| 329402437 | CV2454258 | single nucleotide variant | NM_005414.5(SKIL):c.61A>G (p.Met21Val) | not specified [RCV004265731] | uncertain significance | 3 | 170360392 | 170360392 | Human | | name |
| 329369690 | CV2461185 | single nucleotide variant | NM_005414.5(SKIL):c.41C>T (p.Ser14Leu) | not specified [RCV004267385] | uncertain significance | 3 | 170360372 | 170360372 | Human | | name |
| 401748906 | CV2702323 | single nucleotide variant | NM_005414.5(SKIL):c.70G>C (p.Asp24His) | not specified [RCV004316855] | uncertain significance | 3 | 170360401 | 170360401 | Human | | name |
| 597739554 | CV3599245 | single nucleotide variant | NM_005414.5(SKIL):c.31G>A (p.Val11Ile) | not specified [RCV004864489] | uncertain significance | 3 | 170360362 | 170360362 | Human | | name |
| 15143006 | CV733903 | single nucleotide variant | NM_005414.5(SKIL):c.708A>G (p.Pro236=) | not provided [RCV000899768] | benign | 3 | 170361039 | 170361039 | Human | | name |
| 405765657 | CV3332356 | single nucleotide variant | NM_005414.5(SKIL):c.199G>C (p.Glu67Gln) | not specified [RCV004456087] | uncertain significance | 3 | 170360530 | 170360530 | Human | | name |
| 597739545 | CV3599243 | single nucleotide variant | NM_005414.5(SKIL):c.193G>C (p.Asp65His) | not specified [RCV004864487] | uncertain significance | 3 | 170360524 | 170360524 | Human | | name |
| 597739550 | CV3599244 | single nucleotide variant | NM_005414.5(SKIL):c.194A>T (p.Asp65Val) | not specified [RCV004864488] | uncertain significance | 3 | 170360525 | 170360525 | Human | | name |
| 597739580 | CV3599251 | single nucleotide variant | NM_005414.5(SKIL):c.123A>C (p.Lys41Asn) | not specified [RCV004864495] | uncertain significance | 3 | 170360454 | 170360454 | Human | | name |
| 597739590 | CV3599253 | single nucleotide variant | NM_005414.5(SKIL):c.256T>G (p.Leu86Val) | not specified [RCV004864497] | uncertain significance | 3 | 170360587 | 170360587 | Human | | name |
| 9686849 | CV171359 | single nucleotide variant | NM_005414.5(SKIL):c.942A>T (p.Arg314Ser) | Prostate cancer [RCV000149067] | uncertain significance | 3 | 170361273 | 170361273 | Human | 2 | name |
| 156176508 | CV2331172 | single nucleotide variant | NM_005414.5(SKIL):c.740C>T (p.Pro247Leu) | not specified [RCV004181776] | uncertain significance | 3 | 170361071 | 170361071 | Human | | name |
| 156208136 | CV2382455 | single nucleotide variant | NM_005414.5(SKIL):c.574A>T (p.Ile192Leu) | not specified [RCV004230790] | uncertain significance | 3 | 170360905 | 170360905 | Human | | name |
| 329385367 | CV2432099 | single nucleotide variant | NM_005414.5(SKIL):c.593C>G (p.Thr198Ser) | not specified [RCV004249248] | uncertain significance | 3 | 170360924 | 170360924 | Human | | name |
| 401752680 | CV2682901 | single nucleotide variant | NM_005414.5(SKIL):c.848A>G (p.Gln283Arg) | not specified [RCV004283697] | uncertain significance | 3 | 170361179 | 170361179 | Human | | name |
| 401718474 | CV2708322 | single nucleotide variant | NM_005414.5(SKIL):c.344G>T (p.Ser115Ile) | not specified [RCV004313445] | uncertain significance | 3 | 170360675 | 170360675 | Human | | name |
| 401863001 | CV2775505 | single nucleotide variant | NM_005414.5(SKIL):c.494T>A (p.Leu165His) | not specified [RCV004350683] | uncertain significance | 3 | 170360825 | 170360825 | Human | | name |
| 401894790 | CV2785283 | single nucleotide variant | NM_005414.5(SKIL):c.704G>A (p.Arg235Gln) | not specified [RCV004357045] | uncertain significance | 3 | 170361035 | 170361035 | Human | | name |
| 405765663 | CV3332357 | single nucleotide variant | NM_005414.5(SKIL):c.442G>A (p.Val148Met) | not specified [RCV004456088] | uncertain significance | 3 | 170360773 | 170360773 | Human | | name |
| 405765670 | CV3332358 | single nucleotide variant | NM_005414.5(SKIL):c.773C>G (p.Thr258Ser) | not specified [RCV004456089] | uncertain significance | 3 | 170361104 | 170361104 | Human | | name |
| 597739540 | CV3596216 | single nucleotide variant | NM_005414.5(SKIL):c.370C>T (p.Leu124Phe) | not specified [RCV004864486] | uncertain significance | 3 | 170360701 | 170360701 | Human | | name |
| 597739568 | CV3599248 | single nucleotide variant | NM_005414.5(SKIL):c.851C>T (p.Pro284Leu) | not specified [RCV004864492] | uncertain significance | 3 | 170361182 | 170361182 | Human | | name |
| 597739573 | CV3599249 | single nucleotide variant | NM_005414.5(SKIL):c.460A>C (p.Ile154Leu) | not specified [RCV004864493] | uncertain significance | 3 | 170360791 | 170360791 | Human | | name |
| 597739578 | CV3599250 | single nucleotide variant | NM_005414.5(SKIL):c.628A>G (p.Ile210Val) | not specified [RCV004864494] | uncertain significance | 3 | 170360959 | 170360959 | Human | | name |
| 597739595 | CV3599254 | single nucleotide variant | NM_005414.5(SKIL):c.626G>A (p.Gly209Asp) | not specified [RCV004864498] | uncertain significance | 3 | 170360957 | 170360957 | Human | | name |
| 597739605 | CV3599257 | single nucleotide variant | NM_005414.5(SKIL):c.603G>C (p.Gln201His) | not specified [RCV004864500] | uncertain significance | 3 | 170360934 | 170360934 | Human | | name |
| 598258903 | CV3910975 | single nucleotide variant | NM_005414.5(SKIL):c.718C>T (p.Pro240Ser) | not specified [RCV005279480] | uncertain significance | 3 | 170361049 | 170361049 | Human | | name |
| 598258915 | CV3910977 | single nucleotide variant | NM_005414.5(SKIL):c.929C>T (p.Ser310Leu) | not specified [RCV005279482] | uncertain significance | 3 | 170361260 | 170361260 | Human | | name |
| 598258922 | CV3910978 | single nucleotide variant | NM_005414.5(SKIL):c.460A>G (p.Ile154Val) | not specified [RCV005279483] | uncertain significance | 3 | 170360791 | 170360791 | Human | | name |
| 598199724 | CV3910979 | single nucleotide variant | NM_005414.5(SKIL):c.761A>T (p.Gln254Leu) | not specified [RCV005268438] | uncertain significance | 3 | 170361092 | 170361092 | Human | | name |
| 155927113 | CV2208381 | single nucleotide variant | NM_005414.5(SKIL):c.1130C>T (p.Ser377Leu) | not specified [RCV004088812] | uncertain significance | 3 | 170381275 | 170381275 | Human | | name |
| 155943475 | CV2245043 | single nucleotide variant | NM_005414.5(SKIL):c.1988A>G (p.Lys663Arg) | not specified [RCV004104764] | uncertain significance | 3 | 170392350 | 170392350 | Human | | name |
| 156034382 | CV2256680 | single nucleotide variant | NM_005414.5(SKIL):c.1486A>C (p.Asn496His) | not specified [RCV004118858] | uncertain significance | 3 | 170390279 | 170390279 | Human | | name |
| 156079864 | CV2258108 | single nucleotide variant | NM_005414.5(SKIL):c.1723C>A (p.Gln575Lys) | not specified [RCV004121500] | uncertain significance | 3 | 170391087 | 170391087 | Human | | name |
| 156171338 | CV2312569 | single nucleotide variant | NM_005414.5(SKIL):c.1921G>T (p.Asp641Tyr) | not specified [RCV004169310] | uncertain significance | 3 | 170392283 | 170392283 | Human | | name |
| 156267059 | CV2329650 | single nucleotide variant | NM_005414.5(SKIL):c.1207T>C (p.Tyr403His) | not specified [RCV004180762] | uncertain significance | 3 | 170384543 | 170384543 | Human | | name |
| 156267075 | CV2329651 | single nucleotide variant | NM_005414.5(SKIL):c.1861T>G (p.Leu621Val) | not specified [RCV004180763] | uncertain significance | 3 | 170391225 | 170391225 | Human | | name |
| 156180476 | CV2374757 | single nucleotide variant | NM_005414.5(SKIL):c.1438A>G (p.Ile480Val) | not specified [RCV004225364] | likely benign | 3 | 170390231 | 170390231 | Human | | name |
| 156086870 | CV2388057 | single nucleotide variant | NM_005414.5(SKIL):c.1085G>A (p.Arg362Lys) | not specified [RCV004241186] | uncertain significance | 3 | 170361416 | 170361416 | Human | | name |
| 329381865 | CV2424246 | single nucleotide variant | NM_005414.5(SKIL):c.1424G>A (p.Arg475His) | not specified [RCV004252157] | likely benign | 3 | 170384760 | 170384760 | Human | | name |
| 329395574 | CV2458475 | single nucleotide variant | NM_005414.5(SKIL):c.1507A>C (p.Lys503Gln) | not specified [RCV004267885] | likely benign | 3 | 170390300 | 170390300 | Human | | name |
| 401769574 | CV2689834 | single nucleotide variant | NM_005414.5(SKIL):c.1535C>A (p.Ala512Asp) | not specified [RCV004297736] | uncertain significance | 3 | 170390328 | 170390328 | Human | | name |
| 401756843 | CV2696524 | single nucleotide variant | NM_005414.5(SKIL):c.1699T>G (p.Ser567Ala) | not specified [RCV004312591] | likely benign | 3 | 170391063 | 170391063 | Human | | name |
| 401776650 | CV2703303 | single nucleotide variant | NM_005414.5(SKIL):c.1973G>T (p.Arg658Leu) | not specified [RCV004315659] | uncertain significance | 3 | 170392335 | 170392335 | Human | | name |
| 401751583 | CV2727055 | single nucleotide variant | NM_005414.5(SKIL):c.1453A>G (p.Thr485Ala) | not specified [RCV004325430] | uncertain significance | 3 | 170390246 | 170390246 | Human | | name |
| 405765599 | CV3332346 | single nucleotide variant | NM_005414.5(SKIL):c.1082A>C (p.Lys361Thr) | not specified [RCV004456077] | uncertain significance | 3 | 170361413 | 170361413 | Human | | name |
| 405765612 | CV3332348 | single nucleotide variant | NM_005414.5(SKIL):c.1144A>G (p.Ile382Val) | not specified [RCV004456079] | uncertain significance | 3 | 170381289 | 170381289 | Human | | name |
| 405765617 | CV3332349 | single nucleotide variant | NM_005414.5(SKIL):c.1310A>T (p.Gln437Leu) | not specified [RCV004456080] | uncertain significance | 3 | 170384646 | 170384646 | Human | | name |
| 405765622 | CV3332350 | single nucleotide variant | NM_005414.5(SKIL):c.1369T>C (p.Ser457Pro) | not specified [RCV004456081] | uncertain significance | 3 | 170384705 | 170384705 | Human | | name |
| 405765628 | CV3332351 | single nucleotide variant | NM_005414.5(SKIL):c.1372C>T (p.Leu458Phe) | not specified [RCV004456082] | uncertain significance | 3 | 170384708 | 170384708 | Human | | name |
| 405765633 | CV3332352 | single nucleotide variant | NM_005414.5(SKIL):c.1608A>T (p.Arg536Ser) | not specified [RCV004456083] | uncertain significance | 3 | 170390401 | 170390401 | Human | | name |
| 405765640 | CV3332353 | single nucleotide variant | NM_005414.5(SKIL):c.1789T>C (p.Tyr597His) | not specified [RCV004456084] | uncertain significance | 3 | 170391153 | 170391153 | Human | | name |
| 405765645 | CV3332354 | single nucleotide variant | NM_005414.5(SKIL):c.1801A>G (p.Lys601Glu) | not specified [RCV004456085] | uncertain significance | 3 | 170391165 | 170391165 | Human | | name |
| 407502604 | CV3477020 | single nucleotide variant | NM_005414.5(SKIL):c.1593G>C (p.Met531Ile) | not specified [RCV004670011] | uncertain significance | 3 | 170390386 | 170390386 | Human | | name |
| 407519384 | CV3477021 | single nucleotide variant | NM_005414.5(SKIL):c.1300A>T (p.Ile434Leu) | not specified [RCV004676479] | uncertain significance | 3 | 170384636 | 170384636 | Human | | name |
| 407519386 | CV3477022 | single nucleotide variant | NM_005414.5(SKIL):c.1549C>T (p.Leu517Phe) | not specified [RCV004676480] | uncertain significance | 3 | 170390342 | 170390342 | Human | | name |
| 597739535 | CV3596215 | single nucleotide variant | NM_005414.5(SKIL):c.1013C>G (p.Thr338Arg) | not specified [RCV004864485] | uncertain significance | 3 | 170361344 | 170361344 | Human | | name |
| 597739558 | CV3599246 | single nucleotide variant | NM_005414.5(SKIL):c.1272G>C (p.Glu424Asp) | not specified [RCV004864490] | uncertain significance | 3 | 170384608 | 170384608 | Human | | name |
| 597739563 | CV3599247 | single nucleotide variant | NM_005414.5(SKIL):c.1984C>G (p.Gln662Glu) | not specified [RCV004864491] | uncertain significance | 3 | 170392346 | 170392346 | Human | | name |
| 597739585 | CV3599252 | single nucleotide variant | NM_005414.5(SKIL):c.1267A>G (p.Lys423Glu) | not specified [RCV004864496] | uncertain significance | 3 | 170384603 | 170384603 | Human | | name |
| 597739600 | CV3599255 | single nucleotide variant | NM_005414.5(SKIL):c.1145T>C (p.Ile382Thr) | not specified [RCV004864499] | uncertain significance | 3 | 170381290 | 170381290 | Human | | name |
| 598258908 | CV3910976 | single nucleotide variant | NM_005414.5(SKIL):c.1605G>A (p.Met535Ile) | not specified [RCV005279481] | uncertain significance | 3 | 170390398 | 170390398 | Human | | name |
| 598258934 | CV3910981 | single nucleotide variant | NM_005414.5(SKIL):c.1993G>A (p.Glu665Lys) | not specified [RCV005279485] | uncertain significance | 3 | 170392355 | 170392355 | Human | | name |
| 598258940 | CV3910982 | single nucleotide variant | NM_005414.5(SKIL):c.1779G>A (p.Met593Ile) | not specified [RCV005279486] | uncertain significance | 3 | 170391143 | 170391143 | Human | | name |
| 598258945 | CV3910983 | single nucleotide variant | NM_005414.5(SKIL):c.1459A>G (p.Lys487Glu) | not specified [RCV005279487] | uncertain significance | 3 | 170390252 | 170390252 | Human | | name |
| 15202164 | CV697923 | single nucleotide variant | NM_005414.5(SKIL):c.1997T>A (p.Met666Lys) | not provided [RCV000957836] | benign | 3 | 170392359 | 170392359 | Human | | name |
| 126771557 | CV1008793 | single nucleotide variant | NM_005458.8(GABBR2):c.1662+1G>A | Epileptic encephalopathy [RCV001323231]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV003458669]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV005253798]|not provided [RCV003130269] | uncertain significance | 9 | 98385639 | 98385639 | Human | 3 | trait |
| 9850310 | CV181444 | single nucleotide variant | NM_020212.2(WDR93):c.280T>C (p.Tyr94His) | Autistic spectrum disorder with isolated skills [RCV000162108] | likely pathogenic | 15 | 89702026 | 89702026 | Human | 1 | trait |
| 126737896 | CV1008797 | single nucleotide variant | NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln) | Epileptic encephalopathy [RCV001314041]|Tobacco addiction, susceptibility to [RCV002476454]|not provided [RCV002272449] | uncertain significance | 9 | 98708607 | 98708607 | Human | 3 | alternate_id |
| 151841904 | CV1362994 | single nucleotide variant | NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys) | Epileptic encephalopathy [RCV002015436]|Tobacco addiction, susceptibility to [RCV002497995] | uncertain significance | 9 | 98708617 | 98708617 | Human | 3 | alternate_id |
| 38490262 | CV959926 | single nucleotide variant | NM_005458.8(GABBR2):c.2412+3A>G | Epileptic encephalopathy [RCV001238756]|Tobacco addiction, susceptibility to [RCV002491780] | likely benign|uncertain significance | 9 | 98303238 | 98303238 | Human | 3 | alternate_id |
| 152978367 | CV1671555 | single nucleotide variant | NM_005458.8(GABBR2):c.*1906T>C | Neurodevelopmental disorder with poor language and loss of hand skills [RCV002227660] | uncertain significance | 9 | 98288678 | 98288678 | Human | 1 | trait |
| 155642609 | CV1707513 | single nucleotide variant | NM_005458.8(GABBR2):c.107C>T (p.Ala36Val) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV002288443] | uncertain significance | 9 | 98708631 | 98708631 | Human | 1 | trait |
| 155643338 | CV1707794 | single nucleotide variant | NM_005458.8(GABBR2):c.493G>T (p.Asp165Tyr) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV002289255] | likely pathogenic | 9 | 98542010 | 98542010 | Human | 1 | trait |
| 155796595 | CV1862937 | single nucleotide variant | NM_005458.8(GABBR2):c.1987T>G (p.Tyr663Asp) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV002470211] | uncertain significance | 9 | 98311112 | 98311112 | Human | 1 | trait |
| 243063926 | CV2405455 | single nucleotide variant | NM_005458.8(GABBR2):c.932T>C (p.Met311Thr) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV003142534] | uncertain significance | 9 | 98473213 | 98473213 | Human | 1 | trait |
| 408394023 | CV3526333 | single nucleotide variant | NM_005458.8(GABBR2):c.848G>T (p.Gly283Val) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV004771765] | uncertain significance | 9 | 98473297 | 98473297 | Human | 1 | trait |
| 596924987 | CV3536853 | single nucleotide variant | NM_005458.8(GABBR2):c.2683C>A (p.Gln895Lys) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV004785847] | uncertain significance | 9 | 98290727 | 98290727 | Human | 1 | trait |
| 598188874 | CV4008640 | single nucleotide variant | NM_005458.8(GABBR2):c.1213G>A (p.Glu405Lys) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV005396139] | uncertain significance | 9 | 98454004 | 98454004 | Human | 1 | trait |
| 598188922 | CV4008645 | single nucleotide variant | NM_005458.8(GABBR2):c.284G>T (p.Arg95Leu) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV005396144] | uncertain significance | 9 | 98708454 | 98708454 | Human | 1 | trait |
| 127309124 | CV1156311 | single nucleotide variant | NM_005458.8(GABBR2):c.2413-4G>C | Developmental and epileptic encephalopathy, 59 [RCV001702106]|Epileptic encephalopathy [RCV001517756]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001702107]|not provided [RCV001655764] | benign | 9 | 98299357 | 98299357 | Human | 4 | trait |
| 127309129 | CV1156313 | single nucleotide variant | NM_005458.8(GABBR2):c.2052C>T (p.Pro684=) | Developmental and epileptic encephalopathy, 59 [RCV001702602]|Epileptic encephalopathy [RCV001517757]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001702603]|not provided [RCV001615200] | benign | 9 | 98306298 | 98306298 | Human | 4 | trait |
| 127309137 | CV1156319 | single nucleotide variant | NM_005458.8(GABBR2):c.375T>G (p.Pro125=) | Developmental and epileptic encephalopathy, 59 [RCV001702604]|Epileptic encephalopathy [RCV001517759]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001702108]|not provided [RCV001595088] | benign | 9 | 98578019 | 98578019 | Human | 4 | trait |
| 150438453 | CV1257239 | single nucleotide variant | NM_005458.8(GABBR2):c.2005-22C>T | Developmental and epileptic encephalopathy, 59 [RCV001703050]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001703156]|not provided [RCV001678538] | benign | 9 | 98306367 | 98306367 | Human | 2 | trait |
| 152981428 | CV1676784 | microsatellite | NM_005458.8(GABBR2):c.33GCC[5] (p.Pro20del) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV003339940]|not specified [RCV002247849] | uncertain significance | 9 | 98708688 | 98708690 | Human | | trait |
| 153000616 | CV1683754 | single nucleotide variant | NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn) | Neurodevelopmental disorder with poor language and loss of hand skills [RCV002254373]|not provided [RCV004721029] | pathogenic|likely pathogenic | 9 | 98306266 | 98306266 | Human | 1 | trait |
| 155947603 | CV2062349 | single nucleotide variant | NM_005458.8(GABBR2):c.1000-3C>T | Epileptic encephalopathy [RCV002816079]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV004725392] | likely benign|uncertain significance | 9 | 98454220 | 98454220 | Human | 3 | trait |
| 13463069 | CV439573 | single nucleotide variant | NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) | Epileptic encephalopathy [RCV001061069]|GABBR2-related disorder [RCV003392345]|Inborn genetic diseases [RCV000622956]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV000590831]|Rett syndrome [RCV000515463]|not provided [RCV001200540] | pathogenic | 9 | 98371535 | 98371535 | Human | 5 | trait |
| 13517705 | CV488084 | single nucleotide variant | NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr) | Developmental and epileptic encephalopathy, 59 [RCV001729645]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV000590832] | pathogenic|likely pathogenic | 9 | 98306231 | 98306231 | Human | 2 | trait |
| 38490355 | CV946744 | deletion | NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1]) | Developmental and epileptic encephalopathy, 59 [RCV003225744]|Epileptic encephalopathy [RCV001238794]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV005225322] | uncertain significance|not provided | 9 | 98290647 | 98290658 | Human | 4 | trait |
| 40888403 | CV971439 | single nucleotide variant | NM_005458.8(GABBR2):c.143G>A (p.Arg48Gln) | Epileptic encephalopathy [RCV001314562]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV004799502] | uncertain significance | 9 | 98708595 | 98708595 | Human | 3 | trait |
| 40887412 | CV973733 | single nucleotide variant | NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln) | Inborn genetic diseases [RCV001266987]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV003389254] | likely pathogenic|uncertain significance|not provided | 9 | 98496510 | 98496510 | Human | 2 | trait |
