366839]|not provided [RCV003832697] | benign|uncertain significance | 1 | 26729826 | 26729826 | Human | 1 | name |
| 405024657 | CV3132998 | single nucleotide variant | NM_006015.6(ARID1A):c.2860A>G (p.Met954Val) | not provided [RCV003830145] | uncertain significance | 1 | 26766348 | 26766348 | Human | | name |
| 405108968 | CV3136755 | single nucleotide variant | NM_006015.6(ARID1A):c.2135G>C (p.Gly712Ala) | not provided [RCV003835909] | uncertain significance | 1 | 26761070 | 26761070 | Human | | name |
| 405044590 | CV3141562 | single nucleotide variant | NM_006015.6(ARID1A):c.2560C>A (p.Pro854Thr) | not provided [RCV003831663] | uncertain significance | 1 | 26763113 | 26763113 | Human | | name |
| 405190592 | CV3149564 | single nucleotide variant | NM_006015.6(ARID1A):c.2332G>A (p.Gly778Arg) | not provided [RCV003843290] | uncertain significance | 1 | 26762232 | 26762232 | Human | | name |
| 405136051 | CV3164320 | single nucleotide variant | NM_006015.6(ARID1A):c.2741G>C (p.Gly914Ala) | not provided [RCV003855115] | likely benign | 1 | 26766229 | 26766229 | Human | | name |
| 405086398 | CV3167338 | single nucleotide variant | NM_006015.6(ARID1A):c.1693C>T (p.Pro565Ser) | not provided [RCV003851919] | likely benign | 1 | 26731494 | 26731494 | Human | | name |
| 402466824 | CV3177784 | single nucleotide variant | NM_006015.6(ARID1A):c.1284G>C (p.Gln428His) | not provided [RCV003873222] | likely benign | 1 | 26729797 | 26729797 | Human | | name |
| 405265476 | CV3185692 | single nucleotide variant | NM_006015.6(ARID1A):c.1116G>C (p.Gln372His) | not provided [RCV003886256] | uncertain significance | 1 | 26697519 | 26697519 | Human | | name |
| 405259521 | CV3186305 | single nucleotide variant | NM_006015.6(ARID1A):c.1469C>T (p.Pro490Leu) | not provided [RCV003884064] | likely benign | 1 | 26731270 | 26731270 | Human | | name |
| 405268711 | CV3187109 | single nucleotide variant | NM_006015.6(ARID1A):c.1616C>T (p.Ser539Leu) | not provided [RCV003887192] | likely benign | 1 | 26731417 | 26731417 | Human | | name |
| 405260159 | CV3190202 | single nucleotide variant | NM_006015.6(ARID1A):c.1028C>A (p.Ala343Glu) | ARID1A-related disorder [RCV003894603] | uncertain significance | 1 | 26697431 | 26697431 | Human | | name , trait , alternate_id |
| 405288883 | CV3193855 | single nucleotide variant | NM_006015.6(ARID1A):c.1640G>C (p.Ser547Thr) | ARID1A-related disorder [RCV003983357] | uncertain significance | 1 | 26731441 | 26731441 | Human | | name , trait , alternate_id |
| 405269258 | CV3201246 | duplication | NM_006015.6(ARID1A):c.5624dup (p.Pro1876fs) | ARID1A-related disorder [RCV003899352] | pathogenic | 1 | 26779519 | 26779520 | Human | | name , trait , alternate_id |
| 405289152 | CV3218124 | single nucleotide variant | NM_006015.6(ARID1A):c.2621A>G (p.Asn874Ser) | ARID1A-related disorder [RCV003983526] | likely benign | 1 | 26763174 | 26763174 | Human | | name , trait , alternate_id |
| 405289253 | CV3218179 | single nucleotide variant | NM_006015.6(ARID1A):c.2150C>T (p.Ala717Val) | ARID1A-related disorder [RCV003983581]|not provided [RCV005064926] | uncertain significance | 1 | 26761085 | 26761085 | Human | 1 | name , alternate_id |
| 405265937 | CV3220989 | single nucleotide variant | NM_006015.6(ARID1A):c.2195A>G (p.Gln732Arg) | ARID1A-related disorder [RCV003969132] | uncertain significance | 1 | 26761417 | 26761417 | Human | | name , trait , alternate_id |
| 405700109 | CV3279601 | single nucleotide variant | NM_006015.6(ARID1A):c.1071C>G (p.Ser357Arg) | Inborn genetic diseases [RCV004425253] | uncertain significance | 1 | 26697474 | 26697474 | Human | 1 | name |
| 405700115 | CV3279602 | single nucleotide variant | NM_006015.6(ARID1A):c.1951A>G (p.Met651Val) | Inborn genetic diseases [RCV004425254] | uncertain significance | 1 | 26760886 | 26760886 | Human | 1 | name |
| 405700122 | CV3279603 | single nucleotide variant | NM_006015.6(ARID1A):c.2589G>A (p.Met863Ile) | Inborn genetic diseases [RCV004425255] | uncertain significance | 1 | 26763142 | 26763142 | Human | 1 | name |
| 405854928 | CV3395057 | single nucleotide variant | NM_006015.6(ARID1A):c.1507C>T (p.Gln503Ter) | Intellectual disability, autosomal dominant 14 [RCV004555199] | pathogenic | 1 | 26731308 | 26731308 | Human | 1 | name |
| 407426451 | CV3409952 | single nucleotide variant | NM_006015.6(ARID1A):c.2893C>G (p.Pro965Ala) | not provided [RCV004585884] | uncertain significance | 1 | 26766471 | 26766471 | Human | | name |
| 407474748 | CV3483081 | single nucleotide variant | NM_006015.6(ARID1A):c.2561C>T (p.Pro854Leu) | Inborn genetic diseases [RCV004663100] | uncertain significance | 1 | 26763114 | 26763114 | Human | 1 | name |
| 407509485 | CV3496474 | single nucleotide variant | NM_006015.6(ARID1A):c.2834G>T (p.Gly945Val) | not provided [RCV004698315] | uncertain significance | 1 | 26766322 | 26766322 | Human | | name |
| 408381179 | CV3501420 | single nucleotide variant | NM_006015.6(ARID1A):c.2287A>G (p.Ser763Gly) | not provided [RCV004727509] | uncertain significance | 1 | 26762187 | 26762187 | Human | | name |
| 408374090 | CV3502249 | single nucleotide variant | NM_006015.6(ARID1A):c.1244A>T (p.His415Leu) | not provided [RCV004725836] | uncertain significance | 1 | 26729757 | 26729757 | Human | | name |
| 408373776 | CV3502348 | single nucleotide variant | NM_006015.6(ARID1A):c.1210C>G (p.Gln404Glu) | not provided [RCV004725935] | uncertain significance | 1 | 26729723 | 26729723 | Human | | name |
| 408382352 | CV3504517 | single nucleotide variant | NM_006015.6(ARID1A):c.1826G>A (p.Gly609Glu) | ARID1A-related disorder [RCV004729820] | uncertain significance | 1 | 26732698 | 26732698 | Human | | name , trait , alternate_id |
| 408375022 | CV3509363 | single nucleotide variant | NM_006015.6(ARID1A):c.1075C>T (p.His359Tyr) | ARID1A-related disorder [RCV004747716] | uncertain significance | 1 | 26697478 | 26697478 | Human | | name , trait , alternate_id |
| 408373710 | CV3511568 | single nucleotide variant | NM_006015.6(ARID1A):c.2735C>T (p.Pro912Leu) | ARID1A-related disorder [RCV004745628]|not provided [RCV005059834] | likely benign|uncertain significance | 1 | 26766223 | 26766223 | Human | 1 | name , alternate_id |
| 408391019 | CV3521156 | single nucleotide variant | NM_006015.6(ARID1A):c.1846C>T (p.Pro616Ser) | not provided [RCV004762978] | uncertain significance | 1 | 26732718 | 26732718 | Human | | name |
| 408388418 | CV3527492 | single nucleotide variant | NM_006015.6(ARID1A):c.2570G>C (p.Arg857Thr) | not provided [RCV004773796] | uncertain significance | 1 | 26763123 | 26763123 | Human | | name |
| 408385961 | CV3528764 | single nucleotide variant | NM_006015.6(ARID1A):c.2072G>A (p.Gly691Asp) | not provided [RCV004772597] | uncertain significance | 1 | 26761007 | 26761007 | Human | | name |
| 596923435 | CV3530420 | single nucleotide variant | NM_006015.6(ARID1A):c.1201T>C (p.Tyr401His) | not provided [RCV004777019] | uncertain significance | 1 | 26729714 | 26729714 | Human | | name |
| 596926208 | CV3536160 | single nucleotide variant | NM_006015.6(ARID1A):c.2019G>T (p.Gln673His) | Intellectual disability, autosomal dominant 14 [RCV004788590] | uncertain significance | 1 | 26760954 | 26760954 | Human | 1 | name |
| 596928966 | CV3540664 | single nucleotide variant | NM_006015.6(ARID1A):c.2557C>T (p.Leu853Phe) | not provided [RCV004794992] | uncertain significance | 1 | 26763110 | 26763110 | Human | | name |
| 596947376 | CV3548929 | single nucleotide variant | NM_006015.6(ARID1A):c.1120C>T (p.Leu374Phe) | not provided [RCV004811253] | uncertain significance | 1 | 26697523 | 26697523 | Human | | name |
| 597706872 | CV3592618 | single nucleotide variant | NM_006015.6(ARID1A):c.1088G>A (p.Ser363Asn) | Inborn genetic diseases [RCV004957438] | uncertain significance | 1 | 26697491 | 26697491 | Human | 1 | name |
| 597706903 | CV3592638 | single nucleotide variant | NM_006015.6(ARID1A):c.2110G>T (p.Ala704Ser) | Inborn genetic diseases [RCV004957443] | uncertain significance | 1 | 26761045 | 26761045 | Human | 1 | name |
| 597660627 | CV3712681 | single nucleotide variant | NM_006015.6(ARID1A):c.2943G>A (p.Met981Ile) | Intellectual disability, autosomal dominant 14 [RCV005028444] | uncertain significance | 1 | 26766521 | 26766521 | Human | 1 | name |
| 597830456 | CV3743016 | single nucleotide variant | NM_006015.6(ARID1A):c.1198C>G (p.Pro400Ala) | not provided [RCV005062024] | likely benign | 1 | 26729711 | 26729711 | Human | | name |
| 597970306 | CV3750209 | single nucleotide variant | NM_006015.6(ARID1A):c.2291C>T (p.Ser764Phe) | not provided [RCV005084150] | uncertain significance | 1 | 26762191 | 26762191 | Human | | name |
| 597969339 | CV3753298 | single nucleotide variant | NM_006015.6(ARID1A):c.1354C>G (p.Pro452Ala) | not provided [RCV005083782] | uncertain significance | 1 | 26731155 | 26731155 | Human | | name |
| 597956280 | CV3754598 | single nucleotide variant | NM_006015.6(ARID1A):c.1223C>T (p.Pro408Leu) | not provided [RCV005080448] | likely benign | 1 | 26729736 | 26729736 | Human | | name |
| 597948048 | CV3759071 | single nucleotide variant | NM_006015.6(ARID1A):c.1486G>C (p.Ala496Pro) | not provided [RCV005078867] | likely benign | 1 | 26731287 | 26731287 | Human | | name |
| 597909719 | CV3770279 | single nucleotide variant | NM_006015.6(ARID1A):c.1090C>G (p.Pro364Ala) | not provided [RCV005113580] | uncertain significance | 1 | 26697493 | 26697493 | Human | | name |
| 597909727 | CV3770281 | single nucleotide variant | NM_006015.6(ARID1A):c.1514A>G (p.Gln505Arg) | not provided [RCV005113582] | uncertain significance | 1 | 26731315 | 26731315 | Human | | name |
| 597909738 | CV3770282 | single nucleotide variant | NM_006015.6(ARID1A):c.1689G>C (p.Gln563His) | not provided [RCV005113583] | benign | 1 | 26731490 | 26731490 | Human | | name |
| 597935018 | CV3793683 | single nucleotide variant | NM_006015.6(ARID1A):c.2261A>T (p.Gln754Leu) | not provided [RCV005132339] | uncertain significance | 1 | 26762161 | 26762161 | Human | | name |
| 597872669 | CV3806001 | single nucleotide variant | NM_006015.6(ARID1A):c.2480G>A (p.Gly827Asp) | not provided [RCV005148411] | uncertain significance | 1 | 26763033 | 26763033 | Human | | name |
| 597936519 | CV3807659 | single nucleotide variant | NM_006015.6(ARID1A):c.2862G>A (p.Met954Ile) | not provided [RCV005158038] | uncertain significance | 1 | 26766350 | 26766350 | Human | | name |
| 597864070 | CV3814126 | single nucleotide variant | NM_006015.6(ARID1A):c.2345A>C (p.His782Pro) | not provided [RCV005147195] | uncertain significance | 1 | 26762245 | 26762245 | Human | | name |
| 597861310 | CV3822494 | single nucleotide variant | NM_006015.6(ARID1A):c.1180C>T (p.Pro394Ser) | not provided [RCV005175024] | uncertain significance | 1 | 26729693 | 26729693 | Human | | name |
| 597976393 | CV3829641 | single nucleotide variant | NM_006015.6(ARID1A):c.2296C>G (p.Gln766Glu) | not provided [RCV005169908] | uncertain significance | 1 | 26762196 | 26762196 | Human | | name |
| 597959160 | CV3848619 | single nucleotide variant | NM_006015.6(ARID1A):c.2198C>T (p.Ser733Leu) | not provided [RCV005192320] | uncertain significance | 1 | 26761420 | 26761420 | Human | | name |
| 597845627 | CV3880472 | single nucleotide variant | NM_006015.6(ARID1A):c.2995A>G (p.Ser999Gly) | not provided [RCV005227360] | uncertain significance | 1 | 26767796 | 26767796 | Human | | name |
| 598225390 | CV3892355 | single nucleotide variant | NM_006015.6(ARID1A):c.1246G>A (p.Gly416Arg) | Intellectual disability, autosomal dominant 14 [RCV005254190] | uncertain significance | 1 | 26729759 | 26729759 | Human | 1 | name |
| 598160710 | CV3897912 | single nucleotide variant | NM_006015.6(ARID1A):c.1793C>T (p.Pro598Leu) | Inborn genetic diseases [RCV005261252] | uncertain significance | 1 | 26731594 | 26731594 | Human | 1 | name |
| 598162074 | CV3897971 | single nucleotide variant | NM_006015.6(ARID1A):c.1355C>T (p.Pro452Leu) | Inborn genetic diseases [RCV005261310] | uncertain significance | 1 | 26731156 | 26731156 | Human | 1 | name |
| 598162102 | CV3897979 | single nucleotide variant | NM_006015.6(ARID1A):c.2701A>T (p.Met901Leu) | Inborn genetic diseases [RCV005261317] | uncertain significance | 1 | 26763254 | 26763254 | Human | 1 | name |
| 8602175 | CV39249 | single nucleotide variant | NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) | Intellectual disability, autosomal dominant 14 [RCV000023228] | pathogenic | 1 | 26766246 | 26766246 | Human | 1 | name |
| 616933955 | CV4011928 | single nucleotide variant | NM_006015.6(ARID1A):c.1004A>G (p.Gln335Arg) | not specified [RCV005408477] | uncertain significance | 1 | 26697407 | 26697407 | Human | | name |
| 616933458 | CV4013690 | deletion | NM_006015.6(ARID1A):c.3092del (p.Thr1031fs) | Intellectual disability, autosomal dominant 14 [RCV005411183] | pathogenic | 1 | 26767893 | 26767893 | Human | 1 | name |
| 616939577 | CV4014072 | single nucleotide variant | NM_006015.6(ARID1A):c.1189G>A (p.Gly397Arg) | not provided [RCV005413564] | uncertain significance | 1 | 26729702 | 26729702 | Human | | name |
| 616940042 | CV4014232 | single nucleotide variant | NM_006015.6(ARID1A):c.1076A>G (p.His359Arg) | not provided [RCV005413725] | uncertain significance | 1 | 26697479 | 26697479 | Human | | name |
| 617153821 | CV4016909 | single nucleotide variant | NM_006015.6(ARID1A):c.1834G>C (p.Ala612Pro) | Intellectual disability, autosomal dominant 14 [RCV005416006] | uncertain significance | 1 | 26732706 | 26732706 | Human | 1 | name |
| 617154092 | CV4022255 | single nucleotide variant | NM_006015.6(ARID1A):c.2167C>A (p.Gln723Lys) | not provided [RCV005429611] | uncertain significance | 1 | 26761389 | 26761389 | Human | | name |
| 617154139 | CV4022328 | single nucleotide variant | NM_006015.6(ARID1A):c.1906C>T (p.Pro636Ser) | not provided [RCV005429684] | uncertain significance | 1 | 26732778 | 26732778 | Human | | name |
| 617154334 | CV4022660 | single nucleotide variant | NM_006015.6(ARID1A):c.2783C>G (p.Pro928Arg) | not provided [RCV005430018] | uncertain significance | 1 | 26766271 | 26766271 | Human | | name |
| 25317159 | CV805073 | deletion | NM_006015.6(ARID1A):c.5693del (p.Pro1898fs) | Intellectual disability, autosomal dominant 14 [RCV001007870] | pathogenic | 1 | 26779587 | 26779587 | Human | 1 | name |
| 8629463 | CV84610 | single nucleotide variant | NM_006015.4(ARID1A):c.1867G>T (p.Gly623Ter) | Malignant melanoma [RCV000064692] | not provided | 1 | 26732739 | 26732739 | Human | | name |
| 28880093 | CV858940 | single nucleotide variant | NM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys) | ARID1A-related disorder [RCV004746236]|not provided [RCV001090917] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 26763271 | 26763271 | Human | 1 | name , alternate_id |
| 38464734 | CV961500 | single nucleotide variant | NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter) | Intellectual disability, autosomal dominant 14 [RCV001249721] | pathogenic | 1 | 26731403 | 26731403 | Human | 1 | name |
| 40903450 | CV977173 | single nucleotide variant | NM_006015.6(ARID1A):c.2186C>T (p.Pro729Leu) | Intellectual disability, autosomal dominant 14 [RCV001270726] | uncertain significance | 1 | 26761408 | 26761408 | Human | 1 | name |
| 42723759 | CV984659 | single nucleotide variant | NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp) | Intellectual disability, autosomal dominant 14 [RCV001291774] | uncertain significance | 1 | 26766340 | 26766340 | Human | 1 | name |
| 126743333 | CV1015707 | single nucleotide variant | NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu) | ARID1A-related disorder [RCV003898315]|Intellectual disability, autosomal dominant 14 [RCV001330177] | uncertain significance | 1 | 26731513 | 26731513 | Human | 1 | name , alternate_id |
| 150405276 | CV1192845 | deletion | NM_006015.6(ARID1A):c.261_278del (p.Ala88_Gly93del) | ARID1A-related disorder [RCV004746431]|not provided [RCV001571556] | likely benign|conflicting interpretations of pathogenicity | 1 | 26696654 | 26696671 | Human | 1 | alternate_id |
| 150435516 | CV1244430 | single nucleotide variant | NM_006015.6(ARID1A):c.5719A>T (p.Ile1907Phe) | ARID1A-related disorder [RCV003968433]|not provided [RCV001665421] | likely benign|conflicting interpretations of pathogenicity | 1 | 26779617 | 26779617 | Human | 1 | alternate_id |
| 150435670 | CV1244483 | deletion | NM_006015.6(ARID1A):c.250_267del (p.Gly84_Gly89del) | ARID1A-related disorder [RCV003931264]|not provided [RCV001665474] | benign|likely benign | 1 | 26696650 | 26696667 | Human | 1 | alternate_id |
| 150460648 | CV1253137 | single nucleotide variant | NM_006015.6(ARID1A):c.5615C>T (p.Ala1872Val) | ARID1A-related disorder [RCV003921322]|not provided [RCV001669466] | benign|likely benign | 1 | 26779513 | 26779513 | Human | 1 | alternate_id |
| 150492710 | CV1281376 | single nucleotide variant | NM_006015.6(ARID1A):c.3046G>A (p.Gly1016Ser) | ARID1A-related disorder [RCV003931292]|not provided [RCV001716867] | benign|likely benign | 1 | 26767847 | 26767847 | Human | 1 | alternate_id |
| 151353896 | CV1327448 | single nucleotide variant | NM_006015.6(ARID1A):c.5745G>T (p.Leu1915Phe) | ARID1A-related disorder [RCV003976220]|not specified [RCV001817392] | uncertain significance | 1 | 26779643 | 26779643 | Human | 1 | alternate_id |
| 8686865 | CV137287 | single nucleotide variant | NM_006015.6(ARID1A):c.3967C>T (p.Arg1323Cys) | ARID1A-related disorder [RCV004745198]|not provided [RCV001575617]|not specified [RCV000120061] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 1 | 26773680 | 26773680 | Human | 1 | alternate_id |
| 8686868 | CV137290 | single nucleotide variant | NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) | ARID1A-related disorder [RCV003935136]|Intellectual disability, autosomal dominant 14 [RCV002259634]|not provided [RCV001636678]|not specified [RCV000120064] | benign|likely benign|not provided | 1 | 26779234 | 26779234 | Human | 1 | alternate_id |
| 8686869 | CV137291 | single nucleotide variant | NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) | ARID1A-related disorder [RCV003925169]|Intellectual disability, autosomal dominant 14 [RCV002259635]|not provided [RCV000514601]|not specified [RCV000120065] | benign|likely benign|not provided | 1 | 26779615 | 26779615 | Human | 1 | alternate_id |
| 151725332 | CV1452292 | single nucleotide variant | NM_006015.6(ARID1A):c.5012G>A (p.Arg1671Gln) | ARID1A-related disorder [RCV004729038]|not provided [RCV002040605] | uncertain significance | 1 | 26775595 | 26775595 | Human | 1 | alternate_id |
| 152041791 | CV1553607 | single nucleotide variant | NM_006015.6(ARID1A):c.1529A>C (p.Gln510Pro) | ARID1A-related disorder [RCV003958621]|Inborn genetic diseases [RCV002993467]|not provided [RCV002088060] | likely benign|uncertain significance | 1 | 26731330 | 26731330 | Human | 2 | alternate_id |
| 156101505 | CV1982013 | single nucleotide variant | NM_006015.6(ARID1A):c.1483C>A (p.His495Asn) | ARID1A-related disorder [RCV004747102]|not provided [RCV002622232] | likely benign|uncertain significance | 1 | 26731284 | 26731284 | Human | 1 | alternate_id |
| 10408503 | CV206791 | microsatellite | NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) | ARID1A-related disorder [RCV003955138]|not provided [RCV000727463]|not specified [RCV000194517] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 26697129 | 26697130 | Human | | alternate_id |
| 10405436 | CV206794 | single nucleotide variant | NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro) | ARID1A-related disorder [RCV003895241]|not provided [RCV000955690]|not specified [RCV000192470] | benign|likely benign|uncertain significance | 1 | 26779677 | 26779677 | Human | 1 | alternate_id |
| 155903569 | CV2127122 | single nucleotide variant | NM_006015.6(ARID1A):c.3242A>G (p.Asn1081Ser) | ARID1A-related disorder [RCV003961321]|not provided [RCV002967572] | benign|likely benign | 1 | 26771162 | 26771162 | Human | 1 | alternate_id |
| 156107922 | CV2161081 | single nucleotide variant | NM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu) | ARID1A-related disorder [RCV003418712]|not provided [RCV003038828] | likely benign|uncertain significance | 1 | 26780550 | 26780550 | Human | 1 | alternate_id |
| 11641902 | CV273718 | single nucleotide variant | NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met) | ARID1A-related disorder [RCV004745325]|not provided [RCV000364065] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26731516 | 26731516 | Human | 1 | alternate_id |
| 401908817 | CV2796959 | single nucleotide variant | NM_006015.6(ARID1A):c.3337C>T (p.Pro1113Ser) | ARID1A-related disorder [RCV003397698] | uncertain significance | 1 | 26771257 | 26771257 | Human | | trait , alternate_id |
| 401925890 | CV2798479 | single nucleotide variant | NM_006015.6(ARID1A):c.5623C>T (p.Pro1875Ser) | ARID1A-related disorder [RCV003405777] | uncertain significance | 1 | 26779521 | 26779521 | Human | | trait , alternate_id |
| 401913743 | CV2799097 | single nucleotide variant | NM_006015.6(ARID1A):c.5758A>G (p.Ser1920Gly) | ARID1A-related disorder [RCV003400243] | likely pathogenic | 1 | 26779656 | 26779656 | Human | | trait , alternate_id |
| 401914679 | CV2799313 | insertion | NM_006015.6(ARID1A):c.3858_3859insT (p.Arg1287Ter) | ARID1A-related disorder [RCV003400429] | pathogenic|likely pathogenic | 1 | 26773488 | 26773489 | Human | | trait , alternate_id |
| 401935079 | CV2799830 | single nucleotide variant | NM_006015.6(ARID1A):c.6472C>T (p.Arg2158Ter) | ARID1A-related disorder [RCV003412496] | likely pathogenic | 1 | 26780370 | 26780370 | Human | | trait , alternate_id |
| 401903392 | CV2799958 | single nucleotide variant | NM_006015.6(ARID1A):c.5668G>C (p.Gly1890Arg) | ARID1A-related disorder [RCV003394443] | uncertain significance | 1 | 26779566 | 26779566 | Human | | trait , alternate_id |
| 401933533 | CV2800367 | single nucleotide variant | NM_006015.6(ARID1A):c.5606G>A (p.Arg1869Gln) | ARID1A-related disorder [RCV003410379]|not provided [RCV003410378] | uncertain significance | 1 | 26779504 | 26779504 | Human | 1 | alternate_id |
| 401902514 | CV2802080 | single nucleotide variant | NM_006015.6(ARID1A):c.4729A>G (p.Ser1577Gly) | ARID1A-related disorder [RCV003418906] | uncertain significance | 1 | 26774956 | 26774956 | Human | | trait , alternate_id |
| 401926145 | CV2803420 | single nucleotide variant | NM_006015.6(ARID1A):c.5639A>G (p.Lys1880Arg) | ARID1A-related disorder [RCV003405861] | uncertain significance | 1 | 26779537 | 26779537 | Human | | trait , alternate_id |
| 405184509 | CV3156027 | single nucleotide variant | NM_006015.6(ARID1A):c.5822T>G (p.Phe1941Cys) | ARID1A-related disorder [RCV003909194]|not provided [RCV003859101] | uncertain significance | 1 | 26779720 | 26779720 | Human | 1 | alternate_id |
| 405288807 | CV3193816 | single nucleotide variant | NM_006015.6(ARID1A):c.5803G>C (p.Glu1935Gln) | ARID1A-related disorder [RCV003983318] | uncertain significance | 1 | 26779701 | 26779701 | Human | | trait , alternate_id |
| 405272740 | CV3201356 | single nucleotide variant | NM_006015.6(ARID1A):c.4426A>G (p.Met1476Val) | ARID1A-related disorder [RCV003901419] | uncertain significance | 1 | 26774653 | 26774653 | Human | | trait , alternate_id |
| 405279445 | CV3217456 | single nucleotide variant | NM_006015.6(ARID1A):c.3769G>A (p.Gly1257Ser) | ARID1A-related disorder [RCV003976865] | uncertain significance | 1 | 26773399 | 26773399 | Human | | trait , alternate_id |
| 408371224 | CV3503693 | single nucleotide variant | NM_006015.6(ARID1A):c.3809A>G (p.Asn1270Ser) | ARID1A-related disorder [RCV004724581] | uncertain significance | 1 | 26773439 | 26773439 | Human | | trait , alternate_id |
| 408377930 | CV3504954 | single nucleotide variant | NM_006015.6(ARID1A):c.4721C>T (p.Pro1574Leu) | ARID1A-related disorder [RCV004724556]|not provided [RCV004767761] | uncertain significance | 1 | 26774948 | 26774948 | Human | 1 | alternate_id |
| 408376215 | CV3505670 | single nucleotide variant | NM_006015.6(ARID1A):c.6419C>G (p.Pro2140Arg) | ARID1A-related disorder [RCV004726634] | uncertain significance | 1 | 26780317 | 26780317 | Human | | trait , alternate_id |
| 408375585 | CV3506339 | deletion | NM_006015.6(ARID1A):c.1014_1028del (p.Ala345_Ala349del) | ARID1A-related disorder [RCV004726232] | uncertain significance | 1 | 26697417 | 26697431 | Human | | trait , alternate_id |
| 408373977 | CV3513912 | single nucleotide variant | NM_006015.6(ARID1A):c.3527T>C (p.Leu1176Ser) | ARID1A-related disorder [RCV004745902] | uncertain significance | 1 | 26772620 | 26772620 | Human | | trait , alternate_id |
| 408374077 | CV3514024 | microsatellite | NM_006015.6(ARID1A):c.483CGC[6] (p.Ala167_Val168insAlaAla) | ARID1A-related disorder [RCV004745923] | uncertain significance | 1 | 26696885 | 26696886 | Human | | trait , alternate_id |
| 408374401 | CV3516205 | single nucleotide variant | NM_006015.6(ARID1A):c.3884G>A (p.Gly1295Glu) | ARID1A-related disorder [RCV004746746] | uncertain significance | 1 | 26773597 | 26773597 | Human | | trait , alternate_id |
| 13216258 | CV427762 | microsatellite | NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup) | ARID1A-related disorder [RCV003932819]|Astrocytoma [RCV000590829]|Inborn genetic diseases [RCV002524155]|not provided [RCV001662491]|not specified [RCV000503545] | likely benign|uncertain significance | 1 | 26696448 | 26696449 | Human | | alternate_id |
| 13213546 | CV427766 | microsatellite | NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup) | ARID1A-related disorder [RCV003915363]|not provided [RCV002527199]|not specified [RCV000500144] | benign|likely benign|uncertain significance | 1 | 26696649 | 26696650 | Human | | alternate_id |
| 13213518 | CV427772 | microsatellite | NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup) | ARID1A-related disorder [RCV003925447]|Inborn genetic diseases [RCV005260147]|not provided [RCV001683525]|not specified [RCV000500108] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 26696885 | 26696886 | Human | | alternate_id |
| 13214127 | CV427778 | deletion | NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) | ARID1A-related disorder [RCV003960150]|Inborn genetic diseases [RCV002527200]|Intellectual disability, autosomal dominant 14 [RCV001262311]|not provided [RCV000761646]|not specified [RCV000500879] | benign|likely benign|conflicting interpretations of pathogenicity | 1 | 26697418 | 26697432 | Human | 2 | alternate_id |
| 13517822 | CV491464 | single nucleotide variant | NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys) | ARID1A-related disorder [RCV004745498]|not provided [RCV000596833] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 26779144 | 26779144 | Human | 1 | alternate_id |
| 13533065 | CV511263 | single nucleotide variant | NM_006015.6(ARID1A):c.3407C>T (p.Ala1136Val) | ARID1A-related disorder [RCV004745506]|Inborn genetic diseases [RCV000624834]|not provided [RCV002060691] | likely benign|uncertain significance | 1 | 26772500 | 26772500 | Human | 2 | alternate_id |
| 13831963 | CV582460 | microsatellite | NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup) | ARID1A-related disorder [RCV003908017]|Inborn genetic diseases [RCV002535036]|not provided [RCV000722648] | benign|likely benign|uncertain significance | 1 | 26696448 | 26696449 | Human | | alternate_id |
| 15172544 | CV696661 | microsatellite | NM_006015.6(ARID1A):c.48GCC[4] (p.Pro21del) | ARID1A-related disorder [RCV003978204]|not provided [RCV000950049] | pathogenic|benign|likely benign | 1 | 26696449 | 26696451 | Human | | name , alternate_id |
| 15122539 | CV732353 | single nucleotide variant | NM_006015.6(ARID1A):c.1597C>T (p.Pro533Ser) | ARID1A-related disorder [RCV003895468]|not provided [RCV000896256] | benign|likely benign | 1 | 26731398 | 26731398 | Human | 1 | alternate_id |
| 38596538 | CV963486 | single nucleotide variant | NM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln) | ARID1A-related disorder [RCV003953607]|Intellectual disability [RCV001251893]|not provided [RCV001702588] | likely benign | 1 | 26779534 | 26779534 | Human | 3 | alternate_id |
| 150337904 | CV1166616 | deletion | NM_006015.6(ARID1A):c.1708_1766del (p.Pro570fs) | ARID1A-related BAFopathy [RCV001533057] | pathogenic | 1 | 26731503 | 26731561 | Human | | trait |
| 150337930 | CV1166618 | single nucleotide variant | NM_006015.6(ARID1A):c.3146T>G (p.Leu1049Arg) | ARID1A-related BAFopathy [RCV001533077] | likely pathogenic | 1 | 26767947 | 26767947 | Human | | trait |
| 597878539 | CV3744386 | indel | NM_006015.6(ARID1A):c.2878+12_2878+13delinsGG | not provided [RCV005069600] | uncertain significance | 1 | 26766378 | 26766379 | Human | | name |
| 127261665 | CV1087302 | single nucleotide variant | NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys) | Intellectual disability, autosomal dominant 14 [RCV001420562]|not provided [RCV002291757] | uncertain significance | 1 | 26761416 | 26761416 | Human | 1 | name |
| 150419138 | CV1179243 | single nucleotide variant | NM_006015.6(ARID1A):c.2881A>C (p.Met961Leu) | Inborn genetic diseases [RCV002568980]|not provided [RCV001550905] | likely benign|uncertain significance | 1 | 26766459 | 26766459 | Human | 1 | name |
| 150426638 | CV1186175 | single nucleotide variant | NM_006015.6(ARID1A):c.2657C>T (p.Pro886Leu) | not provided [RCV001559830] | uncertain significance | 1 | 26763210 | 26763210 | Human | | name |
| 152031889 | CV1671023 | deletion | NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) | Intellectual disability, autosomal dominant 14 [RCV002226560] | pathogenic|conflicting interpretations of pathogenicity | 1 | 26696496 | 26696505 | Human | 1 | name |
| 155945230 | CV1935579 | single nucleotide variant | NM_006015.6(ARID1A):c.1381G>A (p.Gly461Arg) | not provided [RCV002511327] | uncertain significance | 1 | 26731182 | 26731182 | Human | | name |