| 11610644 | CV323870 | single nucleotide variant | NM_000834.5(GRIN2B):c.-9G>T | Intellectual Disability, Dominant [RCV000384107] | uncertain significance | 12 | 13866217 | 13866217 | Human | 1 | name |
| 616933372 | CV4011458 | single nucleotide variant | NM_000834.5(GRIN2B):c.*1G>C | not specified [RCV005407539] | uncertain significance | 12 | 13562782 | 13562782 | Human | | name |
| 8691257 | CV141217 | single nucleotide variant | NM_000834.5(GRIN2B):c.-15G>A | not provided [RCV004708019]|not specified [RCV000125318] | benign|likely benign | 12 | 13866223 | 13866223 | Human | | name |
| 10396106 | CV202682 | single nucleotide variant | NM_000834.5(GRIN2B):c.-10C>T | not provided [RCV000187691] | uncertain significance | 12 | 13866218 | 13866218 | Human | | name |
| 11523943 | CV244816 | single nucleotide variant | NM_000834.5(GRIN2B):c.-12G>A | not specified [RCV000236791] | likely benign | 12 | 13866220 | 13866220 | Human | | name |
| 11606631 | CV316404 | single nucleotide variant | NM_000834.4(GRIN2B):c.*30C>G | Intellectual Disability, Dominant [RCV000333974] | uncertain significance | 12 | 13562753 | 13562753 | Human | | name |
| 14743836 | CV656126 | single nucleotide variant | NM_000834.5(GRIN2B):c.-47G>T | not provided [RCV000842341] | likely benign | 12 | 13979956 | 13979956 | Human | | name |
| 150453462 | CV1275466 | deletion | NM_000834.5(GRIN2B):c.-208del | not provided [RCV001706973] | benign | 12 | 13980117 | 13980117 | Human | | name |
| 11607620 | CV316381 | single nucleotide variant | NM_000834.4(GRIN2B):c.*891G>T | Intellectual Disability, Dominant [RCV000345509] | uncertain significance | 12 | 13561892 | 13561892 | Human | | name |
| 11608975 | CV316394 | single nucleotide variant | NM_000834.5(GRIN2B):c.*293G>A | Intellectual Disability, Dominant [RCV000362004] | uncertain significance | 12 | 13562490 | 13562490 | Human | 1 | name |
| 11611502 | CV316398 | single nucleotide variant | NM_000834.4(GRIN2B):c.*285G>A | Intellectual Disability, Dominant [RCV000395690] | uncertain significance | 12 | 13562498 | 13562498 | Human | | name |
| 11606354 | CV316403 | single nucleotide variant | NM_000834.4(GRIN2B):c.*214C>A | Intellectual Disability, Dominant [RCV000330652] | uncertain significance | 12 | 13562569 | 13562569 | Human | | name |
| 11611080 | CV323803 | single nucleotide variant | NM_000834.4(GRIN2B):c.*988A>G | Intellectual Disability, Dominant [RCV000389607] | likely benign | 12 | 13561795 | 13561795 | Human | | name |
| 11649538 | CV323815 | single nucleotide variant | NM_000834.4(GRIN2B):c.*951G>C | Intellectual Disability, Dominant [RCV000288166] | uncertain significance | 12 | 13561832 | 13561832 | Human | | name |
| 11664206 | CV323817 | single nucleotide variant | NM_000834.4(GRIN2B):c.*862T>C | Intellectual Disability, Dominant [RCV000403372] | uncertain significance | 12 | 13561921 | 13561921 | Human | | name |
| 11603947 | CV323824 | single nucleotide variant | NM_000834.4(GRIN2B):c.*342C>T | Intellectual Disability, Dominant [RCV000304950] | uncertain significance | 12 | 13562441 | 13562441 | Human | | name |
| 11659294 | CV323825 | single nucleotide variant | NM_000834.5(GRIN2B):c.*232T>C | Intellectual Disability, Dominant [RCV000356347] | uncertain significance | 12 | 13562551 | 13562551 | Human | 1 | name |
| 11616813 | CV329903 | single nucleotide variant | NM_000834.4(GRIN2B):c.*235T>A | Intellectual Disability, Dominant [RCV000298030] | uncertain significance | 12 | 13562548 | 13562548 | Human | | name |
| 11612964 | CV329906 | single nucleotide variant | NM_000834.4(GRIN2B):c.*219C>T | Intellectual Disability, Dominant [RCV000263881] | likely benign | 12 | 13562564 | 13562564 | Human | | name |
| 11660663 | CV329918 | single nucleotide variant | NM_000834.4(GRIN2B):c.*146G>A | Intellectual Disability, Dominant [RCV000368984] | uncertain significance | 12 | 13562637 | 13562637 | Human | | name |
| 11616141 | CV331204 | single nucleotide variant | NM_000834.4(GRIN2B):c.*567A>C | Intellectual Disability, Dominant [RCV000291839] | likely benign | 12 | 13562216 | 13562216 | Human | | name |
| 11620705 | CV331211 | single nucleotide variant | NM_000834.5(GRIN2B):c.*409T>G | not provided [RCV001693667] | benign|likely benign | 12 | 13562374 | 13562374 | Human | | name |
| 11625334 | CV331223 | single nucleotide variant | NM_000834.4(GRIN2B):c.*368A>G | Intellectual Disability, Dominant [RCV000397388] | uncertain significance | 12 | 13562415 | 13562415 | Human | | name |
| 21072343 | CV791220 | single nucleotide variant | NM_000834.5(GRIN2B):c.-205A>T | Intellectual disability, autosomal dominant 6 [RCV000988793] | likely benign | 12 | 13980114 | 13980114 | Human | 1 | name |
| 127332603 | CV1122487 | single nucleotide variant | NM_000834.5(GRIN2B):c.411+9G>A | Intellectual disability, autosomal dominant 6 [RCV001472321] | likely benign | 12 | 13865789 | 13865789 | Human | 1 | name |
| 151827956 | CV1423775 | single nucleotide variant | NM_000834.5(GRIN2B):c.412-2A>G | Intellectual disability, autosomal dominant 6 [RCV001977759] | likely pathogenic | 12 | 13753917 | 13753917 | Human | 1 | name |
| 155804201 | CV1866622 | single nucleotide variant | NM_000834.5(GRIN2B):c.411+4A>C | not provided [RCV002481182] | uncertain significance | 12 | 13865794 | 13865794 | Human | | name |
| 11610785 | CV316379 | single nucleotide variant | NM_000834.4(GRIN2B):c.*1164A>G | Intellectual Disability, Dominant [RCV000386080] | uncertain significance | 12 | 13561619 | 13561619 | Human | | name |
| 11606557 | CV316380 | single nucleotide variant | NM_000834.4(GRIN2B):c.*1074C>T | Intellectual Disability, Dominant [RCV000332776] | likely benign | 12 | 13561709 | 13561709 | Human | | name |
| 11599059 | CV323800 | single nucleotide variant | NM_000834.5(GRIN2B):c.*1230G>C | Intellectual Disability, Dominant [RCV000262331]|not provided [RCV002275023] | benign|likely benign|uncertain significance | 12 | 13561553 | 13561553 | Human | 1 | name |
| 11616377 | CV329902 | single nucleotide variant | NM_000834.4(GRIN2B):c.*1153T>C | Intellectual Disability, Dominant [RCV000293901] | uncertain significance | 12 | 13561630 | 13561630 | Human | | name |
| 11618977 | CV331203 | single nucleotide variant | NM_000834.4(GRIN2B):c.*1179C>T | Intellectual Disability, Dominant [RCV000319827] | uncertain significance | 12 | 13561604 | 13561604 | Human | | name |
| 597834057 | CV3864210 | single nucleotide variant | NM_000834.5(GRIN2B):c.411+8G>A | Intellectual disability, autosomal dominant 6 [RCV005209846] | likely benign | 12 | 13865790 | 13865790 | Human | 1 | name |
| 8567881 | CV38683 | single nucleotide variant | NM_000834.5(GRIN2B):c.411+1G>A | Intellectual disability, autosomal dominant 6 [RCV000022580] | pathogenic | 12 | 13865797 | 13865797 | Human | 1 | name |
| 597848136 | CV3872791 | single nucleotide variant | NM_000834.5(GRIN2B):c.412-6T>C | Intellectual disability, autosomal dominant 6 [RCV005212428] | likely benign | 12 | 13753921 | 13753921 | Human | 1 | name |
| 15125663 | CV775849 | deletion | NM_000834.5(GRIN2B):c.412-5del | Intellectual disability, autosomal dominant 6 [RCV001445785] | likely benign | 12 | 13753920 | 13753920 | Human | 1 | name |
| 21074227 | CV796730 | single nucleotide variant | NM_000834.5(GRIN2B):c.411+1G>T | not provided [RCV000994861] | pathogenic|likely pathogenic | 12 | 13865797 | 13865797 | Human | | name |
| 127251349 | CV1079273 | single nucleotide variant | NM_000834.5(GRIN2B):c.1781-4C>A | Intellectual disability, autosomal dominant 6 [RCV001400054] | likely benign | 12 | 13608836 | 13608836 | Human | 1 | name |
| 127240911 | CV1101029 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-5T>C | Inborn genetic diseases [RCV002420982]|Intellectual disability, autosomal dominant 6 [RCV001434317] | likely benign|uncertain significance | 12 | 13571969 | 13571969 | Human | 2 | name |
| 127290888 | CV1122477 | single nucleotide variant | NM_000834.5(GRIN2B):c.2598+6T>C | Intellectual disability, autosomal dominant 6 [RCV001475894] | likely benign | 12 | 13567019 | 13567019 | Human | 1 | name |
| 127325346 | CV1122479 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-8C>T | Intellectual disability, autosomal dominant 6 [RCV001468459] | likely benign | 12 | 13571972 | 13571972 | Human | 1 | name |
| 127301766 | CV1156948 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+9T>C | Intellectual disability, autosomal dominant 6 [RCV001514817]|not provided [RCV001692405] | benign | 12 | 13675736 | 13675736 | Human | 1 | name |
| 150501825 | CV1241045 | single nucleotide variant | NM_000834.5(GRIN2B):c.-19+51A>C | not provided [RCV001656941] | benign | 12 | 13979877 | 13979877 | Human | | name |
| 150544412 | CV1313326 | deletion | NM_000834.5(GRIN2B):c.2010+1del | not provided [RCV001783401] | pathogenic | 12 | 13608602 | 13608602 | Human | | name |
| 152153574 | CV1523115 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-9C>G | Intellectual disability, autosomal dominant 6 [RCV002179814] | benign | 12 | 13570026 | 13570026 | Human | 1 | name |
| 152104096 | CV1544636 | single nucleotide variant | NM_000834.5(GRIN2B):c.412-20T>C | Intellectual disability, autosomal dominant 6 [RCV002115720] | benign | 12 | 13753935 | 13753935 | Human | 1 | name |
| 152032571 | CV1614821 | single nucleotide variant | NM_000834.5(GRIN2B):c.412-15C>G | Intellectual disability, autosomal dominant 6 [RCV002086605] | likely benign | 12 | 13753930 | 13753930 | Human | 1 | name |
| 152049265 | CV1627686 | single nucleotide variant | NM_000834.5(GRIN2B):c.411+17G>C | Intellectual disability, autosomal dominant 6 [RCV002108738] | likely benign | 12 | 13865781 | 13865781 | Human | 1 | name |
| 152049626 | CV1627775 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-5T>A | Intellectual disability, autosomal dominant 6 [RCV002108784] | likely benign | 12 | 13675864 | 13675864 | Human | 1 | name |
| 152027629 | CV1628977 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+8C>G | Intellectual disability, autosomal dominant 6 [RCV002104957] | likely benign | 12 | 13611717 | 13611717 | Human | 1 | name |
| 155642344 | CV1707341 | single nucleotide variant | NM_000834.5(GRIN2B):c.2010+1G>C | Intellectual disability, autosomal dominant 6 [RCV002288271] | likely pathogenic | 12 | 13608602 | 13608602 | Human | 1 | name |
| 155692485 | CV1845708 | single nucleotide variant | NM_000834.5(GRIN2B):c.2598+1G>T | Inborn genetic diseases [RCV002426185] | uncertain significance | 12 | 13567024 | 13567024 | Human | 1 | name |
| 156173981 | CV1881529 | single nucleotide variant | NM_000834.5(GRIN2B):c.2171+9T>C | Intellectual disability, autosomal dominant 6 [RCV003083328] | likely benign | 12 | 13571795 | 13571795 | Human | 1 | name |
| 156352528 | CV1893327 | single nucleotide variant | NM_000834.5(GRIN2B):c.2010+5G>A | Intellectual disability, autosomal dominant 6 [RCV003091091] | uncertain significance | 12 | 13608598 | 13608598 | Human | 1 | name |
| 156362842 | CV1900738 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-7T>C | Intellectual disability, autosomal dominant 6 [RCV002581847] | likely benign | 12 | 13571971 | 13571971 | Human | 1 | name |
| 155945429 | CV1935592 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+1G>A | not provided [RCV002511340] | pathogenic | 12 | 13615113 | 13615113 | Human | | name |
| 156321792 | CV1992065 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-6G>T | Intellectual disability, autosomal dominant 6 [RCV002649295]|not provided [RCV003395500] | likely benign | 12 | 13570023 | 13570023 | Human | 1 | name |
| 10396104 | CV202671 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+8C>T | GRIN2B-related disorder [RCV004539738]|Intellectual disability, autosomal dominant 6 [RCV000655343]|not specified [RCV000187689] | benign|likely benign | 12 | 13611717 | 13611717 | Human | 1 | name , alternate_id |
| 10396101 | CV202683 | single nucleotide variant | NM_000834.5(GRIN2B):c.-18-10G>C | not provided [RCV003390915]|not specified [RCV000187686] | benign|likely benign|uncertain significance | 12 | 13866236 | 13866236 | Human | | name |
| 155907392 | CV2077433 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+9T>C | Intellectual disability, autosomal dominant 6 [RCV002858239] | likely benign | 12 | 13615105 | 13615105 | Human | 1 | name |
| 156053558 | CV2165393 | deletion | NM_000834.5(GRIN2B):c.2172-8del | Intellectual disability, autosomal dominant 6 [RCV003019479] | likely benign | 12 | 13570025 | 13570025 | Human | 1 | name |
| 156295157 | CV2183267 | single nucleotide variant | NM_000834.5(GRIN2B):c.2599-7G>C | Intellectual disability, autosomal dominant 6 [RCV003027840] | likely benign | 12 | 13564646 | 13564646 | Human | 1 | name |
| 156164712 | CV2189921 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-1G>C | Intellectual disability, autosomal dominant 6 [RCV003040838] | pathogenic | 12 | 13675860 | 13675860 | Human | 1 | name |
| 11523798 | CV244798 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-6G>A | Intellectual disability, autosomal dominant 6 [RCV001476776]|not provided [RCV000549757]|not specified [RCV000236415] | likely benign | 12 | 13570023 | 13570023 | Human | 1 | name |
| 11524084 | CV244803 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+9G>A | Intellectual disability, autosomal dominant 6 [RCV000867805]|not provided [RCV003389770]|not specified [RCV000236898] | benign | 12 | 13611716 | 13611716 | Human | 1 | name |
| 11524149 | CV244811 | single nucleotide variant | NM_000834.5(GRIN2B):c.412-14T>C | Intellectual disability, autosomal dominant 6 [RCV002057259]|not specified [RCV000236893] | likely benign | 12 | 13753929 | 13753929 | Human | 1 | name |
| 329848461 | CV2523229 | single nucleotide variant | NM_000834.5(GRIN2B):c.1500+1G>A | Intellectual disability, autosomal dominant 6 [RCV003224989] | likely pathogenic | 12 | 13615492 | 13615492 | Human | 1 | name |
| 401795872 | CV2742837 | single nucleotide variant | NM_000834.5(GRIN2B):c.2599-1G>A | not provided [RCV003325353] | likely pathogenic | 12 | 13564640 | 13564640 | Human | | name |
| 405024539 | CV3082037 | single nucleotide variant | NM_000834.5(GRIN2B):c.1655-9C>A | Intellectual disability, autosomal dominant 6 [RCV003785643] | likely benign | 12 | 13611859 | 13611859 | Human | 1 | name |
| 405072518 | CV3099911 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+8A>G | Intellectual disability, autosomal dominant 6 [RCV003799626] | uncertain significance | 12 | 13615106 | 13615106 | Human | 1 | name |
| 405259916 | CV3195313 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-9C>T | GRIN2B-related disorder [RCV004534648] | likely benign | 12 | 13616666 | 13616666 | Human | | name , trait , alternate_id |
| 405291421 | CV3222400 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-1G>T | See cases [RCV003985708] | likely pathogenic | 12 | 13616658 | 13616658 | Human | | name |
| 11620454 | CV329924 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-8C>T | Intellectual disability, autosomal dominant 6 [RCV000655346]|not specified [RCV005055859] | likely benign|uncertain significance | 12 | 13570025 | 13570025 | Human | 1 | name |
| 407427772 | CV3412070 | single nucleotide variant | NM_000834.5(GRIN2B):c.1329-9A>G | not provided [RCV004592241] | uncertain significance | 12 | 13615673 | 13615673 | Human | | name |
| 407574431 | CV3499442 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-1G>T | not provided [RCV004719436] | pathogenic | 12 | 13571965 | 13571965 | Human | | name |
| 8567884 | CV38686 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-2A>G | Intellectual disability, autosomal dominant 6 [RCV000022583] | pathogenic | 12 | 13567265 | 13567265 | Human | 1 | name |
| 597875712 | CV3871371 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-6C>T | Intellectual disability, autosomal dominant 6 [RCV005216585] | likely benign | 12 | 13567269 | 13567269 | Human | 1 | name |
| 597876186 | CV3871410 | single nucleotide variant | NM_000834.5(GRIN2B):c.1655-6C>A | Intellectual disability, autosomal dominant 6 [RCV005216625] | likely benign | 12 | 13611856 | 13611856 | Human | 1 | name |
| 597891166 | CV3871697 | single nucleotide variant | NM_000834.5(GRIN2B):c.2010+8A>T | Intellectual disability, autosomal dominant 6 [RCV005218866] | likely benign | 12 | 13608595 | 13608595 | Human | 1 | name |
| 597878640 | CV3871893 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+6A>T | Intellectual disability, autosomal dominant 6 [RCV005216944] | uncertain significance | 12 | 13675739 | 13675739 | Human | 1 | name |
| 597903292 | CV3873184 | single nucleotide variant | NM_000834.5(GRIN2B):c.1501-7C>G | Intellectual disability, autosomal dominant 6 [RCV005220622] | likely benign | 12 | 13615274 | 13615274 | Human | 1 | name |
| 597858052 | CV3877896 | single nucleotide variant | NM_000834.5(GRIN2B):c.1500+8T>A | Intellectual disability, autosomal dominant 6 [RCV005229205] | likely benign | 12 | 13615485 | 13615485 | Human | 1 | name |
| 597842240 | CV3878239 | single nucleotide variant | NM_000834.5(GRIN2B):c.2010+9C>T | Intellectual disability, autosomal dominant 6 [RCV005226728] | likely benign | 12 | 13608594 | 13608594 | Human | 1 | name |
| 13214857 | CV429412 | single nucleotide variant | NM_000834.5(GRIN2B):c.1500+7G>A | Intellectual disability, autosomal dominant 6 [RCV001480401]|not provided [RCV003456404]|not specified [RCV000501617] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13615486 | 13615486 | Human | 1 | name |
| 13487046 | CV444953 | single nucleotide variant | NM_000834.5(GRIN2B):c.1328+1G>A | not provided [RCV000523107] | pathogenic | 12 | 13616454 | 13616454 | Human | | name |
| 13483288 | CV444954 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-3C>T | Intellectual disability, autosomal dominant 6 [RCV001836833]|not provided [RCV000522017] | uncertain significance | 12 | 13616660 | 13616660 | Human | 1 | name |
| 8604311 | CV48258 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-2A>G | Intellectual disability, autosomal dominant 6 [RCV000032863] | pathogenic | 12 | 13570019 | 13570019 | Human | 1 | name |
| 13538845 | CV504242 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-4A>G | Intellectual disability, autosomal dominant 6 [RCV000867738]|not provided [RCV001707847] | likely benign | 12 | 13570021 | 13570021 | Human | 1 | name |
| 13830067 | CV580048 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+5G>A | Inborn genetic diseases [RCV002316681]|Intellectual disability, autosomal dominant 6 [RCV001501707] | likely benign|uncertain significance | 12 | 13675740 | 13675740 | Human | 2 | name |
| 14398992 | CV614369 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-8C>G | Intellectual disability, autosomal dominant 6 [RCV000767989] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 13571972 | 13571972 | Human | 1 | name |
| 14709057 | CV652460 | single nucleotide variant | NM_000834.5(GRIN2B):c.1781-3C>T | GRIN2B-related disorder [RCV004538112]|Intellectual disability, autosomal dominant 6 [RCV000811008] | benign|likely benign|uncertain significance | 12 | 13608835 | 13608835 | Human | 1 | name , alternate_id |
| 14703228 | CV652688 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+3G>A | Intellectual disability, autosomal dominant 6 [RCV000792799]|See cases [RCV002252237] | benign|uncertain significance | 12 | 13753314 | 13753314 | Human | 1 | name |
| 14979411 | CV678961 | single nucleotide variant | NM_000834.5(GRIN2B):c.2171+3A>G | Intellectual disability [RCV000851493] | pathogenic | 12 | 13571801 | 13571801 | Human | 2 | name |
| 15097975 | CV690030 | deletion | NM_000834.5(GRIN2B):c.1126-7del | Intellectual disability, autosomal dominant 6 [RCV001456332] | likely benign | 12 | 13616664 | 13616664 | Human | 1 | name |
| 15176375 | CV744688 | single nucleotide variant | NM_000834.5(GRIN2B):c.1655-5C>T | Intellectual disability, autosomal dominant 6 [RCV003768794] | likely benign | 12 | 13611855 | 13611855 | Human | 1 | name |
| 21074225 | CV796728 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-4C>T | Intellectual disability, autosomal dominant 6 [RCV002550667]|not provided [RCV000994858] | likely benign|uncertain significance | 12 | 13571968 | 13571968 | Human | 1 | name |
| 26917453 | CV852467 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+4A>G | Intellectual disability, autosomal dominant 6 [RCV001042647] | uncertain significance | 12 | 13675741 | 13675741 | Human | 1 | name |
| 38492022 | CV941028 | single nucleotide variant | NM_000834.5(GRIN2B):c.1329-8T>A | Intellectual disability, autosomal dominant 6 [RCV001223256] | likely benign|uncertain significance | 12 | 13615672 | 13615672 | Human | 1 | name |
| 127251137 | CV1079277 | single nucleotide variant | NM_000834.5(GRIN2B):c.1328+10C>T | Intellectual disability, autosomal dominant 6 [RCV001417719] | likely benign | 12 | 13616445 | 13616445 | Human | 1 | name |
| 127302268 | CV1156947 | duplication | NM_000834.5(GRIN2B):c.2172-15dup | Intellectual disability, autosomal dominant 6 [RCV001514990] | benign | 12 | 13570026 | 13570027 | Human | 1 | name |
| 150410888 | CV1191371 | single nucleotide variant | NM_000834.5(GRIN2B):c.2010+25C>T | not provided [RCV001566284] | likely benign | 12 | 13608578 | 13608578 | Human | | name |
| 150404827 | CV1194641 | single nucleotide variant | NM_000834.5(GRIN2B):c.2599-29T>C | not provided [RCV001571353] | likely benign | 12 | 13564668 | 13564668 | Human | | name |
| 150475358 | CV1202232 | deletion | NM_000834.5(GRIN2B):c.411+151del | not provided [RCV001589475] | likely benign | 12 | 13865647 | 13865647 | Human | | name |
| 150489177 | CV1208384 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-63G>A | not provided [RCV001592244] | likely benign | 12 | 13570080 | 13570080 | Human | | name |
| 150482417 | CV1209965 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+86C>A | not provided [RCV001590663] | likely benign | 12 | 13675659 | 13675659 | Human | | name |
| 150505783 | CV1227474 | single nucleotide variant | NM_000834.5(GRIN2B):c.2010+38A>G | not provided [RCV001635552] | benign | 12 | 13608565 | 13608565 | Human | | name |
| 150512066 | CV1228415 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-75T>C | not provided [RCV001637547]|not specified [RCV004594419] | benign | 12 | 13567338 | 13567338 | Human | | name |
| 150501430 | CV1238395 | single nucleotide variant | NM_000834.5(GRIN2B):c.1781-43C>T | not provided [RCV001656825] | benign | 12 | 13608875 | 13608875 | Human | | name |
| 150483427 | CV1245109 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+78T>C | not provided [RCV001653286] | benign | 12 | 13611647 | 13611647 | Human | | name |
| 150452036 | CV1254906 | single nucleotide variant | NM_000834.5(GRIN2B):c.1500+73G>A | not provided [RCV001667965]|not specified [RCV004594485] | benign | 12 | 13615420 | 13615420 | Human | | name |
| 150481658 | CV1258957 | single nucleotide variant | NM_000834.5(GRIN2B):c.1329-32G>T | not provided [RCV001686087] | benign | 12 | 13615696 | 13615696 | Human | | name |
| 150469950 | CV1259744 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-67C>T | not provided [RCV001684045] | benign | 12 | 13567330 | 13567330 | Human | | name |
| 150485656 | CV1280805 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-73A>G | not provided [RCV001715640]|not specified [RCV004598127] | benign | 12 | 13616730 | 13616730 | Human | | name |
| 150485676 | CV1280809 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+59T>C | not provided [RCV001715644] | benign | 12 | 13569771 | 13569771 | Human | | name |
| 150472994 | CV1281335 | deletion | NM_000834.5(GRIN2B):c.1781-64del | not provided [RCV001713458] | benign | 12 | 13608896 | 13608896 | Human | | name |
| 150548289 | CV1316193 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+37T>C | not provided [RCV001785994] | benign | 12 | 13753280 | 13753280 | Human | | name |
| 151750554 | CV1335562 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+36G>A | not provided [RCV001847404] | likely benign | 12 | 13615078 | 13615078 | Human | | name |
| 8691259 | CV141219 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+20A>G | Intellectual disability, autosomal dominant 6 [RCV002055565]|not provided [RCV004706574]|not specified [RCV000125323] | benign | 12 | 13675725 | 13675725 | Human | 1 | name |
| 8691260 | CV141220 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-12A>G | Intellectual disability, autosomal dominant 6 [RCV002055566]|not provided [RCV004706575]|not specified [RCV000125324] | benign|likely benign | 12 | 13616669 | 13616669 | Human | 1 | name |
| 151775853 | CV1463294 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+20C>T | Intellectual disability, autosomal dominant 6 [RCV001875117] | likely benign|uncertain significance | 12 | 13753297 | 13753297 | Human | 1 | name |
| 152113009 | CV1539393 | single nucleotide variant | NM_000834.5(GRIN2B):c.1501-14C>T | Intellectual disability, autosomal dominant 6 [RCV002080508] | likely benign | 12 | 13615281 | 13615281 | Human | 1 | name |
| 152088905 | CV1541460 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+19G>T | Intellectual disability, autosomal dominant 6 [RCV002171567] | likely benign | 12 | 13615095 | 13615095 | Human | 1 | name |
| 152095446 | CV1575235 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+10G>T | Intellectual disability, autosomal dominant 6 [RCV002132563] | likely benign | 12 | 13753307 | 13753307 | Human | 1 | name |
| 152143858 | CV1582432 | deletion | NM_000834.5(GRIN2B):c.2360-10del | Intellectual disability, autosomal dominant 6 [RCV002200933] | likely benign | 12 | 13567273 | 13567273 | Human | 1 | name |
| 152112794 | CV1586444 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-20T>C | Intellectual disability, autosomal dominant 6 [RCV002197004] | likely benign | 12 | 13616677 | 13616677 | Human | 1 | name |
| 152117698 | CV1600979 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+20G>T | Intellectual disability, autosomal dominant 6 [RCV002097719] | likely benign | 12 | 13615094 | 13615094 | Human | 1 | name |
| 152076116 | CV1604469 | single nucleotide variant | NM_000834.5(GRIN2B):c.2598+11T>C | Intellectual disability, autosomal dominant 6 [RCV002092241] | likely benign | 12 | 13567014 | 13567014 | Human | 1 | name |
| 152064136 | CV1606670 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-16G>A | Intellectual disability, autosomal dominant 6 [RCV002209080] | likely benign | 12 | 13616673 | 13616673 | Human | 1 | name |
| 152175465 | CV1614319 | single nucleotide variant | NM_000834.5(GRIN2B):c.1655-18C>T | Intellectual disability, autosomal dominant 6 [RCV002163600] | likely benign | 12 | 13611868 | 13611868 | Human | 1 | name |
| 152089733 | CV1634056 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-10A>T | Intellectual disability, autosomal dominant 6 [RCV002194141] | likely benign | 12 | 13675869 | 13675869 | Human | 1 | name |
| 152101282 | CV1645778 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-19T>G | Intellectual disability, autosomal dominant 6 [RCV002173136] | likely benign | 12 | 13570036 | 13570036 | Human | 1 | name |
| 152141091 | CV1660984 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+18C>T | Intellectual disability, autosomal dominant 6 [RCV002120382] | likely benign | 12 | 13611707 | 13611707 | Human | 1 | name |
| 156403471 | CV1885794 | single nucleotide variant | NM_000834.5(GRIN2B):c.2598+14T>C | Intellectual disability, autosomal dominant 6 [RCV003069481] | likely benign | 12 | 13567011 | 13567011 | Human | 1 | name |
| 156311280 | CV1913546 | single nucleotide variant | NM_000834.5(GRIN2B):c.1501-15G>A | Intellectual disability, autosomal dominant 6 [RCV002599672] | likely benign | 12 | 13615282 | 13615282 | Human | 1 | name |
| 156299541 | CV1933393 | single nucleotide variant | NM_000834.5(GRIN2B):c.2171+10G>T | Intellectual disability, autosomal dominant 6 [RCV002629177] | likely benign | 12 | 13571794 | 13571794 | Human | 1 | name |
| 156381818 | CV2060867 | single nucleotide variant | NM_000834.5(GRIN2B):c.2599-18C>T | Intellectual disability, autosomal dominant 6 [RCV002815139] | likely benign | 12 | 13564657 | 13564657 | Human | 1 | name |
| 155970719 | CV2062451 | single nucleotide variant | NM_000834.5(GRIN2B):c.1328+11C>T | Intellectual disability, autosomal dominant 6 [RCV002842064] | likely benign | 12 | 13616444 | 13616444 | Human | 1 | name |
| 156235814 | CV2081775 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+19G>C | Intellectual disability, autosomal dominant 6 [RCV002876414] | likely benign | 12 | 13615095 | 13615095 | Human | 1 | name |
| 156332189 | CV2094893 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-20C>A | Intellectual disability, autosomal dominant 6 [RCV002899993] | likely benign | 12 | 13675879 | 13675879 | Human | 1 | name |
| 156156167 | CV2096651 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+15T>A | Intellectual disability, autosomal dominant 6 [RCV002872490] | likely benign | 12 | 13615099 | 13615099 | Human | 1 | name |
| 156206971 | CV2103793 | single nucleotide variant | NM_000834.5(GRIN2B):c.1329-15T>C | Intellectual disability, autosomal dominant 6 [RCV002931903] | likely benign | 12 | 13615679 | 13615679 | Human | 1 | name |
| 156240636 | CV2129627 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-16G>C | Intellectual disability, autosomal dominant 6 [RCV002958855] | likely benign | 12 | 13616673 | 13616673 | Human | 1 | name |
| 156192906 | CV2162275 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-16C>T | Intellectual disability, autosomal dominant 6 [RCV003041707] | likely benign | 12 | 13570033 | 13570033 | Human | 1 | name |
| 156394057 | CV2181720 | single nucleotide variant | NM_000834.5(GRIN2B):c.2171+17A>C | Intellectual disability, autosomal dominant 6 [RCV003051651] | likely benign | 12 | 13571787 | 13571787 | Human | 1 | name |
| 11523323 | CV244792 | single nucleotide variant | NM_000834.5(GRIN2B):c.2599-19C>A | Intellectual disability, autosomal dominant 6 [RCV002057256]|not specified [RCV000235562] | benign|likely benign | 12 | 13564658 | 13564658 | Human | 1 | name |
| 11523377 | CV244804 | duplication | NM_000834.5(GRIN2B):c.1655-12dup | Intellectual disability, autosomal dominant 6 [RCV002057261]|not provided [RCV000235802] | benign|likely benign | 12 | 13611861 | 13611862 | Human | 1 | name |
| 11523667 | CV244805 | single nucleotide variant | NM_000834.5(GRIN2B):c.1501-13G>A | Intellectual disability, autosomal dominant 6 [RCV002057245]|not specified [RCV000236299] | benign|likely benign | 12 | 13615280 | 13615280 | Human | 1 | name |
| 11523366 | CV244806 | single nucleotide variant | NM_000834.5(GRIN2B):c.1328+17A>G | Intellectual disability, autosomal dominant 6 [RCV002057244]|not specified [RCV000235748] | benign | 12 | 13616438 | 13616438 | Human | 1 | name |
| 401749940 | CV2735778 | single nucleotide variant | NM_001413992.1(GRIN2B):c.-684A>G | not provided [RCV003312221] | benign | 12 | 13981917 | 13981917 | Human | | name |
| 404987716 | CV3083920 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-20A>G | Intellectual disability, autosomal dominant 6 [RCV003782112] | likely benign | 12 | 13571984 | 13571984 | Human | 1 | name |
| 405021470 | CV3088095 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+12C>T | Intellectual disability, autosomal dominant 6 [RCV003795655] | likely benign | 12 | 13675733 | 13675733 | Human | 1 | name |
| 402522957 | CV3088269 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-10C>T | Intellectual disability, autosomal dominant 6 [RCV003790605] | likely benign | 12 | 13571974 | 13571974 | Human | 1 | name |
| 402508775 | CV3088841 | single nucleotide variant | NM_000834.5(GRIN2B):c.1329-15T>A | Intellectual disability, autosomal dominant 6 [RCV003780045] | likely benign | 12 | 13615679 | 13615679 | Human | 1 | name |
| 402493044 | CV3091143 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-18T>G | Intellectual disability, autosomal dominant 6 [RCV003787648] | likely benign | 12 | 13675877 | 13675877 | Human | 1 | name |
| 402493220 | CV3092147 | single nucleotide variant | NM_000834.5(GRIN2B):c.2599-19C>T | Intellectual disability, autosomal dominant 6 [RCV003787766]|not specified [RCV003988147] | likely benign | 12 | 13564658 | 13564658 | Human | 1 | name |
| 402482835 | CV3093366 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+20C>G | Intellectual disability, autosomal dominant 6 [RCV003786720] | likely benign | 12 | 13611705 | 13611705 | Human | 1 | name |
| 405016172 | CV3093983 | single nucleotide variant | NM_000834.5(GRIN2B):c.1781-14T>G | Intellectual disability, autosomal dominant 6 [RCV003784833] | likely benign | 12 | 13608846 | 13608846 | Human | 1 | name |
| 405060502 | CV3102790 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-15A>G | Intellectual disability, autosomal dominant 6 [RCV003798780] | likely benign | 12 | 13675874 | 13675874 | Human | 1 | name |
| 405171637 | CV3104581 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+17G>C | Intellectual disability, autosomal dominant 6 [RCV003803079] | likely benign | 12 | 13569813 | 13569813 | Human | 1 | name |
| 405089353 | CV3104977 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-16T>G | Intellectual disability, autosomal dominant 6 [RCV003800860] | likely benign | 12 | 13567279 | 13567279 | Human | 1 | name |
| 405012108 | CV3106436 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-20C>T | Intellectual disability, autosomal dominant 6 [RCV003794773] | likely benign | 12 | 13675879 | 13675879 | Human | 1 | name |
| 405162822 | CV3109998 | single nucleotide variant | NM_000834.5(GRIN2B):c.1655-14T>C | Intellectual disability, autosomal dominant 6 [RCV003802357] | likely benign | 12 | 13611864 | 13611864 | Human | 1 | name |
| 11610456 | CV316408 | deletion | NM_000834.5(GRIN2B):c.*25_*28del | Intellectual Disability, Dominant [RCV000381663] | uncertain significance | 12 | 13562755 | 13562758 | Human | 1 | name |
| 12846438 | CV374867 | single nucleotide variant | NM_000834.5(GRIN2B):c.1501-19C>T | Intellectual disability, autosomal dominant 6 [RCV002061403]|not specified [RCV000441654] | likely benign | 12 | 13615286 | 13615286 | Human | 1 | name |
| 597859029 | CV3864870 | single nucleotide variant | NM_000834.5(GRIN2B):c.2171+18G>T | Intellectual disability, autosomal dominant 6 [RCV005213927] | likely benign | 12 | 13571786 | 13571786 | Human | 1 | name |
| 597882252 | CV3865860 | single nucleotide variant | NM_000834.5(GRIN2B):c.2599-15C>G | Intellectual disability, autosomal dominant 6 [RCV005217525] | likely benign | 12 | 13564654 | 13564654 | Human | 1 | name |
| 597901784 | CV3876693 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+12G>C | Intellectual disability, autosomal dominant 6 [RCV005220391] | likely benign | 12 | 13615102 | 13615102 | Human | 1 | name |
| 597858395 | CV3877938 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+20C>A | Intellectual disability, autosomal dominant 6 [RCV005229248] | likely benign | 12 | 13753297 | 13753297 | Human | 1 | name |
| 597844624 | CV3878803 | single nucleotide variant | NM_000834.5(GRIN2B):c.1655-11C>G | Intellectual disability, autosomal dominant 6 [RCV005227133] | likely benign | 12 | 13611861 | 13611861 | Human | 1 | name |
| 13527310 | CV503724 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125+19A>C | Intellectual disability, autosomal dominant 6 [RCV002532761]|not provided [RCV001697956] | likely benign | 12 | 13675726 | 13675726 | Human | 1 | name |
| 13537926 | CV504004 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-15C>A | Intellectual disability, autosomal dominant 6 [RCV003767534]|not specified [RCV000611087] | likely benign | 12 | 13567278 | 13567278 | Human | 1 | name |
| 13541283 | CV504011 | deletion | NM_000834.5(GRIN2B):c.2172-10del | GRIN2B-related disorder [RCV004533248]|Intellectual disability, autosomal dominant 6 [RCV000655335]|not specified [RCV000615946] | benign|likely benign | 12 | 13570027 | 13570027 | Human | 1 | name , alternate_id |
| 13541810 | CV504247 | single nucleotide variant | NM_000834.5(GRIN2B):c.1654+10G>A | Intellectual disability, autosomal dominant 6 [RCV001294976]|not specified [RCV000616673] | likely benign|uncertain significance | 12 | 13615104 | 13615104 | Human | 1 | name |
| 13538027 | CV504715 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+16G>A | Intellectual disability, autosomal dominant 6 [RCV002066614]|not specified [RCV000611238] | likely benign | 12 | 13569814 | 13569814 | Human | 1 | name |
| 14744398 | CV665585 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+19G>A | Intellectual disability, autosomal dominant 6 [RCV002068633]|not provided [RCV000842736] | likely benign | 12 | 13611706 | 13611706 | Human | 1 | name |
| 14711416 | CV666229 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+16G>C | Intellectual disability, autosomal dominant 6 [RCV002538268]|not provided [RCV000828036] | likely benign | 12 | 13569814 | 13569814 | Human | 1 | name |
| 14731196 | CV666230 | single nucleotide variant | NM_000834.5(GRIN2B):c.1500+47C>T | not provided [RCV000836011] | likely benign | 12 | 13615446 | 13615446 | Human | | name |
| 14727807 | CV666378 | single nucleotide variant | NM_000834.5(GRIN2B):c.1501-97C>T | not provided [RCV000834490]|not specified [RCV004597887] | benign | 12 | 13615364 | 13615364 | Human | | name |
| 14723374 | CV666623 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+47C>A | not provided [RCV000832505] | benign | 12 | 13569783 | 13569783 | Human | | name |
| 14721281 | CV666627 | single nucleotide variant | NM_000834.5(GRIN2B):c.411+293C>T | not provided [RCV000831607] | likely benign | 12 | 13865505 | 13865505 | Human | | name |
| 15141020 | CV775995 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-10C>T | Intellectual disability, autosomal dominant 6 [RCV001475593] | likely benign | 12 | 13616667 | 13616667 | Human | 1 | name |
| 150340291 | CV1168262 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-240T>C | not provided [RCV001535204] | benign | 12 | 13616897 | 13616897 | Human | | name |
| 150421051 | CV1180964 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+308C>T | not provided [RCV001551835] | likely benign | 12 | 13753009 | 13753009 | Human | | name |
| 150424181 | CV1184660 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+133C>T | not provided [RCV001556326] | likely benign | 12 | 13611592 | 13611592 | Human | | name |
| 150425143 | CV1184661 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011-271C>T | not provided [RCV001557615] | likely benign | 12 | 13676130 | 13676130 | Human | | name |
| 150433760 | CV1204178 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-153T>C | not provided [RCV001581927] | likely benign | 12 | 13567416 | 13567416 | Human | | name |
| 150431245 | CV1235383 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+136G>A | not provided [RCV001641753] | benign | 12 | 13569694 | 13569694 | Human | | name |
| 150445616 | CV1248332 | single nucleotide variant | NM_000834.5(GRIN2B):c.2598+263A>G | not provided [RCV001667039] | benign | 12 | 13566762 | 13566762 | Human | | name |
| 150477893 | CV1252085 | duplication | NM_000834.5(GRIN2B):c.2599-231dup | not provided [RCV001672285] | benign | 12 | 13564862 | 13564863 | Human | | name |
| 150506359 | CV1257319 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+102G>A | not provided [RCV001678158] | benign | 12 | 13569728 | 13569728 | Human | | name |
| 150448705 | CV1260727 | single nucleotide variant | NM_000834.5(GRIN2B):c.1780+193A>G | not provided [RCV001680395] | benign | 12 | 13611532 | 13611532 | Human | | name |
| 150450024 | CV1260903 | single nucleotide variant | NM_000834.5(GRIN2B):c.1655-231T>A | not provided [RCV001680572] | benign | 12 | 13612081 | 13612081 | Human | | name |
| 150478652 | CV1273329 | single nucleotide variant | NM_000834.5(GRIN2B):c.2598+100T>C | not provided [RCV001696532] | benign | 12 | 13566925 | 13566925 | Human | | name |
| 150496226 | CV1283208 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+196A>G | not provided [RCV001717573] | benign | 12 | 13753121 | 13753121 | Human | | name |
| 150500107 | CV1283257 | single nucleotide variant | NM_000834.5(GRIN2B):c.1126-134C>G | not provided [RCV001718325] | benign | 12 | 13616791 | 13616791 | Human | | name |
| 150504798 | CV1286029 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-200G>T | not provided [RCV001719452] | benign | 12 | 13572164 | 13572164 | Human | | name |
| 8653743 | CV130318 | single nucleotide variant | NM_000834.3(GRIN2B):c.1781-732C>A | Lung cancer [RCV000110805] | uncertain significance | 12 | 13609564 | 13609564 | Human | | name |
| 8653748 | CV130323 | single nucleotide variant | NM_000834.3(GRIN2B):c.-19+4996G>T | Lung cancer [RCV000110810] | uncertain significance | 12 | 13974932 | 13974932 | Human | | name |
| 14743008 | CV665566 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+224A>C | not provided [RCV000841770] | benign | 12 | 13569606 | 13569606 | Human | | name |
| 14743006 | CV665567 | single nucleotide variant | NM_000834.5(GRIN2B):c.2359+129A>G | not provided [RCV000841769] | benign | 12 | 13569701 | 13569701 | Human | | name |
| 14711166 | CV665571 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-299T>C | not provided [RCV000827948] | benign | 12 | 13570316 | 13570316 | Human | | name |
| 14743013 | CV665584 | single nucleotide variant | NM_000834.5(GRIN2B):c.2011-197T>C | not provided [RCV000841774] | likely benign | 12 | 13572161 | 13572161 | Human | | name |
| 14729911 | CV666226 | single nucleotide variant | NM_000834.5(GRIN2B):c.2360-225T>C | not provided [RCV000835435] | benign | 12 | 13567488 | 13567488 | Human | | name |
| 14742735 | CV666625 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172-176A>G | not provided [RCV000841592] | benign | 12 | 13570193 | 13570193 | Human | | name |
| 127331000 | CV1122478 | microsatellite | NM_000834.5(GRIN2B):c.2011-11TC[2] | Intellectual disability, autosomal dominant 6 [RCV001471277] | likely benign | 12 | 13571968 | 13571971 | Human | | name |
| 8653742 | CV130317 | single nucleotide variant | NM_000834.3(GRIN2B):c.2011-5031C>T | Lung cancer [RCV000110804] | uncertain significance | 12 | 13576995 | 13576995 | Human | | name |
| 8653745 | CV130320 | single nucleotide variant | NM_000834.3(GRIN2B):c.-18-28115C>A | Lung cancer [RCV000110807] | uncertain significance | 12 | 13894341 | 13894341 | Human | | name |
| 8653746 | CV130321 | single nucleotide variant | NM_000834.3(GRIN2B):c.-18-54077C>T | Lung cancer [RCV000110808] | uncertain significance | 12 | 13920303 | 13920303 | Human | | name |
| 8653747 | CV130322 | single nucleotide variant | NM_000834.3(GRIN2B):c.-19+40511C>A | Lung cancer [RCV000110809] | uncertain significance | 12 | 13939417 | 13939417 | Human | | name |
| 152136353 | CV1555382 | microsatellite | NM_000834.5(GRIN2B):c.2011-11TC[3] | Intellectual disability, autosomal dominant 6 [RCV002119757] | likely benign | 12 | 13571968 | 13571969 | Human | | name |
| 405016980 | CV3094071 | microsatellite | NM_000834.5(GRIN2B):c.1500+10CA[4] | Intellectual disability, autosomal dominant 6 [RCV003784921] | likely benign | 12 | 13615479 | 13615480 | Human | | name |
| 11647492 | CV331227 | deletion | NM_000834.5(GRIN2B):c.*110_*113del | Intellectual Disability, Dominant [RCV000276632] | uncertain significance | 12 | 13562670 | 13562673 | Human | 1 | name |
| 150496335 | CV1283254 | microsatellite | NM_000834.5(GRIN2B):c.1781-161GA[2] | not provided [RCV001717607] | benign | 12 | 13608988 | 13608989 | Human | | name |
| 155266087 | CV1704952 | single nucleotide variant | NM_000834.5(GRIN2B):c.1010+13168T>C | Intellectual disability, autosomal dominant 6 [RCV002285250] | uncertain significance | 12 | 13740149 | 13740149 | Human | 1 | name |
| 127327720 | CV1122488 | single nucleotide variant | NM_000834.5(GRIN2B):c.9C>T (p.Pro3=) | Inborn genetic diseases [RCV002384754]|Intellectual disability, autosomal dominant 6 [RCV001469208]|not specified [RCV004782745] | likely benign | 12 | 13866200 | 13866200 | Human | 2 | name |
| 405176352 | CV3101154 | duplication | NM_000834.5(GRIN2B):c.2352_2359+2dup | Intellectual disability, autosomal dominant 6 [RCV003803541] | pathogenic | 12 | 13569827 | 13569828 | Human | 1 | name |
| 405289568 | CV3221973 | duplication | NM_000834.5(GRIN2B):c.2011-2_2021dup | Intellectual disability, autosomal dominant 6 [RCV003983753] | pathogenic | 12 | 13571953 | 13571954 | Human | 1 | name |
| 15180095 | CV769031 | single nucleotide variant | NM_000834.5(GRIN2B):c.6G>A (p.Lys2=) | not provided [RCV000929800] | likely benign | 12 | 13866203 | 13866203 | Human | | name |
| 21072340 | CV791218 | duplication | NM_000834.5(GRIN2B):c.2011-2_2038dup | Intellectual disability, autosomal dominant 6 [RCV000988790] | likely pathogenic | 12 | 13571936 | 13571937 | Human | 1 | name |
| 8644928 | CV104335 | single nucleotide variant | NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) | Inborn genetic diseases [RCV002311753]|Intellectual disability, autosomal dominant 6 [RCV001517579]|not provided [RCV000084733]|not specified [RCV000117190] | benign|likely benign|conflicting interpretations of pathogenicity|not provided | 12 | 13866194 | 13866194 | Human | 2 | name |
| 127307178 | CV1143344 | single nucleotide variant | NM_000834.5(GRIN2B):c.15G>T (p.Ala5=) | Intellectual disability, autosomal dominant 6 [RCV001480255] | likely benign | 12 | 13866194 | 13866194 | Human | 1 | name |
| 15135433 | CV753264 | single nucleotide variant | NM_000834.5(GRIN2B):c.21C>T (p.Cys7=) | Intellectual disability, autosomal dominant 6 [RCV000920850] | likely benign | 12 | 13866188 | 13866188 | Human | 1 | name |
| 40887345 | CV973834 | deletion | NM_000834.5(GRIN2B):c.2011-32_2014del | Inborn genetic diseases [RCV001266883] | pathogenic | 12 | 13571961 | 13571996 | Human | 1 | name |
| 126914894 | CV1047825 | single nucleotide variant | NM_000834.5(GRIN2B):c.5A>C (p.Lys2Thr) | Intellectual disability, autosomal dominant 6 [RCV001359697] | uncertain significance | 12 | 13866204 | 13866204 | Human | 1 | name |
| 151717630 | CV1495527 | deletion | NM_000834.5(GRIN2B):c.2360-9_2360-4del | Intellectual disability, autosomal dominant 6 [RCV002026836] | likely benign|uncertain significance | 12 | 13567267 | 13567272 | Human | 1 | name |
| 152098194 | CV1542382 | single nucleotide variant | NM_000834.5(GRIN2B):c.40T>C (p.Leu14=) | Intellectual disability, autosomal dominant 6 [RCV002195197] | likely benign | 12 | 13866169 | 13866169 | Human | 1 | name |
| 152108653 | CV1548093 | single nucleotide variant | NM_000834.5(GRIN2B):c.96C>T (p.Pro32=) | Intellectual disability, autosomal dominant 6 [RCV002174047] | likely benign | 12 | 13866113 | 13866113 | Human | 1 | name |
| 152033022 | CV1657683 | single nucleotide variant | NM_000834.5(GRIN2B):c.93C>T (p.Ser31=) | Intellectual disability, autosomal dominant 6 [RCV002187008] | likely benign | 12 | 13866116 | 13866116 | Human | 1 | name |
| 156446565 | CV1947910 | single nucleotide variant | NM_000834.5(GRIN2B):c.72C>T (p.Ser24=) | Intellectual disability, autosomal dominant 6 [RCV003118074] | likely benign | 12 | 13866137 | 13866137 | Human | 1 | name |
| 155941353 | CV2119873 | single nucleotide variant | NM_000834.5(GRIN2B):c.90G>A (p.Lys30=) | Intellectual disability, autosomal dominant 6 [RCV002971305] | likely benign | 12 | 13866119 | 13866119 | Human | 1 | name |
| 11523965 | CV244815 | single nucleotide variant | NM_000834.5(GRIN2B):c.99C>A (p.Pro33=) | Inborn genetic diseases [RCV002379037]|Intellectual disability, autosomal dominant 6 [RCV000919117]|not provided [RCV001722271] | likely benign | 12 | 13866110 | 13866110 | Human | 2 | name |
| 405062230 | CV3108430 | single nucleotide variant | NM_000834.5(GRIN2B):c.66A>G (p.Ser22=) | Intellectual disability, autosomal dominant 6 [RCV003809008] | likely benign | 12 | 13866143 | 13866143 | Human | 1 | name |
| 11599397 | CV323865 | single nucleotide variant | NM_000834.5(GRIN2B):c.33G>A (p.Lys11=) | Intellectual disability, autosomal dominant 6 [RCV001466832] | likely benign|uncertain significance | 12 | 13866176 | 13866176 | Human | 1 | name |
| 12842211 | CV372153 | single nucleotide variant | NM_000834.5(GRIN2B):c.96C>A (p.Pro32=) | Inborn genetic diseases [RCV002374675]|Intellectual disability, autosomal dominant 6 [RCV001432168]|not specified [RCV000433998] | likely benign | 12 | 13866113 | 13866113 | Human | 2 | name |
| 597880720 | CV3868379 | single nucleotide variant | NM_000834.5(GRIN2B):c.69C>G (p.Gly23=) | Intellectual disability, autosomal dominant 6 [RCV005217279] | likely benign | 12 | 13866140 | 13866140 | Human | 1 | name |
| 13490663 | CV462059 | single nucleotide variant | NM_000834.5(GRIN2B):c.45G>A (p.Val15=) | Intellectual disability, autosomal dominant 6 [RCV001079032]|not provided [RCV000533669] | benign|likely benign | 12 | 13866164 | 13866164 | Human | 1 | name |
| 13539296 | CV504020 | single nucleotide variant | NM_000834.5(GRIN2B):c.60C>T (p.Ala20=) | Inborn genetic diseases [RCV002358722]|Intellectual disability, autosomal dominant 6 [RCV001437127]|not specified [RCV000613090] | benign|likely benign | 12 | 13866149 | 13866149 | Human | 2 | name |
| 13537138 | CV504727 | single nucleotide variant | NM_000834.5(GRIN2B):c.51C>T (p.Ala17=) | Inborn genetic diseases [RCV002341547]|Intellectual disability, autosomal dominant 6 [RCV001416078]|not provided [RCV001200578]|not specified [RCV000609982] | likely benign | 12 | 13866158 | 13866158 | Human | 2 | name |
| 15201506 | CV769030 | single nucleotide variant | NM_000834.5(GRIN2B):c.66A>T (p.Ser22=) | Intellectual disability, autosomal dominant 6 [RCV001411356] | likely benign | 12 | 13866143 | 13866143 | Human | 1 | name |
| 38460655 | CV919421 | single nucleotide variant | NM_000834.5(GRIN2B):c.7C>T (p.Pro3Ser) | Intellectual disability, autosomal dominant 6 [RCV001196777] | uncertain significance | 12 | 13866202 | 13866202 | Human | 1 | name |
| 8644929 | CV104336 | single nucleotide variant | NM_000834.5(GRIN2B):c.14C>T (p.Ala5Val) | Intellectual disability, autosomal dominant 6 [RCV001307330]|not provided [RCV000084734] | benign|uncertain significance|not provided | 12 | 13866195 | 13866195 | Human | 1 | name |
| 127234254 | CV1079282 | single nucleotide variant | NM_000834.5(GRIN2B):c.228C>A (p.Thr76=) | Intellectual disability, autosomal dominant 6 [RCV001414174] | likely benign | 12 | 13865981 | 13865981 | Human | 1 | name |
| 127254130 | CV1101037 | single nucleotide variant | NM_000834.5(GRIN2B):c.282C>A (p.Ile94=) | Inborn genetic diseases [RCV002439023]|Intellectual disability, autosomal dominant 6 [RCV001437149]|not provided [RCV003394051] | likely benign | 12 | 13865927 | 13865927 | Human | 2 | name |
| 8691258 | CV141218 | single nucleotide variant | NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) | Inborn genetic diseases [RCV002312883]|Intellectual disability, autosomal dominant 6 [RCV000604796]|Intellectual disability, autosomal dominant 6 [RCV001079626]|not provided [RCV000476684]|not specified [RCV000125319] | benign|likely benign | 12 | 13865981 | 13865981 | Human | 2 | name |
| 152092508 | CV1530942 | single nucleotide variant | NM_000834.5(GRIN2B):c.294G>A (p.Val98=) | Intellectual disability, autosomal dominant 6 [RCV002114267] | likely benign | 12 | 13865915 | 13865915 | Human | 1 | name |
| 152117027 | CV1541074 | single nucleotide variant | NM_000834.5(GRIN2B):c.246C>T (p.Ile82=) | Intellectual disability, autosomal dominant 6 [RCV002197528] | likely benign | 12 | 13865963 | 13865963 | Human | 1 | name |
| 152138640 | CV1563548 | single nucleotide variant | NM_000834.5(GRIN2B):c.123C>T (p.Leu41=) | Intellectual disability, autosomal dominant 6 [RCV002200286] | likely benign | 12 | 13866086 | 13866086 | Human | 1 | name |
| 152108919 | CV1643741 | duplication | NM_000834.5(GRIN2B):c.1125+6_1125+10dup | Intellectual disability, autosomal dominant 6 [RCV002096572] | likely benign | 12 | 13675734 | 13675735 | Human | 1 | name |
| 152090537 | CV1661882 | single nucleotide variant | NM_000834.5(GRIN2B):c.270T>C (p.Ser90=) | Intellectual disability, autosomal dominant 6 [RCV002131988] | benign | 12 | 13865939 | 13865939 | Human | 1 | name |
| 155731097 | CV1825892 | deletion | NM_000834.5(GRIN2B):c.99del (p.Ser34fs) | Inborn genetic diseases [RCV002383109] | pathogenic | 12 | 13866110 | 13866110 | Human | 1 | name |
| 156298239 | CV2005613 | single nucleotide variant | NM_000834.5(GRIN2B):c.264C>T (p.Leu88=) | Intellectual disability, autosomal dominant 6 [RCV002671041] | likely benign | 12 | 13865945 | 13865945 | Human | 1 | name |
| 10396102 | CV202676 | single nucleotide variant | NM_000834.5(GRIN2B):c.291G>A (p.Val97=) | GRIN2B-related disorder [RCV004734830]|Inborn genetic diseases [RCV002311271]|Intellectual disability, autosomal dominant 6 [RCV000655331]|not specified [RCV000187687] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 13865918 | 13865918 | Human | 2 | name , alternate_id |
| 156007990 | CV2042541 | single nucleotide variant | NM_000834.5(GRIN2B):c.25T>C (p.Ser9Pro) | Intellectual disability, autosomal dominant 6 [RCV002794942] | uncertain significance | 12 | 13866184 | 13866184 | Human | 1 | name |
| 156377131 | CV2050549 | single nucleotide variant | NM_000834.5(GRIN2B):c.199C>A (p.Arg67=) | Intellectual disability, autosomal dominant 6 [RCV002814786] | likely benign | 12 | 13866010 | 13866010 | Human | 1 | name |
| 156280474 | CV2074739 | single nucleotide variant | NM_000834.5(GRIN2B):c.291G>T (p.Val97=) | Intellectual disability, autosomal dominant 6 [RCV002856364] | likely benign | 12 | 13865918 | 13865918 | Human | 1 | name |
| 155967921 | CV2082887 | single nucleotide variant | NM_000834.5(GRIN2B):c.246C>A (p.Ile82=) | Intellectual disability, autosomal dominant 6 [RCV002881345] | likely benign | 12 | 13865963 | 13865963 | Human | 1 | name |
| 156081520 | CV2083704 | single nucleotide variant | NM_000834.5(GRIN2B):c.216C>A (p.Ala72=) | Intellectual disability, autosomal dominant 6 [RCV002847401] | likely benign | 12 | 13865993 | 13865993 | Human | 1 | name |
| 402524435 | CV3086757 | single nucleotide variant | NM_000834.5(GRIN2B):c.23G>A (p.Cys8Tyr) | Intellectual disability, autosomal dominant 6 [RCV003781375] | uncertain significance | 12 | 13866186 | 13866186 | Human | 1 | name |
| 404984785 | CV3087305 | single nucleotide variant | NM_000834.5(GRIN2B):c.273C>T (p.Asp91=) | Intellectual disability, autosomal dominant 6 [RCV003781768] | likely benign | 12 | 13865936 | 13865936 | Human | 1 | name |
| 405022050 | CV3101381 | single nucleotide variant | NM_000834.5(GRIN2B):c.180C>T (p.His60=) | Intellectual disability, autosomal dominant 6 [RCV003805960] | likely benign | 12 | 13866029 | 13866029 | Human | 1 | name |
| 405066151 | CV3103382 | single nucleotide variant | NM_000834.5(GRIN2B):c.17A>C (p.Glu6Ala) | Intellectual disability, autosomal dominant 6 [RCV003799212] | uncertain significance | 12 | 13866192 | 13866192 | Human | 1 | name |
| 405292620 | CV3192948 | single nucleotide variant | NM_000834.5(GRIN2B):c.216C>T (p.Ala72=) | GRIN2B-related disorder [RCV004540969]|not specified [RCV004526286] | likely benign | 12 | 13865993 | 13865993 | Human | 1 | name , alternate_id |
| 11610184 | CV323860 | single nucleotide variant | NM_000834.5(GRIN2B):c.189C>T (p.Ser63=) | Intellectual disability, autosomal dominant 6 [RCV001413977]|not provided [RCV000585247]|not specified [RCV000609140] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13866020 | 13866020 | Human | 1 | name |
| 12846579 | CV374880 | single nucleotide variant | NM_000834.5(GRIN2B):c.153G>A (p.Lys51=) | Intellectual disability, autosomal dominant 6 [RCV003766308]|not provided [RCV001720264] | likely benign | 12 | 13866056 | 13866056 | Human | 1 | name |
| 597861511 | CV3865355 | single nucleotide variant | NM_000834.5(GRIN2B):c.135C>T (p.Ser45=) | Intellectual disability, autosomal dominant 6 [RCV005214249] | likely benign | 12 | 13866074 | 13866074 | Human | 1 | name |
| 598227171 | CV3894471 | single nucleotide variant | NM_000834.5(GRIN2B):c.288G>A (p.Gly96=) | not provided [RCV005257714] | likely benign | 12 | 13865921 | 13865921 | Human | | name |
| 12888151 | CV398880 | single nucleotide variant | NM_000834.5(GRIN2B):c.144G>A (p.Val48=) | Intellectual disability, autosomal dominant 6 [RCV001440317] | likely benign | 12 | 13866065 | 13866065 | Human | 1 | name |
| 12882838 | CV399346 | single nucleotide variant | NM_000834.5(GRIN2B):c.23G>C (p.Cys8Ser) | Intellectual disability, autosomal dominant 6 [RCV000460411] | uncertain significance | 12 | 13866186 | 13866186 | Human | 1 | name |
| 12913208 | CV421913 | duplication | NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) | Intellectual disability [RCV001260648]|Intellectual disability, autosomal dominant 6 [RCV000032861]|not provided [RCV000493526] | pathogenic|likely pathogenic | 12 | 13866109 | 13866110 | Human | 3 | name |
| 13494308 | CV462057 | single nucleotide variant | NM_000834.5(GRIN2B):c.174T>C (p.Asp58=) | Intellectual disability, autosomal dominant 6 [RCV000536319] | likely benign | 12 | 13866035 | 13866035 | Human | 1 | name |
| 13626760 | CV527244 | single nucleotide variant | NM_000834.5(GRIN2B):c.138C>T (p.Asp46=) | Intellectual disability, autosomal dominant 6 [RCV000655327]|not provided [RCV003392503] | likely benign | 12 | 13866071 | 13866071 | Human | 1 | name |
| 15105408 | CV784348 | single nucleotide variant | NM_000834.5(GRIN2B):c.162C>T (p.His54=) | Intellectual disability, autosomal dominant 6 [RCV001422555] | likely benign | 12 | 13866047 | 13866047 | Human | 1 | name |
| 26897862 | CV822066 | single nucleotide variant | NM_000834.5(GRIN2B):c.274C>A (p.Arg92=) | Intellectual disability, autosomal dominant 6 [RCV001034340] | benign | 12 | 13865935 | 13865935 | Human | 1 | name |
| 26897730 | CV822067 | single nucleotide variant | NM_000834.5(GRIN2B):c.189C>A (p.Ser63=) | Intellectual disability, autosomal dominant 6 [RCV001034293] | benign | 12 | 13866020 | 13866020 | Human | 1 | name |
| 38457342 | CV920314 | deletion | NM_000834.5(GRIN2B):c.2011-18_2011-3del | Intellectual disability, autosomal dominant 6 [RCV001198637] | uncertain significance | 12 | 13571967 | 13571982 | Human | 1 | name |
| 126734384 | CV1000780 | single nucleotide variant | NM_000834.5(GRIN2B):c.465C>T (p.Ser155=) | Intellectual disability, autosomal dominant 6 [RCV001496161]|not provided [RCV001311292] | likely benign | 12 | 13753862 | 13753862 | Human | 1 | name |
| 126734388 | CV1000781 | single nucleotide variant | NM_000834.5(GRIN2B):c.351A>G (p.Ala117=) | not provided [RCV001311293] | likely benign | 12 | 13865858 | 13865858 | Human | | name |
| 8644927 | CV104334 | single nucleotide variant | NM_000834.5(GRIN2B):c.465C>A (p.Ser155=) | Inborn genetic diseases [RCV002326805]|Intellectual disability, autosomal dominant 6 [RCV001080498]|not provided [RCV000084732]|not specified [RCV000186632] | benign|likely benign|not provided | 12 | 13753862 | 13753862 | Human | 2 | name |
| 126917802 | CV1047824 | single nucleotide variant | NM_000834.5(GRIN2B):c.94C>T (p.Pro32Ser) | Intellectual disability, autosomal dominant 6 [RCV001372285] | uncertain significance | 12 | 13866115 | 13866115 | Human | 1 | name |
| 127246645 | CV1079279 | single nucleotide variant | NM_000834.5(GRIN2B):c.951C>T (p.Pro317=) | Intellectual disability, autosomal dominant 6 [RCV001416776] | likely benign | 12 | 13753376 | 13753376 | Human | 1 | name |
| 127259140 | CV1079280 | single nucleotide variant | NM_000834.5(GRIN2B):c.840A>G (p.Val280=) | Intellectual disability, autosomal dominant 6 [RCV001401848] | likely benign | 12 | 13753487 | 13753487 | Human | 1 | name |
| 127283598 | CV1079281 | single nucleotide variant | NM_000834.5(GRIN2B):c.609C>T (p.Leu203=) | Inborn genetic diseases [RCV004980450]|Intellectual disability, autosomal dominant 6 [RCV001411915] | likely benign | 12 | 13753718 | 13753718 | Human | 2 | name |
| 127262006 | CV1101034 | single nucleotide variant | NM_000834.5(GRIN2B):c.822C>T (p.Pro274=) | Intellectual disability, autosomal dominant 6 [RCV001438848] | likely benign | 12 | 13753505 | 13753505 | Human | 1 | name |
| 127259650 | CV1101035 | single nucleotide variant | NM_000834.5(GRIN2B):c.423C>T (p.Ser141=) | Intellectual disability, autosomal dominant 6 [RCV001438394] | likely benign | 12 | 13753904 | 13753904 | Human | 1 | name |
| 127268267 | CV1101036 | single nucleotide variant | NM_000834.5(GRIN2B):c.360C>T (p.Leu120=) | Inborn genetic diseases [RCV002456732]|Intellectual disability, autosomal dominant 6 [RCV001440728]|not provided [RCV001692382] | benign|likely benign | 12 | 13865849 | 13865849 | Human | 2 | name |
| 127316772 | CV1122483 | single nucleotide variant | NM_000834.5(GRIN2B):c.981G>A (p.Lys327=) | Intellectual disability, autosomal dominant 6 [RCV001465628] | likely benign | 12 | 13753346 | 13753346 | Human | 1 | name |
| 127316872 | CV1122484 | single nucleotide variant | NM_000834.5(GRIN2B):c.942C>T (p.Ile314=) | Intellectual disability, autosomal dominant 6 [RCV001465656] | likely benign | 12 | 13753385 | 13753385 | Human | 1 | name |
| 127331265 | CV1122486 | single nucleotide variant | NM_000834.5(GRIN2B):c.807G>A (p.Val269=) | GRIN2B-related disorder [RCV004734205]|Intellectual disability, autosomal dominant 6 [RCV001471416] | likely benign | 12 | 13753520 | 13753520 | Human | 1 | name , alternate_id |
| 127291957 | CV1143342 | single nucleotide variant | NM_000834.5(GRIN2B):c.963T>C (p.Cys321=) | Intellectual disability, autosomal dominant 6 [RCV001496402] | likely benign | 12 | 13753364 | 13753364 | Human | 1 | name |
| 127335722 | CV1143343 | single nucleotide variant | NM_000834.5(GRIN2B):c.717C>T (p.Tyr239=) | Intellectual disability, autosomal dominant 6 [RCV001491687] | likely benign | 12 | 13753610 | 13753610 | Human | 1 | name |
| 150333141 | CV1169511 | single nucleotide variant | NM_000834.5(GRIN2B):c.370C>T (p.Leu124=) | Intellectual disability, autosomal dominant 6 [RCV002568234]|not provided [RCV001537181] | likely benign | 12 | 13865839 | 13865839 | Human | 1 | name |
| 150486268 | CV1203271 | single nucleotide variant | NM_000834.5(GRIN2B):c.366C>A (p.Pro122=) | Intellectual disability, autosomal dominant 6 [RCV002070419]|not provided [RCV001591449] | likely benign | 12 | 13865843 | 13865843 | Human | 1 | name |
| 150435838 | CV1246517 | single nucleotide variant | NM_000834.5(GRIN2B):c.813G>A (p.Ala271=) | Intellectual disability, autosomal dominant 6 [RCV002073111]|not specified [RCV001665516] | likely benign | 12 | 13753514 | 13753514 | Human | 1 | name |
| 8659696 | CV134651 | single nucleotide variant | NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) | Developmental and epileptic encephalopathy, 27 [RCV001701509]|Inborn genetic diseases [RCV002312132]|Intellectual disability, autosomal dominant 6 [RCV001519995]|Intellectual disability, autosomal dominant 6 [RCV001701755]|not provided [RCV004706530]|not specified [RCV000117198] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 13865843 | 13865843 | Human | 3 | name |
| 8659697 | CV134652 | single nucleotide variant | NM_000834.5(GRIN2B):c.381C>T (p.His127=) | Intellectual disability, autosomal dominant 6 [RCV001083068]|not provided [RCV000117199] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13865828 | 13865828 | Human | 1 | name |
| 8659698 | CV134653 | single nucleotide variant | NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) | Inborn genetic diseases [RCV002312133]|Intellectual disability, autosomal dominant 6 [RCV000462623]|not provided [RCV004706531]|not specified [RCV000117202] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 13753823 | 13753823 | Human | 2 | name |
| 8659699 | CV134654 | single nucleotide variant | NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) | Inborn genetic diseases [RCV002312134]|Intellectual disability, autosomal dominant 6 [RCV000477521]|not provided [RCV004707961]|not specified [RCV000117203] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 13753457 | 13753457 | Human | 2 | name |
| 151780209 | CV1409620 | single nucleotide variant | NM_000834.5(GRIN2B):c.76G>A (p.Ala26Thr) | Intellectual disability, autosomal dominant 6 [RCV001882144] | benign|uncertain significance | 12 | 13866133 | 13866133 | Human | 1 | name |
| 151822232 | CV1462172 | single nucleotide variant | NM_000834.5(GRIN2B):c.75A>C (p.Arg25Ser) | Intellectual disability, autosomal dominant 6 [RCV001966555] | uncertain significance | 12 | 13866134 | 13866134 | Human | 1 | name |
| 152159234 | CV1522592 | single nucleotide variant | NM_000834.5(GRIN2B):c.741A>G (p.Val247=) | Intellectual disability, autosomal dominant 6 [RCV002140629] | likely benign | 12 | 13753586 | 13753586 | Human | 1 | name |
| 152169468 | CV1529224 | duplication | NM_000834.5(GRIN2B):c.2359+12_2359+15dup | Intellectual disability, autosomal dominant 6 [RCV002161456] | likely benign | 12 | 13569814 | 13569815 | Human | 1 | name |
| 152144062 | CV1538519 | single nucleotide variant | NM_000834.5(GRIN2B):c.846T>C (p.Tyr282=) | Intellectual disability, autosomal dominant 6 [RCV002219766]|not provided [RCV003395379] | likely benign | 12 | 13753481 | 13753481 | Human | 1 | name |
| 152089438 | CV1541586 | single nucleotide variant | NM_000834.5(GRIN2B):c.429C>T (p.Phe143=) | Intellectual disability, autosomal dominant 6 [RCV002171633] | likely benign | 12 | 13753898 | 13753898 | Human | 1 | name |
| 152163945 | CV1560320 | single nucleotide variant | NM_000834.5(GRIN2B):c.384G>C (p.Gly128=) | Intellectual disability, autosomal dominant 6 [RCV002160148] | likely benign | 12 | 13865825 | 13865825 | Human | 1 | name |
| 152127832 | CV1572148 | deletion | NM_000834.5(GRIN2B):c.2011-20_2011-11del | Intellectual disability, autosomal dominant 6 [RCV002217652] | likely benign | 12 | 13571975 | 13571984 | Human | 1 | name |
| 152046965 | CV1580136 | single nucleotide variant | NM_000834.5(GRIN2B):c.612A>G (p.Leu204=) | Intellectual disability, autosomal dominant 6 [RCV002166386] | likely benign | 12 | 13753715 | 13753715 | Human | 1 | name |
| 152149056 | CV1616697 | single nucleotide variant | NM_000834.5(GRIN2B):c.957C>T (p.Ser319=) | Intellectual disability, autosomal dominant 6 [RCV002201683] | likely benign | 12 | 13753370 | 13753370 | Human | 1 | name |
| 152139716 | CV1638292 | single nucleotide variant | NM_000834.5(GRIN2B):c.672A>G (p.Gln224=) | Intellectual disability, autosomal dominant 6 [RCV002177895] | likely benign | 12 | 13753655 | 13753655 | Human | 1 | name |
| 152121071 | CV1641239 | single nucleotide variant | NM_000834.5(GRIN2B):c.610C>T (p.Leu204=) | Intellectual disability, autosomal dominant 6 [RCV002198059] | likely benign | 12 | 13753717 | 13753717 | Human | 1 | name |
| 153349476 | CV1693399 | single nucleotide variant | NM_000834.5(GRIN2B):c.29C>A (p.Pro10His) | not provided [RCV002275881] | uncertain significance | 12 | 13866180 | 13866180 | Human | | name |
| 153349562 | CV1693581 | single nucleotide variant | NM_000834.5(GRIN2B):c.447A>T (p.Ser149=) | not provided [RCV002275978] | likely benign | 12 | 13753880 | 13753880 | Human | | name |
| 156044539 | CV1914761 | single nucleotide variant | NM_000834.5(GRIN2B):c.537C>T (p.Tyr179=) | Intellectual disability, autosomal dominant 6 [RCV002620388] | likely benign | 12 | 13753790 | 13753790 | Human | 1 | name |
| 156404963 | CV1919123 | single nucleotide variant | NM_000834.5(GRIN2B):c.681C>T (p.Ile227=) | Intellectual disability, autosomal dominant 6 [RCV002585541] | likely benign | 12 | 13753646 | 13753646 | Human | 1 | name |
| 156130651 | CV1977020 | single nucleotide variant | NM_000834.5(GRIN2B):c.627G>A (p.Leu209=) | Intellectual disability, autosomal dominant 6 [RCV002593482] | benign | 12 | 13753700 | 13753700 | Human | 1 | name |
| 156099325 | CV1981171 | single nucleotide variant | NM_000834.5(GRIN2B):c.501C>T (p.Tyr167=) | Intellectual disability, autosomal dominant 6 [RCV002622152] | likely benign | 12 | 13753826 | 13753826 | Human | 1 | name |
| 10396108 | CV202680 | single nucleotide variant | NM_000834.5(GRIN2B):c.61G>A (p.Val21Met) | GRIN2B-related disorder [RCV004537576]|Inborn genetic diseases [RCV002354527]|Intellectual disability, autosomal dominant 6 [RCV000558817]|not provided [RCV001753586] | benign|likely benign|uncertain significance | 12 | 13866148 | 13866148 | Human | 2 | name , alternate_id |
| 10396107 | CV202681 | single nucleotide variant | NM_000834.5(GRIN2B):c.52G>A (p.Val18Ile) | Intellectual disability, autosomal dominant 6 [RCV001059549]|not specified [RCV000187692] | benign|likely benign|uncertain significance | 12 | 13866157 | 13866157 | Human | 1 | name |
| 156021244 | CV2055520 | single nucleotide variant | NM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr) | Intellectual disability, autosomal dominant 6 [RCV002820625]|not provided [RCV003134507] | benign|uncertain significance | 12 | 13866115 | 13866115 | Human | 1 | name |
| 156269767 | CV2097386 | single nucleotide variant | NM_000834.5(GRIN2B):c.603G>A (p.Glu201=) | Intellectual disability, autosomal dominant 6 [RCV002877563] | likely benign | 12 | 13753724 | 13753724 | Human | 1 | name |
| 156275080 | CV2133019 | inversion | NM_000834.5(GRIN2B):c.1126-13_1126-12inv | Intellectual disability, autosomal dominant 6 [RCV003009400] | uncertain significance | 12 | 13616669 | 13616670 | Human | | name |
| 156219410 | CV2172077 | single nucleotide variant | NM_000834.5(GRIN2B):c.615G>A (p.Leu205=) | Intellectual disability, autosomal dominant 6 [RCV003042658] | likely benign | 12 | 13753712 | 13753712 | Human | 1 | name |
| 11091833 | CV231843 | single nucleotide variant | NM_000834.5(GRIN2B):c.876A>G (p.Arg292=) | Intellectual disability, autosomal dominant 6 [RCV003765448]|not provided [RCV000217794] | likely benign|uncertain significance | 12 | 13753451 | 13753451 | Human | 1 | name |
| 243052677 | CV2412809 | single nucleotide variant | NM_000834.5(GRIN2B):c.324C>T (p.Ile108=) | Intellectual disability, autosomal dominant 6 [RCV003778706]|not provided [RCV003131078] | likely benign|uncertain significance | 12 | 13865885 | 13865885 | Human | 1 | name |
| 11523928 | CV244799 | microsatellite | NM_000834.5(GRIN2B):c.2172-20_2172-17del | Intellectual disability, autosomal dominant 6 [RCV003765477]|not specified [RCV000236683] | likely benign | 12 | 13570034 | 13570037 | Human | | name |
| 11523580 | CV244813 | single nucleotide variant | NM_000834.5(GRIN2B):c.327C>G (p.Ala109=) | not provided [RCV004567790]|not specified [RCV000236156] | likely benign | 12 | 13865882 | 13865882 | Human | | name |
| 401905990 | CV2806762 | single nucleotide variant | NM_000834.5(GRIN2B):c.831C>T (p.Leu277=) | not provided [RCV003396255] | likely benign | 12 | 13753496 | 13753496 | Human | | name |
| 401905991 | CV2806763 | single nucleotide variant | NM_000834.5(GRIN2B):c.618C>T (p.Asp206=) | not provided [RCV003396256] | likely benign | 12 | 13753709 | 13753709 | Human | | name |
| 405006334 | CV3082825 | single nucleotide variant | NM_000834.5(GRIN2B):c.711C>T (p.Ala237=) | Intellectual disability, autosomal dominant 6 [RCV003783926] | likely benign | 12 | 13753616 | 13753616 | Human | 1 | name |
| 404998596 | CV3084821 | single nucleotide variant | NM_000834.5(GRIN2B):c.675C>T (p.Ser225=) | Intellectual disability, autosomal dominant 6 [RCV003793494] | likely benign | 12 | 13753652 | 13753652 | Human | 1 | name |
| 402506539 | CV3090380 | duplication | NM_000834.5(GRIN2B):c.2011-20_2011-17dup | Intellectual disability, autosomal dominant 6 [RCV003789149] | likely benign | 12 | 13571980 | 13571981 | Human | 1 | name |
| 402495644 | CV3092435 | deletion | NM_000834.5(GRIN2B):c.2599-17_2599-14del | Intellectual disability, autosomal dominant 6 [RCV003788055] | likely benign | 12 | 13564653 | 13564656 | Human | 1 | name |
| 405017269 | CV3094097 | single nucleotide variant | NM_000834.5(GRIN2B):c.861T>C (p.Tyr287=) | Intellectual disability, autosomal dominant 6 [RCV003784947] | likely benign | 12 | 13753466 | 13753466 | Human | 1 | name |
| 405027989 | CV3094842 | single nucleotide variant | NM_000834.5(GRIN2B):c.495C>T (p.Asp165=) | Intellectual disability, autosomal dominant 6 [RCV003796204] | likely benign | 12 | 13753832 | 13753832 | Human | 1 | name |
| 405030623 | CV3095210 | single nucleotide variant | NM_000834.5(GRIN2B):c.348A>C (p.Ser116=) | Intellectual disability, autosomal dominant 6 [RCV003796416] | likely benign | 12 | 13865861 | 13865861 | Human | 1 | name |
| 405005734 | CV3098477 | single nucleotide variant | NM_000834.5(GRIN2B):c.573G>A (p.Glu191=) | Intellectual disability, autosomal dominant 6 [RCV003804408] | likely benign | 12 | 13753754 | 13753754 | Human | 1 | name |
| 405000647 | CV3099311 | single nucleotide variant | NM_000834.5(GRIN2B):c.324C>A (p.Ile108=) | Intellectual disability, autosomal dominant 6 [RCV003793732] | likely benign | 12 | 13865885 | 13865885 | Human | 1 | name |
| 405069137 | CV3103577 | single nucleotide variant | NM_000834.5(GRIN2B):c.95C>A (p.Pro32His) | Intellectual disability, autosomal dominant 6 [RCV003799407] | uncertain significance | 12 | 13866114 | 13866114 | Human | 1 | name |
| 405094797 | CV3105569 | single nucleotide variant | NM_000834.5(GRIN2B):c.36C>G (p.Phe12Leu) | Intellectual disability, autosomal dominant 6 [RCV003801286] | uncertain significance | 12 | 13866173 | 13866173 | Human | 1 | name |
| 405035924 | CV3106189 | single nucleotide variant | NM_000834.5(GRIN2B):c.414T>C (p.Asp138=) | Intellectual disability, autosomal dominant 6 [RCV003796880] | likely benign | 12 | 13753913 | 13753913 | Human | 1 | name |
| 405010172 | CV3109133 | single nucleotide variant | NM_000834.5(GRIN2B):c.77C>T (p.Ala26Val) | Intellectual disability, autosomal dominant 6 [RCV003804801] | uncertain significance | 12 | 13866132 | 13866132 | Human | 1 | name |
| 405105174 | CV3113176 | single nucleotide variant | NM_000834.5(GRIN2B):c.588C>G (p.Gly196=) | Intellectual disability, autosomal dominant 6 [RCV003812467] | likely benign | 12 | 13753739 | 13753739 | Human | 1 | name |
| 11603837 | CV316416 | single nucleotide variant | NM_000834.5(GRIN2B):c.732C>G (p.Ala244=) | Intellectual disability, autosomal dominant 6 [RCV001437594]|not provided [RCV000465641] | likely benign|uncertain significance | 12 | 13753595 | 13753595 | Human | 1 | name |
| 12791852 | CV362339 | single nucleotide variant | NM_000834.5(GRIN2B):c.43G>A (p.Val15Met) | Epileptic encephalopathy [RCV000416940] | uncertain significance | 12 | 13866166 | 13866166 | Human | 2 | name |
| 12839414 | CV372154 | single nucleotide variant | NM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu) | Inborn genetic diseases [RCV003352865]|Intellectual disability, autosomal dominant 6 [RCV001366305]|not specified [RCV000428768] | benign|likely benign|uncertain significance | 12 | 13866129 | 13866129 | Human | 2 | name |
| 12833533 | CV372872 | single nucleotide variant | NM_000834.5(GRIN2B):c.513C>T (p.Ile171=) | Inborn genetic diseases [RCV002313052]|Intellectual disability, autosomal dominant 6 [RCV000465148]|not provided [RCV001703592] | benign|likely benign | 12 | 13753814 | 13753814 | Human | 2 | name |
| 12833125 | CV373118 | single nucleotide variant | NM_000834.5(GRIN2B):c.540G>A (p.Gln180=) | Intellectual disability, autosomal dominant 6 [RCV001861605]|not specified [RCV000417923] | likely benign|uncertain significance | 12 | 13753787 | 13753787 | Human | 1 | name |
| 597663074 | CV3732397 | single nucleotide variant | NM_000834.5(GRIN2B):c.92G>T (p.Ser31Ile) | not provided [RCV005003866] | uncertain significance | 12 | 13866117 | 13866117 | Human | | name |
| 12833914 | CV374878 | single nucleotide variant | NM_000834.5(GRIN2B):c.630C>T (p.Asp210=) | Intellectual disability, autosomal dominant 6 [RCV001430863]|not provided [RCV000866742] | likely benign | 12 | 13753697 | 13753697 | Human | 1 | name |
| 12847711 | CV374879 | single nucleotide variant | NM_000834.5(GRIN2B):c.444A>G (p.Pro148=) | Intellectual disability, autosomal dominant 6 [RCV001412281]|not specified [RCV000443978] | likely benign | 12 | 13753883 | 13753883 | Human | 1 | name |
| 597891726 | CV3867940 | single nucleotide variant | NM_000834.5(GRIN2B):c.982A>C (p.Arg328=) | Intellectual disability, autosomal dominant 6 [RCV005218968] | likely benign | 12 | 13753345 | 13753345 | Human | 1 | name |
| 597848900 | CV3872891 | single nucleotide variant | NM_000834.5(GRIN2B):c.699C>T (p.Thr233=) | Intellectual disability, autosomal dominant 6 [RCV005212528] | likely benign | 12 | 13753628 | 13753628 | Human | 1 | name |
| 597848908 | CV3872892 | single nucleotide variant | NM_000834.5(GRIN2B):c.595C>T (p.Leu199=) | Intellectual disability, autosomal dominant 6 [RCV005212529] | likely benign | 12 | 13753732 | 13753732 | Human | 1 | name |
| 597897950 | CV3875971 | single nucleotide variant | NM_000834.5(GRIN2B):c.927T>C (p.Ser309=) | Intellectual disability, autosomal dominant 6 [RCV005219861] | likely benign | 12 | 13753400 | 13753400 | Human | 1 | name |
| 597929843 | CV3879263 | single nucleotide variant | NM_000834.5(GRIN2B):c.870C>A (p.Pro290=) | Intellectual disability, autosomal dominant 6 [RCV005224760] | likely benign | 12 | 13753457 | 13753457 | Human | 1 | name |
| 598122291 | CV3884315 | single nucleotide variant | NM_000834.5(GRIN2B):c.729G>C (p.Val243=) | not specified [RCV005237006] | likely benign | 12 | 13753598 | 13753598 | Human | | name |
| 12887665 | CV398874 | single nucleotide variant | NM_000834.5(GRIN2B):c.765G>A (p.Thr255=) | Inborn genetic diseases [RCV002395134]|Intellectual disability, autosomal dominant 6 [RCV000469462] | likely benign | 12 | 13753562 | 13753562 | Human | 2 | name |
| 12889393 | CV399034 | single nucleotide variant | NM_000834.5(GRIN2B):c.336C>T (p.Leu112=) | Inborn genetic diseases [RCV002455898]|Intellectual disability, autosomal dominant 6 [RCV000472676] | likely benign | 12 | 13865873 | 13865873 | Human | 2 | name |
| 12888978 | CV399343 | single nucleotide variant | NM_000834.5(GRIN2B):c.681C>A (p.Ile227=) | GRIN2B-related disorder [RCV004735554]|Intellectual disability, autosomal dominant 6 [RCV000471946] | likely benign | 12 | 13753646 | 13753646 | Human | 1 | name , alternate_id |
| 12899994 | CV408606 | single nucleotide variant | NM_000834.5(GRIN2B):c.36C>A (p.Phe12Leu) | not provided [RCV000481414] | uncertain significance | 12 | 13866173 | 13866173 | Human | | name |
| 13536647 | CV504017 | single nucleotide variant | NM_000834.5(GRIN2B):c.834C>A (p.Ile278=) | Intellectual disability, autosomal dominant 6 [RCV001460785]|not provided [RCV001718979]|not specified [RCV001821741] | benign|likely benign | 12 | 13753493 | 13753493 | Human | 1 | name |
| 13531581 | CV504018 | single nucleotide variant | NM_000834.5(GRIN2B):c.519C>G (p.Thr173=) | Intellectual disability, autosomal dominant 6 [RCV000655344]|not provided [RCV000994860]|not specified [RCV000601097] | likely benign | 12 | 13753808 | 13753808 | Human | 1 | name |
| 13535360 | CV504245 | deletion | NM_000834.5(GRIN2B):c.2011-20_2011-17del | Intellectual disability, autosomal dominant 6 [RCV002063947]|not specified [RCV000602285] | likely benign | 12 | 13571981 | 13571984 | Human | 1 | name |
| 13626778 | CV527242 | single nucleotide variant | NM_000834.5(GRIN2B):c.975C>T (p.His325=) | Inborn genetic diseases [RCV002317903]|Intellectual disability, autosomal dominant 6 [RCV000655337]|not provided [RCV001545907] | likely benign | 12 | 13753352 | 13753352 | Human | 2 | name |
| 13828803 | CV579777 | single nucleotide variant | NM_000834.5(GRIN2B):c.80G>A (p.Arg27His) | Inborn genetic diseases [RCV002316087]|Intellectual disability, autosomal dominant 6 [RCV001034073] | likely benign|uncertain significance | 12 | 13866129 | 13866129 | Human | 2 | name |
| 14729395 | CV641008 | single nucleotide variant | NM_000834.5(GRIN2B):c.92G>C (p.Ser31Thr) | Intellectual disability, autosomal dominant 6 [RCV000800467] | benign|uncertain significance | 12 | 13866117 | 13866117 | Human | 1 | name |
| 14707774 | CV656125 | single nucleotide variant | NM_000834.5(GRIN2B):c.999T>C (p.Asn333=) | not provided [RCV000826940] | likely benign | 12 | 13753328 | 13753328 | Human | | name |
| 15102495 | CV687946 | single nucleotide variant | NM_000834.5(GRIN2B):c.625C>T (p.Leu209=) | Intellectual disability, autosomal dominant 6 [RCV000870469] | likely benign | 12 | 13753702 | 13753702 | Human | 1 | name |
| 15149663 | CV687947 | single nucleotide variant | NM_000834.5(GRIN2B):c.510T>C (p.Ser170=) | Intellectual disability, autosomal dominant 6 [RCV001499149] | likely benign | 12 | 13753817 | 13753817 | Human | 1 | name |
| 15182547 | CV769029 | single nucleotide variant | NM_000834.5(GRIN2B):c.393T>C (p.Ser131=) | Intellectual disability, autosomal dominant 6 [RCV001406472] | likely benign | 12 | 13865816 | 13865816 | Human | 1 | name |
| 21074228 | CV796731 | single nucleotide variant | NM_000834.5(GRIN2B):c.28C>A (p.Pro10Thr) | not provided [RCV000994863] | uncertain significance | 12 | 13866181 | 13866181 | Human | | name |
| 26897759 | CV822068 | single nucleotide variant | NM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu) | Intellectual disability, autosomal dominant 6 [RCV001034304]|not provided [RCV003132145] | benign|uncertain significance | 12 | 13866171 | 13866171 | Human | 1 | name |
| 8627234 | CV82378 | single nucleotide variant | NM_000834.5(GRIN2B):c.771C>T (p.Ile257=) | Inborn genetic diseases [RCV002399423]|Intellectual disability, autosomal dominant 6 [RCV000535002] | benign|likely benign|not provided | 12 | 13753556 | 13753556 | Human | 2 | name |
| 8634594 | CV89814 | single nucleotide variant | NM_000834.3(GRIN2B):c.939C>T (p.Phe313=) | Malignant melanoma [RCV000069911] | not provided | 12 | 13753388 | 13753388 | Human | | name |
| 126749534 | CV995070 | single nucleotide variant | NM_000834.5(GRIN2B):c.843A>G (p.Ser281=) | Intellectual disability, autosomal dominant 6 [RCV001297154] | likely benign|uncertain significance | 12 | 13753484 | 13753484 | Human | 1 | name |
| 126749117 | CV1010297 | single nucleotide variant | NM_000834.5(GRIN2B):c.136G>A (p.Asp46Asn) | Intellectual disability, autosomal dominant 6 [RCV001326469]|not provided [RCV003130270] | uncertain significance | 12 | 13866073 | 13866073 | Human | 1 | name |
| 8644921 | CV104328 | single nucleotide variant | NM_000834.5(GRIN2B):c.2712G>A (p.Thr904=) | Intellectual disability, autosomal dominant 6 [RCV001089066]|not provided [RCV000084726] | likely benign|not provided | 12 | 13564526 | 13564526 | Human | 1 | name |
| 8644922 | CV104329 | single nucleotide variant | NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) | Inborn genetic diseases [RCV002313840]|Intellectual disability, autosomal dominant 6 [RCV001083408]|not provided [RCV000084727]|not specified [RCV000117195] | benign|likely benign|conflicting interpretations of pathogenicity|not provided | 12 | 13564547 | 13564547 | Human | 2 | name |
| 8644923 | CV104330 | single nucleotide variant | NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) | Inborn genetic diseases [RCV002311751]|Intellectual disability, autosomal dominant 6 [RCV001516888]|not provided [RCV000084728]|not specified [RCV000117194] | benign|likely benign|not provided | 12 | 13564574 | 13564574 | Human | 2 | name |
| 8644924 | CV104331 | single nucleotide variant | NM_000834.5(GRIN2B):c.2313G>A (p.Gly771=) | Intellectual disability, autosomal dominant 6 [RCV002055252]|not provided [RCV000084729] | likely benign|not provided | 12 | 13569876 | 13569876 | Human | 1 | name |
| 8644925 | CV104332 | single nucleotide variant | NM_000834.5(GRIN2B):c.1833T>C (p.Gly611=) | Intellectual disability, autosomal dominant 6 [RCV005213206]|not provided [RCV000084730] | likely benign|not provided | 12 | 13608780 | 13608780 | Human | 1 | name |
| 8644926 | CV104333 | single nucleotide variant | NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) | GRIN2B-related disorder [RCV004529881]|Inborn genetic diseases [RCV002311752]|Intellectual disability, autosomal dominant 6 [RCV001083729]|not provided [RCV000084731]|not specified [RCV000117189] | benign|not provided | 12 | 13615652 | 13615652 | Human | 2 | name , alternate_id |
| 126908418 | CV1047820 | single nucleotide variant | NM_000834.5(GRIN2B):c.2313G>T (p.Gly771=) | Intellectual disability, autosomal dominant 6 [RCV001367838] | likely benign|uncertain significance | 12 | 13569876 | 13569876 | Human | 1 | name |
| 127243772 | CV1079261 | single nucleotide variant | NM_000834.5(GRIN2B):c.2937C>T (p.Asn979=) | Intellectual disability, autosomal dominant 6 [RCV001416231] | likely benign | 12 | 13564301 | 13564301 | Human | 1 | name |
| 127281131 | CV1079264 | single nucleotide variant | NM_000834.5(GRIN2B):c.2631C>A (p.Ile877=) | Intellectual disability, autosomal dominant 6 [RCV001410234] | likely benign | 12 | 13564607 | 13564607 | Human | 1 | name |
| 127251700 | CV1079265 | single nucleotide variant | NM_000834.5(GRIN2B):c.2442C>T (p.Asp814=) | Intellectual disability, autosomal dominant 6 [RCV001417855] | likely benign | 12 | 13567181 | 13567181 | Human | 1 | name |
| 127277066 | CV1079266 | single nucleotide variant | NM_000834.5(GRIN2B):c.2259T>C (p.Ser753=) | Intellectual disability, autosomal dominant 6 [RCV001407539] | likely benign | 12 | 13569930 | 13569930 | Human | 1 | name |
| 127247169 | CV1079267 | single nucleotide variant | NM_000834.5(GRIN2B):c.2139T>C (p.Gly713=) | Intellectual disability, autosomal dominant 6 [RCV001399093] | likely benign | 12 | 13571836 | 13571836 | Human | 1 | name |
| 127239280 | CV1079268 | single nucleotide variant | NM_000834.5(GRIN2B):c.2103A>G (p.Glu701=) | Intellectual disability, autosomal dominant 6 [RCV001397510] | likely benign | 12 | 13571872 | 13571872 | Human | 1 | name |
| 127265807 | CV1079269 | single nucleotide variant | NM_000834.5(GRIN2B):c.2040T>C (p.Pro680=) | Intellectual disability, autosomal dominant 6 [RCV001403664]|not provided [RCV001580595] | likely benign | 12 | 13571935 | 13571935 | Human | 1 | name |
| 127277856 | CV1079270 | single nucleotide variant | NM_000834.5(GRIN2B):c.1998G>A (p.Leu666=) | Intellectual disability, autosomal dominant 6 [RCV001408091] | likely benign | 12 | 13608615 | 13608615 | Human | 1 | name |
| 127230623 | CV1079271 | single nucleotide variant | NM_000834.5(GRIN2B):c.1923C>A (p.Ile641=) | Intellectual disability, autosomal dominant 6 [RCV001412562] | likely benign | 12 | 13608690 | 13608690 | Human | 1 | name |
| 127278330 | CV1079272 | single nucleotide variant | NM_000834.5(GRIN2B):c.1797T>A (p.Ser599=) | Intellectual disability, autosomal dominant 6 [RCV001408419] | likely benign | 12 | 13608816 | 13608816 | Human | 1 | name |
| 127239476 | CV1079274 | single nucleotide variant | NM_000834.5(GRIN2B):c.1671C>T (p.Asp557=) | Intellectual disability, autosomal dominant 6 [RCV001415348] | likely benign | 12 | 13611834 | 13611834 | Human | 1 | name |
| 127277834 | CV1079275 | single nucleotide variant | NM_000834.5(GRIN2B):c.1566G>A (p.Val522=) | Intellectual disability, autosomal dominant 6 [RCV001408077] | likely benign | 12 | 13615202 | 13615202 | Human | 1 | name |
| 127235568 | CV1079276 | single nucleotide variant | NM_000834.5(GRIN2B):c.1539C>T (p.Leu513=) | Intellectual disability, autosomal dominant 6 [RCV001391911] | likely benign | 12 | 13615229 | 13615229 | Human | 1 | name |
| 127245680 | CV1079278 | single nucleotide variant | NM_000834.5(GRIN2B):c.1308C>T (p.Cys436=) | Intellectual disability, autosomal dominant 6 [RCV001416549] | likely benign | 12 | 13616475 | 13616475 | Human | 1 | name |
| 127253233 | CV1101027 | single nucleotide variant | NM_000834.5(GRIN2B):c.2826G>T (p.Thr942=) | Intellectual disability, autosomal dominant 6 [RCV001425967]|not provided [RCV004546652] | likely benign | 12 | 13564412 | 13564412 | Human | 1 | name |
| 127278428 | CV1101028 | single nucleotide variant | NM_000834.5(GRIN2B):c.2430C>T (p.Ser810=) | Intellectual disability, autosomal dominant 6 [RCV001445068] | likely benign | 12 | 13567193 | 13567193 | Human | 1 | name |
| 127282817 | CV1101030 | single nucleotide variant | NM_000834.5(GRIN2B):c.1902G>A (p.Val634=) | Intellectual disability, autosomal dominant 6 [RCV001448108] | likely benign | 12 | 13608711 | 13608711 | Human | 1 | name |
| 127244889 | CV1101031 | single nucleotide variant | NM_000834.5(GRIN2B):c.1824G>A (p.Leu608=) | Intellectual disability, autosomal dominant 6 [RCV001435124] | likely benign | 12 | 13608789 | 13608789 | Human | 1 | name |
| 127239696 | CV1101032 | single nucleotide variant | NM_000834.5(GRIN2B):c.1596A>G (p.Thr532=) | Intellectual disability, autosomal dominant 6 [RCV001423171] | likely benign | 12 | 13615172 | 13615172 | Human | 1 | name |
| 127266667 | CV1101033 | single nucleotide variant | NM_000834.5(GRIN2B):c.1302C>T (p.Val434=) | Intellectual disability, autosomal dominant 6 [RCV001440295] | likely benign | 12 | 13616481 | 13616481 | Human | 1 | name |
| 127298362 | CV1122475 | single nucleotide variant | NM_000834.5(GRIN2B):c.2685C>T (p.His895=) | Intellectual disability, autosomal dominant 6 [RCV001460542] | likely benign | 12 | 13564553 | 13564553 | Human | 1 | name |
| 127324077 | CV1122476 | single nucleotide variant | NM_000834.5(GRIN2B):c.2661C>A (p.Pro887=) | Intellectual disability, autosomal dominant 6 [RCV001468109]|not provided [RCV002264337] | likely benign | 12 | 13564577 | 13564577 | Human | 1 | name |
| 127298902 | CV1122481 | single nucleotide variant | NM_000834.5(GRIN2B):c.1581G>A (p.Val527=) | Intellectual disability, autosomal dominant 6 [RCV001460664] | likely benign | 12 | 13615187 | 13615187 | Human | 1 | name |
| 127316981 | CV1122482 | single nucleotide variant | NM_000834.5(GRIN2B):c.1221C>T (p.Ser407=) | Intellectual disability, autosomal dominant 6 [RCV001465692]|not provided [RCV001619908] | benign|likely benign | 12 | 13616562 | 13616562 | Human | 1 | name |
| 127310940 | CV1143338 | single nucleotide variant | NM_000834.5(GRIN2B):c.2790C>G (p.Ser930=) | Intellectual disability, autosomal dominant 6 [RCV001501497] | likely benign | 12 | 13564448 | 13564448 | Human | 1 | name |
| 127312414 | CV1143339 | single nucleotide variant | NM_000834.5(GRIN2B):c.2151A>G (p.Ala717=) | Intellectual disability, autosomal dominant 6 [RCV001501920] | likely benign | 12 | 13571824 | 13571824 | Human | 1 | name |
| 127314485 | CV1143340 | single nucleotide variant | NM_000834.5(GRIN2B):c.2148T>C (p.Asp716=) | Intellectual disability, autosomal dominant 6 [RCV001482229] | likely benign | 12 | 13571827 | 13571827 | Human | 1 | name |
| 127325040 | CV1143341 | single nucleotide variant | NM_000834.5(GRIN2B):c.1377G>T (p.Gly459=) | Intellectual disability, autosomal dominant 6 [RCV001505868] | likely benign | 12 | 13615616 | 13615616 | Human | 1 | name |
| 127321748 | CV1156945 | single nucleotide variant | NM_000834.5(GRIN2B):c.2700C>A (p.Arg900=) | Intellectual disability, autosomal dominant 6 [RCV001523194] | benign | 12 | 13564538 | 13564538 | Human | 1 | name |
| 150335212 | CV1164410 | single nucleotide variant | NM_000834.5(GRIN2B):c.2172G>T (p.Gly724=) | not provided [RCV001530167] | likely benign | 12 | 13570017 | 13570017 | Human | | name |
| 150451960 | CV1276663 | single nucleotide variant | NM_000834.5(GRIN2B):c.1875G>C (p.Gly625=) | Inborn genetic diseases [RCV002414298]|Intellectual disability, autosomal dominant 6 [RCV002073310]|not provided [RCV001708452] | likely benign | 12 | 13608738 | 13608738 | Human | 2 | name |
| 150488471 | CV1284026 | single nucleotide variant | NM_000834.5(GRIN2B):c.2637G>A (p.Glu879=) | Intellectual disability, autosomal dominant 6 [RCV002538661]|not provided [RCV001716108] | likely benign | 12 | 13564601 | 13564601 | Human | 1 | name |
| 150521219 | CV1290973 | single nucleotide variant | NM_000834.5(GRIN2B):c.2910C>T (p.Phe970=) | Inborn genetic diseases [RCV002440847]|Intellectual disability, autosomal dominant 6 [RCV002073972]|not provided [RCV001732586] | likely benign | 12 | 13564328 | 13564328 | Human | 2 | name |
| 150554892 | CV1309642 | single nucleotide variant | NM_000834.5(GRIN2B):c.286G>C (p.Gly96Arg) | Intellectual disability, autosomal dominant 6 [RCV002540721]|not provided [RCV003238686] | uncertain significance | 12 | 13865923 | 13865923 | Human | 1 | name |
| 8659691 | CV134646 | single nucleotide variant | NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) | Developmental and epileptic encephalopathy, 27 [RCV001701602]|Inborn genetic diseases [RCV002312127]|Intellectual disability, autosomal dominant 6 [RCV000615174]|Intellectual disability, autosomal dominant 6 [RCV001517088]|not provided [RCV000711873]|not specified [RCV000117191] | benign|likely benign | 12 | 13611840 | 13611840 | Human | 3 | name |
| 8659692 | CV134647 | single nucleotide variant | NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) | Inborn genetic diseases [RCV002312128]|Intellectual disability, autosomal dominant 6 [RCV001516889]|not provided [RCV004706529]|not specified [RCV000117192] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 13608807 | 13608807 | Human | 2 | name |
| 8659693 | CV134648 | single nucleotide variant | NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) | Inborn genetic diseases [RCV002312129]|Intellectual disability, autosomal dominant 6 [RCV001511161]|not provided [RCV000710141]|not specified [RCV000117193] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 13567109 | 13567109 | Human | 2 | name |
| 151779963 | CV1381325 | single nucleotide variant | NM_000834.5(GRIN2B):c.185T>C (p.Leu62Pro) | Intellectual disability, autosomal dominant 6 [RCV001881711] | uncertain significance | 12 | 13866024 | 13866024 | Human | 1 | name |
| 151775341 | CV1383361 | single nucleotide variant | NM_000834.5(GRIN2B):c.2394T>A (p.Thr798=) | Intellectual disability, autosomal dominant 6 [RCV001874207] | likely benign|uncertain significance | 12 | 13567229 | 13567229 | Human | 1 | name |
| 151824336 | CV1387862 | single nucleotide variant | NM_000834.5(GRIN2B):c.188C>T (p.Ser63Phe) | Intellectual disability, autosomal dominant 6 [RCV001970908] | benign|uncertain significance | 12 | 13866021 | 13866021 | Human | 1 | name |
| 151780083 | CV1390193 | single nucleotide variant | NM_000834.5(GRIN2B):c.274C>T (p.Arg92Trp) | Inborn genetic diseases [RCV002553607]|Intellectual disability, autosomal dominant 6 [RCV001881960] | uncertain significance | 12 | 13865935 | 13865935 | Human | 2 | name |
| 8691261 | CV141221 | single nucleotide variant | NM_000834.5(GRIN2B):c.1338A>G (p.Thr446=) | Inborn genetic diseases [RCV002316374]|Intellectual disability, autosomal dominant 6 [RCV000535546]|not provided [RCV005229947]|not specified [RCV000125325] | benign|likely benign | 12 | 13615655 | 13615655 | Human | 2 | name |
| 8691262 | CV141222 | single nucleotide variant | NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=) | GRIN2B-related disorder [RCV004544255]|Inborn genetic diseases [RCV002316375]|Intellectual disability, autosomal dominant 6 [RCV000862725]|not specified [RCV000125327] | benign|likely benign|uncertain significance | 12 | 13564610 | 13564610 | Human | 2 | name , alternate_id |
| 151712387 | CV1430507 | single nucleotide variant | NM_000834.5(GRIN2B):c.1995C>T (p.Gly665=) | Intellectual disability, autosomal dominant 6 [RCV002006836] | likely benign|uncertain significance | 12 | 13608618 | 13608618 | Human | 1 | name |
| 151780781 | CV1453702 | single nucleotide variant | NM_000834.5(GRIN2B):c.104T>C (p.Ile35Thr) | Intellectual disability, autosomal dominant 6 [RCV001883185]|not provided [RCV002282626] | benign|uncertain significance | 12 | 13866105 | 13866105 | Human | 1 | name |
| 151825755 | CV1503903 | single nucleotide variant | NM_000834.5(GRIN2B):c.1440G>A (p.Leu480=) | Intellectual disability, autosomal dominant 6 [RCV001973663] | likely benign|uncertain significance | 12 | 13615553 | 13615553 | Human | 1 | name |
| 151828397 | CV1515152 | single nucleotide variant | NM_000834.5(GRIN2B):c.187T>C (p.Ser63Pro) | Intellectual disability, autosomal dominant 6 [RCV001978506] | uncertain significance | 12 | 13866022 | 13866022 | Human | 1 | name |
| 152168254 | CV1524864 | single nucleotide variant | NM_000834.5(GRIN2B):c.2152T>C (p.Leu718=) | Intellectual disability, autosomal dominant 6 [RCV002182379] | likely benign | 12 | 13571823 | 13571823 | Human | 1 | name |
| 152111895 | CV1539146 | single nucleotide variant | NM_000834.5(GRIN2B):c.1086G>C (p.Leu362=) | Intellectual disability, autosomal dominant 6 [RCV002080366] | likely benign | 12 | 13675784 | 13675784 | Human | 1 | name |
| 152103245 | CV1548539 | single nucleotide variant | NM_000834.5(GRIN2B):c.1629G>A (p.Gly543=) | Intellectual disability, autosomal dominant 6 [RCV002079260] | likely benign | 12 | 13615139 | 13615139 | Human | 1 | name |
| 152076476 | CV1551470 | single nucleotide variant | NM_000834.5(GRIN2B):c.1167T>C (p.Tyr389=) | Intellectual disability, autosomal dominant 6 [RCV002192476] | likely benign | 12 | 13616616 | 13616616 | Human | 1 | name |
| 152063159 | CV1554277 | single nucleotide variant | NM_000834.5(GRIN2B):c.2730C>T (p.Asn910=) | Intellectual disability, autosomal dominant 6 [RCV002190775] | likely benign | 12 | 13564508 | 13564508 | Human | 1 | name |
| 152088358 | CV1562910 | single nucleotide variant | NM_000834.5(GRIN2B):c.1866C>T (p.Asn622=) | Intellectual disability, autosomal dominant 6 [RCV002113728] | likely benign | 12 | 13608747 | 13608747 | Human | 1 | name |
| 152092129 | CV1567727 | single nucleotide variant | NM_000834.5(GRIN2B):c.2748C>T (p.Gly916=) | Intellectual disability, autosomal dominant 6 [RCV002212871] | likely benign | 12 | 13564490 | 13564490 | Human | 1 | name |
| 152054001 | CV1573439 | single nucleotide variant | NM_000834.5(GRIN2B):c.2913G>C (p.Gly971=) | Intellectual disability, autosomal dominant 6 [RCV002207857] | likely benign | 12 | 13564325 | 13564325 | Human | 1 | name |
| 152137832 | CV1580489 | single nucleotide variant | NM_000834.5(GRIN2B):c.2823C>T (p.Phe941=) | Intellectual disability, autosomal dominant 6 [RCV002156367]|not specified [RCV004801171] | likely benign | 12 | 13564415 | 13564415 | Human | 1 | name |
| 152141724 | CV1583422 | single nucleotide variant | NM_000834.5(GRIN2B):c.1377G>C (p.Gly459=) | Intellectual disability, autosomal dominant 6 [RCV002120465]|See cases [RCV002252769] | likely benign|uncertain significance | 12 | 13615616 | 13615616 | Human | 1 | name |
| 152174560 | CV1591192 | single nucleotide variant | NM_000834.5(GRIN2B):c.1389C>T (p.Asp463=) | Intellectual disability, autosomal dominant 6 [RCV002184553] | likely benign | 12 | 13615604 | 13615604 | Human | 1 | name |
| 152133870 | CV1598594 | single nucleotide variant | NM_000834.5(GRIN2B):c.2796T>C (p.Tyr932=) | Intellectual disability, autosomal dominant 6 [RCV002177163] | likely benign | 12 | 13564442 | 13564442 | Human | 1 | name |
| 152106529 | CV1605157 | single nucleotide variant | NM_000834.5(GRIN2B):c.2655C>T (p.Asn885=) | Intellectual disability, autosomal dominant 6 [RCV002196221] | likely benign | 12 | 13564583 | 13564583 | Human | 1 | name |
| 152176499 | CV1631455 | single nucleotide variant | NM_000834.5(GRIN2B):c.2649A>T (p.Val883=) | Intellectual disability, autosomal dominant 6 [RCV002164644] | likely benign | 12 | 13564589 | 13564589 | Human | 1 | name |
| 152106832 | CV1639084 | single nucleotide variant | NM_000834.5(GRIN2B):c.2625G>T (p.Val875=) | Intellectual disability, autosomal dominant 6 [RCV002152518] | likely benign | 12 | 13564613 | 13564613 | Human | 1 | name |
| 152172551 | CV1641652 | single nucleotide variant | NM_000834.5(GRIN2B):c.2757G>A (p.Gln919=) | Intellectual disability, autosomal dominant 6 [RCV002183877] | likely benign | 12 | 13564481 | 13564481 | Human | 1 | name |
| 152028527 | CV1655277 | single nucleotide variant | NM_000834.5(GRIN2B):c.2898A>G (p.Val966=) | Intellectual disability, autosomal dominant 6 [RCV002105264] | likely benign | 12 | 13564340 | 13564340 | Human | 1 | name |
| 155672524 | CV1774035 | single nucleotide variant | NM_000834.5(GRIN2B):c.104T>A (p.Ile35Asn) | Intellectual disability, autosomal dominant 6 [RCV002297596] | uncertain significance | 12 | 13866105 | 13866105 | Human | 1 | name |
| 155743212 | CV1839316 | single nucleotide variant | NM_000834.5(GRIN2B):c.1836G>A (p.Leu612=) | Inborn genetic diseases [RCV002412735]|Intellectual disability, autosomal dominant 6 [RCV003100880] | likely benign | 12 | 13608777 | 13608777 | Human | 2 | name |
| 155695564 | CV1844658 | single nucleotide variant | NM_000834.5(GRIN2B):c.225G>C (p.Glu75Asp) | Inborn genetic diseases [RCV002443707] | uncertain significance | 12 | 13865984 | 13865984 | Human | 1 | name |
| 155686212 | CV1853400 | single nucleotide variant | NM_000834.5(GRIN2B):c.2790C>T (p.Ser930=) | Inborn genetic diseases [RCV002441415]|Intellectual disability, autosomal dominant 6 [RCV003111549] | likely benign | 12 | 13564448 | 13564448 | Human | 2 | name |
| 155683729 | CV1853588 | single nucleotide variant | NM_000834.5(GRIN2B):c.2946A>G (p.Gln982=) | Inborn genetic diseases [RCV002440219]|Intellectual disability, autosomal dominant 6 [RCV003775421] | likely benign | 12 | 13564292 | 13564292 | Human | 2 | name |
| 155689342 | CV1856475 | single nucleotide variant | NM_000834.5(GRIN2B):c.2976T>C (p.His992=) | Inborn genetic diseases [RCV002442148] | likely benign | 12 | 13564262 | 13564262 | Human | 1 | name |
| 155803555 | CV1858117 | single nucleotide variant | NM_000834.5(GRIN2B):c.253A>G (p.Ile85Val) | Intellectual disability, autosomal dominant 6 [RCV003103125]|not provided [RCV002462426] | likely benign|uncertain significance | 12 | 13865956 | 13865956 | Human | 1 | name |
| 156231836 | CV1885175 | single nucleotide variant | NM_000834.5(GRIN2B):c.2214T>C (p.Tyr738=) | Intellectual disability, autosomal dominant 6 [RCV003085397] | likely benign | 12 | 13569975 | 13569975 | Human | 1 | name |
| 156368885 | CV1904995 | single nucleotide variant | NM_000834.5(GRIN2B):c.2109T>C (p.His703=) | Intellectual disability, autosomal dominant 6 [RCV002582273] | likely benign | 12 | 13571866 | 13571866 | Human | 1 | name |
| 156300156 | CV1929509 | single nucleotide variant | NM_000834.5(GRIN2B):c.1332T>C (p.Asn444=) | Intellectual disability, autosomal dominant 6 [RCV002647598] | likely benign | 12 | 13615661 | 13615661 | Human | 1 | name |
| 156446418 | CV1937954 | single nucleotide variant | NM_000834.5(GRIN2B):c.1839G>C (p.Val613=) | Intellectual disability, autosomal dominant 6 [RCV003117922] | likely benign | 12 | 13608774 | 13608774 | Human | 1 | name |
| 156444920 | CV1948970 | single nucleotide variant | NM_000834.5(GRIN2B):c.2121A>C (p.Gly707=) | Intellectual disability, autosomal dominant 6 [RCV003115854] | likely benign | 12 | 13571854 | 13571854 | Human | 1 | name |
| 10396109 | CV202677 | single nucleotide variant | NM_000834.5(GRIN2B):c.190G>A (p.Val64Met) | Inborn genetic diseases [RCV002408833]|Intellectual disability, autosomal dominant 6 [RCV000524558]|not provided [RCV000994862]|not specified [RCV004998395] | benign|likely benign|uncertain significance | 12 | 13866019 | 13866019 | Human | 2 | name |
| 10396110 | CV202678 | single nucleotide variant | NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly) | Intellectual disability, autosomal dominant 6 [RCV001083356]|not provided [RCV000187695]|not specified [RCV001818452] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13866069 | 13866069 | Human | 1 | name |
| 10397608 | CV202679 | single nucleotide variant | NM_000834.5(GRIN2B):c.125T>C (p.Val42Ala) | not provided [RCV000187715] | uncertain significance | 12 | 13866084 | 13866084 | Human | | name |
| 155996950 | CV2045305 | single nucleotide variant | NM_000834.5(GRIN2B):c.2319G>A (p.Lys773=) | Intellectual disability, autosomal dominant 6 [RCV002756009] | likely benign | 12 | 13569870 | 13569870 | Human | 1 | name |
| 156125389 | CV2046696 | single nucleotide variant | NM_000834.5(GRIN2B):c.1143C>T (p.Asp381=) | Intellectual disability, autosomal dominant 6 [RCV002800396] | likely benign | 12 | 13616640 | 13616640 | Human | 1 | name |
| 156326000 | CV2054130 | single nucleotide variant | NM_000834.5(GRIN2B):c.1128G>A (p.Val376=) | Intellectual disability, autosomal dominant 6 [RCV002810398] | likely benign | 12 | 13616655 | 13616655 | Human | 1 | name |
| 156336806 | CV2057813 | single nucleotide variant | NM_000834.5(GRIN2B):c.182A>G (p.His61Arg) | Intellectual disability, autosomal dominant 6 [RCV002810984] | uncertain significance | 12 | 13866027 | 13866027 | Human | 1 | name |
| 156249520 | CV2060314 | single nucleotide variant | NM_000834.5(GRIN2B):c.1047G>A (p.Leu349=) | Intellectual disability, autosomal dominant 6 [RCV002791643] | likely benign | 12 | 13675823 | 13675823 | Human | 1 | name |
| 156017017 | CV2061682 | single nucleotide variant | NM_000834.5(GRIN2B):c.2721C>T (p.Asn907=) | Intellectual disability, autosomal dominant 6 [RCV002820425] | likely benign | 12 | 13564517 | 13564517 | Human | 1 | name |
| 156192373 | CV2066432 | single nucleotide variant | NM_000834.5(GRIN2B):c.1536A>G (p.Ser512=) | Intellectual disability, autosomal dominant 6 [RCV002828649] | likely benign | 12 | 13615232 | 13615232 | Human | 1 | name |
| 156218811 | CV2070799 | single nucleotide variant | NM_000834.5(GRIN2B):c.2889C>T (p.Ile963=) | Intellectual disability, autosomal dominant 6 [RCV002829604] | likely benign | 12 | 13564349 | 13564349 | Human | 1 | name |
| 155971278 | CV2077224 | single nucleotide variant | NM_000834.5(GRIN2B):c.1896G>A (p.Val632=) | Intellectual disability, autosomal dominant 6 [RCV002863327] | likely benign | 12 | 13608717 | 13608717 | Human | 1 | name |
| 10403753 | CV207945 | single nucleotide variant | NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=) | Inborn genetic diseases [RCV002317688]|Intellectual disability, autosomal dominant 6 [RCV000548537]|Intellectual disability, autosomal dominant 6 [RCV000610372]|not provided [RCV004808621]|not specified [RCV000193332] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13608762 | 13608762 | Human | 2 | name |
| 10403425 | CV207946 | single nucleotide variant | NM_000834.5(GRIN2B):c.1479C>G (p.Thr493=) | Intellectual disability, autosomal dominant 6 [RCV002517079]|not specified [RCV000192492] | benign|uncertain significance | 12 | 13615514 | 13615514 | Human | 1 | name |
| 10406808 | CV207947 | single nucleotide variant | NM_000834.5(GRIN2B):c.248C>T (p.Thr83Ile) | not specified [RCV000194221] | uncertain significance | 12 | 13865961 | 13865961 | Human | | name |
| 156221237 | CV2084019 | single nucleotide variant | NM_000834.5(GRIN2B):c.1908C>T (p.Ala636=) | Intellectual disability, autosomal dominant 6 [RCV002875877] | likely benign | 12 | 13608705 | 13608705 | Human | 1 | name |
| 155911117 | CV2084779 | single nucleotide variant | NM_000834.5(GRIN2B):c.2628G>C (p.Ala876=) | Intellectual disability, autosomal dominant 6 [RCV002858499] | likely benign | 12 | 13564610 | 13564610 | Human | 1 | name |
| 155976918 | CV2085294 | single nucleotide variant | NM_000834.5(GRIN2B):c.2733G>A (p.Leu911=) | Intellectual disability, autosomal dominant 6 [RCV002863576] | likely benign | 12 | 13564505 | 13564505 | Human | 1 | name |
| 156325479 | CV2108525 | single nucleotide variant | NM_000834.5(GRIN2B):c.1053C>T (p.Phe351=) | Intellectual disability, autosomal dominant 6 [RCV002938054] | likely benign | 12 | 13675817 | 13675817 | Human | 1 | name |
| 156387530 | CV2122118 | single nucleotide variant | NM_000834.5(GRIN2B):c.2979T>C (p.Ser993=) | Intellectual disability, autosomal dominant 6 [RCV002943601] | likely benign | 12 | 13564259 | 13564259 | Human | 1 | name |
| 156001151 | CV2122875 | single nucleotide variant | NM_000834.5(GRIN2B):c.1266G>A (p.Val422=) | Intellectual disability, autosomal dominant 6 [RCV002975185] | likely benign | 12 | 13616517 | 13616517 | Human | 1 | name |
| 155956957 | CV2141831 | single nucleotide variant | NM_000834.5(GRIN2B):c.244A>G (p.Ile82Val) | Intellectual disability, autosomal dominant 6 [RCV002972176] | uncertain significance | 12 | 13865965 | 13865965 | Human | 1 | name |
| 155916856 | CV2152287 | single nucleotide variant | NM_000834.5(GRIN2B):c.1596A>C (p.Thr532=) | Intellectual disability, autosomal dominant 6 [RCV002991701] | likely benign | 12 | 13615172 | 13615172 | Human | 1 | name |
| 156104982 | CV2180904 | single nucleotide variant | NM_000834.5(GRIN2B):c.2181T>C (p.Asp727=) | Intellectual disability, autosomal dominant 6 [RCV003054864] | likely benign | 12 | 13570008 | 13570008 | Human | 1 | name |
| 11089618 | CV231846 | single nucleotide variant | NM_000834.5(GRIN2B):c.251G>A (p.Arg84His) | Inborn genetic diseases [RCV002429083]|Intellectual disability, autosomal dominant 6 [RCV005222845]|not provided [RCV000215040] | likely benign|uncertain significance | 12 | 13865958 | 13865958 | Human | 2 | name |
| 243059895 | CV2412805 | single nucleotide variant | NM_000834.5(GRIN2B):c.200G>A (p.Arg67Gln) | Intellectual disability, autosomal dominant 6 [RCV005227884]|not provided [RCV003135473] | uncertain significance | 12 | 13866009 | 13866009 | Human | 1 | name |
| 11523364 | CV244791 | single nucleotide variant | NM_000834.5(GRIN2B):c.2703G>A (p.Leu901=) | Inborn genetic diseases [RCV002311362]|Intellectual disability, autosomal dominant 6 [RCV000459005]|not specified [RCV000235696] | benign|likely benign|uncertain significance | 12 | 13564535 | 13564535 | Human | 2 | name |
| 11523393 | CV244794 | single nucleotide variant | NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=) | Inborn genetic diseases [RCV002313965]|Intellectual disability, autosomal dominant 6 [RCV000476811]|not provided [RCV001529239] | benign|likely benign|uncertain significance | 12 | 13567142 | 13567142 | Human | 2 | name |
| 11523099 | CV244797 | single nucleotide variant | NM_000834.5(GRIN2B):c.2202A>G (p.Ala734=) | Inborn genetic diseases [RCV002317774]|Intellectual disability, autosomal dominant 6 [RCV000655338]|not provided [RCV004703499]|not specified [RCV000235336] | benign|likely benign | 12 | 13569987 | 13569987 | Human | 2 | name |
| 11523405 | CV244800 | single nucleotide variant | NM_000834.5(GRIN2B):c.2017A>C (p.Arg673=) | Intellectual disability, autosomal dominant 6 [RCV000541820]|not specified [RCV000235852] | likely benign | 12 | 13571958 | 13571958 | Human | 1 | name |
| 11524141 | CV244807 | single nucleotide variant | NM_000834.5(GRIN2B):c.1125G>A (p.Arg375=) | GRIN2B-related disorder [RCV004532975]|Intellectual disability, autosomal dominant 6 [RCV001364200]|not provided [RCV000237026] | likely benign|uncertain significance | 12 | 13675745 | 13675745 | Human | 1 | name , alternate_id |
| 11523354 | CV244808 | single nucleotide variant | NM_000834.5(GRIN2B):c.1038G>A (p.Gly346=) | Intellectual disability, autosomal dominant 6 [RCV002057260]|not provided [RCV001697620] | likely benign | 12 | 13675832 | 13675832 | Human | 1 | name |
| 11523277 | CV244809 | single nucleotide variant | NM_000834.5(GRIN2B):c.1035G>A (p.Glu345=) | Intellectual disability, autosomal dominant 6 [RCV001399201]|not specified [RCV000235478] | benign|likely benign | 12 | 13675835 | 13675835 | Human | 1 | name |
| 11523616 | CV244810 | single nucleotide variant | NM_000834.5(GRIN2B):c.1020C>T (p.Ile340=) | Intellectual disability, autosomal dominant 6 [RCV000884738]|not provided [RCV001753711] | benign|likely benign | 12 | 13675850 | 13675850 | Human | 1 | name |
| 401856474 | CV2752532 | single nucleotide variant | NM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser) | Developmental and epileptic encephalopathy, 27 [RCV003340870] | uncertain significance | 12 | 13866052 | 13866052 | Human | 1 | name |
| 401905983 | CV2806757 | single nucleotide variant | NM_000834.5(GRIN2B):c.2997C>T (p.Ser999=) | not provided [RCV003396250] | likely benign | 12 | 13564241 | 13564241 | Human | | name |
| 401905985 | CV2806758 | single nucleotide variant | NM_000834.5(GRIN2B):c.2457A>G (p.Ala819=) | Intellectual disability, autosomal dominant 6 [RCV005228042]|not provided [RCV003396251] | likely benign | 12 | 13567166 | 13567166 | Human | 1 | name |
| 401905987 | CV2806760 | single nucleotide variant | NM_000834.5(GRIN2B):c.1479C>T (p.Thr493=) | not provided [RCV003396253] | likely benign | 12 | 13615514 | 13615514 | Human | | name |
| 401905989 | CV2806761 | single nucleotide variant | NM_000834.5(GRIN2B):c.1449T>C (p.Asn483=) | not provided [RCV003396254] | likely benign | 12 | 13615544 | 13615544 | Human | | name |
| 405023319 | CV3081909 | single nucleotide variant | NM_000834.5(GRIN2B):c.2919G>A (p.Leu973=) | Intellectual disability, autosomal dominant 6 [RCV003785515] | likely benign | 12 | 13564319 | 13564319 | Human | 1 | name |
| 405022666 | CV3084898 | single nucleotide variant | NM_000834.5(GRIN2B):c.2877C>T (p.Phe959=) | Intellectual disability, autosomal dominant 6 [RCV003795764] | likely benign | 12 | 13564361 | 13564361 | Human | 1 | name |
| 405022692 | CV3084900 | single nucleotide variant | NM_000834.5(GRIN2B):c.2385C>G (p.Leu795=) | Intellectual disability, autosomal dominant 6 [RCV003795766] | likely benign | 12 | 13567238 | 13567238 | Human | 1 | name |
| 405022705 | CV3084901 | single nucleotide variant | NM_000834.5(GRIN2B):c.1701C>T (p.Leu567=) | Intellectual disability, autosomal dominant 6 [RCV003795767] | likely benign | 12 | 13611804 | 13611804 | Human | 1 | name |
| 404996375 | CV3085483 | single nucleotide variant | NM_000834.5(GRIN2B):c.2064C>T (p.Asn688=) | Intellectual disability, autosomal dominant 6 [RCV003783014] | likely benign | 12 | 13571911 | 13571911 | Human | 1 | name |
| 404996751 | CV3085517 | single nucleotide variant | NM_000834.5(GRIN2B):c.2163G>A (p.Leu721=) | Intellectual disability, autosomal dominant 6 [RCV003783048] | likely benign | 12 | 13571812 | 13571812 | Human | 1 | name |
| 402512399 | CV3087388 | single nucleotide variant | NM_000834.5(GRIN2B):c.199C>T (p.Arg67Trp) | Intellectual disability, autosomal dominant 6 [RCV003789739] | likely benign | 12 | 13866010 | 13866010 | Human | 1 | name |
| 402508747 | CV3088838 | single nucleotide variant | NM_000834.5(GRIN2B):c.1401A>G (p.Lys467=) | Intellectual disability, autosomal dominant 6 [RCV003780042] | likely benign | 12 | 13615592 | 13615592 | Human | 1 | name |
| 402495653 | CV3092436 | single nucleotide variant | NM_000834.5(GRIN2B):c.1608C>T (p.Val536=) | Intellectual disability, autosomal dominant 6 [RCV003788056] | likely benign | 12 | 13615160 | 13615160 | Human | 1 | name |
| 402497368 | CV3092745 | single nucleotide variant | NM_000834.5(GRIN2B):c.1245A>G (p.Pro415=) | Intellectual disability, autosomal dominant 6 [RCV003788208] | likely benign | 12 | 13616538 | 13616538 | Human | 1 | name |
| 405019680 | CV3094478 | single nucleotide variant | NM_000834.5(GRIN2B):c.2205G>A (p.Val735=) | Intellectual disability, autosomal dominant 6 [RCV003785168] | likely benign | 12 | 13569984 | 13569984 | Human | 1 | name |
| 404989876 | CV3094610 | single nucleotide variant | NM_000834.5(GRIN2B):c.2517A>G (p.Glu839=) | Intellectual disability, autosomal dominant 6 [RCV003792621] | likely benign | 12 | 13567106 | 13567106 | Human | 1 | name |
| 404982371 | CV3100085 | single nucleotide variant | NM_000834.5(GRIN2B):c.2779C>A (p.Arg927=) | Intellectual disability, autosomal dominant 6 [RCV003791752] | likely benign | 12 | 13564459 | 13564459 | Human | 1 | name |
| 405017428 | CV3100748 | single nucleotide variant | NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=) | Intellectual disability, autosomal dominant 6 [RCV003805496] | likely benign | 12 | 13615646 | 13615646 | Human | 1 | name |
| 405018841 | CV3100900 | single nucleotide variant | NM_000834.5(GRIN2B):c.1758C>T (p.Asn586=) | Intellectual disability, autosomal dominant 6 [RCV003805648] | likely benign | 12 | 13611747 | 13611747 | Human | 1 | name |
| 405003864 | CV3102233 | single nucleotide variant | NM_000834.5(GRIN2B):c.2646T>C (p.Ser882=) | Intellectual disability, autosomal dominant 6 [RCV003804279] | likely benign | 12 | 13564592 | 13564592 | Human | 1 | name |
| 405170927 | CV3104336 | single nucleotide variant | NM_000834.5(GRIN2B):c.1932C>G (p.Ala644=) | Intellectual disability, autosomal dominant 6 [RCV003803013] | likely benign | 12 | 13608681 | 13608681 | Human | 1 | name |
| 405035081 | CV3108563 | single nucleotide variant | NM_000834.5(GRIN2B):c.2301A>G (p.Gln767=) | Intellectual disability, autosomal dominant 6 [RCV003807021] | likely benign | 12 | 13569888 | 13569888 | Human | 1 | name |
| 405009473 | CV3109069 | single nucleotide variant | NM_000834.5(GRIN2B):c.1773T>C (p.Asp591=) | Intellectual disability, autosomal dominant 6 [RCV003804736] | likely benign | 12 | 13611732 | 13611732 | Human | 1 | name |
| 405067188 | CV3110973 | single nucleotide variant | NM_000834.5(GRIN2B):c.1386T>C (p.Ile462=) | Intellectual disability, autosomal dominant 6 [RCV003809477] | likely benign | 12 | 13615607 | 13615607 | Human | 1 | name |
| 405072062 | CV3111451 | single nucleotide variant | NM_000834.5(GRIN2B):c.266T>C (p.Met89Thr) | Intellectual disability, autosomal dominant 6 [RCV003809790] | uncertain significance | 12 | 13865943 | 13865943 | Human | 1 | name |
| 405108165 | CV3112256 | single nucleotide variant | NM_000834.5(GRIN2B):c.2184C>T (p.Ala728=) | Intellectual disability, autosomal dominant 6 [RCV003813099] | likely benign | 12 | 13570005 | 13570005 | Human | 1 | name |
| 405109119 | CV3112405 | single nucleotide variant | NM_000834.5(GRIN2B):c.101G>C (p.Ser34Thr) | Intellectual disability, autosomal dominant 6 [RCV003813248] | uncertain significance | 12 | 13866108 | 13866108 | Human | 1 | name |
| 405108977 | CV3112447 | single nucleotide variant | NM_000834.5(GRIN2B):c.251G>C (p.Arg84Pro) | Intellectual disability, autosomal dominant 6 [RCV003813290]|not provided [RCV004780663] | uncertain significance | 12 | 13865958 | 13865958 | Human | 1 | name |
| 405039250 | CV3112713 | single nucleotide variant | NM_000834.5(GRIN2B):c.2242C>T (p.Leu748=) | Intellectual disability, autosomal dominant 6 [RCV003807380] | likely benign | 12 | 13569947 | 13569947 | Human | 1 | name |
| 405105185 | CV3113178 | single nucleotide variant | NM_000834.5(GRIN2B):c.1659A>C (p.Pro553=) | Intellectual disability, autosomal dominant 6 [RCV003812469] | likely benign | 12 | 13611846 | 13611846 | Human | 1 | name |
| 405106210 | CV3113383 | single nucleotide variant | NM_000834.5(GRIN2B):c.2835C>T (p.Asp945=) | Intellectual disability, autosomal dominant 6 [RCV003812675] | likely benign | 12 | 13564403 | 13564403 | Human | 1 | name |
| 405107249 | CV3113785 | single nucleotide variant | NM_000834.5(GRIN2B):c.1560G>C (p.Ser520=) | Intellectual disability, autosomal dominant 6 [RCV003812908] | likely benign | 12 | 13615208 | 13615208 | Human | 1 | name |
| 405107556 | CV3113832 | single nucleotide variant | NM_000834.5(GRIN2B):c.1965C>A (p.Ile655=) | Intellectual disability, autosomal dominant 6 [RCV003812955] | likely benign | 12 | 13608648 | 13608648 | Human | 1 | name |
| 11612145 | CV323841 | single nucleotide variant | NM_000834.5(GRIN2B):c.1767C>T (p.Leu589=) | Intellectual disability, autosomal dominant 6 [RCV001484672] | likely benign|uncertain significance | 12 | 13611738 | 13611738 | Human | 1 | name |
| 11607494 | CV323848 | single nucleotide variant | NM_000834.5(GRIN2B):c.1569C>T (p.Val523=) | GRIN2B-related disorder [RCV004734971]|Inborn genetic diseases [RCV002314046]|Intellectual disability, autosomal dominant 6 [RCV000866738]|not provided [RCV001718626] | benign|likely benign|uncertain significance | 12 | 13615199 | 13615199 | Human | 2 | name , alternate_id |
| 11604419 | CV323858 | single nucleotide variant | NM_000834.5(GRIN2B):c.1320A>T (p.Ile440=) | Intellectual disability, autosomal dominant 6 [RCV002142167] | likely benign|uncertain significance | 12 | 13616463 | 13616463 | Human | 1 | name |
| 11614740 | CV329923 | single nucleotide variant | NM_000834.5(GRIN2B):c.2247G>A (p.Val749=) | Inborn genetic diseases [RCV002317831]|Intellectual disability, autosomal dominant 6 [RCV001502692]|not provided [RCV000655332]|not specified [RCV004999284] | likely benign|uncertain significance | 12 | 13569942 | 13569942 | Human | 2 | name |
| 11623644 | CV329926 | single nucleotide variant | NM_000834.4(GRIN2B):c.2169A>T (p.Thr723=) | Intellectual Disability, Dominant [RCV000375589] | uncertain significance | 12 | 13571806 | 13571806 | Human | | name |
| 11663754 | CV329927 | single nucleotide variant | NM_000834.5(GRIN2B):c.1500G>A (p.Glu500=) | Intellectual disability, autosomal dominant 6 [RCV003790091]|not specified [RCV005240930] | uncertain significance | 12 | 13615493 | 13615493 | Human | 1 | name |
| 11622764 | CV331237 | single nucleotide variant | NM_000834.5(GRIN2B):c.2826G>A (p.Thr942=) | Intellectual disability, autosomal dominant 6 [RCV000865734]|not provided [RCV001697659] | likely benign|uncertain significance | 12 | 13564412 | 13564412 | Human | 1 | name |
| 405852828 | CV3393254 | single nucleotide variant | NM_000834.5(GRIN2B):c.2688C>A (p.Ser896=) | not provided [RCV004545984] | likely benign | 12 | 13564550 | 13564550 | Human | | name |
| 596929340 | CV3531041 | single nucleotide variant | NM_000834.5(GRIN2B):c.233C>G (p.Pro78Arg) | Intellectual disability, autosomal dominant 6 [RCV005052101]|not provided [RCV004779615] | uncertain significance | 12 | 13865976 | 13865976 | Human | 1 | name |
| 12832871 | CV372139 | single nucleotide variant | NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=) | Inborn genetic diseases [RCV002318403]|Intellectual disability, autosomal dominant 6 [RCV000866098]|not provided [RCV001311290]|not specified [RCV001821164] | benign|likely benign | 12 | 13615637 | 13615637 | Human | 2 | name |
| 12840510 | CV372143 | single nucleotide variant | NM_000834.5(GRIN2B):c.1080G>T (p.Pro360=) | Intellectual disability, autosomal dominant 6 [RCV001441331]|not specified [RCV000430853] | likely benign | 12 | 13675790 | 13675790 | Human | 1 | name |
| 12838823 | CV372857 | single nucleotide variant | NM_000834.5(GRIN2B):c.2046C>G (p.Arg682=) | not specified [RCV000427676] | likely benign | 12 | 13571929 | 13571929 | Human | | name |
| 12836750 | CV372862 | single nucleotide variant | NM_000834.5(GRIN2B):c.1704C>T (p.Ile568=) | Inborn genetic diseases [RCV002411292]|Intellectual disability, autosomal dominant 6 [RCV000560290]|not specified [RCV000423957] | benign|likely benign | 12 | 13611801 | 13611801 | Human | 2 | name |
| 12836911 | CV373108 | single nucleotide variant | NM_000834.5(GRIN2B):c.1881C>T (p.Thr627=) | Intellectual disability, autosomal dominant 6 [RCV003766351]|not specified [RCV000424248] | likely benign | 12 | 13608732 | 13608732 | Human | 1 | name |
| 12842926 | CV374875 | single nucleotide variant | NM_000834.5(GRIN2B):c.1099C>T (p.Leu367=) | not specified [RCV000435293] | likely benign | 12 | 13675771 | 13675771 | Human | | name |
| 597895702 | CV3865408 | single nucleotide variant | NM_000834.5(GRIN2B):c.1806C>A (p.Ile602=) | Intellectual disability, autosomal dominant 6 [RCV005219531] | uncertain significance | 12 | 13608807 | 13608807 | Human | 1 | name |
| 597838530 | CV3867009 | single nucleotide variant | NM_000834.5(GRIN2B):c.1068C>T (p.Tyr356=) | Intellectual disability, autosomal dominant 6 [RCV005226001] | likely benign | 12 | 13675802 | 13675802 | Human | 1 | name |
| 597855019 | CV3870588 | single nucleotide variant | NM_000834.5(GRIN2B):c.2161C>T (p.Leu721=) | Intellectual disability, autosomal dominant 6 [RCV005228789] | likely benign | 12 | 13571814 | 13571814 | Human | 1 | name |
| 597878662 | CV3871890 | single nucleotide variant | NM_000834.5(GRIN2B):c.1734G>A (p.Glu578=) | Intellectual disability, autosomal dominant 6 [RCV005216941] | likely benign | 12 | 13611771 | 13611771 | Human | 1 | name |
| 597847926 | CV3872763 | single nucleotide variant | NM_000834.5(GRIN2B):c.1003C>T (p.Leu335=) | Intellectual disability, autosomal dominant 6 [RCV005212399] | likely benign | 12 | 13753324 | 13753324 | Human | 1 | name |
| 597849863 | CV3873006 | single nucleotide variant | NM_000834.5(GRIN2B):c.167A>C (p.Lys56Thr) | Intellectual disability, autosomal dominant 6 [RCV005212644] | uncertain significance | 12 | 13866042 | 13866042 | Human | 1 | name |
| 597903100 | CV3873156 | single nucleotide variant | NM_000834.5(GRIN2B):c.1230C>T (p.Thr410=) | Intellectual disability, autosomal dominant 6 [RCV005220594] | likely benign | 12 | 13616553 | 13616553 | Human | 1 | name |
| 597874043 | CV3874847 | single nucleotide variant | NM_000834.5(GRIN2B):c.1185T>C (p.Cys395=) | Intellectual disability, autosomal dominant 6 [RCV005216323] | likely benign | 12 | 13616598 | 13616598 | Human | 1 | name |
| 597900741 | CV3876554 | single nucleotide variant | NM_000834.5(GRIN2B):c.2176C>T (p.Leu726=) | Intellectual disability, autosomal dominant 6 [RCV005220252] | likely benign | 12 | 13570013 | 13570013 | Human | 1 | name |
| 597901338 | CV3876634 | single nucleotide variant | NM_000834.5(GRIN2B):c.1230C>G (p.Thr410=) | Intellectual disability, autosomal dominant 6 [RCV005220332] | likely benign | 12 | 13616553 | 13616553 | Human | 1 | name |
| 597902637 | CV3876760 | single nucleotide variant | NM_000834.5(GRIN2B):c.2136G>A (p.Arg712=) | Intellectual disability, autosomal dominant 6 [RCV005220458] | likely benign | 12 | 13571839 | 13571839 | Human | 1 | name |
| 597925790 | CV3877306 | single nucleotide variant | NM_000834.5(GRIN2B):c.1251C>T (p.Val417=) | Intellectual disability, autosomal dominant 6 [RCV005224002] | likely benign | 12 | 13616532 | 13616532 | Human | 1 | name |
| 597931167 | CV3878552 | single nucleotide variant | NM_000834.5(GRIN2B):c.2268C>G (p.Val756=) | Intellectual disability, autosomal dominant 6 [RCV005224922] | likely benign | 12 | 13569921 | 13569921 | Human | 1 | name |
| 597931248 | CV3878564 | single nucleotide variant | NM_000834.5(GRIN2B):c.2499C>T (p.Leu833=) | Intellectual disability, autosomal dominant 6 [RCV005224934] | likely benign | 12 | 13567124 | 13567124 | Human | 1 | name |
| 598128469 | CV3887673 | single nucleotide variant | NM_000834.5(GRIN2B):c.160C>T (p.His54Tyr) | not provided [RCV005243847] | uncertain significance | 12 | 13866049 | 13866049 | Human | | name |
| 12889441 | CV399031 | single nucleotide variant | NM_000834.5(GRIN2B):c.2847C>T (p.Tyr949=) | Inborn genetic diseases [RCV002318564]|Intellectual disability, autosomal dominant 6 [RCV000472747] | likely benign | 12 | 13564391 | 13564391 | Human | 2 | name |
| 12884742 | CV399340 | single nucleotide variant | NM_000834.5(GRIN2B):c.1023T>C (p.Asn341=) | Intellectual disability, autosomal dominant 6 [RCV000464030]|not provided [RCV001562379] | likely benign | 12 | 13675847 | 13675847 | Human | 1 | name |
| 12905703 | CV413335 | single nucleotide variant | NM_000834.5(GRIN2B):c.1767C>G (p.Leu589=) | not provided [RCV000487863] | uncertain significance | 12 | 13611738 | 13611738 | Human | | name |
| 13473654 | CV462055 | single nucleotide variant | NM_000834.5(GRIN2B):c.2913G>A (p.Gly971=) | Intellectual disability, autosomal dominant 6 [RCV000525473] | likely benign | 12 | 13564325 | 13564325 | Human | 1 | name |
| 13526935 | CV503713 | single nucleotide variant | NM_000834.5(GRIN2B):c.1560G>A (p.Ser520=) | Inborn genetic diseases [RCV002315914]|Intellectual disability, autosomal dominant 6 [RCV000923578]|not provided [RCV005243306]|not specified [RCV000604793] | likely benign | 12 | 13615208 | 13615208 | Human | 2 | name |
| 13541084 | CV503720 | single nucleotide variant | NM_000834.5(GRIN2B):c.1275G>A (p.Leu425=) | Inborn genetic diseases [RCV002377274]|Intellectual disability, autosomal dominant 6 [RCV001475520]|not provided [RCV001697877] | likely benign | 12 | 13616508 | 13616508 | Human | 2 | name |
| 13536444 | CV504006 | single nucleotide variant | NM_000834.5(GRIN2B):c.2202A>C (p.Ala734=) | Intellectual disability, autosomal dominant 6 [RCV001462993]|not provided [RCV001722594] | likely benign | 12 | 13569987 | 13569987 | Human | 1 | name |
| 13534652 | CV504719 | single nucleotide variant | NM_000834.5(GRIN2B):c.2250C>G (p.Thr750=) | Intellectual disability, autosomal dominant 6 [RCV001462078]|not provided [RCV001697965] | likely benign | 12 | 13569939 | 13569939 | Human | 1 | name |
| 13538101 | CV504723 | single nucleotide variant | NM_000834.5(GRIN2B):c.1704C>A (p.Ile568=) | Inborn genetic diseases [RCV002317356]|not specified [RCV000611344] | likely benign | 12 | 13611801 | 13611801 | Human | 1 | name |
| 13626763 | CV527029 | single nucleotide variant | NM_000834.5(GRIN2B):c.2754G>A (p.Pro918=) | Intellectual disability, autosomal dominant 6 [RCV000655333] | likely benign | 12 | 13564484 | 13564484 | Human | 1 | name |
| 13626777 | CV527237 | single nucleotide variant | NM_000834.5(GRIN2B):c.2715C>T (p.Ala905=) | Intellectual disability, autosomal dominant 6 [RCV000655336] | likely benign | 12 | 13564523 | 13564523 | Human | 1 | name |
| 13626761 | CV527546 | single nucleotide variant | NM_000834.5(GRIN2B):c.1878C>A (p.Thr626=) | Intellectual disability, autosomal dominant 6 [RCV000655328] | likely benign | 12 | 13608735 | 13608735 | Human | 1 | name |
| 13706051 | CV537190 | single nucleotide variant | NM_000834.5(GRIN2B):c.1176C>A (p.Pro392=) | not provided [RCV000658640] | likely benign | 12 | 13616607 | 13616607 | Human | | name |
| 13830364 | CV579773 | single nucleotide variant | NM_000834.5(GRIN2B):c.2991C>A (p.Ala997=) | Inborn genetic diseases [RCV002317484]|Intellectual disability, autosomal dominant 6 [RCV000938288] | likely benign | 12 | 13564247 | 13564247 | Human | 2 | name |
| 13829549 | CV579776 | single nucleotide variant | NM_000834.5(GRIN2B):c.2856G>A (p.Pro952=) | Inborn genetic diseases [RCV002315402]|Intellectual disability, autosomal dominant 6 [RCV001416780]|not provided [RCV001091149] | likely benign | 12 | 13564382 | 13564382 | Human | 2 | name |
| 13830354 | CV579798 | single nucleotide variant | NM_000834.5(GRIN2B):c.1080G>A (p.Pro360=) | Inborn genetic diseases [RCV002317470]|Intellectual disability, autosomal dominant 6 [RCV001482674]|not provided [RCV004584800] | likely benign | 12 | 13675790 | 13675790 | Human | 2 | name |
| 13830441 | CV580052 | single nucleotide variant | NM_000834.5(GRIN2B):c.241A>G (p.Ile81Val) | Inborn genetic diseases [RCV002317562]|Intellectual disability, autosomal dominant 6 [RCV003768156] | uncertain significance | 12 | 13865968 | 13865968 | Human | 2 | name |
| 14709351 | CV641004 | single nucleotide variant | NM_000834.5(GRIN2B):c.1287C>T (p.Cys429=) | Intellectual disability, autosomal dominant 6 [RCV000809327] | uncertain significance | 12 | 13616496 | 13616496 | Human | 1 | name |
| 15132111 | CV684314 | single nucleotide variant | NM_000834.5(GRIN2B):c.2808G>A (p.Glu936=) | Inborn genetic diseases [RCV002434077]|Intellectual disability, autosomal dominant 6 [RCV000863745]|not provided [RCV003392639] | likely benign | 12 | 13564430 | 13564430 | Human | 2 | name |
| 15131518 | CV684315 | single nucleotide variant | NM_000834.5(GRIN2B):c.2055C>T (p.Thr685=) | Intellectual disability, autosomal dominant 6 [RCV001439809]|not provided [RCV000863631] | likely benign | 12 | 13571920 | 13571920 | Human | 1 | name |
| 15134068 | CV684316 | single nucleotide variant | NM_000834.5(GRIN2B):c.2001C>T (p.Ser667=) | GRIN2B-related disorder [RCV004538214]|Intellectual disability, autosomal dominant 6 [RCV000864070] | likely benign | 12 | 13608612 | 13608612 | Human | 1 | name , alternate_id |
| 15159843 | CV687944 | single nucleotide variant | NM_000834.5(GRIN2B):c.2865G>A (p.Glu955=) | Intellectual disability, autosomal dominant 6 [RCV001441183] | likely benign | 12 | 13564373 | 13564373 | Human | 1 | name |
| 15162132 | CV687945 | single nucleotide variant | NM_000834.5(GRIN2B):c.2145T>C (p.Asp715=) | Intellectual disability, autosomal dominant 6 [RCV001487921] | likely benign | 12 | 13571830 | 13571830 | Human | 1 | name |
| 15149863 | CV687948 | single nucleotide variant | NM_000834.5(GRIN2B):c.250C>T (p.Arg84Cys) | Intellectual disability, autosomal dominant 6 [RCV001447365]|not provided [RCV004808914]|not specified [RCV004768726] | likely benign|uncertain significance | 12 | 13865959 | 13865959 | Human | 1 | name |
| 15109832 | CV693171 | single nucleotide variant | NM_000834.5(GRIN2B):c.1350G>A (p.Pro450=) | Intellectual disability, autosomal dominant 6 [RCV000871976]|not provided [RCV004705836] | likely benign | 12 | 13615643 | 13615643 | Human | 1 | name |
| 15188410 | CV702253 | single nucleotide variant | NM_000834.5(GRIN2B):c.2760C>T (p.Ser920=) | Intellectual disability, autosomal dominant 6 [RCV001465323] | likely benign | 12 | 13564478 | 13564478 | Human | 1 | name |
| 15122039 | CV753261 | single nucleotide variant | NM_000834.5(GRIN2B):c.2631C>T (p.Ile877=) | Intellectual disability, autosomal dominant 6 [RCV002065922] | likely benign | 12 | 13564607 | 13564607 | Human | 1 | name |
| 15142333 | CV753262 | single nucleotide variant | NM_000834.5(GRIN2B):c.1479C>A (p.Thr493=) | Intellectual disability, autosomal dominant 6 [RCV001489701]|not provided [RCV003886453] | likely benign | 12 | 13615514 | 13615514 | Human | 1 | name |
| 15149495 | CV769027 | single nucleotide variant | NM_000834.5(GRIN2B):c.1938C>T (p.Tyr646=) | Intellectual disability, autosomal dominant 6 [RCV001438651] | likely benign | 12 | 13608675 | 13608675 | Human | 1 | name |
| 15187590 | CV769028 | single nucleotide variant | NM_000834.5(GRIN2B):c.1620C>T (p.Arg540=) | not provided [RCV000931705] | likely benign | 12 | 13615148 | 13615148 | Human | | name |
| 15116478 | CV784346 | single nucleotide variant | NM_000834.5(GRIN2B):c.2550T>C (p.Phe850=) | Intellectual disability, autosomal dominant 6 [RCV001445399] | likely benign | 12 | 13567073 | 13567073 | Human | 1 | name |
| 15101670 | CV784347 | single nucleotide variant | NM_000834.5(GRIN2B):c.1944C>T (p.Ala648=) | Intellectual disability, autosomal dominant 6 [RCV000975637] | likely benign | 12 | 13608669 | 13608669 | Human | 1 | name |
| 21074224 | CV796727 | single nucleotide variant | NM_000834.5(GRIN2B):c.2613C>T (p.Cys871=) | not provided [RCV000994857] | uncertain significance | 12 | 13564625 | 13564625 | Human | | name |
| 26897754 | CV822065 | single nucleotide variant | NM_000834.5(GRIN2B):c.278A>G (p.Lys93Arg) | Intellectual disability, autosomal dominant 6 [RCV001034302] | benign | 12 | 13865931 | 13865931 | Human | 1 | name |
| 26923655 | CV839712 | single nucleotide variant | NM_000834.5(GRIN2B):c.1674A>G (p.Val558=) | Intellectual disability, autosomal dominant 6 [RCV001064394] | likely benign|uncertain significance | 12 | 13611831 | 13611831 | Human | 1 | name |
| 26918095 | CV839717 | single nucleotide variant | NM_000834.5(GRIN2B):c.282C>G (p.Ile94Met) | Intellectual disability, autosomal dominant 6 [RCV001057538] | uncertain significance | 12 | 13865927 | 13865927 | Human | 1 | name |
| 26921884 | CV839718 | single nucleotide variant | NM_000834.5(GRIN2B):c.170A>T (p.Asp57Val) | Inborn genetic diseases [RCV001267491]|Intellectual disability, autosomal dominant 6 [RCV001061387]|not provided [RCV001563009] | likely benign|uncertain significance | 12 | 13866039 | 13866039 | Human | 2 | name |
| 38485638 | CV926579 | single nucleotide variant | NM_000834.5(GRIN2B):c.1011G>A (p.Arg337=) | Intellectual disability, autosomal dominant 6 [RCV001219961] | likely benign|uncertain significance | 12 | 13675859 | 13675859 | Human | 1 | name |
| 38483306 | CV926580 | single nucleotide variant | NM_000834.5(GRIN2B):c.232C>A (p.Pro78Thr) | Intellectual disability, autosomal dominant 6 [RCV001218890] | uncertain significance | 12 | 13865977 | 13865977 | Human | 1 | name |
| 38487126 | CV936042 | single nucleotide variant | NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln) | GRIN2B-related disorder [RCV004538448]|Intellectual disability, autosomal dominant 6 [RCV001209184]|not provided [RCV003334048] | benign|likely benign|uncertain significance | 12 | 13865934 | 13865934 | Human | 1 | name , alternate_id |
| 38471780 | CV947923 | single nucleotide variant | NM_000834.5(GRIN2B):c.196C>T (p.Pro66Ser) | Intellectual disability, autosomal dominant 6 [RCV001231304] | uncertain significance | 12 | 13866013 | 13866013 | Human | 1 | name |
| 39456444 | CV965530 | single nucleotide variant | NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys) | Developmental and epileptic encephalopathy, 27 [RCV004799320]|Inborn genetic diseases [RCV002402797]|Intellectual disability, autosomal dominant 6 [RCV002570577] | benign|uncertain significance | 12 | 13866046 | 13866046 | Human | 3 | name |
| 40815328 | CV970957 | single nucleotide variant | NM_000834.5(GRIN2B):c.2010G>A (p.Lys670=) | Developmental and epileptic encephalopathy, 27 [RCV001262646]|Intellectual disability, autosomal dominant 6 [RCV002537638] | uncertain significance | 12 | 13608603 | 13608603 | Human | 2 | name |
| 40903906 | CV976365 | deletion | NM_000834.5(GRIN2B):c.996del (p.Asn333fs) | not provided [RCV001269761] | pathogenic | 12 | 13753331 | 13753331 | Human | | name |
| 126771083 | CV1030823 | single nucleotide variant | NM_000834.5(GRIN2B):c.802A>C (p.Thr268Pro) | Intellectual disability, autosomal dominant 6 [RCV001344834] | uncertain significance | 12 | 13753525 | 13753525 | Human | 1 | name |
| 8644917 | CV104324 | single nucleotide variant | NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) | Inborn genetic diseases [RCV002311749]|Intellectual disability, autosomal dominant 6 [RCV000471775]|not provided [RCV000084722]|not specified [RCV000117201] | benign|likely benign|not provided | 12 | 13563020 | 13563020 | Human | 2 | name |
| 8644918 | CV104325 | single nucleotide variant | NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) | Developmental and epileptic encephalopathy, 27 [RCV001701664]|Inborn genetic diseases [RCV002311750]|Intellectual disability, autosomal dominant 6 [RCV001519994]|Intellectual disability, autosomal dominant 6 [RCV001701593]|not provided [RCV000084723]|not specified [RCV000117200] | benign|likely benign|not provided | 12 | 13563041 | 13563041 | Human | 3 | name |
| 8644919 | CV104326 | single nucleotide variant | NM_000834.5(GRIN2B):c.3648C>T (p.Arg1216=) | Inborn genetic diseases [RCV002453415]|Intellectual disability, autosomal dominant 6 [RCV000655342]|not provided [RCV000084724] | likely benign|not provided | 12 | 13563590 | 13563590 | Human | 2 | name |
| 126913372 | CV1047823 | single nucleotide variant | NM_000834.5(GRIN2B):c.427T>C (p.Phe143Leu) | Intellectual disability, autosomal dominant 6 [RCV001370078] | uncertain significance | 12 | 13753900 | 13753900 | Human | 1 | name |
| 127252641 | CV1079251 | single nucleotide variant | NM_000834.5(GRIN2B):c.4323T>C (p.Arg1441=) | Intellectual disability, autosomal dominant 6 [RCV001418121] | likely benign | 12 | 13562915 | 13562915 | Human | 1 | name |
| 127236271 | CV1079252 | single nucleotide variant | NM_000834.5(GRIN2B):c.4245G>T (p.Ser1415=) | Intellectual disability, autosomal dominant 6 [RCV001414639] | likely benign | 12 | 13562993 | 13562993 | Human | 1 | name |
| 127239754 | CV1079253 | single nucleotide variant | NM_000834.5(GRIN2B):c.4242G>A (p.Ala1414=) | Intellectual disability, autosomal dominant 6 [RCV001397639] | likely benign | 12 | 13562996 | 13562996 | Human | 1 | name |
| 127279805 | CV1079254 | single nucleotide variant | NM_000834.5(GRIN2B):c.4101C>G (p.Pro1367=) | Intellectual disability, autosomal dominant 6 [RCV001409344] | likely benign | 12 | 13563137 | 13563137 | Human | 1 | name |
| 127236952 | CV1079255 | single nucleotide variant | NM_000834.5(GRIN2B):c.4089C>T (p.His1363=) | Intellectual disability, autosomal dominant 6 [RCV001414782] | likely benign | 12 | 13563149 | 13563149 | Human | 1 | name |
| 127230587 | CV1079256 | single nucleotide variant | NM_000834.5(GRIN2B):c.3621G>A (p.Glu1207=) | Intellectual disability, autosomal dominant 6 [RCV001412536] | likely benign | 12 | 13563617 | 13563617 | Human | 1 | name |
| 127245154 | CV1079257 | single nucleotide variant | NM_000834.5(GRIN2B):c.3612G>A (p.Val1204=) | Intellectual disability, autosomal dominant 6 [RCV001393828] | likely benign | 12 | 13563626 | 13563626 | Human | 1 | name |
| 127236810 | CV1079258 | single nucleotide variant | NM_000834.5(GRIN2B):c.3492C>T (p.Arg1164=) | Intellectual disability, autosomal dominant 6 [RCV001392154] | likely benign | 12 | 13563746 | 13563746 | Human | 1 | name |
| 127247041 | CV1079259 | single nucleotide variant | NM_000834.5(GRIN2B):c.3054C>T (p.Ile1018=) | Intellectual disability, autosomal dominant 6 [RCV001416841] | likely benign | 12 | 13564184 | 13564184 | Human | 1 | name |
| 127282440 | CV1079260 | single nucleotide variant | NM_000834.5(GRIN2B):c.3012C>T (p.Tyr1004=) | Intellectual disability, autosomal dominant 6 [RCV001411123] | likely benign | 12 | 13564226 | 13564226 | Human | 1 | name |
| 127230393 | CV1087075 | deletion | NM_000834.5(GRIN2B):c.2825del (p.Thr942fs) | See cases [RCV001420295] | likely pathogenic | 12 | 13564413 | 13564413 | Human | | name |
| 127230378 | CV1087076 | deletion | NM_000834.5(GRIN2B):c.2555del (p.Gly852fs) | See cases [RCV001420282] | likely pathogenic | 12 | 13567068 | 13567068 | Human | | name |
| 127260252 | CV1101017 | single nucleotide variant | NM_000834.5(GRIN2B):c.4257G>A (p.Pro1419=) | Intellectual disability, autosomal dominant 6 [RCV001438531] | likely benign | 12 | 13562981 | 13562981 | Human | 1 | name |
| 127271206 | CV1101018 | single nucleotide variant | NM_000834.5(GRIN2B):c.4092C>T (p.His1364=) | Intellectual disability, autosomal dominant 6 [RCV001430850] | likely benign | 12 | 13563146 | 13563146 | Human | 1 | name |
| 127243491 | CV1101019 | single nucleotide variant | NM_000834.5(GRIN2B):c.3990C>T (p.Phe1330=) | Intellectual disability, autosomal dominant 6 [RCV001423963] | likely benign | 12 | 13563248 | 13563248 | Human | 1 | name |
| 127246098 | CV1101020 | single nucleotide variant | NM_000834.5(GRIN2B):c.3702G>A (p.Ser1234=) | Intellectual disability, autosomal dominant 6 [RCV001435336] | likely benign | 12 | 13563536 | 13563536 | Human | 1 | name |
| 127244519 | CV1101021 | single nucleotide variant | NM_000834.5(GRIN2B):c.3690G>C (p.Thr1230=) | Intellectual disability, autosomal dominant 6 [RCV001424119] | likely benign | 12 | 13563548 | 13563548 | Human | 1 | name |
| 127280326 | CV1101022 | single nucleotide variant | NM_000834.5(GRIN2B):c.3573C>T (p.Ser1191=) | Intellectual disability, autosomal dominant 6 [RCV001446380] | likely benign | 12 | 13563665 | 13563665 | Human | 1 | name |
| 127268133 | CV1101024 | single nucleotide variant | NM_000834.5(GRIN2B):c.3201C>T (p.Thr1067=) | Intellectual disability, autosomal dominant 6 [RCV001440695] | likely benign | 12 | 13564037 | 13564037 | Human | 1 | name |
| 127283170 | CV1101025 | single nucleotide variant | NM_000834.5(GRIN2B):c.3126C>T (p.Phe1042=) | Intellectual disability, autosomal dominant 6 [RCV001448333] | likely benign | 12 | 13564112 | 13564112 | Human | 1 | name |
| 127287684 | CV1122464 | single nucleotide variant | NM_000834.5(GRIN2B):c.4434T>C (p.Ser1478=) | Intellectual disability, autosomal dominant 6 [RCV001450189] | likely benign | 12 | 13562804 | 13562804 | Human | 1 | name |
| 127305216 | CV1122465 | single nucleotide variant | NM_000834.5(GRIN2B):c.4149G>A (p.Thr1383=) | Intellectual disability, autosomal dominant 6 [RCV001462433] | likely benign | 12 | 13563089 | 13563089 | Human | 1 | name |
| 127328707 | CV1122466 | single nucleotide variant | NM_000834.5(GRIN2B):c.4008C>T (p.Tyr1336=) | Intellectual disability, autosomal dominant 6 [RCV001469720] | likely benign | 12 | 13563230 | 13563230 | Human | 1 | name |
| 127331497 | CV1122467 | single nucleotide variant | NM_000834.5(GRIN2B):c.3948C>T (p.Ala1316=) | Inborn genetic diseases [RCV002359055]|Intellectual disability, autosomal dominant 6 [RCV001471626] | likely benign | 12 | 13563290 | 13563290 | Human | 2 | name |
| 127306632 | CV1122468 | single nucleotide variant | NM_000834.5(GRIN2B):c.3753G>T (p.Leu1251=) | Inborn genetic diseases [RCV002368393]|Intellectual disability, autosomal dominant 6 [RCV001455584]|not provided [RCV001555619] | likely benign | 12 | 13563485 | 13563485 | Human | 2 | name |
| 127332106 | CV1122469 | single nucleotide variant | NM_000834.5(GRIN2B):c.3681G>A (p.Thr1227=) | Intellectual disability, autosomal dominant 6 [RCV001472014] | likely benign | 12 | 13563557 | 13563557 | Human | 1 | name |
| 127314999 | CV1122470 | single nucleotide variant | NM_000834.5(GRIN2B):c.3486T>C (p.Phe1162=) | Intellectual disability, autosomal dominant 6 [RCV001465116] | likely benign | 12 | 13563752 | 13563752 | Human | 1 | name |
| 127337684 | CV1122472 | single nucleotide variant | NM_000834.5(GRIN2B):c.3234C>G (p.Ala1078=) | Intellectual disability, autosomal dominant 6 [RCV001475798] | likely benign | 12 | 13564004 | 13564004 | Human | 1 | name |
| 127336050 | CV1122473 | single nucleotide variant | NM_000834.5(GRIN2B):c.3156C>T (p.His1052=) | Intellectual disability, autosomal dominant 6 [RCV001474733] | likely benign | 12 | 13564082 | 13564082 | Human | 1 | name |
| 127312013 | CV1122474 | single nucleotide variant | NM_000834.5(GRIN2B):c.3090C>A (p.Ser1030=) | Intellectual disability, autosomal dominant 6 [RCV001457048] | likely benign | 12 | 13564148 | 13564148 | Human | 1 | name |
| 127312354 | CV1122485 | single nucleotide variant | NM_000834.5(GRIN2B):c.920T>G (p.Met307Arg) | Intellectual disability, autosomal dominant 6 [RCV001457124] | likely benign | 12 | 13753407 | 13753407 | Human | 1 | name |
| 127295942 | CV1143333 | single nucleotide variant | NM_000834.5(GRIN2B):c.4128G>A (p.Ser1376=) | Intellectual disability, autosomal dominant 6 [RCV001497369] | likely benign | 12 | 13563110 | 13563110 | Human | 1 | name |
| 127309125 | CV1143334 | single nucleotide variant | NM_000834.5(GRIN2B):c.4104C>A (p.Gly1368=) | Intellectual disability, autosomal dominant 6 [RCV001480762] | likely benign | 12 | 13563134 | 13563134 | Human | 1 | name |
| 127294904 | CV1143335 | single nucleotide variant | NM_000834.5(GRIN2B):c.3798G>A (p.Pro1266=) | Intellectual disability, autosomal dominant 6 [RCV001497108] | likely benign | 12 | 13563440 | 13563440 | Human | 1 | name |
| 127317756 | CV1143336 | single nucleotide variant | NM_000834.5(GRIN2B):c.3702G>C (p.Ser1234=) | Intellectual disability, autosomal dominant 6 [RCV001483251] | likely benign | 12 | 13563536 | 13563536 | Human | 1 | name |
| 127320667 | CV1143337 | single nucleotide variant | NM_000834.5(GRIN2B):c.3546G>C (p.Gly1182=) | Intellectual disability, autosomal dominant 6 [RCV001504476] | likely benign | 12 | 13563692 | 13563692 | Human | 1 | name |
| 127320499 | CV1156949 | single nucleotide variant | NM_000834.5(GRIN2B):c.959G>C (p.Ser320Thr) | Intellectual disability, autosomal dominant 6 [RCV001522668] | benign | 12 | 13753368 | 13753368 | Human | 1 | name |
| 127295266 | CV1156950 | single nucleotide variant | NM_000834.5(GRIN2B):c.619A>G (p.Met207Val) | Intellectual disability, autosomal dominant 6 [RCV001512099] | benign | 12 | 13753708 | 13753708 | Human | 1 | name |
| 127311628 | CV1156951 | single nucleotide variant | NM_000834.5(GRIN2B):c.598G>C (p.Glu200Gln) | Intellectual disability, autosomal dominant 6 [RCV001518680] | benign | 12 | 13753729 | 13753729 | Human | 1 | name |
| 150415874 | CV1180965 | single nucleotide variant | NM_000834.5(GRIN2B):c.991C>A (p.Gln331Lys) | Inborn genetic diseases [RCV004039292]|Intellectual disability, autosomal dominant 6 [RCV002570682]|not provided [RCV001549336] | likely benign|uncertain significance | 12 | 13753336 | 13753336 | Human | 2 | name |
| 150427023 | CV1187877 | single nucleotide variant | NM_000834.5(GRIN2B):c.764C>T (p.Thr255Met) | Intellectual disability, autosomal dominant 6 [RCV002569011]|not provided [RCV001560366] | likely benign|uncertain significance | 12 | 13753563 | 13753563 | Human | 1 | name |
| 150413623 | CV1191372 | single nucleotide variant | NM_000834.5(GRIN2B):c.811G>A (p.Ala271Thr) | not provided [RCV001567259] | uncertain significance | 12 | 13753516 | 13753516 | Human | | name |
| 150421652 | CV1198340 | single nucleotide variant | NM_000834.5(GRIN2B):c.3000C>T (p.Ile1000=) | Intellectual disability, autosomal dominant 6 [RCV002072276]|not provided [RCV001578128] | likely benign | 12 | 13564238 | 13564238 | Human | 1 | name |
| 150504150 | CV1212625 | single nucleotide variant | NM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=) | Inborn genetic diseases [RCV002458550]|Intellectual disability, autosomal dominant 6 [RCV003771802]|not provided [RCV001595500] | benign|likely benign | 12 | 13563650 | 13563650 | Human | 2 | name |
| 150453253 | CV1275405 | single nucleotide variant | NM_000834.5(GRIN2B):c.718A>G (p.Ile240Val) | Developmental and epileptic encephalopathy, 27 [RCV001706919]|Intellectual disability, autosomal dominant 6 [RCV003771861]|not specified [RCV004526140] | uncertain significance | 12 | 13753609 | 13753609 | Human | 2 | name |
| 150528602 | CV1288400 | single nucleotide variant | NM_000834.5(GRIN2B):c.337G>A (p.Asp113Asn) | Intellectual disability, autosomal dominant 6 [RCV004804228]|not provided [RCV001726868] | uncertain significance | 12 | 13865872 | 13865872 | Human | 1 | name |
| 150550355 | CV1300203 | single nucleotide variant | NM_000834.5(GRIN2B):c.914C>T (p.Ser305Phe) | not provided [RCV001765673] | uncertain significance | 12 | 13753413 | 13753413 | Human | | name |
| 150550218 | CV1302363 | single nucleotide variant | NM_000834.5(GRIN2B):c.976G>A (p.Glu326Lys) | not provided [RCV001752815] | uncertain significance | 12 | 13753351 | 13753351 | Human | | name |
| 8653744 | CV130319 | single nucleotide variant | NM_000834.3(GRIN2B):c.943C>A (p.Pro315Thr) | Lung cancer [RCV000110806] | uncertain significance | 12 | 13753384 | 13753384 | Human | | name |
| 151354099 | CV1327651 | single nucleotide variant | NM_000834.5(GRIN2B):c.3195C>T (p.Thr1065=) | not specified [RCV001817595] | uncertain significance | 12 | 13564043 | 13564043 | Human | | name |
| 8659694 | CV134649 | single nucleotide variant | NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) | Inborn genetic diseases [RCV002312130]|Intellectual disability, autosomal dominant 6 [RCV000460176]|Intellectual disability, autosomal dominant 6 [RCV000603304]|not provided [RCV001531146]|not specified [RCV000186633] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters | 12 | 13563740 | 13563740 | Human | 2 | name |
| 8659695 | CV134650 | single nucleotide variant | NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) | Developmental and epileptic encephalopathy, 27 [RCV001701508]|Inborn genetic diseases [RCV002312131]|Intellectual disability, autosomal dominant 6 [RCV001517087]|Intellectual disability, autosomal dominant 6 [RCV001701754]|not provided [RCV000711874]|not specified [RCV000117197] | benign|likely benign | 12 | 13563704 | 13563704 | Human | 3 | name |
| 151824136 | CV1358890 | single nucleotide variant | NM_000834.5(GRIN2B):c.748A>T (p.Thr250Ser) | Intellectual disability, autosomal dominant 6 [RCV001970671] | uncertain significance | 12 | 13753579 | 13753579 | Human | 1 | name |
| 151831826 | CV1364738 | single nucleotide variant | NM_000834.5(GRIN2B):c.4086C>T (p.His1362=) | Intellectual disability, autosomal dominant 6 [RCV001985848] | likely benign | 12 | 13563152 | 13563152 | Human | 1 | name |
| 8691263 | CV141223 | single nucleotide variant | NM_000834.5(GRIN2B):c.3117C>T (p.Tyr1039=) | Inborn genetic diseases [RCV002312884]|Intellectual disability, autosomal dominant 6 [RCV000655341]|not provided [RCV003390814]|not specified [RCV000125328] | benign|likely benign | 12 | 13564121 | 13564121 | Human | 2 | name |
| 8691264 | CV141224 | single nucleotide variant | NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=) | GRIN2B-related disorder [RCV004530083]|Inborn genetic diseases [RCV002354316]|Intellectual disability, autosomal dominant 6 [RCV000558047]|not provided [RCV001311288]|not specified [RCV000125329] | benign|likely benign|uncertain significance | 12 | 13563431 | 13563431 | Human | 2 | name , alternate_id |
| 151790609 | CV1414738 | single nucleotide variant | NM_000834.5(GRIN2B):c.4035C>T (p.Gly1345=) | Intellectual disability, autosomal dominant 6 [RCV001903217] | benign|uncertain significance | 12 | 13563203 | 13563203 | Human | 1 | name |
| 151717871 | CV1420653 | single nucleotide variant | NM_000834.5(GRIN2B):c.568A>G (p.Ile190Val) | Intellectual disability, autosomal dominant 6 [RCV002027579] | benign|uncertain significance | 12 | 13753759 | 13753759 | Human | 1 | name |
| 151830719 | CV1433592 | single nucleotide variant | NM_000834.5(GRIN2B):c.425T>C (p.Met142Thr) | Intellectual disability, autosomal dominant 6 [RCV001983783] | benign|uncertain significance | 12 | 13753902 | 13753902 | Human | 1 | name |
| 151798129 | CV1487248 | single nucleotide variant | NM_000834.5(GRIN2B):c.378C>G (p.Ile126Met) | Intellectual disability, autosomal dominant 6 [RCV001917356] | uncertain significance | 12 | 13865831 | 13865831 | Human | 1 | name |
| 152147505 | CV1528594 | single nucleotide variant | NM_000834.5(GRIN2B):c.3525C>T (p.Asn1175=) | Intellectual disability, autosomal dominant 6 [RCV002101708] | likely benign | 12 | 13563713 | 13563713 | Human | 1 | name |
| 152143153 | CV1538357 | single nucleotide variant | NM_000834.5(GRIN2B):c.3855G>A (p.Pro1285=) | Intellectual disability, autosomal dominant 6 [RCV002219645] | likely benign | 12 | 13563383 | 13563383 | Human | 1 | name |
| 152046234 | CV1539580 | single nucleotide variant | NM_000834.5(GRIN2B):c.3516C>G (p.Pro1172=) | Intellectual disability, autosomal dominant 6 [RCV002145110] | likely benign | 12 | 13563722 | 13563722 | Human | 1 | name |
| 152065808 | CV1539833 | single nucleotide variant | NM_000834.5(GRIN2B):c.3625C>A (p.Arg1209=) | Intellectual disability, autosomal dominant 6 [RCV002147408] | likely benign | 12 | 13563613 | 13563613 | Human | 1 | name |
| 152150654 | CV1559518 | single nucleotide variant | NM_000834.5(GRIN2B):c.4230G>C (p.Thr1410=) | Intellectual disability, autosomal dominant 6 [RCV002220760] | likely benign | 12 | 13563008 | 13563008 | Human | 1 | name |
| 152138361 | CV1563517 | single nucleotide variant | NM_000834.5(GRIN2B):c.3030C>G (p.Pro1010=) | Intellectual disability, autosomal dominant 6 [RCV002200255] | likely benign | 12 | 13564208 | 13564208 | Human | 1 | name |
| 152093531 | CV1570605 | single nucleotide variant | NM_000834.5(GRIN2B):c.3750C>T (p.Asn1250=) | Intellectual disability, autosomal dominant 6 [RCV002213053] | likely benign | 12 | 13563488 | 13563488 | Human | 1 | name |
| 152037320 | CV1571994 | single nucleotide variant | NM_000834.5(GRIN2B):c.3189C>T (p.Ile1063=) | Intellectual disability, autosomal dominant 6 [RCV002205812] | likely benign | 12 | 13564049 | 13564049 | Human | 1 | name |
| 152098852 | CV1578503 | single nucleotide variant | NM_000834.5(GRIN2B):c.3159C>T (p.Asp1053=) | Intellectual disability, autosomal dominant 6 [RCV002151554] | likely benign | 12 | 13564079 | 13564079 | Human | 1 | name |
| 152096094 | CV1586799 | single nucleotide variant | NM_000834.5(GRIN2B):c.3912C>T (p.Tyr1304=) | Intellectual disability, autosomal dominant 6 [RCV002078368] | likely benign | 12 | 13563326 | 13563326 | Human | 1 | name |
| 152088853 | CV1603309 | single nucleotide variant | NM_000834.5(GRIN2B):c.3678C>A (p.Ser1226=) | Intellectual disability, autosomal dominant 6 [RCV002077429] | likely benign | 12 | 13563560 | 13563560 | Human | 1 | name |
| 152137187 | CV1608926 | single nucleotide variant | NM_000834.5(GRIN2B):c.3906C>T (p.His1302=) | Intellectual disability, autosomal dominant 6 [RCV002119862] | likely benign | 12 | 13563332 | 13563332 | Human | 1 | name |
| 152080921 | CV1623160 | single nucleotide variant | NM_000834.5(GRIN2B):c.3561C>T (p.His1187=) | Intellectual disability, autosomal dominant 6 [RCV002170524] | likely benign | 12 | 13563677 | 13563677 | Human | 1 | name |
| 152132615 | CV1630231 | single nucleotide variant | NM_000834.5(GRIN2B):c.631G>A (p.Asp211Asn) | Intellectual disability, autosomal dominant 6 [RCV002177001] | likely benign | 12 | 13753696 | 13753696 | Human | 1 | name |
| 152150008 | CV1636066 | single nucleotide variant | NM_000834.5(GRIN2B):c.3798G>T (p.Pro1266=) | Intellectual disability, autosomal dominant 6 [RCV002102086] | likely benign | 12 | 13563440 | 13563440 | Human | 1 | name |
| 152088753 | CV1638963 | single nucleotide variant | NM_000834.5(GRIN2B):c.4038G>A (p.Glu1346=) | Intellectual disability, autosomal dominant 6 [RCV002150309] | likely benign | 12 | 13563200 | 13563200 | Human | 1 | name |
| 152028310 | CV1642739 | single nucleotide variant | NM_000834.5(GRIN2B):c.4314G>A (p.Val1438=) | Intellectual disability, autosomal dominant 6 [RCV002185793] | likely benign | 12 | 13562924 | 13562924 | Human | 1 | name |
| 152114202 | CV1651113 | single nucleotide variant | NM_000834.5(GRIN2B):c.3180C>T (p.Val1060=) | Intellectual disability, autosomal dominant 6 [RCV002153446] | likely benign | 12 | 13564058 | 13564058 | Human | 1 | name |
| 152058609 | CV1652052 | single nucleotide variant | NM_000834.5(GRIN2B):c.3780G>C (p.Leu1260=) | Intellectual disability, autosomal dominant 6 [RCV002190260] | likely benign | 12 | 13563458 | 13563458 | Human | 1 | name |
| 152053268 | CV1659300 | single nucleotide variant | NM_000834.5(GRIN2B):c.4071C>T (p.Pro1357=) | Intellectual disability, autosomal dominant 6 [RCV002189669] | likely benign | 12 | 13563167 | 13563167 | Human | 1 | name |
| 152099344 | CV1663951 | single nucleotide variant | NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser) | Intellectual disability, autosomal dominant 6 [RCV002078783]|not specified [RCV003987975] | benign|uncertain significance | 12 | 13753329 | 13753329 | Human | 1 | name |
| 153304478 | CV1687093 | single nucleotide variant | NM_000834.5(GRIN2B):c.3588T>A (p.Pro1196=) | not provided [RCV002262381] | likely benign | 12 | 13563650 | 13563650 | Human | | name |
| 155741927 | CV1791191 | single nucleotide variant | NM_000834.5(GRIN2B):c.4380A>G (p.Lys1460=) | Inborn genetic diseases [RCV002333577] | likely benign | 12 | 13562858 | 13562858 | Human | 1 | name |
| 155710870 | CV1795103 | single nucleotide variant | NM_000834.5(GRIN2B):c.3252A>G (p.Gln1084=) | Inborn genetic diseases [RCV002324898] | likely benign | 12 | 13563986 | 13563986 | Human | 1 | name |
| 155671954 | CV1796603 | single nucleotide variant | NM_000834.5(GRIN2B):c.3778C>T (p.Leu1260=) | Inborn genetic diseases [RCV002351117] | likely benign | 12 | 13563460 | 13563460 | Human | 1 | name |
| 155697432 | CV1820452 | single nucleotide variant | NM_000834.5(GRIN2B):c.817T>G (p.Phe273Val) | Inborn genetic diseases [RCV002427812] | uncertain significance | 12 | 13753510 | 13753510 | Human | 1 | name |
| 155977230 | CV1886133 | single nucleotide variant | NM_000834.5(GRIN2B):c.4236G>A (p.Ala1412=) | Intellectual disability, autosomal dominant 6 [RCV003075475] | likely benign | 12 | 13563002 | 13563002 | Human | 1 | name |
| 156195944 | CV1889623 | single nucleotide variant | NM_000834.5(GRIN2B):c.877G>A (p.Val293Met) | Intellectual disability, autosomal dominant 6 [RCV003084034]|not provided [RCV004765664] | uncertain significance | 12 | 13753450 | 13753450 | Human | 1 | name |
| 156031522 | CV1893675 | single nucleotide variant | NM_000834.5(GRIN2B):c.3309C>T (p.Asp1103=) | Intellectual disability, autosomal dominant 6 [RCV003078125] | likely benign | 12 | 13563929 | 13563929 | Human | 1 | name |
| 156139168 | CV1898413 | single nucleotide variant | NM_000834.5(GRIN2B):c.4053C>T (p.Asn1351=) | Intellectual disability, autosomal dominant 6 [RCV003082136] | likely benign | 12 | 13563185 | 13563185 | Human | 1 | name |
| 156441908 | CV1941562 | single nucleotide variant | NM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe) | Intellectual disability, autosomal dominant 6 [RCV003112242]|not provided [RCV003738362] | likely benign|uncertain significance | 12 | 13753704 | 13753704 | Human | 1 | name |
| 156276836 | CV1954729 | single nucleotide variant | NM_000834.5(GRIN2B):c.3873G>A (p.Gln1291=) | Intellectual disability, autosomal dominant 6 [RCV002577352] | likely benign | 12 | 13563365 | 13563365 | Human | 1 | name |
| 156324251 | CV1972568 | single nucleotide variant | NM_000834.5(GRIN2B):c.992A>C (p.Gln331Pro) | Inborn genetic diseases [RCV002600428]|Intellectual disability, autosomal dominant 6 [RCV002587568] | uncertain significance | 12 | 13753335 | 13753335 | Human | 2 | name |
| 156419522 | CV1977317 | single nucleotide variant | NM_000834.5(GRIN2B):c.3201C>A (p.Thr1067=) | GRIN2B-related disorder [RCV004545349]|Intellectual disability, autosomal dominant 6 [RCV002612759] | likely benign | 12 | 13564037 | 13564037 | Human | 1 | name , alternate_id |
| 156350563 | CV1978312 | single nucleotide variant | NM_000834.5(GRIN2B):c.973C>T (p.His325Tyr) | Intellectual disability, autosomal dominant 6 [RCV002601793] | uncertain significance | 12 | 13753354 | 13753354 | Human | 1 | name |
| 156396249 | CV1985175 | single nucleotide variant | NM_000834.5(GRIN2B):c.3717C>T (p.Cys1239=) | Intellectual disability, autosomal dominant 6 [RCV002635508] | likely benign | 12 | 13563521 | 13563521 | Human | 1 | name |
| 156245083 | CV1992729 | single nucleotide variant | NM_000834.5(GRIN2B):c.3978C>T (p.Asp1326=) | Intellectual disability, autosomal dominant 6 [RCV002627265] | likely benign | 12 | 13563260 | 13563260 | Human | 1 | name |
| 156116189 | CV2016949 | single nucleotide variant | NM_000834.5(GRIN2B):c.3459C>T (p.Asp1153=) | Intellectual disability, autosomal dominant 6 [RCV002740022] | likely benign | 12 | 13563779 | 13563779 | Human | 1 | name |
| 10396114 | CV202656 | single nucleotide variant | NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) | GRIN2B-related disorder [RCV004539740]|Inborn genetic diseases [RCV002314721]|Intellectual disability, autosomal dominant 6 [RCV000467185]|not provided [RCV001721198]|not specified [RCV000187707] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13563491 | 13563491 | Human | 2 | name , alternate_id |
| 10396105 | CV202658 | single nucleotide variant | NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) | GRIN2B-related disorder [RCV004734831]|Inborn genetic diseases [RCV002311272]|Intellectual disability, autosomal dominant 6 [RCV001081012]|not provided [RCV000711875]|not specified [RCV000187690] | benign|likely benign|uncertain significance | 12 | 13563686 | 13563686 | Human | 2 | name , alternate_id |
| 10397606 | CV202666 | deletion | NM_000834.5(GRIN2B):c.2589del (p.Ile864fs) | Intellectual disability, autosomal dominant 6 [RCV001172359]|not provided [RCV000187708] | pathogenic|likely pathogenic|uncertain significance | 12 | 13567034 | 13567034 | Human | 1 | name |
| 10396103 | CV202674 | single nucleotide variant | NM_000834.5(GRIN2B):c.812C>A (p.Ala271Glu) | Intellectual disability, autosomal dominant 6 [RCV001852458]|not provided [RCV001721197] | benign|likely benign|uncertain significance | 12 | 13753515 | 13753515 | Human | 1 | name |
| 10397598 | CV202675 | single nucleotide variant | NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val) | Intellectual disability, autosomal dominant 6 [RCV001172347]|Intellectual disability, autosomal dominant 6 [RCV001852459] | likely pathogenic|uncertain significance | 12 | 13753879 | 13753879 | Human | 1 | name |
| 156028604 | CV2052111 | single nucleotide variant | NM_000834.5(GRIN2B):c.4155C>T (p.Asn1385=) | Intellectual disability, autosomal dominant 6 [RCV002820962] | likely benign | 12 | 13563083 | 13563083 | Human | 1 | name |
| 155940264 | CV2054902 | single nucleotide variant | NM_000834.5(GRIN2B):c.3723G>T (p.Arg1241=) | Intellectual disability, autosomal dominant 6 [RCV002815646] | likely benign | 12 | 13563515 | 13563515 | Human | 1 | name |
| 10403878 | CV207944 | single nucleotide variant | NM_000834.5(GRIN2B):c.4077C>T (p.Ala1359=) | Intellectual disability, autosomal dominant 6 [RCV002517080]|not specified [RCV000193623] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13563161 | 13563161 | Human | 1 | name |
| 156072821 | CV2102033 | single nucleotide variant | NM_000834.5(GRIN2B):c.3759C>T (p.Asp1253=) | Intellectual disability, autosomal dominant 6 [RCV002912439]|not provided [RCV003389911] | likely benign | 12 | 13563479 | 13563479 | Human | 1 | name |
| 156039265 | CV2121334 | single nucleotide variant | NM_000834.5(GRIN2B):c.4209C>G (p.Ser1403=) | Intellectual disability, autosomal dominant 6 [RCV002923848] | likely benign | 12 | 13563029 | 13563029 | Human | 1 | name |
| 155952934 | CV2123629 | single nucleotide variant | NM_000834.5(GRIN2B):c.511A>G (p.Ile171Val) | Intellectual disability, autosomal dominant 6 [RCV002971963] | benign | 12 | 13753816 | 13753816 | Human | 1 | name |
| 156114460 | CV2136350 | single nucleotide variant | NM_000834.5(GRIN2B):c.4107C>G (p.Gly1369=) | Intellectual disability, autosomal dominant 6 [RCV003002728] | likely benign | 12 | 13563131 | 13563131 | Human | 1 | name |
| 156115135 | CV2136384 | single nucleotide variant | NM_000834.5(GRIN2B):c.313C>G (p.Gln105Glu) | Intellectual disability, autosomal dominant 6 [RCV003002754] | benign|uncertain significance | 12 | 13865896 | 13865896 | Human | 1 | name |
| 156312475 | CV2143765 | single nucleotide variant | NM_000834.5(GRIN2B):c.4158T>C (p.Pro1386=) | Intellectual disability, autosomal dominant 6 [RCV003011194] | likely benign | 12 | 13563080 | 13563080 | Human | 1 | name |
| 156166905 | CV2169674 | single nucleotide variant | NM_000834.5(GRIN2B):c.3495C>T (p.Asp1165=) | Intellectual disability, autosomal dominant 6 [RCV003023394] | likely benign | 12 | 13563743 | 13563743 | Human | 1 | name |
| 156111081 | CV2177370 | single nucleotide variant | NM_000834.5(GRIN2B):c.3120C>T (p.Gly1040=) | Intellectual disability, autosomal dominant 6 [RCV003055093] | likely benign | 12 | 13564118 | 13564118 | Human | 1 | name |
| 156371298 | CV2188716 | single nucleotide variant | NM_000834.5(GRIN2B):c.3714G>A (p.Ala1238=) | Intellectual disability, autosomal dominant 6 [RCV003066306] | likely benign | 12 | 13563524 | 13563524 | Human | 1 | name |
| 156264764 | CV2312131 | single nucleotide variant | NM_000834.5(GRIN2B):c.845A>G (p.Tyr282Cys) | GRIN2B-related disorder [RCV004538871]|Inborn genetic diseases [RCV002920729] | likely pathogenic|uncertain significance | 12 | 13753482 | 13753482 | Human | 2 | name , alternate_id |
| 11089932 | CV231845 | single nucleotide variant | NM_000834.5(GRIN2B):c.471G>C (p.Met157Ile) | not provided [RCV000215426] | uncertain significance | 12 | 13753856 | 13753856 | Human | | name |
| 156439957 | CV2401641 | single nucleotide variant | NM_000834.5(GRIN2B):c.512T>A (p.Ile171Asn) | not provided [RCV003109929] | uncertain significance | 12 | 13753815 | 13753815 | Human | | name |
| 156435203 | CV2403450 | insertion | NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs) | Autism spectrum disorder [RCV003127386] | pathogenic | 12 | 13866185 | 13866186 | Human | 2 | name |
| 243060022 | CV2412802 | single nucleotide variant | NM_000834.5(GRIN2B):c.805G>C (p.Val269Leu) | not provided [RCV003135471] | uncertain significance | 12 | 13753522 | 13753522 | Human | | name |
| 243052661 | CV2412804 | single nucleotide variant | NM_000834.5(GRIN2B):c.544T>G (p.Phe182Val) | not provided [RCV003131075] | uncertain significance | 12 | 13753783 | 13753783 | Human | | name |
| 243052673 | CV2412808 | single nucleotide variant | NM_000834.5(GRIN2B):c.857A>G (p.Asp286Gly) | not provided [RCV003131077] | uncertain significance | 12 | 13753470 | 13753470 | Human | | name |
| 11346527 | CV241528 | single nucleotide variant | NM_000834.5(GRIN2B):c.3174C>T (p.Ser1058=) | Inborn genetic diseases [RCV002315688]|Intellectual disability, autosomal dominant 6 [RCV000228806]|not provided [RCV001705247] | likely pathogenic|benign|likely benign|uncertain significance | 12 | 13564064 | 13564064 | Human | 2 | name |
| 243052296 | CV2417818 | deletion | NM_000834.5(GRIN2B):c.2591del (p.Ile864fs) | Intellectual disability, autosomal dominant 6 [RCV003152882] | likely pathogenic | 12 | 13567032 | 13567032 | Human | 1 | name |
| 11523484 | CV244771 | single nucleotide variant | NM_000834.5(GRIN2B):c.4413G>A (p.Gly1471=) | Intellectual disability, autosomal dominant 6 [RCV001480366]|not specified [RCV000236015] | likely benign | 12 | 13562825 | 13562825 | Human | 1 | name |
| 11523975 | CV244773 | single nucleotide variant | NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=) | Inborn genetic diseases [RCV002317775]|Intellectual disability, autosomal dominant 6 [RCV000866000]|not provided [RCV003736669]|not specified [RCV000236839] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 13562927 | 13562927 | Human | 2 | name |
| 11523803 | CV244777 | single nucleotide variant | NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=) | Inborn genetic diseases [RCV002313964]|Intellectual disability, autosomal dominant 6 [RCV001082751]|not provided [RCV000711877]|not specified [RCV000236501] | benign|likely benign|uncertain significance | 12 | 13563125 | 13563125 | Human | 2 | name |
| 11523411 | CV244778 | single nucleotide variant | NM_000834.5(GRIN2B):c.3945C>T (p.Ala1315=) | Inborn genetic diseases [RCV002317777]|Intellectual disability, autosomal dominant 6 [RCV000876458]|not provided [RCV001705311] | likely benign | 12 | 13563293 | 13563293 | Human | 2 | name |
| 11523156 | CV244782 | single nucleotide variant | NM_000834.5(GRIN2B):c.3660C>G (p.Ser1220=) | Intellectual disability, autosomal dominant 6 [RCV000908327]|not specified [RCV000235443] | benign|likely benign | 12 | 13563578 | 13563578 | Human | 1 | name |
| 11523800 | CV244784 | single nucleotide variant | NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=) | GRIN2B-related disorder [RCV004725123]|Intellectual disability, autosomal dominant 6 [RCV001451933]|not provided [RCV000236468] | benign|likely benign | 12 | 13563689 | 13563689 | Human | 1 | name , alternate_id |
| 11523370 | CV244786 | single nucleotide variant | NM_000834.5(GRIN2B):c.3456C>A (p.Thr1152=) | Intellectual disability, autosomal dominant 6 [RCV002519823]|not specified [RCV000235737] | likely benign | 12 | 13563782 | 13563782 | Human | 1 | name |
| 11523455 | CV244788 | single nucleotide variant | NM_000834.5(GRIN2B):c.3339G>A (p.Pro1113=) | Intellectual disability, autosomal dominant 6 [RCV001409075]|not provided [RCV000544732] | likely benign | 12 | 13563899 | 13563899 | Human | 1 | name |
| 11523157 | CV244789 | single nucleotide variant | NM_000834.5(GRIN2B):c.3195C>A (p.Thr1065=) | not specified [RCV000235444] | likely benign | 12 | 13564043 | 13564043 | Human | | name |
| 11523319 | CV244812 | single nucleotide variant | NM_000834.5(GRIN2B):c.377T>C (p.Ile126Thr) | not specified [RCV000235741] | uncertain significance | 12 | 13865832 | 13865832 | Human | | name |
| 11523326 | CV244814 | single nucleotide variant | NM_000834.5(GRIN2B):c.325G>T (p.Ala109Ser) | Intellectual disability, autosomal dominant 6 [RCV001033993]|not provided [RCV000235573] | likely benign|uncertain significance | 12 | 13865884 | 13865884 | Human | 1 | name |
| 329350555 | CV2477382 | single nucleotide variant | NM_000834.5(GRIN2B):c.392C>T (p.Ser131Phe) | Inborn genetic diseases [RCV004634239]|Intellectual disability, autosomal dominant 6 [RCV003779797]|not provided [RCV003221707] | likely benign|uncertain significance | 12 | 13865817 | 13865817 | Human | 2 | name |
| 401742061 | CV2738891 | single nucleotide variant | NM_000834.5(GRIN2B):c.983G>T (p.Arg328Ile) | not provided [RCV003318285] | uncertain significance | 12 | 13753344 | 13753344 | Human | | name |
| 401796879 | CV2739854 | single nucleotide variant | NM_000834.5(GRIN2B):c.969C>A (p.Asn323Lys) | not provided [RCV003319815] | uncertain significance | 12 | 13753358 | 13753358 | Human | | name |
| 401872038 | CV2749624 | single nucleotide variant | NM_000834.5(GRIN2B):c.3834C>A (p.Thr1278=) | not provided [RCV003332752] | uncertain significance | 12 | 13563404 | 13563404 | Human | | name |
| 401905982 | CV2810224 | single nucleotide variant | NM_000834.5(GRIN2B):c.3099C>T (p.Ser1033=) | not provided [RCV003396249] | likely benign | 12 | 13564139 | 13564139 | Human | | name |
| 404979668 | CV2850198 | single nucleotide variant | NM_000834.5(GRIN2B):c.3372G>A (p.Arg1124=) | not provided [RCV003487885] | uncertain significance | 12 | 13563866 | 13563866 | Human | | name |
| 402476443 | CV2850199 | single nucleotide variant | NM_000834.5(GRIN2B):c.4299C>T (p.Ala1433=) | Intellectual disability, autosomal dominant 6 [RCV003779246]|not provided [RCV003487886] | likely benign|uncertain significance | 12 | 13562939 | 13562939 | Human | 1 | name |
| 405022155 | CV3081805 | single nucleotide variant | NM_000834.5(GRIN2B):c.370C>G (p.Leu124Val) | Intellectual disability, autosomal dominant 6 [RCV003785411] | benign|uncertain significance | 12 | 13865839 | 13865839 | Human | 1 | name |
| 405026019 | CV3082137 | single nucleotide variant | NM_000834.5(GRIN2B):c.3951G>C (p.Leu1317=) | Intellectual disability, autosomal dominant 6 [RCV003785745] | likely benign | 12 | 13563287 | 13563287 | Human | 1 | name |
| 405008624 | CV3083199 | single nucleotide variant | NM_000834.5(GRIN2B):c.4254G>A (p.Arg1418=) | Intellectual disability, autosomal dominant 6 [RCV003784146] | likely benign | 12 | 13562984 | 13562984 | Human | 1 | name |
| 405051021 | CV3084644 | single nucleotide variant | NM_000834.5(GRIN2B):c.3393C>T (p.Asp1131=) | Intellectual disability, autosomal dominant 6 [RCV003798051] | likely benign | 12 | 13563845 | 13563845 | Human | 1 | name |
| 404997344 | CV3085473 | single nucleotide variant | NM_000834.5(GRIN2B):c.511A>T (p.Ile171Phe) | Intellectual disability, autosomal dominant 6 [RCV003783004] | likely benign|uncertain significance | 12 | 13753816 | 13753816 | Human | 1 | name |
| 405003191 | CV3086473 | single nucleotide variant | NM_000834.5(GRIN2B):c.3177T>C (p.Asp1059=) | Intellectual disability, autosomal dominant 6 [RCV003783687] | likely benign | 12 | 13564061 | 13564061 | Human | 1 | name |
| 402516539 | CV3087732 | single nucleotide variant | NM_000834.5(GRIN2B):c.4140C>T (p.Asp1380=) | Intellectual disability, autosomal dominant 6 [RCV003790083] | likely benign | 12 | 13563098 | 13563098 | Human | 1 | name |
| 402512563 | CV3089369 | single nucleotide variant | NM_000834.5(GRIN2B):c.731C>T (p.Ala244Val) | Intellectual disability, autosomal dominant 6 [RCV003780401] | uncertain significance | 12 | 13753596 | 13753596 | Human | 1 | name |
| 402506200 | CV3090369 | single nucleotide variant | NM_000834.5(GRIN2B):c.3075C>T (p.Ile1025=) | Intellectual disability, autosomal dominant 6 [RCV003789138] | likely benign | 12 | 13564163 | 13564163 | Human | 1 | name |
| 402499648 | CV3092974 | single nucleotide variant | NM_000834.5(GRIN2B):c.3564C>T (p.Gly1188=) | Intellectual disability, autosomal dominant 6 [RCV003788438] | likely benign | 12 | 13563674 | 13563674 | Human | 1 | name |
| 405015787 | CV3093943 | single nucleotide variant | NM_000834.5(GRIN2B):c.418T>A (p.Ser140Thr) | Intellectual disability, autosomal dominant 6 [RCV003784793] | uncertain significance | 12 | 13753909 | 13753909 | Human | 1 | name |
| 405016140 | CV3093980 | single nucleotide variant | NM_000834.5(GRIN2B):c.3522C>A (p.Thr1174=) | Intellectual disability, autosomal dominant 6 [RCV003784830] | likely benign | 12 | 13563716 | 13563716 | Human | 1 | name |
| 405017455 | CV3094114 | single nucleotide variant | NM_000834.5(GRIN2B):c.3963C>T (p.Ser1321=) | Intellectual disability, autosomal dominant 6 [RCV003784964] | likely benign | 12 | 13563275 | 13563275 | Human | 1 | name |
| 405018716 | CV3094416 | single nucleotide variant | NM_000834.5(GRIN2B):c.3883C>A (p.Arg1295=) | Intellectual disability, autosomal dominant 6 [RCV003785106] | likely benign | 12 | 13563355 | 13563355 | Human | 1 | name |
| 405003003 | CV3095639 | single nucleotide variant | NM_000834.5(GRIN2B):c.3114G>C (p.Leu1038=) | Intellectual disability, autosomal dominant 6 [RCV003793944] | likely benign | 12 | 13564124 | 13564124 | Human | 1 | name |
| 405008033 | CV3096231 | single nucleotide variant | NM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile) | Intellectual disability, autosomal dominant 6 [RCV003794381] | benign | 12 | 13865847 | 13865847 | Human | 1 | name |
| 404978719 | CV3099094 | single nucleotide variant | NM_000834.5(GRIN2B):c.3006G>A (p.Gly1002=) | Intellectual disability, autosomal dominant 6 [RCV003791074] | likely benign | 12 | 13564232 | 13564232 | Human | 1 | name |
| 404979871 | CV3099493 | single nucleotide variant | NM_000834.5(GRIN2B):c.533G>A (p.Gly178Asp) | Intellectual disability, autosomal dominant 6 [RCV003791321] | likely benign|uncertain significance | 12 | 13753794 | 13753794 | Human | 1 | name |
| 404982874 | CV3100153 | single nucleotide variant | NM_000834.5(GRIN2B):c.3231C>A (p.Ala1077=) | Intellectual disability, autosomal dominant 6 [RCV003791820] | likely benign | 12 | 13564007 | 13564007 | Human | 1 | name |
| 405074495 | CV3100199 | single nucleotide variant | NM_000834.5(GRIN2B):c.3318G>A (p.Glu1106=) | Intellectual disability, autosomal dominant 6 [RCV003799752] | likely benign | 12 | 13563920 | 13563920 | Human | 1 | name |
| 405019182 | CV3100931 | single nucleotide variant | NM_000834.5(GRIN2B):c.862G>C (p.Gly288Arg) | Intellectual disability, autosomal dominant 6 [RCV003805679] | uncertain significance | 12 | 13753465 | 13753465 | Human | 1 | name |
| 405176108 | CV3101128 | single nucleotide variant | NM_000834.5(GRIN2B):c.478A>T (p.Ile160Phe) | Intellectual disability, autosomal dominant 6 [RCV003803515] | uncertain significance | 12 | 13753849 | 13753849 | Human | 1 | name |
| 405065312 | CV3103049 | single nucleotide variant | NM_000834.5(GRIN2B):c.3096C>T (p.His1032=) | Intellectual disability, autosomal dominant 6 [RCV003799040] | likely benign | 12 | 13564142 | 13564142 | Human | 1 | name |
| 405040076 | CV3103335 | single nucleotide variant | NM_000834.5(GRIN2B):c.4305T>C (p.His1435=) | Intellectual disability, autosomal dominant 6 [RCV003797213] | likely benign | 12 | 13562933 | 13562933 | Human | 1 | name |
| 405068793 | CV3103555 | single nucleotide variant | NM_000834.5(GRIN2B):c.4326C>T (p.Phe1442=) | Intellectual disability, autosomal dominant 6 [RCV003799385] | likely benign | 12 | 13562912 | 13562912 | Human | 1 | name |
| 405171413 | CV3104382 | single nucleotide variant | NM_000834.5(GRIN2B):c.4141C>A (p.Arg1381=) | Intellectual disability, autosomal dominant 6 [RCV003803059] | likely benign | 12 | 13563097 | 13563097 | Human | 1 | name |
| 405034396 | CV3106055 | single nucleotide variant | NM_000834.5(GRIN2B):c.3546G>A (p.Gly1182=) | Intellectual disability, autosomal dominant 6 [RCV003796745] | likely benign | 12 | 13563692 | 13563692 | Human | 1 | name |
| 405080612 | CV3107333 | single nucleotide variant | NM_000834.5(GRIN2B):c.3255T>C (p.Tyr1085=) | Intellectual disability, autosomal dominant 6 [RCV003800203] | likely benign | 12 | 13563983 | 13563983 | Human | 1 | name |
| 405110013 | CV3110546 | single nucleotide variant | NM_000834.5(GRIN2B):c.397A>G (p.Ile133Val) | Intellectual disability, autosomal dominant 6 [RCV003813449] | uncertain significance | 12 | 13865812 | 13865812 | Human | 1 | name |
| 405154873 | CV3111260 | single nucleotide variant | NM_000834.5(GRIN2B):c.544T>C (p.Phe182Leu) | Intellectual disability, autosomal dominant 6 [RCV003801716] | likely benign|uncertain significance | 12 | 13753783 | 13753783 | Human | 1 | name |
| 405071800 | CV3111433 | single nucleotide variant | NM_000834.5(GRIN2B):c.3630C>T (p.Ser1210=) | Intellectual disability, autosomal dominant 6 [RCV003809772] | likely benign | 12 | 13563608 | 13563608 | Human | 1 | name |
| 405071985 | CV3111446 | single nucleotide variant | NM_000834.5(GRIN2B):c.856G>C (p.Asp286His) | Intellectual disability, autosomal dominant 6 [RCV003809785] | benign | 12 | 13753471 | 13753471 | Human | 1 | name |
| 405105204 | CV3113182 | single nucleotide variant | NM_000834.5(GRIN2B):c.4023G>A (p.Glu1341=) | Intellectual disability, autosomal dominant 6 [RCV003812473] | likely benign | 12 | 13563215 | 13563215 | Human | 1 | name |
| 405106664 | CV3113433 | single nucleotide variant | NM_000834.5(GRIN2B):c.4329G>A (p.Gln1443=) | Intellectual disability, autosomal dominant 6 [RCV003812725] | likely benign | 12 | 13562909 | 13562909 | Human | 1 | name |
| 405081599 | CV3113473 | single nucleotide variant | NM_000834.5(GRIN2B):c.476A>G (p.Asn159Ser) | Intellectual disability, autosomal dominant 6 [RCV003810490] | uncertain significance | 12 | 13753851 | 13753851 | Human | 1 | name |
| 405081690 | CV3113480 | single nucleotide variant | NM_000834.5(GRIN2B):c.689T>C (p.Leu230Pro) | Intellectual disability, autosomal dominant 6 [RCV003810497] | uncertain significance | 12 | 13753638 | 13753638 | Human | 1 | name |
| 405013479 | CV3114256 | single nucleotide variant | NM_000834.5(GRIN2B):c.3970C>T (p.Leu1324=) | Intellectual disability, autosomal dominant 6 [RCV003805110] | likely benign | 12 | 13563268 | 13563268 | Human | 1 | name |
| 11610666 | CV316409 | single nucleotide variant | NM_000834.5(GRIN2B):c.4215C>T (p.Phe1405=) | Intellectual disability, autosomal dominant 6 [RCV001396698]|not provided [RCV004705240] | likely benign|uncertain significance | 12 | 13563023 | 13563023 | Human | 1 | name |
| 405291127 | CV3222085 | single nucleotide variant | NM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg) | Intellectual disability, autosomal dominant 6 [RCV003984904] | uncertain significance | 12 | 13753633 | 13753633 | Human | 1 | name |
| 405706842 | CV3225297 | deletion | NM_000834.5(GRIN2B):c.2823del (p.Phe941fs) | Intellectual disability, autosomal dominant 6 [RCV003990351] | likely pathogenic | 12 | 13564415 | 13564415 | Human | 1 | name |
| 11606714 | CV323834 | single nucleotide variant | NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=) | Inborn genetic diseases [RCV002317830]|Intellectual disability, autosomal dominant 6 [RCV001080276]|not provided [RCV000477584] | benign|likely benign|uncertain significance | 12 | 13563401 | 13563401 | Human | 2 | name |
| 11611133 | CV323836 | single nucleotide variant | NM_000834.5(GRIN2B):c.3825C>T (p.Asn1275=) | Intellectual disability, autosomal dominant 6 [RCV003783553] | likely benign|uncertain significance | 12 | 13563413 | 13563413 | Human | 1 | name |
| 11615876 | CV329920 | single nucleotide variant | NM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=) | Intellectual disability, autosomal dominant 6 [RCV002056280] | benign|uncertain significance | 12 | 13563008 | 13563008 | Human | 1 | name |
| 405853733 | CV3395164 | single nucleotide variant | NM_000834.5(GRIN2B):c.509C>T (p.Ser170Phe) | Intellectual disability, autosomal dominant 6 [RCV004555306] | likely pathogenic | 12 | 13753818 | 13753818 | Human | 1 | name |
| 407427711 | CV3412010 | duplication | NM_000834.5(GRIN2B):c.98_99dup (p.Ser34fs) | not provided [RCV004592181] | pathogenic | 12 | 13866109 | 13866110 | Human | | name |
| 407427869 | CV3412167 | single nucleotide variant | NM_000834.5(GRIN2B):c.980A>G (p.Lys327Arg) | not provided [RCV004592338] | uncertain significance | 12 | 13753347 | 13753347 | Human | | name |
| 408368979 | CV3502710 | single nucleotide variant | NM_000834.5(GRIN2B):c.641C>T (p.Ser214Phe) | not provided [RCV004723831] | uncertain significance | 12 | 13753686 | 13753686 | Human | | name |
| 408385440 | CV3520136 | single nucleotide variant | NM_000834.5(GRIN2B):c.333C>G (p.Ile111Met) | not provided [RCV004759957] | uncertain significance | 12 | 13865876 | 13865876 | Human | | name |
| 408384221 | CV3526890 | single nucleotide variant | NM_000834.5(GRIN2B):c.4335C>T (p.Asp1445=) | not provided [RCV004772203] | uncertain significance | 12 | 13562903 | 13562903 | Human | | name |
| 596920858 | CV3534339 | single nucleotide variant | NM_000834.5(GRIN2B):c.565A>G (p.Thr189Ala) | not specified [RCV004783558] | uncertain significance | 12 | 13753762 | 13753762 | Human | | name |
| 596926945 | CV3536403 | deletion | NM_000834.5(GRIN2B):c.1147del (p.Ser383fs) | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder [RCV004789811] | pathogenic | 12 | 13616636 | 13616636 | Human | 1 | name |
| 596944332 | CV3543145 | deletion | NM_000834.5(GRIN2B):c.1577del (p.Ser526fs) | Developmental and epileptic encephalopathy, 27 [RCV004799017] | pathogenic | 12 | 13615191 | 13615191 | Human | 1 | name |
| 596946571 | CV3548395 | single nucleotide variant | NM_000834.5(GRIN2B):c.3813G>A (p.Ala1271=) | not provided [RCV004810221] | likely benign | 12 | 13563425 | 13563425 | Human | | name |
| 12841902 | CV372131 | single nucleotide variant | NM_000834.5(GRIN2B):c.4179C>T (p.Asp1393=) | Intellectual disability, autosomal dominant 6 [RCV002061404]|not specified [RCV000433414] | likely benign | 12 | 13563059 | 13563059 | Human | 1 | name |
| 12842225 | CV372852 | single nucleotide variant | NM_000834.5(GRIN2B):c.4410T>C (p.Asn1470=) | Inborn genetic diseases [RCV004629215]|Intellectual disability, autosomal dominant 6 [RCV001505820]|not provided [RCV000952037] | likely benign | 12 | 13562828 | 13562828 | Human | 2 | name |
| 12847486 | CV372856 | single nucleotide variant | NM_000834.5(GRIN2B):c.4287G>A (p.Pro1429=) | Intellectual disability, autosomal dominant 6 [RCV002062312]|not provided [RCV000865237] | likely benign | 12 | 13562951 | 13562951 | Human | 1 | name |
| 12842521 | CV374861 | single nucleotide variant | NM_000834.5(GRIN2B):c.4014C>T (p.His1338=) | Intellectual disability, autosomal dominant 6 [RCV000871894]|not specified [RCV000434572] | likely benign | 12 | 13563224 | 13563224 | Human | 1 | name |
| 12835945 | CV374866 | single nucleotide variant | NM_000834.5(GRIN2B):c.3751C>T (p.Leu1251=) | Intellectual disability, autosomal dominant 6 [RCV001470749]|not specified [RCV000422556] | likely benign | 12 | 13563487 | 13563487 | Human | 1 | name |
| 12842210 | CV374876 | single nucleotide variant | NM_000834.5(GRIN2B):c.812C>T (p.Ala271Val) | GRIN2B-related disorder [RCV004530536]|Inborn genetic diseases [RCV002318388]|Intellectual disability, autosomal dominant 6 [RCV001398757]|not provided [RCV001712192] | benign|likely benign | 12 | 13753515 | 13753515 | Human | 2 | name , alternate_id |
| 597857522 | CV3864681 | single nucleotide variant | NM_000834.5(GRIN2B):c.4239G>T (p.Gly1413=) | Intellectual disability, autosomal dominant 6 [RCV005213737] | likely benign | 12 | 13562999 | 13562999 | Human | 1 | name |
| 597870121 | CV3866250 | single nucleotide variant | NM_000834.5(GRIN2B):c.4416T>C (p.His1472=) | Intellectual disability, autosomal dominant 6 [RCV005215591] | likely benign | 12 | 13562822 | 13562822 | Human | 1 | name |
| 597868538 | CV3869373 | single nucleotide variant | NM_000834.5(GRIN2B):c.3822A>T (p.Ser1274=) | Intellectual disability, autosomal dominant 6 [RCV005215303] | likely benign | 12 | 13563416 | 13563416 | Human | 1 | name |
| 597840326 | CV3873497 | single nucleotide variant | NM_000834.5(GRIN2B):c.3768G>A (p.Glu1256=) | Intellectual disability, autosomal dominant 6 [RCV005226324] | likely benign | 12 | 13563470 | 13563470 | Human | 1 | name |
| 597927935 | CV3874198 | single nucleotide variant | NM_000834.5(GRIN2B):c.930G>T (p.Glu310Asp) | Intellectual disability, autosomal dominant 6 [RCV005224471] | uncertain significance | 12 | 13753397 | 13753397 | Human | 1 | name |
| 597921836 | CV3875553 | single nucleotide variant | NM_000834.5(GRIN2B):c.4446T>C (p.Ser1482=) | Intellectual disability, autosomal dominant 6 [RCV005223640] | likely benign | 12 | 13562792 | 13562792 | Human | 1 | name |
| 597900054 | CV3876267 | single nucleotide variant | NM_000834.5(GRIN2B):c.3819G>T (p.Thr1273=) | Intellectual disability, autosomal dominant 6 [RCV005220157] | likely benign | 12 | 13563419 | 13563419 | Human | 1 | name |
| 597900867 | CV3876572 | single nucleotide variant | NM_000834.5(GRIN2B):c.4050C>T (p.Ala1350=) | Intellectual disability, autosomal dominant 6 [RCV005220270] | likely benign | 12 | 13563188 | 13563188 | Human | 1 | name |
| 597851977 | CV3877154 | single nucleotide variant | NM_000834.5(GRIN2B):c.3378G>A (p.Lys1126=) | Intellectual disability, autosomal dominant 6 [RCV005228383] | likely benign | 12 | 13563860 | 13563860 | Human | 1 | name |
| 597842878 | CV3878372 | single nucleotide variant | NM_000834.5(GRIN2B):c.3840G>A (p.Lys1280=) | Intellectual disability, autosomal dominant 6 [RCV005226862] | likely benign | 12 | 13563398 | 13563398 | Human | 1 | name |
| 597834482 | CV3878676 | single nucleotide variant | NM_000834.5(GRIN2B):c.3543C>T (p.His1181=) | Intellectual disability, autosomal dominant 6 [RCV005225046] | likely benign | 12 | 13563695 | 13563695 | Human | 1 | name |
| 598124948 | CV3883746 | single nucleotide variant | NM_000834.5(GRIN2B):c.758G>A (p.Gly253Asp) | not provided [RCV005236101] | uncertain significance | 12 | 13753569 | 13753569 | Human | | name |
| 598125415 | CV3883987 | single nucleotide variant | NM_000834.5(GRIN2B):c.698C>T (p.Thr233Ile) | not provided [RCV005236342] | uncertain significance | 12 | 13753629 | 13753629 | Human | | name |
| 598123212 | CV3890246 | single nucleotide variant | NM_000834.5(GRIN2B):c.575A>G (p.Asn192Ser) | not provided [RCV005250765] | uncertain significance | 12 | 13753752 | 13753752 | Human | | name |
| 598202473 | CV3892828 | single nucleotide variant | NM_000834.5(GRIN2B):c.695G>C (p.Cys232Ser) | not provided [RCV005255158] | uncertain significance | 12 | 13753632 | 13753632 | Human | | name |
| 598233483 | CV3893696 | single nucleotide variant | NM_000834.5(GRIN2B):c.768G>T (p.Trp256Cys) | not provided [RCV005256429] | uncertain significance | 12 | 13753559 | 13753559 | Human | | name |
| 12885010 | CV398876 | single nucleotide variant | NM_000834.5(GRIN2B):c.542A>G (p.Asp181Gly) | Intellectual disability, autosomal dominant 6 [RCV000464545] | uncertain significance | 12 | 13753785 | 13753785 | Human | 1 | name |
| 12888882 | CV399032 | single nucleotide variant | NM_000834.5(GRIN2B):c.674G>A (p.Ser225Asn) | Intellectual disability, autosomal dominant 6 [RCV000471767] | uncertain significance | 12 | 13753653 | 13753653 | Human | 1 | name |
| 12890222 | CV399345 | single nucleotide variant | NM_000834.5(GRIN2B):c.514G>A (p.Val172Ile) | Intellectual disability, autosomal dominant 6 [RCV000474212]|not provided [RCV001591098] | likely benign|uncertain significance | 12 | 13753813 | 13753813 | Human | 1 | name |
| 12884518 | CV399587 | single nucleotide variant | NM_000834.5(GRIN2B):c.3957G>A (p.Pro1319=) | GRIN2B-related disorder [RCV004541510]|Intellectual disability, autosomal dominant 6 [RCV000463591]|not provided [RCV001675910]|not specified [RCV005239057] | benign|likely benign | 12 | 13563281 | 13563281 | Human | 1 | name , alternate_id |
| 12885182 | CV399593 | single nucleotide variant | NM_000834.5(GRIN2B):c.3807A>G (p.Pro1269=) | Inborn genetic diseases [RCV002356754]|Intellectual disability, autosomal dominant 6 [RCV001503624] | likely benign | 12 | 13563431 | 13563431 | Human | 2 | name |
| 616938619 | CV4015078 | single nucleotide variant | NM_000834.5(GRIN2B):c.677C>G (p.Pro226Arg) | Intellectual disability, autosomal dominant 6 [RCV005412095] | uncertain significance | 12 | 13753650 | 13753650 | Human | 1 | name |
| 617150612 | CV4018916 | single nucleotide variant | NM_000834.5(GRIN2B):c.637G>C (p.Asp213His) | not provided [RCV005423324] | uncertain significance | 12 | 13753690 | 13753690 | Human | | name |
| 12906362 | CV415326 | single nucleotide variant | NM_000834.5(GRIN2B):c.935G>A (p.Ser312Asn) | Inborn genetic diseases [RCV004629223]|not provided [RCV000489124] | uncertain significance | 12 | 13753392 | 13753392 | Human | 1 | name |
| 12907161 | CV415327 | single nucleotide variant | NM_000834.5(GRIN2B):c.841T>A (p.Ser281Thr) | Intellectual disability, autosomal dominant 6 [RCV005222966]|not provided [RCV000490109] | uncertain significance | 12 | 13753486 | 13753486 | Human | 1 | name |
| 12912793 | CV421912 | single nucleotide variant | NM_000834.5(GRIN2B):c.679A>G (p.Ile227Val) | Intellectual disability, autosomal dominant 6 [RCV001085323]|not provided [RCV000493024] | benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13753648 | 13753648 | Human | 1 | name |
| 13211741 | CV425961 | single nucleotide variant | NM_000834.5(GRIN2B):c.730G>T (p.Ala244Ser) | not provided [RCV000497849] | uncertain significance | 12 | 13753597 | 13753597 | Human | | name |
| 13216069 | CV429408 | single nucleotide variant | NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=) | Intellectual disability, autosomal dominant 6 [RCV000655340]|not provided [RCV000761818]|not specified [RCV000503279] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13563257 | 13563257 | Human | 1 | name |
| 13214509 | CV429409 | single nucleotide variant | NM_000834.5(GRIN2B):c.3510A>T (p.Gly1170=) | not specified [RCV000501354] | uncertain significance | 12 | 13563728 | 13563728 | Human | | name |
| 13476123 | CV444951 | deletion | NM_000834.5(GRIN2B):c.2039del (p.Pro680fs) | not provided [RCV000520067] | pathogenic | 12 | 13571936 | 13571936 | Human | | name |
| 13488002 | CV462048 | single nucleotide variant | NM_000834.5(GRIN2B):c.3306T>C (p.Phe1102=) | Inborn genetic diseases [RCV002456268]|Intellectual disability, autosomal dominant 6 [RCV000532121] | likely benign | 12 | 13563932 | 13563932 | Human | 2 | name |
| 13490378 | CV462312 | single nucleotide variant | NM_000834.5(GRIN2B):c.3285G>A (p.Ser1095=) | Intellectual disability, autosomal dominant 6 [RCV000555926]|not provided [RCV001091148] | likely benign | 12 | 13563953 | 13563953 | Human | 1 | name |
| 13534506 | CV504002 | single nucleotide variant | NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=) | GRIN2B-related disorder [RCV004543419]|Intellectual disability, autosomal dominant 6 [RCV000872267]|not provided [RCV001712625] | benign|likely benign | 12 | 13563137 | 13563137 | Human | 1 | name , alternate_id |
| 13525125 | CV504003 | single nucleotide variant | NM_000834.5(GRIN2B):c.3339G>T (p.Pro1113=) | Intellectual disability, autosomal dominant 6 [RCV001425601]|not specified [RCV000602732] | likely benign | 12 | 13563899 | 13563899 | Human | 1 | name |
| 13536657 | CV504235 | single nucleotide variant | NM_000834.5(GRIN2B):c.4107C>T (p.Gly1369=) | Intellectual disability, autosomal dominant 6 [RCV001046983]|not specified [RCV000609315] | benign|likely benign|uncertain significance | 12 | 13563131 | 13563131 | Human | 1 | name |
| 13540171 | CV504237 | single nucleotide variant | NM_000834.5(GRIN2B):c.3819G>A (p.Thr1273=) | Intellectual disability, autosomal dominant 6 [RCV001443845]|not provided [RCV002275072]|not specified [RCV000614325] | likely benign | 12 | 13563419 | 13563419 | Human | 1 | name |
| 13526781 | CV504705 | single nucleotide variant | NM_000834.5(GRIN2B):c.3966A>G (p.Val1322=) | Inborn genetic diseases [RCV002377329]|Intellectual disability, autosomal dominant 6 [RCV002531700]|not specified [RCV000604600] | likely benign | 12 | 13563272 | 13563272 | Human | 2 | name |
| 13530786 | CV504713 | single nucleotide variant | NM_000834.5(GRIN2B):c.3714G>T (p.Ala1238=) | Intellectual disability, autosomal dominant 6 [RCV002066505]|not specified [RCV000606250] | likely benign | 12 | 13563524 | 13563524 | Human | 1 | name |
| 13611252 | CV514637 | single nucleotide variant | NM_000834.5(GRIN2B):c.706G>T (p.Glu236Ter) | Complex neurodevelopmental disorder [RCV001265383]|not provided [RCV000627369] | pathogenic | 12 | 13753621 | 13753621 | Human | 1 | name |
| 13626779 | CV527015 | single nucleotide variant | NM_000834.5(GRIN2B):c.4296G>A (p.Ser1432=) | Intellectual disability, autosomal dominant 6 [RCV000655339] | likely benign | 12 | 13562942 | 13562942 | Human | 1 | name |
| 13626762 | CV527234 | single nucleotide variant | NM_000834.5(GRIN2B):c.3078C>T (p.Gly1026=) | Intellectual disability, autosomal dominant 6 [RCV000655329] | likely benign | 12 | 13564160 | 13564160 | Human | 1 | name |
| 13705878 | CV536834 | single nucleotide variant | NM_000834.5(GRIN2B):c.466G>A (p.Val156Ile) | GRIN2B-related disorder [RCV000844991]|Intellectual disability, autosomal dominant 6 [RCV001296560]|not provided [RCV000658428] | uncertain significance|not provided | 12 | 13753861 | 13753861 | Human | 1 | name , alternate_id |
| 13803103 | CV567941 | single nucleotide variant | NM_000834.5(GRIN2B):c.923T>C (p.Leu308Pro) | Intellectual disability, autosomal dominant 6 [RCV000707216] | uncertain significance | 12 | 13753404 | 13753404 | Human | 1 | name |
| 13830700 | CV579757 | single nucleotide variant | NM_000834.5(GRIN2B):c.4269C>T (p.Ala1423=) | Inborn genetic diseases [RCV002318293]|Intellectual disability, autosomal dominant 6 [RCV001474208] | likely benign | 12 | 13562969 | 13562969 | Human | 2 | name |
| 13828408 | CV579770 | single nucleotide variant | NM_000834.5(GRIN2B):c.3690G>A (p.Thr1230=) | Inborn genetic diseases [RCV002312421]|Intellectual disability, autosomal dominant 6 [RCV001862016] | likely benign|uncertain significance | 12 | 13563548 | 13563548 | Human | 2 | name |
| 13830702 | CV580039 | single nucleotide variant | NM_000834.5(GRIN2B):c.3504C>T (p.Ser1168=) | Inborn genetic diseases [RCV002318295]|Intellectual disability, autosomal dominant 6 [RCV003768160] | likely benign | 12 | 13563734 | 13563734 | Human | 2 | name |
| 13830006 | CV580042 | single nucleotide variant | NM_000834.5(GRIN2B):c.3009C>G (p.Leu1003=) | Inborn genetic diseases [RCV002318796]|Intellectual disability, autosomal dominant 6 [RCV002533035] | likely benign|uncertain significance | 12 | 13564229 | 13564229 | Human | 2 | name |
| 13830243 | CV580046 | single nucleotide variant | NM_000834.5(GRIN2B):c.3006G>T (p.Gly1002=) | Inborn genetic diseases [RCV002316859] | likely benign | 12 | 13564232 | 13564232 | Human | 1 | name |
| 14395635 | CV611410 | deletion | NM_000834.5(GRIN2B):c.2560del (p.Cys854fs) | Intellectual disability, autosomal dominant 6 [RCV000760198] | pathogenic | 12 | 13567063 | 13567063 | Human | 1 | name |
| 14744521 | CV641007 | single nucleotide variant | NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg) | Intellectual disability, autosomal dominant 6 [RCV000824167]|not specified [RCV002249533] | benign|uncertain significance | 12 | 13753335 | 13753335 | Human | 1 | name |
| 14741920 | CV656124 | single nucleotide variant | NM_000834.5(GRIN2B):c.3081C>A (p.Leu1027=) | Intellectual disability, autosomal dominant 6 [RCV003768594]|not provided [RCV000841021] | likely benign | 12 | 13564157 | 13564157 | Human | 1 | name |
| 15145524 | CV687937 | single nucleotide variant | NM_000834.5(GRIN2B):c.4194C>T (p.Leu1398=) | Intellectual disability, autosomal dominant 6 [RCV000866105]|not provided [RCV001585818] | likely benign | 12 | 13563044 | 13563044 | Human | 1 | name |
| 15148554 | CV687938 | single nucleotide variant | NM_000834.5(GRIN2B):c.4104C>T (p.Gly1368=) | Intellectual disability, autosomal dominant 6 [RCV000866687] | likely benign | 12 | 13563134 | 13563134 | Human | 1 | name |
| 15161582 | CV687939 | single nucleotide variant | NM_000834.5(GRIN2B):c.3969C>T (p.Ser1323=) | Intellectual disability, autosomal dominant 6 [RCV000869245] | likely benign | 12 | 13563269 | 13563269 | Human | 1 | name |
| 15100805 | CV687941 | single nucleotide variant | NM_000834.5(GRIN2B):c.3456C>T (p.Thr1152=) | Intellectual disability, autosomal dominant 6 [RCV001484154] | likely benign | 12 | 13563782 | 13563782 | Human | 1 | name |
| 15100632 | CV687942 | single nucleotide variant | NM_000834.5(GRIN2B):c.3300G>A (p.Arg1100=) | Intellectual disability, autosomal dominant 6 [RCV000870097]|not provided [RCV003392653] | likely benign | 12 | 13563938 | 13563938 | Human | 1 | name |
| 15102384 | CV687943 | single nucleotide variant | NM_000834.5(GRIN2B):c.3033C>T (p.Phe1011=) | Intellectual disability, autosomal dominant 6 [RCV001454133] | likely benign | 12 | 13564205 | 13564205 | Human | 1 | name |
| 15193674 | CV753258 | single nucleotide variant | NM_000834.5(GRIN2B):c.3462C>T (p.Ile1154=) | Inborn genetic diseases [RCV002460118]|Intellectual disability, autosomal dominant 6 [RCV003768803] | likely benign | 12 | 13563776 | 13563776 | Human | 2 | name |
| 15142071 | CV753260 | single nucleotide variant | NM_000834.5(GRIN2B):c.3174C>G (p.Ser1058=) | Intellectual disability, autosomal dominant 6 [RCV001505404] | likely benign | 12 | 13564064 | 13564064 | Human | 1 | name |
| 15195492 | CV753263 | single nucleotide variant | NM_000834.5(GRIN2B):c.973C>G (p.His325Asp) | not provided [RCV000911432] | benign | 12 | 13753354 | 13753354 | Human | | name |
| 15199848 | CV769022 | single nucleotide variant | NM_000834.5(GRIN2B):c.4245G>A (p.Ser1415=) | Intellectual disability, autosomal dominant 6 [RCV001446618]|not provided [RCV000935219] | likely benign | 12 | 13562993 | 13562993 | Human | 1 | name |
| 15141658 | CV769025 | single nucleotide variant | NM_000834.5(GRIN2B):c.3402G>A (p.Leu1134=) | Intellectual disability, autosomal dominant 6 [RCV000943935] | benign | 12 | 13563836 | 13563836 | Human | 1 | name |
| 15128606 | CV769026 | single nucleotide variant | NM_000834.5(GRIN2B):c.3213G>A (p.Gly1071=) | not provided [RCV000941744] | likely benign | 12 | 13564025 | 13564025 | Human | | name |
| 21074203 | CV796724 | single nucleotide variant | NM_000834.5(GRIN2B):c.4341T>C (p.Cys1447=) | Intellectual disability, autosomal dominant 6 [RCV003769335]|not provided [RCV000994853] | likely benign|uncertain significance | 12 | 13562897 | 13562897 | Human | 1 | name |
| 25318402 | CV805733 | duplication | NM_000834.5(GRIN2B):c.2486dup (p.Met829fs) | not provided [RCV001008593] | likely pathogenic | 12 | 13567136 | 13567137 | Human | | name |
| 26897898 | CV822064 | single nucleotide variant | NM_000834.5(GRIN2B):c.871G>A (p.Ala291Thr) | Intellectual disability, autosomal dominant 6 [RCV001034351] | benign | 12 | 13753456 | 13753456 | Human | 1 | name |
| 8627233 | CV82377 | single nucleotide variant | NM_000834.5(GRIN2B):c.3627G>A (p.Arg1209=) | Intellectual disability, autosomal dominant 6 [RCV002193616] | likely benign|not provided | 12 | 13563611 | 13563611 | Human | 1 | name |
| 26913667 | CV839715 | single nucleotide variant | NM_000834.5(GRIN2B):c.958A>G (p.Ser320Gly) | Intellectual disability, autosomal dominant 6 [RCV001040168] | uncertain significance | 12 | 13753369 | 13753369 | Human | 1 | name |
| 26912237 | CV839716 | single nucleotide variant | NM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser) | Intellectual disability, autosomal dominant 6 [RCV001053329] | benign|uncertain significance | 12 | 13753459 | 13753459 | Human | 1 | name |
| 8634595 | CV89815 | single nucleotide variant | NM_000834.3(GRIN2B):c.842C>T (p.Ser281Leu) | Malignant melanoma [RCV000069912] | not provided | 12 | 13753485 | 13753485 | Human | | name |
| 34891443 | CV904564 | deletion | NM_000834.5(GRIN2B):c.1016del (p.Leu339fs) | not provided [RCV001172062] | likely pathogenic | 12 | 13675854 | 13675854 | Human | | name |
| 34892294 | CV904937 | deletion | NM_000834.5(GRIN2B):c.1088del (p.Val363fs) | Intellectual disability, autosomal dominant 6 [RCV001172346] | pathogenic | 12 | 13675782 | 13675782 | Human | 1 | name |
| 34892292 | CV904938 | single nucleotide variant | NM_000834.5(GRIN2B):c.737C>A (p.Ser246Ter) | Intellectual disability, autosomal dominant 6 [RCV001172345] | pathogenic | 12 | 13753590 | 13753590 | Human | 1 | name |
| 34892290 | CV904939 | single nucleotide variant | NM_000834.5(GRIN2B):c.649C>T (p.Gln217Ter) | Intellectual disability, autosomal dominant 6 [RCV001172344] | pathogenic | 12 | 13753678 | 13753678 | Human | 1 | name |
| 34892288 | CV904940 | single nucleotide variant | NM_000834.5(GRIN2B):c.538C>T (p.Gln180Ter) | Intellectual disability, autosomal dominant 6 [RCV001172343] | pathogenic | 12 | 13753789 | 13753789 | Human | 1 | name |
| 38491320 | CV926574 | single nucleotide variant | NM_000834.5(GRIN2B):c.4203C>T (p.Ser1401=) | Intellectual disability, autosomal dominant 6 [RCV001222756] | uncertain significance | 12 | 13563035 | 13563035 | Human | 1 | name |
| 38483182 | CV936041 | single nucleotide variant | NM_000834.5(GRIN2B):c.364C>T (p.Pro122Ser) | Intellectual disability, autosomal dominant 6 [RCV001207551]|not provided [RCV001760174] | likely benign|uncertain significance | 12 | 13865845 | 13865845 | Human | 1 | name |
| 40814430 | CV969374 | duplication | NM_000834.5(GRIN2B):c.1251dup (p.Ile418fs) | Intellectual disability [RCV001260645] | pathogenic | 12 | 13616531 | 13616532 | Human | 2 | name |
| 40887348 | CV973836 | single nucleotide variant | NM_000834.5(GRIN2B):c.396G>A (p.Met132Ile) | Inborn genetic diseases [RCV001266887] | uncertain significance | 12 | 13865813 | 13865813 | Human | 1 | name |
| 40904222 | CV976661 | single nucleotide variant | NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val) | Intellectual disability, autosomal dominant 6 [RCV001270385] | likely pathogenic|uncertain significance | 12 | 13753432 | 13753432 | Human | 1 | name |
| 126754878 | CV995071 | single nucleotide variant | NM_000834.5(GRIN2B):c.823A>G (p.Thr275Ala) | Intellectual disability, autosomal dominant 6 [RCV001307732] | uncertain significance | 12 | 13753504 | 13753504 | Human | 1 | name |
| 9480245 | CV152907 | single nucleotide variant | NM_000834.5(GRIN2B):c.1238A>G (p.Glu413Gly) | Intellectual disability, autosomal dominant 6 [RCV000132723] | pathogenic | 12 | 13616545 | 13616545 | Human | 1 | name |
| 9686569 | CV171801 | single nucleotide variant | NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) | Developmental and epileptic encephalopathy, 27 [RCV000149503]|Intellectual disability, autosomal dominant 6 [RCV001172367] | pathogenic|likely pathogenic | 12 | 13608760 | 13608760 | Human | 2 | name |
| 9686570 | CV171802 | single nucleotide variant | NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) | Developmental and epileptic encephalopathy, 27 [RCV000149504]|Intellectual disability, autosomal dominant 6 [RCV001172364] | pathogenic|likely pathogenic | 12 | 13608769 | 13608769 | Human | 2 | name |
| 9686571 | CV171803 | single nucleotide variant | NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His) | Inborn genetic diseases [RCV002514867]|Intellectual disability [RCV001260644]|Intellectual disability, autosomal dominant 6 [RCV000149505]|Intellectual disability, autosomal dominant 6 [RCV005411355]|not provided [RCV002293420] | pathogenic|likely pathogenic | 12 | 13615149 | 13615149 | Human | 4 | name |
| 401798519 | CV2739365 | single nucleotide variant | NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys) | Developmental and epileptic encephalopathy, 27 [RCV004798979]|Intellectual disability, autosomal dominant 6 [RCV003777305]|not provided [RCV003319013] | pathogenic|likely pathogenic | 12 | 13571889 | 13571889 | Human | 2 | name |
| 401875178 | CV2749880 | single nucleotide variant | NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val) | Developmental and epileptic encephalopathy, 27 [RCV003333274]|Intellectual disability, autosomal dominant 6 [RCV003333273] | likely pathogenic|uncertain significance | 12 | 13567171 | 13567171 | Human | 2 | name |
| 401854988 | CV2752706 | single nucleotide variant | NM_000834.5(GRIN2B):c.2699G>A (p.Arg900His) | Developmental and epileptic encephalopathy, 27 [RCV003337760] | uncertain significance | 12 | 13564539 | 13564539 | Human | 1 | name |
| 401906226 | CV2799861 | single nucleotide variant | NM_000834.5(GRIN2B):c.2530T>A (p.Trp844Arg) | GRIN2B-related disorder [RCV004536732] | uncertain significance | 12 | 13567093 | 13567093 | Human | | name , trait , alternate_id |
| 401905986 | CV2806759 | single nucleotide variant | NM_000834.5(GRIN2B):c.2410G>T (p.Glu804Ter) | not provided [RCV003396252] | pathogenic | 12 | 13567213 | 13567213 | Human | | name |
| 401912979 | CV2830127 | single nucleotide variant | NM_000834.5(GRIN2B):c.2372A>T (p.Glu791Val) | not provided [RCV003441342] | uncertain significance | 12 | 13567251 | 13567251 | Human | | name |
| 404992943 | CV3089000 | single nucleotide variant | NM_000834.5(GRIN2B):c.1646C>G (p.Ala549Gly) | Inborn genetic diseases [RCV004981017]|Intellectual disability, autosomal dominant 6 [RCV003782644] | uncertain significance | 12 | 13615122 | 13615122 | Human | 2 | name |
| 405031104 | CV3095248 | single nucleotide variant | NM_000834.5(GRIN2B):c.1349C>T (p.Pro450Leu) | Intellectual disability, autosomal dominant 6 [RCV003796454] | uncertain significance | 12 | 13615644 | 13615644 | Human | 1 | name |
| 405180769 | CV3101770 | single nucleotide variant | NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys) | Intellectual disability, autosomal dominant 6 [RCV003803984] | likely pathogenic | 12 | 13615219 | 13615219 | Human | 1 | name |
| 405169004 | CV3104167 | single nucleotide variant | NM_000834.5(GRIN2B):c.2852A>T (p.Asn951Ile) | Intellectual disability, autosomal dominant 6 [RCV003802844] | uncertain significance | 12 | 13564386 | 13564386 | Human | 1 | name |
| 405171064 | CV3104348 | single nucleotide variant | NM_000834.5(GRIN2B):c.1055G>A (p.Ser352Asn) | Intellectual disability, autosomal dominant 6 [RCV003803025] | uncertain significance | 12 | 13675815 | 13675815 | Human | 1 | name |
| 405173597 | CV3104801 | single nucleotide variant | NM_000834.5(GRIN2B):c.2083A>G (p.Ile695Val) | Intellectual disability, autosomal dominant 6 [RCV003803299] | uncertain significance | 12 | 13571892 | 13571892 | Human | 1 | name |
| 405159017 | CV3109516 | single nucleotide variant | NM_000834.5(GRIN2B):c.2795A>G (p.Tyr932Cys) | Intellectual disability, autosomal dominant 6 [RCV003802040] | uncertain significance | 12 | 13564443 | 13564443 | Human | 1 | name |
| 405105160 | CV3113173 | single nucleotide variant | NM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys) | Intellectual disability, autosomal dominant 6 [RCV003812464] | benign | 12 | 13564493 | 13564493 | Human | 1 | name |
| 405746135 | CV3226362 | single nucleotide variant | NM_000834.5(GRIN2B):c.1068C>A (p.Tyr356Ter) | Intellectual disability, autosomal dominant 6 [RCV003991353] | likely pathogenic | 12 | 13675802 | 13675802 | Human | 1 | name |
| 407424889 | CV3410825 | deletion | NM_000834.5(GRIN2B):c.3391del (p.Asp1131fs) | Intellectual disability, autosomal dominant 6 [RCV004586469] | likely pathogenic | 12 | 13563847 | 13563847 | Human | 1 | name |
| 407463379 | CV3433233 | single nucleotide variant | NM_000834.5(GRIN2B):c.1666G>A (p.Ala556Thr) | Inborn genetic diseases [RCV004634810] | uncertain significance | 12 | 13611839 | 13611839 | Human | 1 | name |
| 407463384 | CV3433235 | single nucleotide variant | NM_000834.5(GRIN2B):c.1874G>T (p.Gly625Val) | Inborn genetic diseases [RCV004634812] | uncertain significance | 12 | 13608739 | 13608739 | Human | 1 | name |
| 407463388 | CV3433236 | single nucleotide variant | NM_000834.5(GRIN2B):c.1882T>A (p.Ser628Thr) | Inborn genetic diseases [RCV004634813] | uncertain significance | 12 | 13608731 | 13608731 | Human | 1 | name |
| 407503490 | CV3495820 | single nucleotide variant | NM_000834.5(GRIN2B):c.2941T>A (p.Tyr981Asn) | not provided [RCV004697660] | uncertain significance | 12 | 13564297 | 13564297 | Human | | name |
| 408365285 | CV3501480 | single nucleotide variant | NM_000834.5(GRIN2B):c.2483C>T (p.Ala828Val) | Intellectual disability, autosomal dominant 6 [RCV004720712] | uncertain significance | 12 | 13567140 | 13567140 | Human | 1 | name |
| 408387753 | CV3520467 | single nucleotide variant | NM_000834.5(GRIN2B):c.1637C>T (p.Ser546Leu) | not provided [RCV004761299] | uncertain significance | 12 | 13615131 | 13615131 | Human | | name |
| 408391324 | CV3521294 | single nucleotide variant | NM_000834.5(GRIN2B):c.2674A>G (p.Asn892Asp) | not provided [RCV004763116] | uncertain significance | 12 | 13564564 | 13564564 | Human | | name |
| 408391747 | CV3523371 | single nucleotide variant | NM_000834.5(GRIN2B):c.2849A>G (p.Asn950Ser) | not provided [RCV004770744] | uncertain significance | 12 | 13564389 | 13564389 | Human | | name |
| 408390797 | CV3527736 | single nucleotide variant | NM_000834.5(GRIN2B):c.2222G>A (p.Gly741Asp) | not provided [RCV004775005] | uncertain significance | 12 | 13569967 | 13569967 | Human | | name |
| 408389020 | CV3529181 | single nucleotide variant | NM_000834.5(GRIN2B):c.2827C>T (p.His943Tyr) | not provided [RCV004774003] | uncertain significance | 12 | 13564411 | 13564411 | Human | | name |
| 596930880 | CV3529722 | single nucleotide variant | NM_000834.5(GRIN2B):c.2891G>A (p.Ser964Asn) | not provided [RCV004780771] | uncertain significance | 12 | 13564347 | 13564347 | Human | | name |
| 596930940 | CV3529784 | single nucleotide variant | NM_000834.5(GRIN2B):c.2968C>T (p.Arg990Trp) | Intellectual disability, autosomal dominant 6 [RCV005221056]|not provided [RCV004780834] | uncertain significance | 12 | 13564270 | 13564270 | Human | 1 | name |
| 596931219 | CV3531552 | single nucleotide variant | NM_000834.5(GRIN2B):c.1485T>A (p.Asn495Lys) | not provided [RCV004781114] | uncertain significance | 12 | 13615508 | 13615508 | Human | | name |
| 596927659 | CV3532652 | single nucleotide variant | NM_000834.5(GRIN2B):c.1168G>T (p.Val390Leu) | not provided [RCV004778750] | uncertain significance | 12 | 13616615 | 13616615 | Human | | name |
| 596921961 | CV3535590 | single nucleotide variant | NM_000834.5(GRIN2B):c.1111A>G (p.Arg371Gly) | Intellectual disability, autosomal dominant 6 [RCV004785145] | uncertain significance | 12 | 13675759 | 13675759 | Human | 1 | name |
| 596924915 | CV3536816 | single nucleotide variant | NM_000834.5(GRIN2B):c.2060C>A (p.Pro687His) | Intellectual disability, autosomal dominant 6 [RCV004785810] | uncertain significance | 12 | 13571915 | 13571915 | Human | 1 | name |
| 596922297 | CV3537095 | single nucleotide variant | NM_000834.5(GRIN2B):c.1075C>T (p.His359Tyr) | not provided [RCV004786090] | uncertain significance | 12 | 13675795 | 13675795 | Human | | name |
| 596922914 | CV3537463 | single nucleotide variant | NM_000834.5(GRIN2B):c.2366T>C (p.Met789Thr) | not provided [RCV004787433] | uncertain significance | 12 | 13567257 | 13567257 | Human | | name |
| 596923148 | CV3537585 | single nucleotide variant | NM_000834.5(GRIN2B):c.2533C>T (p.Gln845Ter) | Intellectual disability, autosomal dominant 6 [RCV004787553] | pathogenic | 12 | 13567090 | 13567090 | Human | 1 | name |
| 596928429 | CV3540406 | single nucleotide variant | NM_000834.5(GRIN2B):c.2471T>A (p.Met824Lys) | Intellectual disability, autosomal dominant 6 [RCV004794733] | likely pathogenic | 12 | 13567152 | 13567152 | Human | 1 | name |
| 596929440 | CV3540931 | single nucleotide variant | NM_000834.5(GRIN2B):c.2514C>A (p.Cys838Ter) | Intellectual disability, autosomal dominant 6 [RCV004795254]|Intellectual disability, autosomal dominant 6 [RCV005218332] | pathogenic | 12 | 13567109 | 13567109 | Human | 1 | name |
| 596946730 | CV3548560 | single nucleotide variant | NM_000834.5(GRIN2B):c.2950C>T (p.His984Tyr) | not provided [RCV004810387] | uncertain significance | 12 | 13564288 | 13564288 | Human | | name |
| 597662053 | CV3678678 | single nucleotide variant | NM_000834.5(GRIN2B):c.1541C>G (p.Thr514Ser) | Inborn genetic diseases [RCV004977705] | uncertain significance | 12 | 13615227 | 13615227 | Human | 1 | name |
| 597690880 | CV3678681 | single nucleotide variant | NM_000834.5(GRIN2B):c.2652G>A (p.Met884Ile) | Inborn genetic diseases [RCV004985628]|Intellectual disability, autosomal dominant 6 [RCV005221183] | uncertain significance | 12 | 13564586 | 13564586 | Human | 2 | name |
| 597655082 | CV3731451 | single nucleotide variant | NM_000834.5(GRIN2B):c.2575G>A (p.Gly859Ser) | not provided [RCV005001632] | uncertain significance | 12 | 13567048 | 13567048 | Human | | name |
| 597882811 | CV3865941 | single nucleotide variant | NM_000834.5(GRIN2B):c.1412C>A (p.Ser471Tyr) | Intellectual disability, autosomal dominant 6 [RCV005217606] | uncertain significance | 12 | 13615581 | 13615581 | Human | 1 | name |
| 597896959 | CV3866127 | single nucleotide variant | NM_000834.5(GRIN2B):c.2021C>T (p.Pro674Leu) | Intellectual disability, autosomal dominant 6 [RCV005219744] | uncertain significance | 12 | 13571954 | 13571954 | Human | 1 | name |
| 597870161 | CV3866256 | single nucleotide variant | NM_000834.5(GRIN2B):c.2368G>T (p.Glu790Ter) | Intellectual disability, autosomal dominant 6 [RCV005215597] | pathogenic | 12 | 13567255 | 13567255 | Human | 1 | name |
| 597884410 | CV3866328 | single nucleotide variant | NM_000834.5(GRIN2B):c.1588A>G (p.Ile530Val) | Intellectual disability, autosomal dominant 6 [RCV005217804] | uncertain significance | 12 | 13615180 | 13615180 | Human | 1 | name |
| 597885471 | CV3866497 | single nucleotide variant | NM_000834.5(GRIN2B):c.1213C>T (p.His405Tyr) | Intellectual disability, autosomal dominant 6 [RCV005217973] | likely benign | 12 | 13616570 | 13616570 | Human | 1 | name |
| 597886172 | CV3866582 | single nucleotide variant | NM_000834.5(GRIN2B):c.2344C>T (p.Gln782Ter) | Intellectual disability, autosomal dominant 6 [RCV005218058] | pathogenic | 12 | 13569845 | 13569845 | Human | 1 | name |
| 8567883 | CV38685 | single nucleotide variant | NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) | Intellectual disability [RCV001260642]|Intellectual disability, autosomal dominant 6 [RCV000022582]|not provided [RCV001541943] | pathogenic|likely pathogenic | 12 | 13571931 | 13571931 | Human | 3 | name |
| 597854087 | CV3869867 | deletion | NM_000834.5(GRIN2B):c.3558del (p.Lys1186fs) | Intellectual disability, autosomal dominant 6 [RCV005213152] | pathogenic | 12 | 13563680 | 13563680 | Human | 1 | name |
| 597877230 | CV3871558 | single nucleotide variant | NM_000834.5(GRIN2B):c.1852G>A (p.Val618Ile) | Intellectual disability, autosomal dominant 6 [RCV005216774] | likely pathogenic | 12 | 13608761 | 13608761 | Human | 1 | name |
| 597841232 | CV3873682 | single nucleotide variant | NM_000834.5(GRIN2B):c.1321G>A (p.Val441Ile) | Intellectual disability, autosomal dominant 6 [RCV005226509] | uncertain significance | 12 | 13616462 | 13616462 | Human | 1 | name |
| 597845067 | CV3875881 | single nucleotide variant | NM_000834.5(GRIN2B):c.2899G>C (p.Glu967Gln) | Intellectual disability, autosomal dominant 6 [RCV005211963] | uncertain significance | 12 | 13564339 | 13564339 | Human | 1 | name |
| 597845073 | CV3875882 | single nucleotide variant | NM_000834.5(GRIN2B):c.2672T>C (p.Met891Thr) | Intellectual disability, autosomal dominant 6 [RCV005211964] | uncertain significance | 12 | 13564566 | 13564566 | Human | 1 | name |
| 597897880 | CV3875962 | single nucleotide variant | NM_000834.5(GRIN2B):c.1826T>C (p.Leu609Pro) | Intellectual disability, autosomal dominant 6 [RCV005219852] | uncertain significance | 12 | 13608787 | 13608787 | Human | 1 | name |
| 597851679 | CV3877118 | single nucleotide variant | NM_000834.5(GRIN2B):c.2404C>T (p.His802Tyr) | Intellectual disability, autosomal dominant 6 [RCV005228346] | uncertain significance | 12 | 13567219 | 13567219 | Human | 1 | name |
| 597851695 | CV3877120 | single nucleotide variant | NM_000834.5(GRIN2B):c.1074G>A (p.Met358Ile) | Intellectual disability, autosomal dominant 6 [RCV005228348] | uncertain significance | 12 | 13675796 | 13675796 | Human | 1 | name |
| 597930991 | CV3878525 | single nucleotide variant | NM_000834.5(GRIN2B):c.2537T>G (p.Phe846Cys) | Intellectual disability, autosomal dominant 6 [RCV005224895] | uncertain significance | 12 | 13567086 | 13567086 | Human | 1 | name |
| 597915750 | CV3879030 | single nucleotide variant | NM_000834.5(GRIN2B):c.2922G>C (p.Gln974His) | Intellectual disability, autosomal dominant 6 [RCV005222566] | uncertain significance | 12 | 13564316 | 13564316 | Human | 1 | name |
| 598126673 | CV3882128 | single nucleotide variant | NM_000834.5(GRIN2B):c.1645G>T (p.Ala549Ser) | not provided [RCV005233679] | uncertain significance | 12 | 13615123 | 13615123 | Human | | name |
| 598125399 | CV3883978 | single nucleotide variant | NM_000834.5(GRIN2B):c.2144A>G (p.Asp715Gly) | not provided [RCV005236333] | uncertain significance | 12 | 13571831 | 13571831 | Human | | name |
| 598238088 | CV3893371 | single nucleotide variant | NM_000834.5(GRIN2B):c.1143C>G (p.Asp381Glu) | not provided [RCV005256104] | uncertain significance | 12 | 13616640 | 13616640 | Human | | name |
| 598188177 | CV3978128 | single nucleotide variant | NM_000834.5(GRIN2B):c.2636A>C (p.Glu879Ala) | Inborn genetic diseases [RCV005353809] | uncertain significance | 12 | 13564602 | 13564602 | Human | 1 | name |
| 616934928 | CV4009150 | deletion | NM_000834.5(GRIN2B):c.4386del (p.Arg1463fs) | Developmental and epileptic encephalopathy, 27 [RCV005402323] | likely pathogenic | 12 | 13562852 | 13562852 | Human | 1 | name |
| 616935010 | CV4009236 | single nucleotide variant | NM_000834.5(GRIN2B):c.2939T>G (p.Val980Gly) | not provided [RCV005402408] | uncertain significance | 12 | 13564299 | 13564299 | Human | | name |
| 616933434 | CV4013705 | indel | NM_000834.5(GRIN2B):c.2360-3_2377delinsTTTC | Intellectual disability, autosomal dominant 6 [RCV005411193] | likely pathogenic | 12 | 13567246 | 13567266 | Human | | name |
| 616937815 | CV4015717 | single nucleotide variant | NM_000834.5(GRIN2B):c.2141T>A (p.Val714Glu) | Autism spectrum disorder [RCV005413229] | likely pathogenic | 12 | 13571834 | 13571834 | Human | 2 | name |
| 617151119 | CV4017753 | single nucleotide variant | NM_000834.5(GRIN2B):c.2072C>T (p.Thr691Ile) | Developmental and epileptic encephalopathy, 27 [RCV005417538] | likely pathogenic | 12 | 13571903 | 13571903 | Human | 1 | name |
| 617151319 | CV4017755 | single nucleotide variant | NM_000834.5(GRIN2B):c.2389C>T (p.Leu797Phe) | Developmental and epileptic encephalopathy, 27 [RCV005417540] | likely pathogenic | 12 | 13567234 | 13567234 | Human | 1 | name |
| 617151125 | CV4017756 | single nucleotide variant | NM_000834.5(GRIN2B):c.2287G>A (p.Gly763Ser) | Developmental and epileptic encephalopathy, 27 [RCV005417541] | likely pathogenic | 12 | 13569902 | 13569902 | Human | 1 | name |
| 617151141 | CV4017764 | single nucleotide variant | NM_000834.5(GRIN2B):c.1883C>A (p.Ser628Tyr) | Developmental and epileptic encephalopathy, 27 [RCV005417549] | likely pathogenic | 12 | 13608730 | 13608730 | Human | 1 | name |
| 617152185 | CV4018318 | single nucleotide variant | NM_000834.5(GRIN2B):c.2984G>A (p.Gly995Asp) | not specified [RCV005418578] | uncertain significance | 12 | 13564254 | 13564254 | Human | | name |
| 8570575 | CV48257 | single nucleotide variant | NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr) | Intellectual disability, autosomal dominant 6 [RCV000032862] | pathogenic|likely pathogenic | 12 | 13615626 | 13615626 | Human | 1 | name |
| 8604312 | CV48259 | single nucleotide variant | NM_000834.5(GRIN2B):c.1677G>A (p.Trp559Ter) | Intellectual disability, autosomal dominant 6 [RCV000032864]|not provided [RCV000627229] | pathogenic | 12 | 13611828 | 13611828 | Human | 1 | name |
| 8570576 | CV48260 | single nucleotide variant | NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) | Developmental and epileptic encephalopathy, 27 [RCV002466416]|Intellectual disability, autosomal dominant 6 [RCV000032865] | pathogenic|likely pathogenic | 12 | 13611847 | 13611847 | Human | 2 | name |
| 40816415 | CV967276 | single nucleotide variant | NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter) | Intellectual disability, autosomal dominant 6 [RCV001258335]|Intellectual disability, autosomal dominant 6 [RCV003770348] | pathogenic | 12 | 13567189 | 13567189 | Human | 1 | name |
| 40814431 | CV969372 | single nucleotide variant | NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) | Developmental and epileptic encephalopathy, 27 [RCV003339569]|Intellectual disability [RCV001260646] | pathogenic|likely pathogenic|uncertain significance | 12 | 13608652 | 13608652 | Human | 3 | name |
| 40814432 | CV969373 | single nucleotide variant | NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln) | GRIN2B-related disorder [RCV004538546]|Intellectual disability [RCV001260647]|Intellectual disability, autosomal dominant 6 [RCV001270427] | pathogenic|likely pathogenic | 12 | 13615212 | 13615212 | Human | 3 | name , alternate_id |
| 40814429 | CV969375 | single nucleotide variant | NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile) | Intellectual disability [RCV001260641] | likely pathogenic | 12 | 13675848 | 13675848 | Human | 2 | name |
| 40888389 | CV971450 | single nucleotide variant | NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His) | Developmental and epileptic encephalopathy, 27 [RCV004799490]|Intellectual disability, autosomal dominant 6 [RCV001369317]|not provided [RCV003328667] | uncertain significance | 12 | 13564599 | 13564599 | Human | 2 | name |
| 40887663 | CV972961 | single nucleotide variant | NM_000834.5(GRIN2B):c.2461G>T (p.Val821Phe) | Complex neurodevelopmental disorder [RCV001265389]|not provided [RCV001558659] | pathogenic | 12 | 13567162 | 13567162 | Human | 1 | name |
| 40887660 | CV972962 | single nucleotide variant | NM_000834.5(GRIN2B):c.2237G>A (p.Cys746Tyr) | Complex neurodevelopmental disorder [RCV001265386] | likely pathogenic | 12 | 13569952 | 13569952 | Human | 1 | name |
| 40887655 | CV972963 | single nucleotide variant | NM_000834.5(GRIN2B):c.1675T>A (p.Trp559Arg) | Complex neurodevelopmental disorder [RCV001265380] | uncertain significance | 12 | 13611830 | 13611830 | Human | 1 | name |
| 40887737 | CV972964 | single nucleotide variant | NM_000834.5(GRIN2B):c.1627G>C (p.Gly543Arg) | Complex neurodevelopmental disorder [RCV001265473] | likely pathogenic | 12 | 13615141 | 13615141 | Human | 1 | name |
| 40887621 | CV972966 | single nucleotide variant | NM_000834.5(GRIN2B):c.1496G>A (p.Gly499Glu) | Complex neurodevelopmental disorder [RCV001265243] | likely pathogenic | 12 | 13615497 | 13615497 | Human | 1 | name |
| 40887657 | CV972967 | single nucleotide variant | NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) | Autosomal dominant non-syndromic intellectual disability [RCV002287490]|Complex neurodevelopmental disorder [RCV001265382]|not provided [RCV001311291] | pathogenic|likely pathogenic | 12 | 13616606 | 13616606 | Human | 2 | name |
| 40886735 | CV973835 | single nucleotide variant | NM_000834.5(GRIN2B):c.1922T>C (p.Ile641Thr) | Inborn genetic diseases [RCV001265965] | uncertain significance | 12 | 13608691 | 13608691 | Human | 1 | name |
| 40903873 | CV976364 | single nucleotide variant | NM_000834.5(GRIN2B):c.2189T>C (p.Ile730Thr) | not provided [RCV001269704] | likely pathogenic | 12 | 13570000 | 13570000 | Human | | name |
| 41408220 | CV980945 | single nucleotide variant | NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter) | Intellectual disability, autosomal dominant 6 [RCV001283816] | likely pathogenic | 12 | 13616496 | 13616496 | Human | 1 | name |
| 8644916 | CV104323 | single nucleotide variant | NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser) | GRIN2B-related disorder [RCV004542802]|Inborn genetic diseases [RCV002316286]|Intellectual disability, autosomal dominant 6 [RCV001087866]|not provided [RCV000084721] | benign|likely benign|uncertain significance|not provided | 12 | 13562998 | 13562998 | Human | 2 | alternate_id |
| 156162300 | CV1933272 | single nucleotide variant | NM_000834.5(GRIN2B):c.4114A>G (p.Met1372Val) | GRIN2B-related disorder [RCV004540589]|Intellectual disability, autosomal dominant 6 [RCV002624417] | benign|likely benign | 12 | 13563124 | 13563124 | Human | 1 | alternate_id |
| 10396113 | CV202661 | single nucleotide variant | NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) | Developmental and epileptic encephalopathy, 27 [RCV001781554]|GRIN2B-related disorder [RCV004539739]|Inborn genetic diseases [RCV002314720]|Intellectual disability, autosomal dominant 6 [RCV000471349]|not provided [RCV000726884]|not specified [RCV003993873] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13564162 | 13564162 | Human | 3 | alternate_id |
| 10396111 | CV202664 | single nucleotide variant | NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) | GRIN2B-related disorder [RCV004537577]|Inborn genetic diseases [RCV002433846]|Intellectual disability, autosomal dominant 6 [RCV000694944]|not provided [RCV000733887] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13564307 | 13564307 | Human | 2 | alternate_id |
| 10396119 | CV202672 | single nucleotide variant | NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr) | GRIN2B-related disorder [RCV004539741]|Intellectual disability, autosomal dominant 6 [RCV001042553]|not provided [RCV001092382]|not specified [RCV005237682] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 13611737 | 13611737 | Human | 1 | alternate_id |
| 11091251 | CV231836 | single nucleotide variant | NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val) | GRIN2B-related disorder [RCV004529382]|Intellectual disability, autosomal dominant 6 [RCV001172337]|not provided [RCV000217079] | pathogenic|likely pathogenic | 12 | 13567164 | 13567164 | Human | 1 | alternate_id |
| 11523144 | CV244780 | single nucleotide variant | NM_000834.5(GRIN2B):c.3818C>A (p.Thr1273Lys) | GRIN2B-related disorder [RCV004532978]|Intellectual disability, autosomal dominant 6 [RCV000867207]|not provided [RCV001705308] | benign|likely benign|uncertain significance | 12 | 13563420 | 13563420 | Human | 1 | alternate_id |
| 11524146 | CV244787 | single nucleotide variant | NM_000834.5(GRIN2B):c.3389G>A (p.Arg1130Gln) | GRIN2B-related disorder [RCV004541467]|Intellectual disability, autosomal dominant 6 [RCV000556709]|not provided [RCV001722272]|not specified [RCV005238777] | benign|likely benign|uncertain significance | 12 | 13563849 | 13563849 | Human | 1 | alternate_id |
| 329355602 | CV2477507 | single nucleotide variant | NM_000834.5(GRIN2B):c.4082A>G (p.His1361Arg) | GRIN2B-related disorder [RCV003223454] | not provided | 12 | 13563156 | 13563156 | Human | | trait , alternate_id |
| 401936115 | CV2796257 | single nucleotide variant | NM_000834.5(GRIN2B):c.1760G>A (p.Arg587Lys) | GRIN2B-related disorder [RCV004529733] | uncertain significance | 12 | 13611745 | 13611745 | Human | | trait , alternate_id |
| 401923043 | CV2796685 | single nucleotide variant | NM_000834.5(GRIN2B):c.4288G>A (p.Val1430Met) | GRIN2B-related disorder [RCV004527952] | uncertain significance | 12 | 13562950 | 13562950 | Human | | trait , alternate_id |
| 401919441 | CV2798236 | single nucleotide variant | NM_000834.5(GRIN2B):c.2806G>T (p.Glu936Ter) | GRIN2B-related disorder [RCV004527861] | likely pathogenic | 12 | 13564432 | 13564432 | Human | | trait , alternate_id |
| 401931788 | CV2801765 | single nucleotide variant | NM_000834.5(GRIN2B):c.1378T>G (p.Phe460Val) | GRIN2B-related disorder [RCV004529292] | uncertain significance | 12 | 13615615 | 13615615 | Human | | trait , alternate_id |
| 12906192 | CV415325 | single nucleotide variant | NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) | Complex neurodevelopmental disorder [RCV001265378]|GRIN2B-related disorder [RCV003233648]|Intellectual disability [RCV001260640]|Intellectual disability, autosomal dominant 6 [RCV002063832]|not provided [RCV000488929] | pathogenic|likely pathogenic|not provided | 12 | 13567108 | 13567108 | Human | 4 | alternate_id |
| 13489364 | CV462310 | single nucleotide variant | NM_000834.5(GRIN2B):c.3493G>A (p.Asp1165Asn) | GRIN2B-related disorder [RCV004543260]|Inborn genetic diseases [RCV002456269]|Intellectual disability, autosomal dominant 6 [RCV000532871]|not specified [RCV004689794] | likely benign|uncertain significance | 12 | 13563745 | 13563745 | Human | 2 | alternate_id |
| 13803077 | CV567934 | single nucleotide variant | NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) | Complex neurodevelopmental disorder [RCV001265384]|GRIN2B-related disorder [RCV004723112]|Intellectual disability, autosomal dominant 6 [RCV000704324]|Intellectual disability, autosomal dominant 6 [RCV001172338]|not provided [RCV001555980] | pathogenic|likely pathogenic|uncertain significance | 12 | 13567164 | 13567164 | Human | 2 | alternate_id |
| 21072337 | CV791217 | single nucleotide variant | NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) | Complex neurodevelopmental disorder [RCV001265471]|GRIN2B-related disorder [RCV005250123]|Intellectual disability, autosomal dominant 6 [RCV000988789] | likely pathogenic | 12 | 13571894 | 13571894 | Human | 2 | alternate_id |
| 12742701 | CV359943 | indel | NM_000834.5(GRIN2B):c.1780+2_1780+3delinsGT | not provided [RCV000414287] | pathogenic | 12 | 13611722 | 13611723 | Human | | name |
| 405007726 | CV3096205 | single nucleotide variant | NM_000834.5(GRIN2B):c.1786G>A (p.Gly596Ser) | Intellectual disability, autosomal dominant 6 [RCV003794355] | likely benign | 12 | 13608827 | 13608827 | Human | 1 | name |
| 405094560 | CV3105545 | single nucleotide variant | NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val) | Intellectual disability, autosomal dominant 6 [RCV003801262] | likely pathogenic | 12 | 13567167 | 13567167 | Human | 1 | name |
| 405014708 | CV3106657 | single nucleotide variant | NM_000834.5(GRIN2B):c.1509G>A (p.Met503Ile) | Intellectual disability, autosomal dominant 6 [RCV003794994] | uncertain significance | 12 | 13615259 | 13615259 | Human | 1 | name |