NM_005458.8(GABBR2):c.360A>G (p.Ala120=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001517760]|not provided [RCV001618284] |
Chr9:98578034 [GRCh38] Chr9:101340316 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2774_2776dup (p.Pro925dup) |
duplication |
Epileptic encephalopathy [RCV000544481] |
Chr9:98290633..98290634 [GRCh38] Chr9:101052915..101052916 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1450A>G (p.Ile484Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV000528913] |
Chr9:98388933 [GRCh38] Chr9:101151215 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1805G>C (p.Gly602Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV000551924]|not provided [RCV004760564] |
Chr9:98362803 [GRCh38] Chr9:101125085 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2229+8C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV000530500] |
Chr9:98306113 [GRCh38] Chr9:101068395 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
GABABR2, HAPLOTYPE, TATA (rs1435252, rs3780422, rs2779562, rs3750344) |
variation |
Tobacco addiction, susceptibility to [RCV000003496] |
Chr9:9q22.1 |
risk factor |
GABABR2, HAPLOTYPE, CACA (rs1435252, rs3780422, rs2779562, rs3750344) |
variation |
Nicotine dependence, protection against [RCV000003497] |
Chr9:9q22.1 |
protective |
NM_005458.8(GABBR2):c.2265G>A (p.Thr755=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000545240]|not provided [RCV004707322] |
Chr9:98303388 [GRCh38] Chr9:101065670 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2619A>G (p.Arg873=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000544461]|not provided [RCV001672832] |
Chr9:98293826 [GRCh38] Chr9:101056108 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.483T>C (p.Pro161=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000548303]|not provided [RCV001707727] |
Chr9:98542020 [GRCh38] Chr9:101304302 [GRCh37] Chr9:9q22.33 |
benign |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 |
copy number gain |
See cases [RCV000053752] |
Chr9:88522292..113687796 [GRCh38] Chr9:91137207..116450076 [GRCh37] Chr9:90327027..115489897 [NCBI36] Chr9:9q22.1-32 |
pathogenic |
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 |
copy number gain |
See cases [RCV000053774] |
Chr9:94184266..106730550 [GRCh38] Chr9:96946548..109492831 [GRCh37] Chr9:95986369..108532652 [NCBI36] Chr9:9q22.32-31.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005458.8(GABBR2):c.2122G>A (p.Ala708Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002628582] |
Chr9:98306228 [GRCh38] Chr9:101068510 [GRCh37] Chr9:100108331 [NCBI36] Chr9:9q22.33 |
uncertain significance|not provided |
NM_005458.7(GABBR2):c.636G>A (p.Arg212=) |
single nucleotide variant |
Malignant melanoma [RCV000068453] |
Chr9:98496509 [GRCh38] Chr9:101258791 [GRCh37] Chr9:100298612 [NCBI36] Chr9:9q22.33 |
not provided |
NM_005458.7(GABBR2):c.1542G>T (p.Met514Ile) |
single nucleotide variant |
Malignant melanoma [RCV000061842] |
Chr9:98385760 [GRCh38] Chr9:101148042 [GRCh37] Chr9:100187863 [NCBI36] Chr9:9q22.33 |
not provided |
NM_005458.7(GABBR2):c.1261G>A (p.Glu421Lys) |
single nucleotide variant |
Malignant melanoma [RCV000061843] |
Chr9:98406117 [GRCh38] Chr9:101168399 [GRCh37] Chr9:100208220 [NCBI36] Chr9:9q22.33 |
not provided |
NM_005458.7(GABBR2):c.2004+68C>T |
single nucleotide variant |
Lung cancer [RCV000107934] |
Chr9:98311027 [GRCh38] Chr9:101073309 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.7(GABBR2):c.1236+11740C>G |
single nucleotide variant |
Lung cancer [RCV000107935] |
Chr9:98442241 [GRCh38] Chr9:101204523 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.7(GABBR2):c.321+48354G>A |
single nucleotide variant |
Lung cancer [RCV000107936] |
Chr9:98660063 [GRCh38] Chr9:101422345 [GRCh37] Chr9:9q22.33 |
uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001293373] |
Chr9:97834573..107199088 [GRCh37] Chr9:9q22.32-31.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 |
copy number loss |
See cases [RCV000134375] |
Chr9:95061030..108695569 [GRCh38] Chr9:97823312..111457849 [GRCh37] Chr9:96863133..110497670 [NCBI36] Chr9:9q22.32-31.3 |
pathogenic |
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 |
copy number gain |
See cases [RCV000136788] |
Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 |
copy number gain |
See cases [RCV000139789] |
Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005458.8(GABBR2):c.2743G>T (p.Val915Phe) |
single nucleotide variant |
Epileptic encephalopathy [RCV005091807]|Inborn genetic diseases [RCV000623002] |
Chr9:98290667 [GRCh38] Chr9:101052949 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2282A>G (p.Gln761Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000623812] |
Chr9:98303371 [GRCh38] Chr9:101065653 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2595G>A (p.Gln865=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000637254] |
Chr9:98293850 [GRCh38] Chr9:101056132 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2584C>T (p.Pro862Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV000529433] |
Chr9:98293861 [GRCh38] Chr9:101056143 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV000590834] |
Chr9:98306236 [GRCh38] Chr9:101068518 [GRCh37] Chr9:9q22.33 |
pathogenic |
NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV000590833] |
Chr9:98306266 [GRCh38] Chr9:101068548 [GRCh37] Chr9:9q22.33 |
pathogenic |
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV000590835]|Epileptic encephalopathy [RCV003591755] |
Chr9:98306273 [GRCh38] Chr9:101068555 [GRCh37] Chr9:9q22.33 |
pathogenic|likely pathogenic |
NM_005458.8(GABBR2):c.1668G>A (p.Arg556=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000527835] |
Chr9:98371566 [GRCh38] Chr9:101133848 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2767G>A (p.Ala923Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV000637112] |
Chr9:98290643 [GRCh38] Chr9:101052925 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.2094C>T (p.Asn698=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000637216] |
Chr9:98306256 [GRCh38] Chr9:101068538 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1938G>A (p.Glu646=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000637282]|not provided [RCV003432673] |
Chr9:98311161 [GRCh38] Chr9:101073443 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.1767G>A (p.Lys589=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000541709]|not provided [RCV001644635] |
Chr9:98371467 [GRCh38] Chr9:101133749 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
not specified [RCV003986800] |
Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q22.33(chr9:100822154-101304167)x3 |
copy number gain |
See cases [RCV000448883] |
Chr9:100822154..101304167 [GRCh37] Chr9:9q22.33 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005458.8(GABBR2):c.1587C>T (p.Leu529=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000554091]|not provided [RCV001618726] |
Chr9:98385715 [GRCh38] Chr9:101147997 [GRCh37] Chr9:9q22.33 |
benign |
GRCh37/hg19 9q22.33(chr9:100625192-102129138)x1 |
copy number loss |
See cases [RCV000510500] |
Chr9:100625192..102129138 [GRCh37] Chr9:9q22.33 |
pathogenic |
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3 |
copy number gain |
See cases [RCV000510672] |
Chr9:97553176..102919383 [GRCh37] Chr9:9q22.32-31.1 |
likely pathogenic |
NM_005458.8(GABBR2):c.1237-8G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV000550353]|not provided [RCV001644634] |
Chr9:98406149 [GRCh38] Chr9:101168431 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1473C>T (p.Leu491=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000539054]|GABBR2-related disorder [RCV003925630]|not provided [RCV001637071] |
Chr9:98388910 [GRCh38] Chr9:101151192 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) |
copy number gain |
Global developmental delay [RCV000626548] |
Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001729645]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV000590832] |
Chr9:98306231 [GRCh38] Chr9:101068513 [GRCh37] Chr9:9q22.33 |
pathogenic|likely pathogenic |
NM_005458.8(GABBR2):c.954_959del (p.Asp318_Phe319del) |
deletion |
Epileptic encephalopathy [RCV000558420] |
Chr9:98473186..98473191 [GRCh38] Chr9:101235468..101235473 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.30C>T (p.Pro10=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000559438] |
Chr9:98708708 [GRCh38] Chr9:101470990 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2660+10T>G |
single nucleotide variant |
Epileptic encephalopathy [RCV000534327]|GABBR2-related disorder [RCV004752937] |
Chr9:98293775 [GRCh38] Chr9:101056057 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) |
single nucleotide variant |
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] |
Chr9:98371535 [GRCh38] Chr9:101133817 [GRCh37] Chr9:9q22.33 |
pathogenic |
NM_005458.8(GABBR2):c.1894-10_1894-9del |
microsatellite |
Epileptic encephalopathy [RCV000637205]|GABBR2-related disorder [RCV003905717]|not provided [RCV001799692] |
Chr9:98311214..98311215 [GRCh38] Chr9:101073496..101073497 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.201G>A (p.Glu67=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000637273]|not provided [RCV001549618] |
Chr9:98708537 [GRCh38] Chr9:101470819 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.599C>T (p.Thr200Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV000637114]|GABBR2-related disorder [RCV003980233] |
Chr9:98541904 [GRCh38] Chr9:101304186 [GRCh37] Chr9:9q22.33 |
benign|likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2295T>C (p.Asn765=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000555666]|not provided [RCV001562275] |
Chr9:98303358 [GRCh38] Chr9:101065640 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2631T>C (p.Asp877=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000559157]|not provided [RCV001591219] |
Chr9:98293814 [GRCh38] Chr9:101056096 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.384G>A (p.Leu128=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002060310] |
Chr9:98578010 [GRCh38] Chr9:101340292 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1237-18GTTTT[4] |
microsatellite |
Epileptic encephalopathy [RCV000535583] |
Chr9:98406144..98406145 [GRCh38] Chr9:101168426..101168427 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1771-9G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV000637225]|GABBR2-related disorder [RCV003937917]|not provided [RCV001557339] |
Chr9:98362846 [GRCh38] Chr9:101125128 [GRCh37] Chr9:9q22.33 |
likely benign |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005458.8(GABBR2):c.2488C>T (p.His830Tyr) |
single nucleotide variant |
not provided [RCV000658075] |
Chr9:98299278 [GRCh38] Chr9:101061560 [GRCh37] Chr9:9q22.33 |
uncertain significance |
GRCh37/hg19 9q22.33(chr9:101179297-101405561)x3 |
copy number gain |
not provided [RCV000683099] |
Chr9:101179297..101405561 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2635A>G (p.Ile879Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV000686966]|Inborn genetic diseases [RCV002544766] |
Chr9:98293810 [GRCh38] Chr9:101056092 [GRCh37] Chr9:9q22.33 |
benign|likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1808G>T (p.Gly603Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV000685240] |
Chr9:98362800 [GRCh38] Chr9:101125082 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.670A>G (p.Ile224Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV000689172]|Inborn genetic diseases [RCV004026317] |
Chr9:98496475 [GRCh38] Chr9:101258757 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.400G>A (p.Val134Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV000689255]|Inborn genetic diseases [RCV004026318] |
Chr9:98577994 [GRCh38] Chr9:101340276 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1944_1945del (p.Cys648_Glu649delinsTer) |
microsatellite |
Epileptic encephalopathy [RCV000686107] |
Chr9:98311154..98311155 [GRCh38] Chr9:101073436..101073437 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1771-716_1893+5del |
deletion |
Epileptic encephalopathy [RCV000689592] |
Chr9:98362710..98363553 [GRCh38] Chr9:101124992..101125835 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001270136]|Epileptic encephalopathy [RCV000692429]|Inborn genetic diseases [RCV004972862]|not provided [RCV003457737] |
Chr9:98708682 [GRCh38] Chr9:101470964 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.399C>T (p.Gly133=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000703909]|GABBR2-related disorder [RCV003945723] |
Chr9:98577995 [GRCh38] Chr9:101340277 [GRCh37] Chr9:9q22.33 |
benign|likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1423C>T (p.Arg475Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV000698628] |
Chr9:98388960 [GRCh38] Chr9:101151242 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2755G>A (p.Val919Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV000703968] |
Chr9:98290655 [GRCh38] Chr9:101052937 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.2776C>T (p.Arg926Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV000702045] |
Chr9:98290634 [GRCh38] Chr9:101052916 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1045G>A (p.Val349Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV000698124] |
Chr9:98454172 [GRCh38] Chr9:101216454 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2328G>A (p.Ser776=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000706093] |
Chr9:98303325 [GRCh38] Chr9:101065607 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.2230-169G>A |
single nucleotide variant |
not provided [RCV001571034] |
Chr9:98303592 [GRCh38] Chr9:101065874 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+98dup |
duplication |
not provided [RCV001537603] |
Chr9:98306012..98306013 [GRCh38] Chr9:101068294..101068295 [GRCh37] Chr9:9q22.33 |
likely benign |
GRCh37/hg19 9q22.33(chr9:101307334-101311079)x0 |
copy number loss |
not provided [RCV000748545] |
Chr9:101307334..101311079 [GRCh37] Chr9:9q22.33 |
benign |
GRCh37/hg19 9q22.33(chr9:101309058-101316724)x1 |
copy number loss |
not provided [RCV000748546] |
Chr9:101309058..101316724 [GRCh37] Chr9:9q22.33 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005458.8(GABBR2):c.1663-78C>T |
single nucleotide variant |
not provided [RCV001609654] |
Chr9:98371649 [GRCh38] Chr9:101133931 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.*7G>A |
single nucleotide variant |
GABBR2-related disorder [RCV003956318]|not provided [RCV001665772] |
Chr9:98290577 [GRCh38] Chr9:101052859 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.2005-22C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001703050]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001703156]|not provided [RCV001678538] |
Chr9:98306367 [GRCh38] Chr9:101068649 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1529+177T>C |
single nucleotide variant |
not provided [RCV001691369] |
Chr9:98388677 [GRCh38] Chr9:101150959 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1000-123T>C |
single nucleotide variant |
not provided [RCV001724465] |
Chr9:98454340 [GRCh38] Chr9:101216622 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2660+23T>C |
single nucleotide variant |
not provided [RCV001724472] |
Chr9:98293762 [GRCh38] Chr9:101056044 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.460-169C>T |
single nucleotide variant |
not provided [RCV001584780] |
Chr9:98542212 [GRCh38] Chr9:101304494 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1662+111C>G |
single nucleotide variant |
not provided [RCV001609980] |
Chr9:98385529 [GRCh38] Chr9:101147811 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1378+91C>T |
single nucleotide variant |
not provided [RCV001571159] |
Chr9:98394084 [GRCh38] Chr9:101156366 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2543-241C>T |
single nucleotide variant |
not provided [RCV001571408] |
Chr9:98294143 [GRCh38] Chr9:101056425 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.*305A>C |
single nucleotide variant |
not provided [RCV001534496] |
Chr9:98290279 [GRCh38] Chr9:101052561 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2412+5C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV000917205] |
Chr9:98303236 [GRCh38] Chr9:101065518 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1894-338T>C |
single nucleotide variant |
not provided [RCV001583821] |
Chr9:98311543 [GRCh38] Chr9:101073825 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2661-92C>T |
single nucleotide variant |
not provided [RCV001693090] |
Chr9:98290841 [GRCh38] Chr9:101053123 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1236+280T>C |
single nucleotide variant |
not provided [RCV001648900] |
Chr9:98453701 [GRCh38] Chr9:101215983 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.*308A>C |
single nucleotide variant |
not provided [RCV001574433] |
Chr9:98290276 [GRCh38] Chr9:101052558 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1345C>G (p.Leu449Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001052679] |
Chr9:98394208 [GRCh38] Chr9:101156490 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.324C>T (p.Cys108=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002070398]|not provided [RCV001564584] |
Chr9:98578070 [GRCh38] Chr9:101340352 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.441A>C (p.Gln147His) |
single nucleotide variant |
Epileptic encephalopathy [RCV001054831]|Inborn genetic diseases [RCV004977940] |
Chr9:98577953 [GRCh38] Chr9:101340235 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.137C>G (p.Ala46Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV001055111] |
Chr9:98708601 [GRCh38] Chr9:101470883 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2412+19G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002073232]|not provided [RCV001692590] |
Chr9:98303222 [GRCh38] Chr9:101065504 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2179G>A (p.Val727Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV001059655] |
Chr9:98306171 [GRCh38] Chr9:101068453 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.663C>T (p.Gly221=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000884142]|not provided [RCV001683687] |
Chr9:98496482 [GRCh38] Chr9:101258764 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.330C>T (p.Asn110=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000878623]|not provided [RCV001655638] |
Chr9:98578064 [GRCh38] Chr9:101340346 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.884C>T (p.Thr295Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV000883214]|Inborn genetic diseases [RCV002539314]|not provided [RCV001655639] |
Chr9:98473261 [GRCh38] Chr9:101235543 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.2643T>C (p.Asp881=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000920196] |
Chr9:98293802 [GRCh38] Chr9:101056084 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1662C>T (p.Thr554=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000959686]|GABBR2-related disorder [RCV003970812]|not provided [RCV001539532] |
Chr9:98385640 [GRCh38] Chr9:101147922 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.189G>T (p.Pro63=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000882585] |
Chr9:98708549 [GRCh38] Chr9:101470831 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.606G>A (p.Thr202=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000946170]|not provided [RCV003424487] |
Chr9:98541897 [GRCh38] Chr9:101304179 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1096G>A (p.Ala366Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001050223] |
Chr9:98454121 [GRCh38] Chr9:101216403 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2618G>A (p.Arg873Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001033978]|Inborn genetic diseases [RCV003243395] |
Chr9:98293827 [GRCh38] Chr9:101056109 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2296C>G (p.Gln766Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034037] |
Chr9:98303357 [GRCh38] Chr9:101065639 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.43C>T (p.Pro15Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034071] |
Chr9:98708695 [GRCh38] Chr9:101470977 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1784A>G (p.Gln595Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034089] |
Chr9:98362824 [GRCh38] Chr9:101125106 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.23G>A (p.Gly8Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034098]|not provided [RCV001772205] |
Chr9:98708715 [GRCh38] Chr9:101470997 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2264C>T (p.Thr755Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034101] |
Chr9:98303389 [GRCh38] Chr9:101065671 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2554G>A (p.Ala852Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034294] |
Chr9:98293891 [GRCh38] Chr9:101056173 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1181C>T (p.Thr394Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034309] |
Chr9:98454036 [GRCh38] Chr9:101216318 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.943A>G (p.Ile315Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034426] |
Chr9:98473202 [GRCh38] Chr9:101235484 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034448]|not provided [RCV001566988]|not specified [RCV004702589] |
Chr9:98311175 [GRCh38] Chr9:101073457 [GRCh37] Chr9:9q22.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001518897]|not provided [RCV001812271] |
Chr9:98496481 [GRCh38] Chr9:101258763 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.33GCC[8] (p.Pro19_Pro20dup) |
microsatellite |
Epileptic encephalopathy [RCV001049502]|not provided [RCV004597954] |
Chr9:98708687..98708688 [GRCh38] Chr9:101470969..101470970 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.33GCC[3] (p.Pro18_Pro20del) |
microsatellite |
Epileptic encephalopathy [RCV000792926] |
Chr9:98708688..98708696 [GRCh38] Chr9:101470970..101470978 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 |
copy number gain |
not provided [RCV000845900] |
Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005458.8(GABBR2):c.1821C>T (p.Ile607=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000902807]|not provided [RCV002267039] |
Chr9:98362787 [GRCh38] Chr9:101125069 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.630+8C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV000929382] |
Chr9:98541865 [GRCh38] Chr9:101304147 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1977C>T (p.Ile659=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000917906]|GABBR2-related disorder [RCV003970457]|not provided [RCV001672982] |
Chr9:98311122 [GRCh38] Chr9:101073404 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.48G>A (p.Pro16=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000893291]|not provided [RCV001577766] |
Chr9:98708690 [GRCh38] Chr9:101470972 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1530-6T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV000960417]|not provided [RCV001615087] |
Chr9:98385778 [GRCh38] Chr9:101148060 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1044C>T (p.Gly348=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000951856]|not provided [RCV001546937] |
Chr9:98454173 [GRCh38] Chr9:101216455 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.631-8G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001406888] |
Chr9:98496522 [GRCh38] Chr9:101258804 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.51A>G (p.Pro17=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000893290]|not provided [RCV001664534] |
Chr9:98708687 [GRCh38] Chr9:101470969 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.1801G>A (p.Val601Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV000804889] |
Chr9:98362807 [GRCh38] Chr9:101125089 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.751A>G (p.Ile251Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV000823833]|not provided [RCV004588299] |
Chr9:98480979 [GRCh38] Chr9:101243261 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1925G>A (p.Arg642His) |
single nucleotide variant |
Epileptic encephalopathy [RCV000814305] |
Chr9:98311174 [GRCh38] Chr9:101073456 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.422T>C (p.Ile141Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV000822731]|not provided [RCV001766747] |
Chr9:98577972 [GRCh38] Chr9:101340254 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2575G>A (p.Asp859Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV000796798] |
Chr9:98293870 [GRCh38] Chr9:101056152 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.1896G>A (p.Pro632=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000822217]|not provided [RCV001093091] |
Chr9:98311203 [GRCh38] Chr9:101073485 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.2727C>T (p.Gly909=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001054086] |
Chr9:98290683 [GRCh38] Chr9:101052965 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.1476G>T (p.Gly492=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000820693] |
Chr9:98388907 [GRCh38] Chr9:101151189 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1358A>G (p.Asn453Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV000801030]|Inborn genetic diseases [RCV004028049]|not provided [RCV001592987] |
Chr9:98394195 [GRCh38] Chr9:101156477 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 |
copy number gain |
not provided [RCV000847808] |
Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9q22.33(chr9:100930948-101095886)x3 |
copy number gain |
not provided [RCV000849184] |
Chr9:100930948..101095886 [GRCh37] Chr9:9q22.33 |
uncertain significance |
GRCh37/hg19 9q22.33(chr9:100930948-101095886)x3 |
copy number gain |
not provided [RCV000849597] |
Chr9:100930948..101095886 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.322T>C (p.Cys108Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV001203134] |
Chr9:98578072 [GRCh38] Chr9:101340354 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.856G>A (p.Glu286Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001230158] |
Chr9:98473289 [GRCh38] Chr9:101235571 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1]) |
deletion |
Developmental and epileptic encephalopathy, 59 [RCV003225744]|Epileptic encephalopathy [RCV001238794]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV005225322] |
Chr9:98290647..98290658 [GRCh38] Chr9:101052929..101052940 [GRCh37] Chr9:9q22.33 |
uncertain significance|not provided |
NM_005458.8(GABBR2):c.137C>T (p.Ala46Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001223854] |
Chr9:98708601 [GRCh38] Chr9:101470883 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.58C>T (p.Pro20Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001220820]|Inborn genetic diseases [RCV004032399]|not provided [RCV003433084] |
Chr9:98708680 [GRCh38] Chr9:101470962 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1304G>A (p.Arg435Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001209607] |
Chr9:98394249 [GRCh38] Chr9:101156531 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.1803G>A (p.Val601=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001221057] |
Chr9:98362805 [GRCh38] Chr9:101125087 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.709T>G (p.Cys237Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV001226979] |
Chr9:98496436 [GRCh38] Chr9:101258718 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.269A>G (p.Asn90Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001221414] |
Chr9:98708469 [GRCh38] Chr9:101470751 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.158G>A (p.Ser53Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001220981]|not provided [RCV003332306] |
Chr9:98708580 [GRCh38] Chr9:101470862 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1921A>G (p.Ile641Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001203933]|not provided [RCV001548650] |
Chr9:98311178 [GRCh38] Chr9:101073460 [GRCh37] Chr9:9q22.33 |
benign|likely benign|uncertain significance |
NM_005458.8(GABBR2):c.703G>A (p.Asp235Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001211303]|not provided [RCV002264222] |
Chr9:98496442 [GRCh38] Chr9:101258724 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2412+3A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV001238756]|Tobacco addiction, susceptibility to [RCV002491780] |
Chr9:98303238 [GRCh38] Chr9:101065520 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.304C>A (p.Arg102=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001224563] |
Chr9:98708434 [GRCh38] Chr9:101470716 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2221G>A (p.Val741Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001225555] |
Chr9:98306129 [GRCh38] Chr9:101068411 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1032C>G (p.Asn344Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001230554] |
Chr9:98454185 [GRCh38] Chr9:101216467 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1520G>C (p.Arg507Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV001222183] |
Chr9:98388863 [GRCh38] Chr9:101151145 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1036C>T (p.Arg346Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001215534] |
Chr9:98454181 [GRCh38] Chr9:101216463 [GRCh37] Chr9:9q22.33 |
uncertain significance |
GRCh37/hg19 9q22.33(chr9:100936047-101094912)x3 |
copy number gain |
not provided [RCV000846960] |
Chr9:100936047..101094912 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2029G>A (p.Glu677Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV004785080] |
Chr9:98306321 [GRCh38] Chr9:101068603 [GRCh37] Chr9:9q22.33 |
likely pathogenic |
NM_005458.8(GABBR2):c.2542+4A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV001246972]|not provided [RCV001557357] |
Chr9:98299220 [GRCh38] Chr9:101061502 [GRCh37] Chr9:9q22.33 |
benign|likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV003128222] |
Chr9:98306278 [GRCh38] Chr9:101068560 [GRCh37] Chr9:9q22.33 |
likely pathogenic |
NM_005458.8(GABBR2):c.1047G>A (p.Val349=) |
single nucleotide variant |
not provided [RCV004699031] |
Chr9:98454170 [GRCh38] Chr9:101216452 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.459+175A>G |
single nucleotide variant |
not provided [RCV001549459] |
Chr9:98577760 [GRCh38] Chr9:101340042 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+225T>C |
single nucleotide variant |
not provided [RCV001575861] |
Chr9:98305896 [GRCh38] Chr9:101068178 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.999+105A>G |
single nucleotide variant |
not provided [RCV001608906] |
Chr9:98473041 [GRCh38] Chr9:101235323 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2660+104C>T |
single nucleotide variant |
not provided [RCV001546663] |
Chr9:98293681 [GRCh38] Chr9:101055963 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2754C>T (p.Cys918=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002568348]|not provided [RCV001553465] |
Chr9:98290656 [GRCh38] Chr9:101052938 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.799-164A>T |
single nucleotide variant |
not provided [RCV001714810] |
Chr9:98473510 [GRCh38] Chr9:101235792 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.733-85A>C |
single nucleotide variant |
not provided [RCV001596226] |
Chr9:98481082 [GRCh38] Chr9:101243364 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1529+196A>G |
single nucleotide variant |
not provided [RCV001635917] |
Chr9:98388658 [GRCh38] Chr9:101150940 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2229+312del |
deletion |
not provided [RCV001695586] |
Chr9:98305809 [GRCh38] Chr9:101068091 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.-173CGC[4] |
microsatellite |
not provided [RCV001671205] |
Chr9:98708896..98708898 [GRCh38] Chr9:101471178..101471180 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.321+51G>T |
single nucleotide variant |
not provided [RCV001619621] |
Chr9:98708366 [GRCh38] Chr9:101470648 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.*308_*309insG |
insertion |
not provided [RCV001556311] |
Chr9:98290275..98290276 [GRCh38] Chr9:101052557..101052558 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1663-301_1663-294del |
microsatellite |
not provided [RCV001688843] |
Chr9:98371865..98371872 [GRCh38] Chr9:101134147..101134154 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1771-286G>A |
single nucleotide variant |
not provided [RCV001649159] |
Chr9:98363123 [GRCh38] Chr9:101125405 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1529+137G>A |
single nucleotide variant |
not provided [RCV001562192] |
Chr9:98388717 [GRCh38] Chr9:101150999 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2661-56T>C |
single nucleotide variant |
not provided [RCV001669775] |
Chr9:98290805 [GRCh38] Chr9:101053087 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.631-185G>A |
single nucleotide variant |
not provided [RCV001693569] |
Chr9:98496699 [GRCh38] Chr9:101258981 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.894C>T (p.Asn298=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002072047]|GABBR2-related disorder [RCV003956242]|not provided [RCV001551353] |
Chr9:98473251 [GRCh38] Chr9:101235533 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.1000-300G>A |
single nucleotide variant |
not provided [RCV001557341] |
Chr9:98454517 [GRCh38] Chr9:101216799 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1379-38G>A |
single nucleotide variant |
not provided [RCV001589486] |
Chr9:98389042 [GRCh38] Chr9:101151324 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1662+60C>T |
single nucleotide variant |
not provided [RCV001594196] |
Chr9:98385580 [GRCh38] Chr9:101147862 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1770+201G>A |
single nucleotide variant |
not provided [RCV001689382] |
Chr9:98371263 [GRCh38] Chr9:101133545 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.459+51C>G |
single nucleotide variant |
not provided [RCV001716495] |
Chr9:98577884 [GRCh38] Chr9:101340166 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.*300A>C |
single nucleotide variant |
not provided [RCV001640038] |
Chr9:98290284 [GRCh38] Chr9:101052566 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2661-13T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002073159]|not provided [RCV001669975] |
Chr9:98290762 [GRCh38] Chr9:101053044 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1770+29T>C |
single nucleotide variant |
not provided [RCV001594518] |
Chr9:98371435 [GRCh38] Chr9:101133717 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2004+40T>A |
single nucleotide variant |
not provided [RCV001724446] |
Chr9:98311055 [GRCh38] Chr9:101073337 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2318C>T (p.Thr773Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV002073012]|GABBR2-related disorder [RCV003968423]|not provided [RCV001654861] |
Chr9:98303335 [GRCh38] Chr9:101065617 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001882684]|not provided [RCV001574103] |
Chr9:98708713 [GRCh38] Chr9:101470995 [GRCh37] Chr9:9q22.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005458.8(GABBR2):c.1297+110A>G |
single nucleotide variant |
not provided [RCV001559575] |
Chr9:98405971 [GRCh38] Chr9:101168253 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2661-45G>C |
single nucleotide variant |
not provided [RCV001609788] |
Chr9:98290794 [GRCh38] Chr9:101053076 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1530-319G>A |
single nucleotide variant |
not provided [RCV001686245] |
Chr9:98386091 [GRCh38] Chr9:101148373 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2661-20C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002071954]|not provided [RCV001540639] |
Chr9:98290769 [GRCh38] Chr9:101053051 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.1529+193CA[19] |
microsatellite |
not provided [RCV001652642] |
Chr9:98388620..98388623 [GRCh38] Chr9:101150902..101150905 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1545G>C (p.Ser515=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000939159] |
Chr9:98385757 [GRCh38] Chr9:101148039 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1329C>T (p.Asn443=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000886494] |
Chr9:98394224 [GRCh38] Chr9:101156506 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1212C>T (p.Asn404=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000955112]|not provided [RCV001655650] |
Chr9:98454005 [GRCh38] Chr9:101216287 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.1383C>T (p.Ser461=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000952161]|not provided [RCV001731990] |
Chr9:98389000 [GRCh38] Chr9:101151282 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2115C>T (p.Ile705=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000930572] |
Chr9:98306235 [GRCh38] Chr9:101068517 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.480G>A (p.Thr160=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001406972] |
Chr9:98542023 [GRCh38] Chr9:101304305 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2076C>T (p.Ile692=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000953843] |
Chr9:98306274 [GRCh38] Chr9:101068556 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2543-6A>C |
single nucleotide variant |
Epileptic encephalopathy [RCV001495799] |
Chr9:98293908 [GRCh38] Chr9:101056190 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1950C>T (p.Asn650=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000930641] |
Chr9:98311149 [GRCh38] Chr9:101073431 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1653A>G (p.Thr551=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001448332] |
Chr9:98385649 [GRCh38] Chr9:101147931 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.381C>T (p.His127=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000981356] |
Chr9:98578013 [GRCh38] Chr9:101340295 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1530-7T>G |
single nucleotide variant |
Epileptic encephalopathy [RCV000880625] |
Chr9:98385779 [GRCh38] Chr9:101148061 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2127C>T (p.Val709=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001422503] |
Chr9:98306223 [GRCh38] Chr9:101068505 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2121C>T (p.Ala707=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000940632] |
Chr9:98306229 [GRCh38] Chr9:101068511 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1925G>T (p.Arg642Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001060781]|Inborn genetic diseases [RCV004031929]|not provided [RCV003433005] |
Chr9:98311174 [GRCh38] Chr9:101073456 [GRCh37] Chr9:9q22.33 |
benign|likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1028A>G (p.Asn343Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001244869] |
Chr9:98454189 [GRCh38] Chr9:101216471 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.910C>T (p.Arg304Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001219910] |
Chr9:98473235 [GRCh38] Chr9:101235517 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1889T>C (p.Met630Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001220414] |
Chr9:98362719 [GRCh38] Chr9:101125001 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.98T>C (p.Leu33Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV001231246] |
Chr9:98708640 [GRCh38] Chr9:101470922 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.109C>T (p.Pro37Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001217660] |
Chr9:98708629 [GRCh38] Chr9:101470911 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1738G>T (p.Ala580Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001227663] |
Chr9:98371496 [GRCh38] Chr9:101133778 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.890C>G (p.Ala297Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV001060146] |
Chr9:98473255 [GRCh38] Chr9:101235537 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.420C>T (p.Ser140=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001502306] |
Chr9:98577974 [GRCh38] Chr9:101340256 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.411C>T (p.Ser137=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001460894] |
Chr9:98577983 [GRCh38] Chr9:101340265 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.354C>T (p.Tyr118=) |
single nucleotide variant |
Epileptic encephalopathy [RCV000891077] |
Chr9:98578040 [GRCh38] Chr9:101340322 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1379-21T>A |
single nucleotide variant |
not provided [RCV001540630] |
Chr9:98389025 [GRCh38] Chr9:101151307 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1378+25G>A |
single nucleotide variant |
not provided [RCV001563574] |
Chr9:98394150 [GRCh38] Chr9:101156432 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+193CA[23] |
microsatellite |
not provided [RCV001552350] |
Chr9:98388619..98388620 [GRCh38] Chr9:101150901..101150902 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2728G>A (p.Val910Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV002072052]|not provided [RCV001552390] |
Chr9:98290682 [GRCh38] Chr9:101052964 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+193CA[17] |
microsatellite |
not provided [RCV001640864] |
Chr9:98388620..98388627 [GRCh38] Chr9:101150902..101150909 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2413-30C>G |
single nucleotide variant |
not provided [RCV001649257] |
Chr9:98299383 [GRCh38] Chr9:101061665 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2660+58A>C |
single nucleotide variant |
not provided [RCV001620188] |
Chr9:98293727 [GRCh38] Chr9:101056009 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2413-301T>G |
single nucleotide variant |
not provided [RCV001689240] |
Chr9:98299654 [GRCh38] Chr9:101061936 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2542+137G>A |
single nucleotide variant |
not provided [RCV001550494] |
Chr9:98299087 [GRCh38] Chr9:101061369 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.143G>A (p.Arg48Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001314562]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV004799502] |
Chr9:98708595 [GRCh38] Chr9:101470877 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.*310A>C |
single nucleotide variant |
not provided [RCV001684708] |
Chr9:98290274 [GRCh38] Chr9:101052556 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2230-102A>G |
single nucleotide variant |
not provided [RCV001695963] |
Chr9:98303525 [GRCh38] Chr9:101065807 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2229+98_2229+99dup |
duplication |
not provided [RCV001671962] |
Chr9:98306012..98306013 [GRCh38] Chr9:101068294..101068295 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1529+193CA[20] |
microsatellite |
not provided [RCV001688648] |
Chr9:98388620..98388621 [GRCh38] Chr9:101150902..101150903 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.631-85A>G |
single nucleotide variant |
not provided [RCV001674950] |
Chr9:98496599 [GRCh38] Chr9:101258881 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1771-314A>G |
single nucleotide variant |
not provided [RCV001638940] |
Chr9:98363151 [GRCh38] Chr9:101125433 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1771-259C>T |
single nucleotide variant |
not provided [RCV001638942] |
Chr9:98363096 [GRCh38] Chr9:101125378 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.631-35A>C |
single nucleotide variant |
not provided [RCV001678267] |
Chr9:98496549 [GRCh38] Chr9:101258831 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.*2G>A |
single nucleotide variant |
not provided [RCV001581748] |
Chr9:98290582 [GRCh38] Chr9:101052864 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.630+305dup |
duplication |
not provided [RCV001639375] |
Chr9:98541567..98541568 [GRCh38] Chr9:101303849..101303850 [GRCh37] Chr9:9q22.33 |
benign |
GRCh37/hg19 9q22.33(chr9:100953443-102003384)x3 |
copy number gain |
not provided [RCV001006249] |
Chr9:100953443..102003384 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1237-214T>C |
single nucleotide variant |
not provided [RCV001641285] |
Chr9:98406355 [GRCh38] Chr9:101168637 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1237-154T>C |
single nucleotide variant |
not provided [RCV001678318] |
Chr9:98406295 [GRCh38] Chr9:101168577 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1298-263T>C |
single nucleotide variant |
not provided [RCV001620203] |
Chr9:98394518 [GRCh38] Chr9:101156800 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.459+309G>C |
single nucleotide variant |
not provided [RCV001677521] |
Chr9:98577626 [GRCh38] Chr9:101339908 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2413-170C>T |
single nucleotide variant |
not provided [RCV001661118] |
Chr9:98299523 [GRCh38] Chr9:101061805 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.631-60G>A |
single nucleotide variant |
not provided [RCV001596385] |
Chr9:98496574 [GRCh38] Chr9:101258856 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.459+213A>G |
single nucleotide variant |
not provided [RCV001676569] |
Chr9:98577722 [GRCh38] Chr9:101340004 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2786A>G (p.His929Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV002073004]|not provided [RCV001656541] |
Chr9:98290624 [GRCh38] Chr9:101052906 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2412+204C>T |
single nucleotide variant |
not provided [RCV001674075] |
Chr9:98303037 [GRCh38] Chr9:101065319 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2413-14C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002070463]|not provided [RCV001598898] |
Chr9:98299367 [GRCh38] Chr9:101061649 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1236+86A>G |
single nucleotide variant |
not provided [RCV001677083] |
Chr9:98453895 [GRCh38] Chr9:101216177 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2229+142G>A |
single nucleotide variant |
not provided [RCV001687611] |
Chr9:98305979 [GRCh38] Chr9:101068261 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2413-316T>G |
single nucleotide variant |
not provided [RCV001636330] |
Chr9:98299669 [GRCh38] Chr9:101061951 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.149C>A (p.Pro50Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001067791] |
Chr9:98708589 [GRCh38] Chr9:101470871 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.732+5G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV001061509] |
Chr9:98496408 [GRCh38] Chr9:101258690 [GRCh37] Chr9:9q22.33 |
likely pathogenic|uncertain significance |
NM_005458.8(GABBR2):c.339G>T (p.Gly113=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001057070]|not provided [RCV003883542] |
Chr9:98578055 [GRCh38] Chr9:101340337 [GRCh37] Chr9:9q22.33 |
benign|likely benign|uncertain significance |
NM_005458.8(GABBR2):c.11C>T (p.Pro4Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001062727] |
Chr9:98708727 [GRCh38] Chr9:101471009 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1844G>A (p.Trp615Ter) |
single nucleotide variant |
not provided [RCV001171569] |
Chr9:98362764 [GRCh38] Chr9:101125046 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.732+43A>G |
single nucleotide variant |
not provided [RCV001567537] |
Chr9:98496370 [GRCh38] Chr9:101258652 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1893+234_1893+235dup |
duplication |
not provided [RCV001694852] |
Chr9:98362479..98362480 [GRCh38] Chr9:101124761..101124762 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2230-162A>G |
single nucleotide variant |
not provided [RCV001567928] |
Chr9:98303585 [GRCh38] Chr9:101065867 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.999+73A>G |
single nucleotide variant |
not provided [RCV001695288] |
Chr9:98473073 [GRCh38] Chr9:101235355 [GRCh37] Chr9:9q22.33 |
benign |
NC_000009.12:g.98709401C>T |
single nucleotide variant |
not provided [RCV001707252] |
Chr9:98709401 [GRCh38] Chr9:101471683 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.999+283T>A |
single nucleotide variant |
not provided [RCV001691694] |
Chr9:98472863 [GRCh38] Chr9:101235145 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.459+270C>T |
single nucleotide variant |
not provided [RCV001679925] |
Chr9:98577665 [GRCh38] Chr9:101339947 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.798+193A>G |
single nucleotide variant |
not provided [RCV001693409] |
Chr9:98480739 [GRCh38] Chr9:101243021 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1770+175G>A |
single nucleotide variant |
not provided [RCV001724448] |
Chr9:98371289 [GRCh38] Chr9:101133571 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2413-295G>T |
single nucleotide variant |
not provided [RCV001724452] |
Chr9:98299648 [GRCh38] Chr9:101061930 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2229+108del |
deletion |
not provided [RCV001611056] |
Chr9:98306013 [GRCh38] Chr9:101068295 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.*303_*304insC |
insertion |
not provided [RCV001724504] |
Chr9:98290280..98290281 [GRCh38] Chr9:101052562..101052563 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.798+44C>T |
single nucleotide variant |
not provided [RCV001649956] |
Chr9:98480888 [GRCh38] Chr9:101243170 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1893+250G>A |
single nucleotide variant |
not provided [RCV001691100] |
Chr9:98362465 [GRCh38] Chr9:101124747 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1770+228G>A |
single nucleotide variant |
not provided [RCV001691134] |
Chr9:98371236 [GRCh38] Chr9:101133518 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1529+193CA[18] |
microsatellite |
not provided [RCV001680127] |
Chr9:98388620..98388625 [GRCh38] Chr9:101150902..101150907 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.322-71T>C |
single nucleotide variant |
not provided [RCV001612210] |
Chr9:98578143 [GRCh38] Chr9:101340425 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1237-237A>G |
single nucleotide variant |
not provided [RCV001684736] |
Chr9:98406378 [GRCh38] Chr9:101168660 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1000-218G>A |
single nucleotide variant |
not provided [RCV001690443] |
Chr9:98454435 [GRCh38] Chr9:101216717 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.460-23G>A |
single nucleotide variant |
not provided [RCV001690590] |
Chr9:98542066 [GRCh38] Chr9:101304348 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.999+286A>G |
single nucleotide variant |
not provided [RCV001566189] |
Chr9:98472860 [GRCh38] Chr9:101235142 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1663-43T>C |
single nucleotide variant |
not provided [RCV001546974] |
Chr9:98371614 [GRCh38] Chr9:101133896 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1530-131G>A |
single nucleotide variant |
not provided [RCV001681548] |
Chr9:98385903 [GRCh38] Chr9:101148185 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.631-160G>A |
single nucleotide variant |
not provided [RCV001693801] |
Chr9:98496674 [GRCh38] Chr9:101258956 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.*307A>C |
single nucleotide variant |
not provided [RCV001540278] |
Chr9:98290277 [GRCh38] Chr9:101052559 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1378+58C>T |
single nucleotide variant |
not provided [RCV001567136] |
Chr9:98394117 [GRCh38] Chr9:101156399 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1895C>T (p.Pro632Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001204570] |
Chr9:98311204 [GRCh38] Chr9:101073486 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.688G>A (p.Glu230Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001236751] |
Chr9:98496457 [GRCh38] Chr9:101258739 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.166C>A (p.Leu56Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV001219897]|not provided [RCV003324822] |
Chr9:98708572 [GRCh38] Chr9:101470854 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.613G>A (p.Val205Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034009]|not specified [RCV001732016] |
Chr9:98541890 [GRCh38] Chr9:101304172 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.23G>C (p.Gly8Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV001050095] |
Chr9:98708715 [GRCh38] Chr9:101470997 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.630+4C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV001034232]|not provided [RCV001585931] |
Chr9:98541869 [GRCh38] Chr9:101304151 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.2471C>G (p.Thr824Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001043144] |
Chr9:98299295 [GRCh38] Chr9:101061577 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001214531]|not specified [RCV001844273] |
Chr9:98394189 [GRCh38] Chr9:101156471 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.253A>G (p.Ile85Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001064086] |
Chr9:98708485 [GRCh38] Chr9:101470767 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001257428]|Epileptic encephalopathy [RCV001045570]|Inborn genetic diseases [RCV002553126]|not provided [RCV003425890] |
Chr9:98708670 [GRCh38] Chr9:101470952 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.808G>A (p.Glu270Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001228387]|Inborn genetic diseases [RCV002563140] |
Chr9:98473337 [GRCh38] Chr9:101235619 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.902G>A (p.Arg301His) |
single nucleotide variant |
Epileptic encephalopathy [RCV001208195] |
Chr9:98473243 [GRCh38] Chr9:101235525 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.249G>A (p.Leu83=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001067935] |
Chr9:98708489 [GRCh38] Chr9:101470771 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1268T>C (p.Met423Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001071357] |
Chr9:98406110 [GRCh38] Chr9:101168392 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.814A>G (p.Met272Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001039820] |
Chr9:98473331 [GRCh38] Chr9:101235613 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.687C>T (p.Thr229=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001495289]|not provided [RCV001093092] |
Chr9:98496458 [GRCh38] Chr9:101258740 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV002464357]|Epileptic encephalopathy [RCV001034119]|not provided [RCV001772206] |
Chr9:98290673 [GRCh38] Chr9:101052955 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.280C>A (p.Leu94Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034124] |
Chr9:98708458 [GRCh38] Chr9:101470740 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1520G>A (p.Arg507Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001034139] |
Chr9:98388863 [GRCh38] Chr9:101151145 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup) |
microsatellite |
Epileptic encephalopathy [RCV001214678]|not provided [RCV003132277] |
Chr9:98708687..98708688 [GRCh38] Chr9:101470969..101470970 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NC_000009.12:g.(?_97428446)_(98796511_?)dup |
duplication |
Epileptic encephalopathy [RCV001033232] |
Chr9:100190728..101558793 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2817G>A (p.Ser939=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001042296] |
Chr9:98290593 [GRCh38] Chr9:101052875 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2141G>A (p.Arg714Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001211907] |
Chr9:98306209 [GRCh38] Chr9:101068491 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 |
copy number loss |
See cases [RCV001194520] |
Chr9:96126075..108535272 [GRCh37] Chr9:9q22.31-31.2 |
pathogenic |
NM_005458.8(GABBR2):c.732+220A>G |
single nucleotide variant |
not provided [RCV001663237] |
Chr9:98496193 [GRCh38] Chr9:101258475 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.635G>A (p.Arg212Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV001266987]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV003389254] |
Chr9:98496510 [GRCh38] Chr9:101258792 [GRCh37] Chr9:9q22.33 |
uncertain significance|not provided |
NM_005458.8(GABBR2):c.1220A>G (p.Asn407Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV002002168] |
Chr9:98453997 [GRCh38] Chr9:101216279 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.324C>A (p.Cys108Ter) |
single nucleotide variant |
Intellectual disability [RCV001260767] |
Chr9:98578070 [GRCh38] Chr9:101340352 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1649_1658del (p.Glu550fs) |
deletion |
Intellectual disability [RCV001260769] |
Chr9:98385644..98385653 [GRCh38] Chr9:101147926..101147935 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile) |
single nucleotide variant |
Intellectual disability [RCV001260768] |
Chr9:98306244 [GRCh38] Chr9:101068526 [GRCh37] Chr9:9q22.33 |
likely pathogenic |
NM_005458.8(GABBR2):c.113G>A (p.Gly38Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV002543560]|not provided [RCV001310667] |
Chr9:98708625 [GRCh38] Chr9:101470907 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.2095G>A (p.Val699Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001303405] |
Chr9:98306255 [GRCh38] Chr9:101068537 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1723A>G (p.Thr575Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV001267340] |
Chr9:98371511 [GRCh38] Chr9:101133793 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2765C>T (p.Thr922Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV002001995] |
Chr9:98290645 [GRCh38] Chr9:101052927 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.733-180A>G |
single nucleotide variant |
not provided [RCV001545594] |
Chr9:98481177 [GRCh38] Chr9:101243459 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001314041]|Tobacco addiction, susceptibility to [RCV002476454]|not provided [RCV002272449] |
Chr9:98708607 [GRCh38] Chr9:101470889 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2476A>C (p.Ile826Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001298433] |
Chr9:98299290 [GRCh38] Chr9:101061572 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1907G>A (p.Gly636Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001317378] |
Chr9:98311192 [GRCh38] Chr9:101073474 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.35C>T (p.Pro12Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001337769] |
Chr9:98708703 [GRCh38] Chr9:101470985 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.492C>A (p.Ala164=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001309326] |
Chr9:98542011 [GRCh38] Chr9:101304293 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.845C>T (p.Pro282Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001326276] |
Chr9:98473300 [GRCh38] Chr9:101235582 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2276G>A (p.Arg759Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001363179] |
Chr9:98303377 [GRCh38] Chr9:101065659 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.146C>T (p.Pro49Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001352425]|not provided [RCV003130497] |
Chr9:98708592 [GRCh38] Chr9:101470874 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2772C>G (p.Ser924Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV001361608] |
Chr9:98290638 [GRCh38] Chr9:101052920 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1686G>T (p.Val562=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001396928] |
Chr9:98371548 [GRCh38] Chr9:101133830 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.440A>G (p.Gln147Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV001351292] |
Chr9:98577954 [GRCh38] Chr9:101340236 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1653A>T (p.Thr551=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001433932] |
Chr9:98385649 [GRCh38] Chr9:101147931 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1238G>A (p.Gly413Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001371154] |
Chr9:98406140 [GRCh38] Chr9:101168422 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2413-3T>C |
single nucleotide variant |
Intellectual disability [RCV001328490] |
Chr9:98299356 [GRCh38] Chr9:101061638 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.831T>C (p.Tyr277=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001392771] |
Chr9:98473314 [GRCh38] Chr9:101235596 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.80T>C (p.Leu27Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV001316374] |
Chr9:98708658 [GRCh38] Chr9:101470940 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.707C>T (p.Pro236Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001343528] |
Chr9:98496438 [GRCh38] Chr9:101258720 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.321G>A (p.Glu107=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001373713] |
Chr9:98708417 [GRCh38] Chr9:101470699 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2390G>A (p.Arg797His) |
single nucleotide variant |
Epileptic encephalopathy [RCV001350913]|not provided [RCV003130493] |
Chr9:98303263 [GRCh38] Chr9:101065545 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2178G>A (p.Leu726=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001323912] |
Chr9:98306172 [GRCh38] Chr9:101068454 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1708G>A (p.Ala570Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001315614] |
Chr9:98371526 [GRCh38] Chr9:101133808 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.805G>A (p.Glu269Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001322946] |
Chr9:98473340 [GRCh38] Chr9:101235622 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1021G>C (p.Glu341Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001344833] |
Chr9:98454196 [GRCh38] Chr9:101216478 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2636T>C (p.Ile879Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001317787] |
Chr9:98293809 [GRCh38] Chr9:101056091 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1694C>T (p.Thr565Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001352139] |
Chr9:98371540 [GRCh38] Chr9:101133822 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1641G>C (p.Lys547Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001352197]|Inborn genetic diseases [RCV004988582]|not provided [RCV003130495] |
Chr9:98385661 [GRCh38] Chr9:101147943 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.1141C>T (p.Arg381Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001347045] |
Chr9:98454076 [GRCh38] Chr9:101216358 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1662+1G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001323231]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV003458669]|not provided [RCV003130269] |
Chr9:98385639 [GRCh38] Chr9:101147921 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2626A>G (p.Lys876Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001299253] |
Chr9:98293819 [GRCh38] Chr9:101056101 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.161C>T (p.Pro54Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001345268] |
Chr9:98708577 [GRCh38] Chr9:101470859 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.54GCC[3] (p.Pro20dup) |
microsatellite |
Epileptic encephalopathy [RCV001372803] |
Chr9:98708678..98708679 [GRCh38] Chr9:101470960..101470961 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2290C>G (p.Gln764Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001299405] |
Chr9:98303363 [GRCh38] Chr9:101065645 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NC_000009.11:g.(?_100190728)_(101558793_?)dup |
duplication |
Epileptic encephalopathy [RCV001308947] |
Chr9:100190728..101558793 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2467A>G (p.Thr823Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV001373000] |
Chr9:98299299 [GRCh38] Chr9:101061581 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.271G>A (p.Glu91Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001318187] |
Chr9:98708467 [GRCh38] Chr9:101470749 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.639T>C (p.Asn213=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001421256] |
Chr9:98496506 [GRCh38] Chr9:101258788 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.287C>T (p.Pro96Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001305305] |
Chr9:98708451 [GRCh38] Chr9:101470733 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1938G>T (p.Glu646Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001318219] |
Chr9:98311161 [GRCh38] Chr9:101073443 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1770+6C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV001314745] |
Chr9:98371458 [GRCh38] Chr9:101133740 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.2062G>A (p.Asp688Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001352063] |
Chr9:98306288 [GRCh38] Chr9:101068570 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.631-5G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001394748] |
Chr9:98496519 [GRCh38] Chr9:101258801 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.534A>C (p.Ser178=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001394577] |
Chr9:98541969 [GRCh38] Chr9:101304251 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.460-6T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV001413381] |
Chr9:98542049 [GRCh38] Chr9:101304331 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1893+6C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001369609] |
Chr9:98362709 [GRCh38] Chr9:101124991 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.34C>A (p.Pro12Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001302611] |
Chr9:98708704 [GRCh38] Chr9:101470986 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.89C>A (p.Pro30Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001338366] |
Chr9:98708649 [GRCh38] Chr9:101470931 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1893+9T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV001395975] |
Chr9:98362706 [GRCh38] Chr9:101124988 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1150C>A (p.Arg384=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001394633] |
Chr9:98454067 [GRCh38] Chr9:101216349 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1982A>G (p.Tyr661Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001339654] |
Chr9:98311117 [GRCh38] Chr9:101073399 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2493C>T (p.Tyr831=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001492134] |
Chr9:98299273 [GRCh38] Chr9:101061555 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1806G>C (p.Gly602=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001494491] |
Chr9:98362802 [GRCh38] Chr9:101125084 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2777G>C (p.Arg926Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV001457658] |
Chr9:98290633 [GRCh38] Chr9:101052915 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1287T>C (p.Thr429=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001461017] |
Chr9:98406091 [GRCh38] Chr9:101168373 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1384G>A (p.Glu462Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001435386] |
Chr9:98388999 [GRCh38] Chr9:101151281 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.477C>A (p.Thr159=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001453868] |
Chr9:98542026 [GRCh38] Chr9:101304308 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.885G>A (p.Thr295=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001476069] |
Chr9:98473260 [GRCh38] Chr9:101235542 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2466G>A (p.Lys822=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001454208]|GABBR2-related disorder [RCV003946188]|not provided [RCV001577647] |
Chr9:98299300 [GRCh38] Chr9:101061582 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2555C>T (p.Ala852Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001476263] |
Chr9:98293890 [GRCh38] Chr9:101056172 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.90G>T (p.Pro30=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001506311] |
Chr9:98708648 [GRCh38] Chr9:101470930 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.78A>G (p.Leu26=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001400237] |
Chr9:98708660 [GRCh38] Chr9:101470942 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.699C>T (p.Ser233=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001402794] |
Chr9:98496446 [GRCh38] Chr9:101258728 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.969C>T (p.Ser323=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001488658] |
Chr9:98473176 [GRCh38] Chr9:101235458 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2079G>A (p.Gly693=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001465468] |
Chr9:98306271 [GRCh38] Chr9:101068553 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.702C>T (p.Asn234=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001487561]|not provided [RCV003426150] |
Chr9:98496443 [GRCh38] Chr9:101258725 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1827G>A (p.Leu609=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001423547] |
Chr9:98362781 [GRCh38] Chr9:101125063 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1563C>T (p.Asn521=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001423551] |
Chr9:98385739 [GRCh38] Chr9:101148021 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2660+8C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001506051] |
Chr9:98293777 [GRCh38] Chr9:101056059 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1095C>T (p.Ile365=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001468624] |
Chr9:98454122 [GRCh38] Chr9:101216404 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1680C>T (p.Leu560=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001474598] |
Chr9:98371554 [GRCh38] Chr9:101133836 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1117A>G (p.Met373Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001478226] |
Chr9:98454100 [GRCh38] Chr9:101216382 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.60C>T (p.Pro20=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001426821] |
Chr9:98708678 [GRCh38] Chr9:101470960 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1803G>C (p.Val601=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001489803] |
Chr9:98362805 [GRCh38] Chr9:101125087 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2169C>T (p.Ile723=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001429669] |
Chr9:98306181 [GRCh38] Chr9:101068463 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2226G>T (p.Pro742=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001469248] |
Chr9:98306124 [GRCh38] Chr9:101068406 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2817G>C (p.Ser939=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001467869] |
Chr9:98290593 [GRCh38] Chr9:101052875 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2058C>T (p.Leu686=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001488636] |
Chr9:98306292 [GRCh38] Chr9:101068574 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2721C>T (p.Ile907=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001443242] |
Chr9:98290689 [GRCh38] Chr9:101052971 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.372G>A (p.Gly124=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001448557] |
Chr9:98578022 [GRCh38] Chr9:101340304 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.630+9G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001432593] |
Chr9:98541864 [GRCh38] Chr9:101304146 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+9G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001446264]|GABBR2-related disorder [RCV003908664] |
Chr9:98306112 [GRCh38] Chr9:101068394 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2412+7dup |
duplication |
Epileptic encephalopathy [RCV001441378] |
Chr9:98303231..98303232 [GRCh38] Chr9:101065513..101065514 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1545G>A (p.Ser515=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001407226] |
Chr9:98385757 [GRCh38] Chr9:101148039 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.534A>G (p.Ser178=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001423471] |
Chr9:98541969 [GRCh38] Chr9:101304251 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2061C>T (p.Asn687=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001441236] |
Chr9:98306289 [GRCh38] Chr9:101068571 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.957C>T (p.Phe319=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001444039] |
Chr9:98473188 [GRCh38] Chr9:101235470 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.600G>A (p.Thr200=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001409799] |
Chr9:98541903 [GRCh38] Chr9:101304185 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2766C>T (p.Thr922=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001401047] |
Chr9:98290644 [GRCh38] Chr9:101052926 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2154T>C (p.Asn718=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001449345] |
Chr9:98306196 [GRCh38] Chr9:101068478 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1378+39A>C |
single nucleotide variant |
not provided [RCV001541763] |
Chr9:98394136 [GRCh38] Chr9:101156418 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2823G>A (p.Leu941=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001418997] |
Chr9:98290587 [GRCh38] Chr9:101052869 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1771-8C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV001405949] |
Chr9:98362845 [GRCh38] Chr9:101125127 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.369C>T (p.Tyr123=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001445271]|not provided [RCV003433175] |
Chr9:98578025 [GRCh38] Chr9:101340307 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001494095]|Inborn genetic diseases [RCV003246970]|not provided [RCV003132504] |
Chr9:98454040 [GRCh38] Chr9:101216322 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.999+9C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001445196] |
Chr9:98473137 [GRCh38] Chr9:101235419 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2664C>T (p.Ile888=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001434987] |
Chr9:98290746 [GRCh38] Chr9:101053028 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1851T>C (p.Ala617=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001404274] |
Chr9:98362757 [GRCh38] Chr9:101125039 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1071C>T (p.Tyr357=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001401895]|GABBR2-related disorder [RCV003946056]|not provided [RCV001561877] |
Chr9:98454146 [GRCh38] Chr9:101216428 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1803G>T (p.Val601=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001401909] |
Chr9:98362805 [GRCh38] Chr9:101125087 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.781G>A (p.Ala261Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001411538] |
Chr9:98480949 [GRCh38] Chr9:101243231 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1500C>T (p.Leu500=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001445943] |
Chr9:98388883 [GRCh38] Chr9:101151165 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.*8A>G |
single nucleotide variant |
not provided [RCV001688235] |
Chr9:98290576 [GRCh38] Chr9:101052858 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2230-23C>T |
single nucleotide variant |
not provided [RCV001650343] |
Chr9:98303446 [GRCh38] Chr9:101065728 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1644C>T (p.Thr548=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001461395] |
Chr9:98385658 [GRCh38] Chr9:101147940 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+301dup |
duplication |
not provided [RCV001614986] |
Chr9:98305808..98305809 [GRCh38] Chr9:101068090..101068091 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1297+178del |
deletion |
not provided [RCV001684158] |
Chr9:98405903 [GRCh38] Chr9:101168185 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1771-4G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001486159] |
Chr9:98362841 [GRCh38] Chr9:101125123 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.591C>T (p.Arg197=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001457590] |
Chr9:98541912 [GRCh38] Chr9:101304194 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.764T>C (p.Phe255Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001454932] |
Chr9:98480966 [GRCh38] Chr9:101243248 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.*299_*300insC |
insertion |
not provided [RCV001674752] |
Chr9:98290284..98290285 [GRCh38] Chr9:101052566..101052567 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.103C>T (p.Leu35=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001462513] |
Chr9:98708635 [GRCh38] Chr9:101470917 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+94G>A |
single nucleotide variant |
not provided [RCV001582224] |
Chr9:98388760 [GRCh38] Chr9:101151042 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+8A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV001462480] |
Chr9:98388846 [GRCh38] Chr9:101151128 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1746C>A (p.Phe582Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001479808] |
Chr9:98371488 [GRCh38] Chr9:101133770 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+46C>T |
single nucleotide variant |
not provided [RCV001680277] |
Chr9:98388808 [GRCh38] Chr9:101151090 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2230-197G>A |
single nucleotide variant |
not provided [RCV001615692] |
Chr9:98303620 [GRCh38] Chr9:101065902 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2239C>T (p.Leu747=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001480020] |
Chr9:98303414 [GRCh38] Chr9:101065696 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.322-14G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002070478]|not provided [RCV001613482] |
Chr9:98578086 [GRCh38] Chr9:101340368 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1529+193CA[16] |
microsatellite |
not provided [RCV001650149] |
Chr9:98388620..98388629 [GRCh38] Chr9:101150902..101150911 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.716G>A (p.Ser239Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001517552] |
Chr9:98496429 [GRCh38] Chr9:101258711 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.631-9T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV001487632] |
Chr9:98496523 [GRCh38] Chr9:101258805 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1379-96G>A |
single nucleotide variant |
not provided [RCV001694526] |
Chr9:98389100 [GRCh38] Chr9:101151382 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1663-334G>A |
single nucleotide variant |
not provided [RCV001674088] |
Chr9:98371905 [GRCh38] Chr9:101134187 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.375T>G (p.Pro125=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001702604]|Epileptic encephalopathy [RCV001517759]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001702108]|not provided [RCV001595088] |
Chr9:98578019 [GRCh38] Chr9:101340301 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2385C>T (p.Asn795=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001504318] |
Chr9:98303268 [GRCh38] Chr9:101065550 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.34C>T (p.Pro12Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001488075] |
Chr9:98708704 [GRCh38] Chr9:101470986 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.630+9G>C |
single nucleotide variant |
Epileptic encephalopathy [RCV001477410] |
Chr9:98541864 [GRCh38] Chr9:101304146 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1029C>T (p.Asn343=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001480667] |
Chr9:98454188 [GRCh38] Chr9:101216470 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1662+134_1662+135insC |
insertion |
not provided [RCV001680710] |
Chr9:98385505..98385506 [GRCh38] Chr9:101147787..101147788 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2605A>G (p.Thr869Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV001517755]|not provided [RCV001655763] |
Chr9:98293840 [GRCh38] Chr9:101056122 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2005-340A>C |
single nucleotide variant |
not provided [RCV001665853] |
Chr9:98306685 [GRCh38] Chr9:101068967 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.237C>T (p.Pro79=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001504784] |
Chr9:98708501 [GRCh38] Chr9:101470783 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.459+147A>T |
single nucleotide variant |
not provided [RCV001655074] |
Chr9:98577788 [GRCh38] Chr9:101340070 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.322-86T>C |
single nucleotide variant |
not provided [RCV001679001] |
Chr9:98578158 [GRCh38] Chr9:101340440 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1771-29G>A |
single nucleotide variant |
not provided [RCV001688167] |
Chr9:98362866 [GRCh38] Chr9:101125148 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1737C>T (p.His579=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001489923]|GABBR2-related disorder [RCV003948432] |
Chr9:98371497 [GRCh38] Chr9:101133779 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.846G>A (p.Pro282=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001516192] |
Chr9:98473299 [GRCh38] Chr9:101235581 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.804C>T (p.Tyr268=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001490369] |
Chr9:98473341 [GRCh38] Chr9:101235623 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2542+6del |
deletion |
Epileptic encephalopathy [RCV001518598]|not provided [RCV003883686] |
Chr9:98299218 [GRCh38] Chr9:101061500 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.1893+8_1893+31del |
deletion |
Epileptic encephalopathy [RCV001485843] |
Chr9:98362684..98362707 [GRCh38] Chr9:101124966..101124989 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1911G>A (p.Arg637=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001487155] |
Chr9:98311188 [GRCh38] Chr9:101073470 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.375T>A (p.Pro125=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001450770] |
Chr9:98578019 [GRCh38] Chr9:101340301 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.612C>T (p.Asp204=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001461044] |
Chr9:98541891 [GRCh38] Chr9:101304173 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.882C>T (p.His294=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001512365]|not provided [RCV001597281] |
Chr9:98473263 [GRCh38] Chr9:101235545 [GRCh37] Chr9:9q22.33 |
benign|likely benign |
NM_005458.8(GABBR2):c.999+8C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001458900] |
Chr9:98473138 [GRCh38] Chr9:101235420 [GRCh37] Chr9:9q22.33 |
likely benign |
NC_000009.11:g.(?_101124992_101125835del |
deletion |
Epileptic encephalopathy [RCV001476313] |
|
likely benign |
NM_005458.8(GABBR2):c.1449C>T (p.Ser483=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001465128] |
Chr9:98388934 [GRCh38] Chr9:101151216 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.501A>G (p.Lys167=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001397839] |
Chr9:98542002 [GRCh38] Chr9:101304284 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2226G>A (p.Pro742=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001523713]|not provided [RCV003434308] |
Chr9:98306124 [GRCh38] Chr9:101068406 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2542+7G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001401916]|not provided [RCV004720901] |
Chr9:98299217 [GRCh38] Chr9:101061499 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.993A>G (p.Ser331=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001485109] |
Chr9:98473152 [GRCh38] Chr9:101235434 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2670T>C (p.Arg890=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001427863]|not provided [RCV004546653] |
Chr9:98290740 [GRCh38] Chr9:101053022 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1172C>T (p.Thr391Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001517644] |
Chr9:98454045 [GRCh38] Chr9:101216327 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1800C>T (p.Ile600=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001500947] |
Chr9:98362808 [GRCh38] Chr9:101125090 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2413-4G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001702106]|Epileptic encephalopathy [RCV001517756]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001702107]|not provided [RCV001655764] |
Chr9:98299357 [GRCh38] Chr9:101061639 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2052C>T (p.Pro684=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001702602]|Epileptic encephalopathy [RCV001517757]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV001702603]|not provided [RCV001615200] |
Chr9:98306298 [GRCh38] Chr9:101068580 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.631-7C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV001517758]|not provided [RCV001638111] |
Chr9:98496521 [GRCh38] Chr9:101258803 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2232C>G (p.Leu744=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001404917] |
Chr9:98303421 [GRCh38] Chr9:101065703 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1836G>A (p.Leu612=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001463640] |
Chr9:98362772 [GRCh38] Chr9:101125054 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.255C>T (p.Ile85=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001400870] |
Chr9:98708483 [GRCh38] Chr9:101470765 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1700C>T (p.Ala567Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001386468] |
Chr9:98371534 [GRCh38] Chr9:101133816 [GRCh37] Chr9:9q22.33 |
pathogenic |
NM_005458.8(GABBR2):c.1530-8C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV001398602] |
Chr9:98385780 [GRCh38] Chr9:101148062 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2679C>T (p.Ser893=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001497313] |
Chr9:98290731 [GRCh38] Chr9:101053013 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1167C>T (p.Asn389=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001459869] |
Chr9:98454050 [GRCh38] Chr9:101216332 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2319G>A (p.Thr773=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001477341] |
Chr9:98303334 [GRCh38] Chr9:101065616 [GRCh37] Chr9:9q22.33 |
likely benign |
NC_000009.11:g.12246100_101559378inv |
inversion |
Recurrent spontaneous abortion [RCV000999471] |
Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33 |
likely pathogenic |
NM_005458.8(GABBR2):c.2587_2594dup (p.Gln865fs) |
duplication |
not provided [RCV004798620] |
Chr9:98293850..98293851 [GRCh38] Chr9:101056132..101056133 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2660+2T>G |
single nucleotide variant |
Autism spectrum disorder [RCV003127324] |
Chr9:98293783 [GRCh38] Chr9:101056065 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2413-21A>G |
single nucleotide variant |
not provided [RCV001756370] |
Chr9:98299374 [GRCh38] Chr9:101061656 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2669G>A (p.Arg890His) |
single nucleotide variant |
Epileptic encephalopathy [RCV002538819]|not provided [RCV001763093] |
Chr9:98290741 [GRCh38] Chr9:101053023 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2567A>G (p.Asn856Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV003771962]|not provided [RCV001772521] |
Chr9:98293878 [GRCh38] Chr9:101056160 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.194C>A (p.Thr65Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV003754914]|not provided [RCV001754401] |
Chr9:98708544 [GRCh38] Chr9:101470826 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1474G>A (p.Gly492Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV001882801]|not provided [RCV001733263] |
Chr9:98388909 [GRCh38] Chr9:101151191 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.166C>G (p.Leu56Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV001785213] |
Chr9:98708572 [GRCh38] Chr9:101470854 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.215G>A (p.Ser72Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004988723]|not provided [RCV001768919] |
Chr9:98708523 [GRCh38] Chr9:101470805 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.288del (p.Tyr97fs) |
deletion |
not provided [RCV001771111] |
Chr9:98708450 [GRCh38] Chr9:101470732 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1663-45T>C |
single nucleotide variant |
not provided [RCV001794828] |
Chr9:98371616 [GRCh38] Chr9:101133898 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2576A>G (p.Asp859Gly) |
single nucleotide variant |
not provided [RCV001758403] |
Chr9:98293869 [GRCh38] Chr9:101056151 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.*302_*303insC |
insertion |
not provided [RCV001753935] |
Chr9:98290281..98290282 [GRCh38] Chr9:101052563..101052564 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1639_1640del (p.Lys547fs) |
deletion |
not provided [RCV004798556] |
Chr9:98385662..98385663 [GRCh38] Chr9:101147944..101147945 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1865G>A (p.Arg622Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001891086]|not provided [RCV004584934] |
Chr9:98362743 [GRCh38] Chr9:101125025 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2487C>A (p.Asn829Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV001873882] |
Chr9:98299279 [GRCh38] Chr9:101061561 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.164C>G (p.Pro55Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV001929939] |
Chr9:98708574 [GRCh38] Chr9:101470856 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.428C>T (p.Ala143Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001875058] |
Chr9:98577966 [GRCh38] Chr9:101340248 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.175A>T (p.Met59Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV002008262] |
Chr9:98708563 [GRCh38] Chr9:101470845 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2755_2778dup (p.Val919_Arg926dup) |
duplication |
Epileptic encephalopathy [RCV001964564] |
Chr9:98290631..98290632 [GRCh38] Chr9:101052913..101052914 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.911G>A (p.Arg304Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001863578]|Inborn genetic diseases [RCV002545772] |
Chr9:98473234 [GRCh38] Chr9:101235516 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1145A>G (p.His382Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV002045382] |
Chr9:98454072 [GRCh38] Chr9:101216354 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2360G>A (p.Arg787His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV003444944]|Epileptic encephalopathy [RCV001874631] |
Chr9:98303293 [GRCh38] Chr9:101065575 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.355G>A (p.Asp119Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001869810]|not provided [RCV001823368] |
Chr9:98578039 [GRCh38] Chr9:101340321 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.630+6C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002022144] |
Chr9:98541867 [GRCh38] Chr9:101304149 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.329A>G (p.Asn110Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001945489] |
Chr9:98578065 [GRCh38] Chr9:101340347 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.2510T>A (p.Ile837Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001892637] |
Chr9:98299256 [GRCh38] Chr9:101061538 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1992G>A (p.Lys664=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001985536] |
Chr9:98311107 [GRCh38] Chr9:101073389 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.205G>C (p.Ala69Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV002004544]|not provided [RCV003130633] |
Chr9:98708533 [GRCh38] Chr9:101470815 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.784A>G (p.Lys262Glu) |
single nucleotide variant |
not provided [RCV001847478] |
Chr9:98480946 [GRCh38] Chr9:101243228 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2367G>C (p.Glu789Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001969271] |
Chr9:98303286 [GRCh38] Chr9:101065568 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1252C>T (p.Arg418Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV001968023] |
Chr9:98406126 [GRCh38] Chr9:101168408 [GRCh37] Chr9:9q22.33 |
uncertain significance |
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) |
copy number gain |
not specified [RCV002053853] |
Chr9:71349994..122603410 [GRCh37] Chr9:9q21.11-33.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) |
copy number gain |
not specified [RCV002053823] |
Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_005458.8(GABBR2):c.1972G>A (p.Gly658Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001983108] |
Chr9:98311127 [GRCh38] Chr9:101073409 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1825C>G (p.Leu609Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001891277] |
Chr9:98362783 [GRCh38] Chr9:101125065 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.859C>A (p.Pro287Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV001996927]|GABBR2-related disorder [RCV003401953] |
Chr9:98473286 [GRCh38] Chr9:101235568 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.630+1G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001932489] |
Chr9:98541872 [GRCh38] Chr9:101304154 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2002A>G (p.Met668Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001960846] |
Chr9:98311097 [GRCh38] Chr9:101073379 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1885A>G (p.Ser629Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV002030965] |
Chr9:98362723 [GRCh38] Chr9:101125005 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NC_000009.11:g.(?_100190748)_(103062956_?)del |
deletion |
Nephronophthisis [RCV001959180] |
Chr9:100190748..103062956 [GRCh37] Chr9:9q22.33-31.1 |
pathogenic |
NM_005458.8(GABBR2):c.1910G>A (p.Arg637Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001917997]|Inborn genetic diseases [RCV002555616] |
Chr9:98311189 [GRCh38] Chr9:101073471 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1822G>A (p.Asp608Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV001887362] |
Chr9:98362786 [GRCh38] Chr9:101125068 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.128C>T (p.Ala43Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV001906195] |
Chr9:98708610 [GRCh38] Chr9:101470892 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2497G>C (p.Glu833Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001954924] |
Chr9:98299269 [GRCh38] Chr9:101061551 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1112G>A (p.Arg371Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV002016780] |
Chr9:98454105 [GRCh38] Chr9:101216387 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2093A>G (p.Asn698Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV002020112] |
Chr9:98306257 [GRCh38] Chr9:101068539 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.255C>G (p.Ile85Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV001962170] |
Chr9:98708483 [GRCh38] Chr9:101470765 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2803C>T (p.Arg935Ter) |
single nucleotide variant |
Epileptic encephalopathy [RCV002000677] |
Chr9:98290607 [GRCh38] Chr9:101052889 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2621C>A (p.Thr874Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV002046449] |
Chr9:98293824 [GRCh38] Chr9:101056106 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2137A>G (p.Thr713Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV001885870] |
Chr9:98306213 [GRCh38] Chr9:101068495 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1042G>A (p.Gly348Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV001918910] |
Chr9:98454175 [GRCh38] Chr9:101216457 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1386A>T (p.Glu462Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV002000713] |
Chr9:98388997 [GRCh38] Chr9:101151279 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1424G>A (p.Arg475Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001992837] |
Chr9:98388959 [GRCh38] Chr9:101151241 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1660A>G (p.Thr554Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV001881769] |
Chr9:98385642 [GRCh38] Chr9:101147924 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV001865084]|not provided [RCV003329418] |
Chr9:98473285 [GRCh38] Chr9:101235567 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1151G>A (p.Arg384Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV002030507] |
Chr9:98454066 [GRCh38] Chr9:101216348 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.979A>T (p.Ile327Phe) |
single nucleotide variant |
Epileptic encephalopathy [RCV001930952] |
Chr9:98473166 [GRCh38] Chr9:101235448 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.11C>A (p.Pro4Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV002048237] |
Chr9:98708727 [GRCh38] Chr9:101471009 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1643C>T (p.Thr548Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV001961228] |
Chr9:98385659 [GRCh38] Chr9:101147941 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1072G>A (p.Ala358Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002034128] |
Chr9:98454145 [GRCh38] Chr9:101216427 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.48_59del (p.Pro17_Pro20del) |
deletion |
Epileptic encephalopathy [RCV002034346] |
Chr9:98708679..98708690 [GRCh38] Chr9:101470961..101470972 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.123C>G (p.Gly41=) |
single nucleotide variant |
Epileptic encephalopathy [RCV001954534] |
Chr9:98708615 [GRCh38] Chr9:101470897 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1091T>G (p.Val364Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV001880989] |
Chr9:98454126 [GRCh38] Chr9:101216408 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2468C>T (p.Thr823Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV001957810] |
Chr9:98299298 [GRCh38] Chr9:101061580 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV002015436]|Tobacco addiction, susceptibility to [RCV002497995] |
Chr9:98708617 [GRCh38] Chr9:101470899 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1142G>A (p.Arg381Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV001919964]|not provided [RCV004809694] |
Chr9:98454075 [GRCh38] Chr9:101216357 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.729G>A (p.Leu243=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002167704] |
Chr9:98496416 [GRCh38] Chr9:101258698 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+15C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002091853] |
Chr9:98306106 [GRCh38] Chr9:101068388 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1746C>T (p.Phe582=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002185432] |
Chr9:98371488 [GRCh38] Chr9:101133770 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1770+7A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002167868]|not provided [RCV003883750] |
Chr9:98371457 [GRCh38] Chr9:101133739 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.459+11A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002206081] |
Chr9:98577924 [GRCh38] Chr9:101340206 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2529C>T (p.Phe843=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002209160] |
Chr9:98299237 [GRCh38] Chr9:101061519 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.33GCC[9] (p.Pro18_Pro20dup) |
microsatellite |
Epileptic encephalopathy [RCV002090819] |
Chr9:98708687..98708688 [GRCh38] Chr9:101470969..101470970 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2343C>T (p.Asn781=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002167842]|not provided [RCV003326606] |
Chr9:98303310 [GRCh38] Chr9:101065592 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1717G>A (p.Ala573Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002088098] |
Chr9:98371517 [GRCh38] Chr9:101133799 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.87G>C (p.Leu29=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002164955] |
Chr9:98708651 [GRCh38] Chr9:101470933 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2575G>C (p.Asp859His) |
single nucleotide variant |
Epileptic encephalopathy [RCV002130361] |
Chr9:98293870 [GRCh38] Chr9:101056152 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.322-15T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002112426] |
Chr9:98578087 [GRCh38] Chr9:101340369 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1772T>A (p.Ile591Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV002085681] |
Chr9:98362836 [GRCh38] Chr9:101125118 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2661-18C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002089347] |
Chr9:98290767 [GRCh38] Chr9:101053049 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.798+19T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002148071] |
Chr9:98480913 [GRCh38] Chr9:101243195 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.141C>G (p.Pro47=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002088529] |
Chr9:98708597 [GRCh38] Chr9:101470879 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1930C>G (p.Leu644Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV002205748] |
Chr9:98311169 [GRCh38] Chr9:101073451 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.33GCC[5] (p.Pro20del) |
microsatellite |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV003339940]|not specified [RCV002247849] |
Chr9:98708688..98708690 [GRCh38] Chr9:101470970..101470972 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.460-10T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002146457] |
Chr9:98542053 [GRCh38] Chr9:101304335 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.21C>A (p.Ser7=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002186553] |
Chr9:98708717 [GRCh38] Chr9:101470999 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.53C>A (p.Pro18Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV002075514] |
Chr9:98708685 [GRCh38] Chr9:101470967 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.460-8T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002108423] |
Chr9:98542051 [GRCh38] Chr9:101304333 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1182G>A (p.Thr394=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002216154] |
Chr9:98454035 [GRCh38] Chr9:101216317 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2325C>T (p.Thr775=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002214840] |
Chr9:98303328 [GRCh38] Chr9:101065610 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2667G>A (p.Gln889=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002079647] |
Chr9:98290743 [GRCh38] Chr9:101053025 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2412+13G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002174217] |
Chr9:98303228 [GRCh38] Chr9:101065510 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1695G>A (p.Thr565=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002134540] |
Chr9:98371539 [GRCh38] Chr9:101133821 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1237-18G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002134565] |
Chr9:98406159 [GRCh38] Chr9:101168441 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.526G>A (p.Val176Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV002174434] |
Chr9:98541977 [GRCh38] Chr9:101304259 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.921G>A (p.Leu307=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002197186]|not provided [RCV004809747] |
Chr9:98473224 [GRCh38] Chr9:101235506 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+19C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002188597] |
Chr9:98388835 [GRCh38] Chr9:101151117 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1770+12C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002095107] |
Chr9:98371452 [GRCh38] Chr9:101133734 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2543-19A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002077833] |
Chr9:98293921 [GRCh38] Chr9:101056203 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.280C>T (p.Leu94=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002125379] |
Chr9:98708458 [GRCh38] Chr9:101470740 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1173G>A (p.Thr391=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002171598] |
Chr9:98454044 [GRCh38] Chr9:101216326 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1608C>T (p.Leu536=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002195872] |
Chr9:98385694 [GRCh38] Chr9:101147976 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.948C>T (p.Gly316=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002117116] |
Chr9:98473197 [GRCh38] Chr9:101235479 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2220C>T (p.Phe740=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002117134] |
Chr9:98306130 [GRCh38] Chr9:101068412 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1864C>A (p.Arg622=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002094168] |
Chr9:98362744 [GRCh38] Chr9:101125026 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1297+14T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002108694] |
Chr9:98406067 [GRCh38] Chr9:101168349 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2574C>T (p.Leu858=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002128579] |
Chr9:98293871 [GRCh38] Chr9:101056153 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1362C>T (p.Asp454=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002173569] |
Chr9:98394191 [GRCh38] Chr9:101156473 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1902A>G (p.Pro634=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002152277] |
Chr9:98311197 [GRCh38] Chr9:101073479 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.321+11G>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002213079] |
Chr9:98708406 [GRCh38] Chr9:101470688 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2703C>T (p.His901=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002095277] |
Chr9:98290707 [GRCh38] Chr9:101052989 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1308G>A (p.Glu436=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002126090] |
Chr9:98394245 [GRCh38] Chr9:101156527 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.672T>A (p.Ile224=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002213228] |
Chr9:98496473 [GRCh38] Chr9:101258755 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1893+17G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002131192] |
Chr9:98362698 [GRCh38] Chr9:101124980 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1575T>C (p.Leu525=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002188558] |
Chr9:98385727 [GRCh38] Chr9:101148009 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1663-21_1663-20del |
microsatellite |
Epileptic encephalopathy [RCV002195576] |
Chr9:98371591..98371592 [GRCh38] Chr9:101133873..101133874 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+20_1529+22del |
microsatellite |
Epileptic encephalopathy [RCV002191825] |
Chr9:98388832..98388834 [GRCh38] Chr9:101151114..101151116 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.705T>C (p.Asp235=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002193138] |
Chr9:98496440 [GRCh38] Chr9:101258722 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2230-15C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002096193] |
Chr9:98303438 [GRCh38] Chr9:101065720 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1698C>T (p.Thr566=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002194572] |
Chr9:98371536 [GRCh38] Chr9:101133818 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1893+12A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002192000] |
Chr9:98362703 [GRCh38] Chr9:101124985 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1237-22_1237-18del |
deletion |
Epileptic encephalopathy [RCV002114155] |
Chr9:98406159..98406163 [GRCh38] Chr9:101168441..101168445 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2472C>A (p.Thr824=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002153177] |
Chr9:98299294 [GRCh38] Chr9:101061576 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1770+15_1770+17del |
deletion |
Epileptic encephalopathy [RCV002197009] |
Chr9:98371447..98371449 [GRCh38] Chr9:101133729..101133731 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.67C>T (p.Leu23=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002213601] |
Chr9:98708671 [GRCh38] Chr9:101470953 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1227C>T (p.Phe409=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002113317] |
Chr9:98453990 [GRCh38] Chr9:101216272 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1328A>G (p.Asn443Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV002078679] |
Chr9:98394225 [GRCh38] Chr9:101156507 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2034C>G (p.Thr678=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002078720] |
Chr9:98306316 [GRCh38] Chr9:101068598 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.322-10T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002199387] |
Chr9:98578082 [GRCh38] Chr9:101340364 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1336G>A (p.Ala446Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002201264] |
Chr9:98394217 [GRCh38] Chr9:101156499 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1893+7_1893+35delinsAACAATCAGAAGCTATATAAAGTTGTATACATGTCTTCCCTCCTCAGTAAACTGGGGAGGCCTAGACAGAAAGAAAGCCCATTTTATTTGTGTTCCCTCAGCACCTACCGGGGCCTGGTATGCAGTAGCTACTTAAAAGTCTGATGAATTGAATTGACATGAAAGAATATAAAAAGAAGAAATATAACTCCCATTCCTCTTTGCAGCCTGGGATATTTTTATTACTCTGTGAGACTCCTACCCCACTTTACGTCTGTTTGATAGGGATCGGCTGGGGGATAAATATTTTCGGTGCCAAAGCTGACCTGTATTTCATTCACTTCATGTTTATATATCCCCTCACTCTCCAGAAAAGCTAATGTGATGGAGTAGTTCTGGAAGAGACTCATGGAAAAACAAACAAAACTCAGGCAGAAGCTTAAGAAATATCACCAGGTTTGGTTTTTAACGATTAAAGCCATTTTTAAAG |
indel |
Epileptic encephalopathy [RCV002199447] |
Chr9:98362680..98362708 [GRCh38] Chr9:101124962..101124990 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.339G>C (p.Gly113=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002216636] |
Chr9:98578055 [GRCh38] Chr9:101340337 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2230-18dup |
duplication |
Epileptic encephalopathy [RCV002198089] |
Chr9:98303440..98303441 [GRCh38] Chr9:101065722..101065723 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2542+16C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002098253] |
Chr9:98299208 [GRCh38] Chr9:101061490 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.460-17del |
deletion |
Epileptic encephalopathy [RCV002135841] |
Chr9:98542060 [GRCh38] Chr9:101304342 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.165G>T (p.Pro55=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002175769] |
Chr9:98708573 [GRCh38] Chr9:101470855 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.459+18T>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002098352] |
Chr9:98577917 [GRCh38] Chr9:101340199 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1005A>G (p.Pro335=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002098652] |
Chr9:98454212 [GRCh38] Chr9:101216494 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1378+16T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002136236] |
Chr9:98394159 [GRCh38] Chr9:101156441 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.1662+20C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002140354] |
Chr9:98385620 [GRCh38] Chr9:101147902 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1893+11_1893+34del |
deletion |
Epileptic encephalopathy [RCV002142651] |
Chr9:98362681..98362704 [GRCh38] Chr9:101124963..101124986 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1893+14G>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002154890] |
Chr9:98362701 [GRCh38] Chr9:101124983 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.733-4A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002219580] |
Chr9:98481001 [GRCh38] Chr9:101243283 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.948C>A (p.Gly316=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002198896] |
Chr9:98473197 [GRCh38] Chr9:101235479 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1544C>T (p.Ser515Leu) |
single nucleotide variant |
not specified [RCV002223051] |
Chr9:98385758 [GRCh38] Chr9:101148040 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1194C>T (p.Ile398=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002153927] |
Chr9:98454023 [GRCh38] Chr9:101216305 [GRCh37] Chr9:9q22.33 |
likely benign |
NC_000009.11:g.(?_101470679)_(101611374_?)dup |
duplication |
Epileptic encephalopathy [RCV002081326]|not provided [RCV003120814] |
Chr9:101470679..101611374 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance|no classifications from unflagged records |
NM_005458.8(GABBR2):c.606G>C (p.Thr202=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002154458] |
Chr9:98541897 [GRCh38] Chr9:101304179 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1989C>T (p.Tyr663=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002203788] |
Chr9:98311110 [GRCh38] Chr9:101073392 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.732+14G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002155494] |
Chr9:98496399 [GRCh38] Chr9:101258681 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2706C>T (p.Ala902=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002154184] |
Chr9:98290704 [GRCh38] Chr9:101052986 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1529+7C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002201848] |
Chr9:98388847 [GRCh38] Chr9:101151129 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.759C>A (p.Gly253=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002083361] |
Chr9:98480971 [GRCh38] Chr9:101243253 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.855C>T (p.Tyr285=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002120063] |
Chr9:98473290 [GRCh38] Chr9:101235572 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.321+16C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002123462] |
Chr9:98708401 [GRCh38] Chr9:101470683 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1378+17_1378+18delinsAA |
indel |
Epileptic encephalopathy [RCV002123754] |
Chr9:98394157..98394158 [GRCh38] Chr9:101156439..101156440 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.460-12del |
deletion |
Epileptic encephalopathy [RCV002144233] |
Chr9:98542055 [GRCh38] Chr9:101304337 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.12G>C (p.Pro4=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002136548] |
Chr9:98708726 [GRCh38] Chr9:101471008 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2053G>A (p.Ala685Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002184431] |
Chr9:98306297 [GRCh38] Chr9:101068579 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1206C>T (p.Ala402=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002160637] |
Chr9:98454011 [GRCh38] Chr9:101216293 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1237-14del |
deletion |
Epileptic encephalopathy [RCV002217978] |
Chr9:98406155 [GRCh38] Chr9:101168437 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.840C>A (p.Ile280=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002180117] |
Chr9:98473305 [GRCh38] Chr9:101235587 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2055A>C (p.Ala685=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002163232] |
Chr9:98306295 [GRCh38] Chr9:101068577 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2190C>T (p.Phe730=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002142422] |
Chr9:98306160 [GRCh38] Chr9:101068442 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2040C>T (p.Asn680=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002142431] |
Chr9:98306310 [GRCh38] Chr9:101068592 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+18A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002157677] |
Chr9:98306103 [GRCh38] Chr9:101068385 [GRCh37] Chr9:9q22.33 |
likely benign |
NC_000009.11:g.(?_100190748)_(103062956_?)dup |
duplication |
ALG2-congenital disorder of glycosylation [RCV003113550]|Familial thoracic aortic aneurysm and aortic dissection [RCV003113551] |
Chr9:100190748..103062956 [GRCh37] Chr9:9q22.33-31.1 |
uncertain significance |
NM_005458.8(GABBR2):c.1978G>A (p.Val660Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV003117107] |
Chr9:98311121 [GRCh38] Chr9:101073403 [GRCh37] Chr9:9q22.33 |
likely benign |
NC_000009.11:g.(?_101052866)_(101073507_?)dup |
duplication |
Epileptic encephalopathy [RCV003116370] |
Chr9:101052866..101073507 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.744G>A (p.Val248=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003121589] |
Chr9:98480986 [GRCh38] Chr9:101243268 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2755G>C (p.Val919Leu) |
single nucleotide variant |
not provided [RCV003123151] |
Chr9:98290655 [GRCh38] Chr9:101052937 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2804G>A (p.Arg935Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755008]|not provided [RCV003130959] |
Chr9:98290606 [GRCh38] Chr9:101052888 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.542C>A (p.Ala181Glu) |
single nucleotide variant |
not provided [RCV003130962] |
Chr9:98541961 [GRCh38] Chr9:101304243 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn) |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV002254373]|not provided [RCV004721029] |
Chr9:98306266 [GRCh38] Chr9:101068548 [GRCh37] Chr9:9q22.33 |
pathogenic|likely pathogenic |
NM_005458.8(GABBR2):c.*1906T>C |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV002227660] |
Chr9:98288678 [GRCh38] Chr9:101050960 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1724C>A (p.Thr575Asn) |
single nucleotide variant |
GABBR2-related disorder [RCV004731508]|not provided [RCV003130961] |
Chr9:98371510 [GRCh38] Chr9:101133792 [GRCh37] Chr9:9q22.33 |
likely pathogenic|uncertain significance |
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 |
copy number loss |
Gorlin syndrome [RCV002279743] |
Chr9:93864974..106661581 [GRCh37] Chr9:9q22.2-31.1 |
pathogenic |
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) |
copy number loss |
Distal tetrasomy 15q [RCV002280776] |
Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1 |
uncertain significance |
NM_005458.8(GABBR2):c.2119del (p.Ala707fs) |
deletion |
not provided [RCV002273559] |
Chr9:98306231 [GRCh38] Chr9:101068513 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2195G>T (p.Ser732Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV002288343] |
Chr9:98306155 [GRCh38] Chr9:101068437 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1987T>C (p.Tyr663His) |
single nucleotide variant |
not provided [RCV002269536] |
Chr9:98311112 [GRCh38] Chr9:101073394 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.493G>T (p.Asp165Tyr) |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV002289255] |
Chr9:98542010 [GRCh38] Chr9:101304292 [GRCh37] Chr9:9q22.33 |
likely pathogenic |
NM_005458.8(GABBR2):c.1065C>G (p.His355Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV002288259] |
Chr9:98454152 [GRCh38] Chr9:101216434 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.107C>T (p.Ala36Val) |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV002288443] |
Chr9:98708631 [GRCh38] Chr9:101470913 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2206C>T (p.Leu736Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV002289062] |
Chr9:98306144 [GRCh38] Chr9:101068426 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.692G>A (p.Ser231Asn) |
single nucleotide variant |
not provided [RCV002263507] |
Chr9:98496453 [GRCh38] Chr9:101258735 [GRCh37] Chr9:9q22.33 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 |
copy number gain |
See cases [RCV002292402] |
Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11 |
pathogenic |
NM_005458.8(GABBR2):c.1684G>A (p.Val562Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV002287248] |
Chr9:98371550 [GRCh38] Chr9:101133832 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer) |
insertion |
Developmental and epileptic encephalopathy, 59 [RCV003153163] |
Chr9:98708665..98708666 [GRCh38] Chr9:101470947..101470948 [GRCh37] Chr9:9q22.33 |
likely pathogenic |
NM_005458.8(GABBR2):c.1457C>T (p.Ser486Phe) |
single nucleotide variant |
not provided [RCV002469525] |
Chr9:98388926 [GRCh38] Chr9:101151208 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2229+3A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002858371] |
Chr9:98306118 [GRCh38] Chr9:101068400 [GRCh37] Chr9:9q22.33 |
uncertain significance |
GRCh37/hg19 9q22.33(chr9:101179298-101680286)x3 |
copy number gain |
not provided [RCV002474792] |
Chr9:101179298..101680286 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1987T>G (p.Tyr663Asp) |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV002470211] |
Chr9:98311112 [GRCh38] Chr9:101073394 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2396G>A (p.Arg799Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV002302928]|Inborn genetic diseases [RCV004973412] |
Chr9:98303257 [GRCh38] Chr9:101065539 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1236+10A>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002991689] |
Chr9:98453971 [GRCh38] Chr9:101216253 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2671C>T (p.Arg891Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV002303999] |
Chr9:98290739 [GRCh38] Chr9:101053021 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.916A>T (p.Asn306Tyr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002304125] |
Chr9:98473229 [GRCh38] Chr9:101235511 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2308G>A (p.Asp770Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV002294971] |
Chr9:98303345 [GRCh38] Chr9:101065627 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1001C>T (p.Thr334Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV002300005] |
Chr9:98454216 [GRCh38] Chr9:101216498 [GRCh37] Chr9:9q22.33 |
likely pathogenic|uncertain significance |
NM_005458.8(GABBR2):c.853T>C (p.Tyr285His) |
single nucleotide variant |
Epileptic encephalopathy [RCV002301283] |
Chr9:98473292 [GRCh38] Chr9:101235574 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.847G>C (p.Gly283Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV002298156] |
Chr9:98473298 [GRCh38] Chr9:101235580 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1683C>T (p.Thr561=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002614959] |
Chr9:98371551 [GRCh38] Chr9:101133833 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.732+8T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002863467] |
Chr9:98496405 [GRCh38] Chr9:101258687 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.83T>A (p.Leu28Gln) |
single nucleotide variant |
not provided [RCV002511364] |
Chr9:98708655 [GRCh38] Chr9:101470937 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.667G>A (p.Asp223Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV002616156]|not provided [RCV004809906] |
Chr9:98496478 [GRCh38] Chr9:101258760 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2283G>A (p.Gln761=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003015652] |
Chr9:98303370 [GRCh38] Chr9:101065652 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2800T>C (p.Phe934Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV002843679] |
Chr9:98290610 [GRCh38] Chr9:101052892 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2033C>G (p.Thr678Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV002690527] |
Chr9:98306317 [GRCh38] Chr9:101068599 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1000-3C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002816079]|Neurodevelopmental disorder with poor language and loss of hand skills [RCV004725392] |
Chr9:98454220 [GRCh38] Chr9:101216502 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.999+17C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003016886] |
Chr9:98473129 [GRCh38] Chr9:101235411 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.495T>C (p.Asp165=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002861335] |
Chr9:98542008 [GRCh38] Chr9:101304290 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.582G>C (p.Gln194His) |
single nucleotide variant |
Epileptic encephalopathy [RCV002816245] |
Chr9:98541921 [GRCh38] Chr9:101304203 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.967A>T (p.Ser323Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV002972555] |
Chr9:98473178 [GRCh38] Chr9:101235460 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2660+20G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002862126] |
Chr9:98293765 [GRCh38] Chr9:101056047 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2054C>T (p.Ala685Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV002907635] |
Chr9:98306296 [GRCh38] Chr9:101068578 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+4C>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003075367] |
Chr9:98306117 [GRCh38] Chr9:101068399 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.798+16G>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003015091] |
Chr9:98480916 [GRCh38] Chr9:101243198 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1920C>T (p.Ser640=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003033875] |
Chr9:98311179 [GRCh38] Chr9:101073461 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.402C>A (p.Val134=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002882134] |
Chr9:98577992 [GRCh38] Chr9:101340274 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.757G>A (p.Gly253Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV003014325] |
Chr9:98480973 [GRCh38] Chr9:101243255 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2661-12C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002843217] |
Chr9:98290761 [GRCh38] Chr9:101053043 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1204G>A (p.Ala402Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003034939] |
Chr9:98454013 [GRCh38] Chr9:101216295 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2053G>T (p.Ala685Ser) |
single nucleotide variant |
not provided [RCV002512383] |
Chr9:98306297 [GRCh38] Chr9:101068579 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1980C>T (p.Val660=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003012267] |
Chr9:98311119 [GRCh38] Chr9:101073401 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1997T>A (p.Leu666His) |
single nucleotide variant |
Epileptic encephalopathy [RCV002972000] |
Chr9:98311102 [GRCh38] Chr9:101073384 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.459+12G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002736389] |
Chr9:98577923 [GRCh38] Chr9:101340205 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2412+12T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002620503] |
Chr9:98303229 [GRCh38] Chr9:101065511 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.33G>T (p.Gly11=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002870760] |
Chr9:98708705 [GRCh38] Chr9:101470987 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2719A>G (p.Ile907Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV002825505] |
Chr9:98290691 [GRCh38] Chr9:101052973 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.64C>T (p.Arg22Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV002662922] |
Chr9:98708674 [GRCh38] Chr9:101470956 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1197C>T (p.Ile399=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002797241] |
Chr9:98454020 [GRCh38] Chr9:101216302 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.631-17T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002800513] |
Chr9:98496531 [GRCh38] Chr9:101258813 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1927C>T (p.Pro643Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV002824605] |
Chr9:98311172 [GRCh38] Chr9:101073454 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1572C>T (p.Ile524=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002847065] |
Chr9:98385730 [GRCh38] Chr9:101148012 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2672G>A (p.Arg891Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV002796720]|GABBR2-related disorder [RCV004753581] |
Chr9:98290738 [GRCh38] Chr9:101053020 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.631-13T>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002781179] |
Chr9:98496527 [GRCh38] Chr9:101258809 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1237-17T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002824193] |
Chr9:98406158 [GRCh38] Chr9:101168440 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.999G>C (p.Lys333Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV002846279] |
Chr9:98473146 [GRCh38] Chr9:101235428 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.576C>A (p.His192Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV003036520] |
Chr9:98541927 [GRCh38] Chr9:101304209 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2543-7C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002867873] |
Chr9:98293909 [GRCh38] Chr9:101056191 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.9C>T (p.Ser3=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003080157] |
Chr9:98708729 [GRCh38] Chr9:101471011 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2542+13G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003000011] |
Chr9:98299211 [GRCh38] Chr9:101061493 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2561T>G (p.Leu854Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002846125] |
Chr9:98293884 [GRCh38] Chr9:101056166 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.379C>T (p.His127Tyr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002846209] |
Chr9:98578015 [GRCh38] Chr9:101340297 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.234C>A (p.Leu78=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002999444] |
Chr9:98708504 [GRCh38] Chr9:101470786 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2543-13_2543-11del |
microsatellite |
Epileptic encephalopathy [RCV002592254] |
Chr9:98293913..98293915 [GRCh38] Chr9:101056195..101056197 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1656_1657del (p.Cys553fs) |
deletion |
Epileptic encephalopathy [RCV002824400] |
Chr9:98385645..98385646 [GRCh38] Chr9:101147927..101147928 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1466C>T (p.Thr489Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV002927066] |
Chr9:98388917 [GRCh38] Chr9:101151199 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1530G>C (p.Lys510Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV002760969] |
Chr9:98385772 [GRCh38] Chr9:101148054 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2613C>T (p.Pro871=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002848364] |
Chr9:98293832 [GRCh38] Chr9:101056114 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.513T>C (p.Tyr171=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002885951] |
Chr9:98541990 [GRCh38] Chr9:101304272 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.321+3G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003018838] |
Chr9:98708414 [GRCh38] Chr9:101470696 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.322-9G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002824914] |
Chr9:98578081 [GRCh38] Chr9:101340363 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1067G>C (p.Gly356Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV003000209] |
Chr9:98454150 [GRCh38] Chr9:101216432 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1378+10G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002912558] |
Chr9:98394165 [GRCh38] Chr9:101156447 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2602A>G (p.Thr868Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV002846373] |
Chr9:98293843 [GRCh38] Chr9:101056125 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2682C>G (p.Leu894=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003054212] |
Chr9:98290728 [GRCh38] Chr9:101053010 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.615T>G (p.Val205=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003021296] |
Chr9:98541888 [GRCh38] Chr9:101304170 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.797G>A (p.Cys266Tyr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003026047] |
Chr9:98480933 [GRCh38] Chr9:101243215 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2476A>G (p.Ile826Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002767412] |
Chr9:98299290 [GRCh38] Chr9:101061572 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1529+13G>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002597157] |
Chr9:98388841 [GRCh38] Chr9:101151123 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1198C>G (p.Leu400Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV003008123] |
Chr9:98454019 [GRCh38] Chr9:101216301 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1893+16C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003059402] |
Chr9:98362699 [GRCh38] Chr9:101124981 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.372G>C (p.Gly124=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002876826] |
Chr9:98578022 [GRCh38] Chr9:101340304 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1861C>T (p.Leu621=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002700963] |
Chr9:98362747 [GRCh38] Chr9:101125029 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1880A>G (p.Lys627Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003025215] |
Chr9:98362728 [GRCh38] Chr9:101125010 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2273G>A (p.Arg758Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV003024794] |
Chr9:98303380 [GRCh38] Chr9:101065662 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2554G>C (p.Ala852Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV003008196] |
Chr9:98293891 [GRCh38] Chr9:101056173 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2328G>T (p.Ser776=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002663923] |
Chr9:98303325 [GRCh38] Chr9:101065607 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2527_2532delinsACAGGTAAGAGCACAGGTAA (p.Phe843fs) |
indel |
Epileptic encephalopathy [RCV003041126] |
Chr9:98299234..98299239 [GRCh38] Chr9:101061516..101061521 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.821G>C (p.Gly274Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV003057628] |
Chr9:98473324 [GRCh38] Chr9:101235606 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.573G>A (p.Lys191=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003023127] |
Chr9:98541930 [GRCh38] Chr9:101304212 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2514C>T (p.Leu838=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002625158] |
Chr9:98299252 [GRCh38] Chr9:101061534 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.321+20T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002624062] |
Chr9:98708397 [GRCh38] Chr9:101470679 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.999+3C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002825677] |
Chr9:98473143 [GRCh38] Chr9:101235425 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2413-14C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002954177] |
Chr9:98299367 [GRCh38] Chr9:101061649 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1770+17del |
deletion |
Epileptic encephalopathy [RCV003084777] |
Chr9:98371447 [GRCh38] Chr9:101133729 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1338C>T (p.Ala446=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002623657] |
Chr9:98394215 [GRCh38] Chr9:101156497 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2568T>C (p.Asn856=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002890328] |
Chr9:98293877 [GRCh38] Chr9:101056159 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1258G>A (p.Gly420Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003041767] |
Chr9:98406120 [GRCh38] Chr9:101168402 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2734G>A (p.Ala912Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002710091]|Inborn genetic diseases [RCV002710092] |
Chr9:98290676 [GRCh38] Chr9:101052958 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2562A>T (p.Leu854Phe) |
single nucleotide variant |
Epileptic encephalopathy [RCV002894822]|Inborn genetic diseases [RCV002894823] |
Chr9:98293883 [GRCh38] Chr9:101056165 [GRCh37] Chr9:9q22.33 |
likely benign|uncertain significance |
NM_005458.8(GABBR2):c.1663-11A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003082350] |
Chr9:98371582 [GRCh38] Chr9:101133864 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2450A>C (p.Gln817Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV003042670] |
Chr9:98299316 [GRCh38] Chr9:101061598 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1239T>C (p.Gly413=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002928177] |
Chr9:98406139 [GRCh38] Chr9:101168421 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.459+4A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002740817] |
Chr9:98577931 [GRCh38] Chr9:101340213 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.24G>A (p.Gly8=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002644398] |
Chr9:98708714 [GRCh38] Chr9:101470996 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1620T>C (p.Asp540=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002766397] |
Chr9:98385682 [GRCh38] Chr9:101147964 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.142C>T (p.Arg48Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV002890596]|not provided [RCV003434516] |
Chr9:98708596 [GRCh38] Chr9:101470878 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.459+20C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV002643167] |
Chr9:98577915 [GRCh38] Chr9:101340197 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.543G>A (p.Ala181=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002890360] |
Chr9:98541960 [GRCh38] Chr9:101304242 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1298-4A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV002983040] |
Chr9:98394259 [GRCh38] Chr9:101156541 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.525C>T (p.Thr175=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003049234] |
Chr9:98541978 [GRCh38] Chr9:101304260 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1530-5G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003065723] |
Chr9:98385777 [GRCh38] Chr9:101148059 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.732+20G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002649867] |
Chr9:98496393 [GRCh38] Chr9:101258675 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2504A>G (p.Asn835Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV002601195] |
Chr9:98299262 [GRCh38] Chr9:101061544 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.282G>A (p.Leu94=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002632015] |
Chr9:98708456 [GRCh38] Chr9:101470738 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1128G>A (p.Leu376=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002811194] |
Chr9:98454089 [GRCh38] Chr9:101216371 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.460-20G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003031506] |
Chr9:98542063 [GRCh38] Chr9:101304345 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1662+15A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003065560] |
Chr9:98385625 [GRCh38] Chr9:101147907 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2403G>A (p.Lys801=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002630954] |
Chr9:98303250 [GRCh38] Chr9:101065532 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2543-14T>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003044283] |
Chr9:98293916 [GRCh38] Chr9:101056198 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.480G>C (p.Thr160=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003026847] |
Chr9:98542023 [GRCh38] Chr9:101304305 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1379-8T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002671794] |
Chr9:98389012 [GRCh38] Chr9:101151294 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2542+18C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV002599563] |
Chr9:98299206 [GRCh38] Chr9:101061488 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1904C>T (p.Ala635Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV003045132] |
Chr9:98311195 [GRCh38] Chr9:101073477 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2075T>C (p.Ile692Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003010040] |
Chr9:98306275 [GRCh38] Chr9:101068557 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2553G>A (p.Lys851=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003088455] |
Chr9:98293892 [GRCh38] Chr9:101056174 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1943G>A (p.Cys648Tyr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002963089] |
Chr9:98311156 [GRCh38] Chr9:101073438 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.163C>T (p.Pro55Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV002833852] |
Chr9:98708575 [GRCh38] Chr9:101470857 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.755T>A (p.Leu252His) |
single nucleotide variant |
Epileptic encephalopathy [RCV002833231] |
Chr9:98480975 [GRCh38] Chr9:101243257 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.999+10T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002857804] |
Chr9:98473136 [GRCh38] Chr9:101235418 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.875A>T (p.Gln292Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV002939064] |
Chr9:98473270 [GRCh38] Chr9:101235552 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2452G>A (p.Asp818Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV002811630] |
Chr9:98299314 [GRCh38] Chr9:101061596 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.339G>A (p.Gly113=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003030723] |
Chr9:98578055 [GRCh38] Chr9:101340337 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1000-12_1000-11del |
deletion |
Epileptic encephalopathy [RCV003087422] |
Chr9:98454228..98454229 [GRCh38] Chr9:101216510..101216511 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.12G>T (p.Pro4=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002649684] |
Chr9:98708726 [GRCh38] Chr9:101471008 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.322-20_322-17del |
microsatellite |
Epileptic encephalopathy [RCV003086376] |
Chr9:98578089..98578092 [GRCh38] Chr9:101340371..101340374 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1863G>T (p.Leu621=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002806394] |
Chr9:98362745 [GRCh38] Chr9:101125027 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.10C>A (p.Pro4Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002834911] |
Chr9:98708728 [GRCh38] Chr9:101471010 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.901C>T (p.Arg301Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV002746495] |
Chr9:98473244 [GRCh38] Chr9:101235526 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1389A>C (p.Pro463=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002605125] |
Chr9:98388994 [GRCh38] Chr9:101151276 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.683A>G (p.Asp228Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV002604936] |
Chr9:98496462 [GRCh38] Chr9:101258744 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1468A>G (p.Ile490Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV002583138] |
Chr9:98388915 [GRCh38] Chr9:101151197 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.902G>T (p.Arg301Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV002676766] |
Chr9:98473243 [GRCh38] Chr9:101235525 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.65G>A (p.Arg22His) |
single nucleotide variant |
Epileptic encephalopathy [RCV002585725] |
Chr9:98708673 [GRCh38] Chr9:101470955 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.51_56dup (p.Pro20_Ala21insProPro) |
duplication |
Epileptic encephalopathy [RCV002606411] |
Chr9:98708681..98708682 [GRCh38] Chr9:101470963..101470964 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.528C>G (p.Val176=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002609597] |
Chr9:98541975 [GRCh38] Chr9:101304257 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.136G>A (p.Ala46Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV002605051] |
Chr9:98708602 [GRCh38] Chr9:101470884 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.631-11T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV002609644] |
Chr9:98496525 [GRCh38] Chr9:101258807 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2764_2775del (p.Thr922_Pro925del) |
deletion |
Epileptic encephalopathy [RCV002814520] |
Chr9:98290635..98290646 [GRCh38] Chr9:101052917..101052928 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.591C>G (p.Arg197=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003052659] |
Chr9:98541912 [GRCh38] Chr9:101304194 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1611T>C (p.Phe537=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002942636] |
Chr9:98385691 [GRCh38] Chr9:101147973 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2115C>A (p.Ile705=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002612282] |
Chr9:98306235 [GRCh38] Chr9:101068517 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2145C>T (p.Asp715=) |
single nucleotide variant |
Epileptic encephalopathy [RCV002587946] |
Chr9:98306205 [GRCh38] Chr9:101068487 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.761A>G (p.Gln254Arg) |
single nucleotide variant |
not provided [RCV004780946] |
Chr9:98480969 [GRCh38] Chr9:101243251 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.580C>T (p.Gln194Ter) |
single nucleotide variant |
not provided [RCV004795004] |
Chr9:98541923 [GRCh38] Chr9:101304205 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.870G>A (p.Trp290Ter) |
single nucleotide variant |
not provided [RCV004779864] |
Chr9:98473275 [GRCh38] Chr9:101235557 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2777G>A (p.Arg926His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV003989823]|Epileptic encephalopathy [RCV003755019]|Inborn genetic diseases [RCV003186567] |
Chr9:98290633 [GRCh38] Chr9:101052915 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.325G>A (p.Asp109Asn) |
single nucleotide variant |
not provided [RCV003228482] |
Chr9:98578069 [GRCh38] Chr9:101340351 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1241A>C (p.Gln414Pro) |
single nucleotide variant |
not provided [RCV003221495] |
Chr9:98406137 [GRCh38] Chr9:101168419 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2146C>G (p.Gln716Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003206457] |
Chr9:98306204 [GRCh38] Chr9:101068486 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.240C>A (p.Ala80=) |
single nucleotide variant |
not provided [RCV003135297] |
Chr9:98708498 [GRCh38] Chr9:101470780 [GRCh37] Chr9:9q22.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005458.8(GABBR2):c.2107T>G (p.Cys703Gly) |
single nucleotide variant |
not provided [RCV003135298] |
Chr9:98306243 [GRCh38] Chr9:101068525 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.52C>G (p.Pro18Ala) |
single nucleotide variant |
not provided [RCV003135301] |
Chr9:98708686 [GRCh38] Chr9:101470968 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
not provided [RCV003135299] |
Chr9:98708734 [GRCh38] Chr9:101471016 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.539A>G (p.Asn180Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591998]|not provided [RCV003135300] |
Chr9:98541964 [GRCh38] Chr9:101304246 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.932T>C (p.Met311Thr) |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV003142534] |
Chr9:98473213 [GRCh38] Chr9:101235495 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.958G>C (p.Glu320Gln) |
single nucleotide variant |
not provided [RCV003229446] |
Chr9:98473187 [GRCh38] Chr9:101235469 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1510A>G (p.Ile504Val) |
single nucleotide variant |
not provided [RCV003228251] |
Chr9:98388873 [GRCh38] Chr9:101151155 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.468T>G (p.Phe156Leu) |
single nucleotide variant |
not provided [RCV003329627] |
Chr9:98542035 [GRCh38] Chr9:101304317 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2623T>A (p.Cys875Ser) |
single nucleotide variant |
not provided [RCV003387641] |
Chr9:98293822 [GRCh38] Chr9:101056104 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.631-16T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003872869] |
Chr9:98496530 [GRCh38] Chr9:101258812 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1363A>G (p.Thr455Ala) |
single nucleotide variant |
not specified [RCV003479780] |
Chr9:98394190 [GRCh38] Chr9:101156472 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.397G>A (p.Gly133Ser) |
single nucleotide variant |
not provided [RCV003443618] |
Chr9:98577997 [GRCh38] Chr9:101340279 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2733C>T (p.Asp911=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003825134] |
Chr9:98290677 [GRCh38] Chr9:101052959 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.742G>A (p.Val248Met) |
single nucleotide variant |
not provided [RCV003430155] |
Chr9:98480988 [GRCh38] Chr9:101243270 [GRCh37] Chr9:9q22.33 |
likely benign |
Single allele |
deletion |
not provided [RCV003448676] |
Chr9:92679543..109378847 [GRCh37] Chr9:9q22.2-31.2 |
pathogenic |
NM_005458.8(GABBR2):c.2425T>G (p.Leu809Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755042]|not provided [RCV003457561] |
Chr9:98299341 [GRCh38] Chr9:101061623 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2527T>G (p.Phe843Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 59 [RCV003445310] |
Chr9:98299239 [GRCh38] Chr9:101061521 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.818A>G (p.Tyr273Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755040]|not provided [RCV003443933] |
Chr9:98473327 [GRCh38] Chr9:101235609 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.127G>C (p.Ala43Pro) |
single nucleotide variant |
not provided [RCV003430156] |
Chr9:98708611 [GRCh38] Chr9:101470893 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2413-6T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003592061] |
Chr9:98299359 [GRCh38] Chr9:101061641 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.620G>C (p.Arg207Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592120] |
Chr9:98541883 [GRCh38] Chr9:101304165 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2313dup (p.Lys772Ter) |
duplication |
Epileptic encephalopathy [RCV003592597] |
Chr9:98303339..98303340 [GRCh38] Chr9:101065621..101065622 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1808G>A (p.Gly603Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592478] |
Chr9:98362800 [GRCh38] Chr9:101125082 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1529+17C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003592156] |
Chr9:98388837 [GRCh38] Chr9:101151119 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2099G>A (p.Gly700Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592504] |
Chr9:98306251 [GRCh38] Chr9:101068533 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.425T>C (p.Ile142Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592512] |
Chr9:98577969 [GRCh38] Chr9:101340251 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1828T>C (p.Cys610Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592533] |
Chr9:98362780 [GRCh38] Chr9:101125062 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2411A>C (p.Glu804Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592215] |
Chr9:98303242 [GRCh38] Chr9:101065524 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.799-17C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003592556] |
Chr9:98473363 [GRCh38] Chr9:101235645 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1304G>T (p.Arg435Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592558] |
Chr9:98394249 [GRCh38] Chr9:101156531 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1919C>T (p.Ser640Phe) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592225] |
Chr9:98311180 [GRCh38] Chr9:101073462 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.459+20_459+22del |
microsatellite |
Epileptic encephalopathy [RCV003592227] |
Chr9:98577913..98577915 [GRCh38] Chr9:101340195..101340197 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.306G>C (p.Arg102=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003875850] |
Chr9:98708432 [GRCh38] Chr9:101470714 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1577G>C (p.Gly526Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592104] |
Chr9:98385725 [GRCh38] Chr9:101148007 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.115G>T (p.Ala39Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592114] |
Chr9:98708623 [GRCh38] Chr9:101470905 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1000-5T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003592435] |
Chr9:98454222 [GRCh38] Chr9:101216504 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.52C>T (p.Pro18Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591523] |
Chr9:98708686 [GRCh38] Chr9:101470968 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1119G>T (p.Met373Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591533] |
Chr9:98454098 [GRCh38] Chr9:101216380 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1707G>A (p.Gly569=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591476] |
Chr9:98371527 [GRCh38] Chr9:101133809 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.643C>A (p.Leu215Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591594] |
Chr9:98496502 [GRCh38] Chr9:101258784 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2443C>A (p.Gln815Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592657] |
Chr9:98299323 [GRCh38] Chr9:101061605 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1893+3A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003592698] |
Chr9:98362712 [GRCh38] Chr9:101124994 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.328A>C (p.Asn110His) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592726] |
Chr9:98578066 [GRCh38] Chr9:101340348 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1530-13T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003592677] |
Chr9:98385785 [GRCh38] Chr9:101148067 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.561G>C (p.Leu187=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592846] |
Chr9:98541942 [GRCh38] Chr9:101304224 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.343A>G (p.Lys115Glu) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592849] |
Chr9:98578051 [GRCh38] Chr9:101340333 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2413-10del |
deletion |
Epileptic encephalopathy [RCV003592947] |
Chr9:98299363 [GRCh38] Chr9:101061645 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1342A>G (p.Thr448Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV003593082] |
Chr9:98394211 [GRCh38] Chr9:101156493 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1771-9G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003836059] |
Chr9:98362846 [GRCh38] Chr9:101125128 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.999+8C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003593130] |
Chr9:98473138 [GRCh38] Chr9:101235420 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.592G>A (p.Val198Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV003593346] |
Chr9:98541911 [GRCh38] Chr9:101304193 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.78A>C (p.Leu26=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003593191] |
Chr9:98708660 [GRCh38] Chr9:101470942 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1410C>A (p.Ile470=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003593274] |
Chr9:98388973 [GRCh38] Chr9:101151255 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.590G>T (p.Arg197Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755329] |
Chr9:98541913 [GRCh38] Chr9:101304195 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.792C>A (p.Phe264Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755232] |
Chr9:98480938 [GRCh38] Chr9:101243220 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1379-20G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003756508] |
Chr9:98389024 [GRCh38] Chr9:101151306 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.56C>A (p.Pro19Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755267] |
Chr9:98708682 [GRCh38] Chr9:101470964 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.920T>G (p.Leu307Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755364] |
Chr9:98473225 [GRCh38] Chr9:101235507 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1424G>T (p.Arg475Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755559] |
Chr9:98388959 [GRCh38] Chr9:101151241 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.911G>C (p.Arg304Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755608] |
Chr9:98473234 [GRCh38] Chr9:101235516 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.21C>G (p.Ser7=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756631] |
Chr9:98708717 [GRCh38] Chr9:101470999 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2322C>A (p.Ser774=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592678] |
Chr9:98303331 [GRCh38] Chr9:101065613 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2646A>T (p.Ile882=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003593320] |
Chr9:98293799 [GRCh38] Chr9:101056081 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.454G>C (p.Val152Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756039]|not provided [RCV004593430] |
Chr9:98577940 [GRCh38] Chr9:101340222 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.90_101dup (p.Leu35_Ala36insLeuLeuProLeu) |
duplication |
Epileptic encephalopathy [RCV003756047] |
Chr9:98708636..98708637 [GRCh38] Chr9:101470918..101470919 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1254G>A (p.Arg418=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756059] |
Chr9:98406124 [GRCh38] Chr9:101168406 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1228G>A (p.Gly410Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755515] |
Chr9:98453989 [GRCh38] Chr9:101216271 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1503C>T (p.Phe501=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756076] |
Chr9:98388880 [GRCh38] Chr9:101151162 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.732+7G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003592937] |
Chr9:98496406 [GRCh38] Chr9:101258688 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.39G>A (p.Pro13=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755210] |
Chr9:98708699 [GRCh38] Chr9:101470981 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2413-4_2413-3delinsCC |
indel |
Epileptic encephalopathy [RCV003755535] |
Chr9:98299356..98299357 [GRCh38] Chr9:101061638..101061639 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.977A>G (p.Gln326Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755554] |
Chr9:98473168 [GRCh38] Chr9:101235450 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1963A>G (p.Ile655Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755560] |
Chr9:98311136 [GRCh38] Chr9:101073418 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1530-12_1530-11del |
deletion |
Epileptic encephalopathy [RCV003756102] |
Chr9:98385783..98385784 [GRCh38] Chr9:101148065..101148066 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1663-10T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003756347] |
Chr9:98371581 [GRCh38] Chr9:101133863 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2074A>G (p.Ile692Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV003593054] |
Chr9:98306276 [GRCh38] Chr9:101068558 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.798+19T>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003755290] |
Chr9:98480913 [GRCh38] Chr9:101243195 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.931A>G (p.Met311Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756092] |
Chr9:98473214 [GRCh38] Chr9:101235496 [GRCh37] Chr9:9q22.33 |
benign |
NM_005458.8(GABBR2):c.2526C>G (p.Asn842Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755403] |
Chr9:98299240 [GRCh38] Chr9:101061522 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1581G>A (p.Gly527=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756414] |
Chr9:98385721 [GRCh38] Chr9:101148003 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1778A>G (p.Lys593Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755666] |
Chr9:98362830 [GRCh38] Chr9:101125112 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.198G>A (p.Lys66=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756244] |
Chr9:98708540 [GRCh38] Chr9:101470822 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1771-7T>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003756249] |
Chr9:98362844 [GRCh38] Chr9:101125126 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2571C>A (p.His857Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV003837612] |
Chr9:98293874 [GRCh38] Chr9:101056156 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2543-17T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003755059] |
Chr9:98293919 [GRCh38] Chr9:101056201 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2348C>G (p.Ala783Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV003832870] |
Chr9:98303305 [GRCh38] Chr9:101065587 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1771-15C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003755602] |
Chr9:98362852 [GRCh38] Chr9:101125134 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.731A>G (p.Lys244Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755249] |
Chr9:98496414 [GRCh38] Chr9:101258696 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1037G>A (p.Arg346Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755226] |
Chr9:98454180 [GRCh38] Chr9:101216462 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2338G>A (p.Val780Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755236] |
Chr9:98303315 [GRCh38] Chr9:101065597 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1771-19G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003756532] |
Chr9:98362856 [GRCh38] Chr9:101125138 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2413-8T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003755231] |
Chr9:98299361 [GRCh38] Chr9:101061643 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2122G>T (p.Ala708Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756397] |
Chr9:98306228 [GRCh38] Chr9:101068510 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.306G>A (p.Arg102=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756420] |
Chr9:98708432 [GRCh38] Chr9:101470714 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.779C>G (p.Ala260Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756470] |
Chr9:98480951 [GRCh38] Chr9:101243233 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1966T>C (p.Trp656Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755441] |
Chr9:98311133 [GRCh38] Chr9:101073415 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.142C>G (p.Arg48Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755448] |
Chr9:98708596 [GRCh38] Chr9:101470878 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.824G>A (p.Ser275Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755457] |
Chr9:98473321 [GRCh38] Chr9:101235603 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1529+17del |
deletion |
Epileptic encephalopathy [RCV003755374] |
Chr9:98388837 [GRCh38] Chr9:101151119 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.735G>A (p.Gly245=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755435]|not provided [RCV004585054] |
Chr9:98480995 [GRCh38] Chr9:101243277 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1280A>C (p.Lys427Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755309] |
Chr9:98406098 [GRCh38] Chr9:101168380 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1634C>T (p.Ser545Phe) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755315] |
Chr9:98385668 [GRCh38] Chr9:101147950 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.492C>T (p.Ala164=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003816034] |
Chr9:98542011 [GRCh38] Chr9:101304293 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1667G>A (p.Arg556Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755462] |
Chr9:98371567 [GRCh38] Chr9:101133849 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2542+9G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003593206] |
Chr9:98299215 [GRCh38] Chr9:101061497 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2461G>A (p.Glu821Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756191] |
Chr9:98299305 [GRCh38] Chr9:101061587 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2544T>C (p.Asp848=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003855551] |
Chr9:98293901 [GRCh38] Chr9:101056183 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2542+3A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003755343] |
Chr9:98299221 [GRCh38] Chr9:101061503 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.799-14T>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003755294] |
Chr9:98473360 [GRCh38] Chr9:101235642 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2172G>A (p.Val724=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755439] |
Chr9:98306178 [GRCh38] Chr9:101068460 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.33G>A (p.Gly11=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755656] |
Chr9:98708705 [GRCh38] Chr9:101470987 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.512A>T (p.Tyr171Phe) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755514] |
Chr9:98541991 [GRCh38] Chr9:101304273 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.322-9G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003755609] |
Chr9:98578081 [GRCh38] Chr9:101340363 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.263T>A (p.Ile88Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755426] |
Chr9:98708475 [GRCh38] Chr9:101470757 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.508C>A (p.Pro170Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755672] |
Chr9:98541995 [GRCh38] Chr9:101304277 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1037G>T (p.Arg346Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755643] |
Chr9:98454180 [GRCh38] Chr9:101216462 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1236+14C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003855824] |
Chr9:98453967 [GRCh38] Chr9:101216249 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1909C>T (p.Arg637Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755064] |
Chr9:98311190 [GRCh38] Chr9:101073472 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1054A>G (p.Ser352Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755738] |
Chr9:98454163 [GRCh38] Chr9:101216445 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.686C>A (p.Thr229Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755526] |
Chr9:98496459 [GRCh38] Chr9:101258741 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1527G>T (p.Gln509His) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755684] |
Chr9:98388856 [GRCh38] Chr9:101151138 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.231G>A (p.Val77=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756138] |
Chr9:98708507 [GRCh38] Chr9:101470789 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1379-14T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003756167] |
Chr9:98389018 [GRCh38] Chr9:101151300 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1236+13C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003755731] |
Chr9:98453968 [GRCh38] Chr9:101216250 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1330G>A (p.Ala444Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755834]|Inborn genetic diseases [RCV004371827] |
Chr9:98394223 [GRCh38] Chr9:101156505 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1545G>T (p.Ser515=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755081] |
Chr9:98385757 [GRCh38] Chr9:101148039 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.321+17C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003756204] |
Chr9:98708400 [GRCh38] Chr9:101470682 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1108C>T (p.Gln370Ter) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755912] |
Chr9:98454109 [GRCh38] Chr9:101216391 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1455C>T (p.Leu485=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755779] |
Chr9:98388928 [GRCh38] Chr9:101151210 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2229+8C>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003755881] |
Chr9:98306113 [GRCh38] Chr9:101068395 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.92TGC[4] (p.Leu33_Pro34insLeu) |
microsatellite |
Epileptic encephalopathy [RCV003755888] |
Chr9:98708637..98708638 [GRCh38] Chr9:101470919..101470920 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2230-8C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003755713] |
Chr9:98303431 [GRCh38] Chr9:101065713 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2586C>T (p.Pro862=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755748] |
Chr9:98293859 [GRCh38] Chr9:101056141 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.912G>T (p.Arg304=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755987] |
Chr9:98473233 [GRCh38] Chr9:101235515 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2741G>A (p.Cys914Tyr) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755100] |
Chr9:98290669 [GRCh38] Chr9:101052951 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.491C>A (p.Ala164Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755173] |
Chr9:98542012 [GRCh38] Chr9:101304294 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1529+14G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003755871] |
Chr9:98388840 [GRCh38] Chr9:101151122 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.6T>A (p.Ala2=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755207] |
Chr9:98708732 [GRCh38] Chr9:101471014 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.21C>T (p.Ser7=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003756513] |
Chr9:98708717 [GRCh38] Chr9:101470999 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1026CAA[2] (p.Asn344del) |
microsatellite |
Epileptic encephalopathy [RCV003755092] |
Chr9:98454183..98454185 [GRCh38] Chr9:101216465..101216467 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.666G>A (p.Glu222=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755144] |
Chr9:98496479 [GRCh38] Chr9:101258761 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.321+10C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003592487] |
Chr9:98708407 [GRCh38] Chr9:101470689 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.132G>A (p.Arg44=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003816605] |
Chr9:98708606 [GRCh38] Chr9:101470888 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1663-4C>G |
single nucleotide variant |
Epileptic encephalopathy [RCV003755133] |
Chr9:98371575 [GRCh38] Chr9:101133857 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1533C>G (p.Leu511=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755082] |
Chr9:98385769 [GRCh38] Chr9:101148051 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1150C>T (p.Arg384Trp) |
single nucleotide variant |
Epileptic encephalopathy [RCV003755160] |
Chr9:98454067 [GRCh38] Chr9:101216349 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1542G>A (p.Met514Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591330] |
Chr9:98385760 [GRCh38] Chr9:101148042 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.297C>T (p.Leu99=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591154] |
Chr9:98708441 [GRCh38] Chr9:101470723 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1379-16T>C |
single nucleotide variant |
Epileptic encephalopathy [RCV003591163] |
Chr9:98389020 [GRCh38] Chr9:101151302 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1339G>A (p.Asp447Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV003871935] |
Chr9:98394214 [GRCh38] Chr9:101156496 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.438C>T (p.Leu146=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003591181] |
Chr9:98577956 [GRCh38] Chr9:101340238 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2257G>T (p.Ala753Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV003870332]|GABBR2-related disorder [RCV004753733] |
Chr9:98303396 [GRCh38] Chr9:101065678 [GRCh37] Chr9:9q22.33 |
benign|uncertain significance |
NM_005458.8(GABBR2):c.1893+16C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003868363] |
Chr9:98362699 [GRCh38] Chr9:101124981 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1155C>T (p.Ile385=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003869717] |
Chr9:98454062 [GRCh38] Chr9:101216344 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1378+6G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003822868] |
Chr9:98394169 [GRCh38] Chr9:101156451 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.799-20A>T |
single nucleotide variant |
Epileptic encephalopathy [RCV003823002] |
Chr9:98473366 [GRCh38] Chr9:101235648 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.89_91dup (p.Pro30_Leu31insPro) |
duplication |
Epileptic encephalopathy [RCV003847945] |
Chr9:98708646..98708647 [GRCh38] Chr9:101470928..101470929 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2004+4G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV003823427] |
Chr9:98311091 [GRCh38] Chr9:101073373 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.131G>C (p.Arg44Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV003862234] |
Chr9:98708607 [GRCh38] Chr9:101470889 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.745C>A (p.Arg249=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003822003] |
Chr9:98480985 [GRCh38] Chr9:101243267 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2010C>T (p.Phe670=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003847256] |
Chr9:98306340 [GRCh38] Chr9:101068622 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.181C>T (p.Leu61Phe) |
single nucleotide variant |
not specified [RCV003988439] |
Chr9:98708557 [GRCh38] Chr9:101470839 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.312T>C (p.Tyr104=) |
single nucleotide variant |
not provided [RCV003886711] |
Chr9:98708426 [GRCh38] Chr9:101470708 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2787T>A (p.His929Gln) |
single nucleotide variant |
not provided [RCV004722146] |
Chr9:98290623 [GRCh38] Chr9:101052905 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2011G>A (p.Gly671Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004619030] |
Chr9:98306339 [GRCh38] Chr9:101068621 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NC_000009.11:g.(?_101470679)_(101611374_?)del |
deletion |
Epileptic encephalopathy [RCV004581897] |
Chr9:101470679..101611374 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.803A>G (p.Tyr268Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004619031] |
Chr9:98473342 [GRCh38] Chr9:101235624 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1066G>A (p.Gly356Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004619029] |
Chr9:98454151 [GRCh38] Chr9:101216433 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1330G>T (p.Ala444Ser) |
single nucleotide variant |
not provided [RCV004599077] |
Chr9:98394223 [GRCh38] Chr9:101156505 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1988A>G (p.Tyr663Cys) |
single nucleotide variant |
not provided [RCV004772327] |
Chr9:98311111 [GRCh38] Chr9:101073393 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1688del (p.Gly563fs) |
deletion |
not provided [RCV004725871] |
Chr9:98371546 [GRCh38] Chr9:101133828 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2788G>A (p.Val930Met) |
single nucleotide variant |
GABBR2-related disorder [RCV004752594] |
Chr9:98290622 [GRCh38] Chr9:101052904 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1118T>C (p.Met373Thr) |
single nucleotide variant |
GABBR2-related disorder [RCV004753798] |
Chr9:98454099 [GRCh38] Chr9:101216381 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.848G>T (p.Gly283Val) |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV004771765] |
Chr9:98473297 [GRCh38] Chr9:101235579 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.971C>T (p.Ser324Phe) |
single nucleotide variant |
GABBR2-related disorder [RCV004730502] |
Chr9:98473174 [GRCh38] Chr9:101235456 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2683C>A (p.Gln895Lys) |
single nucleotide variant |
Neurodevelopmental disorder with poor language and loss of hand skills [RCV004785847] |
Chr9:98290727 [GRCh38] Chr9:101053009 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.776T>C (p.Met259Thr) |
single nucleotide variant |
not provided [RCV004774249] |
Chr9:98480954 [GRCh38] Chr9:101243236 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2767G>T (p.Ala923Ser) |
single nucleotide variant |
not provided [RCV004721836] |
Chr9:98290643 [GRCh38] Chr9:101052925 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2412+1dup |
duplication |
not provided [RCV004763111] |
|
uncertain significance |
NM_005458.8(GABBR2):c.2066G>A (p.Ser689Asn) |
single nucleotide variant |
not provided [RCV004760165] |
|
uncertain significance |
NM_005458.8(GABBR2):c.2499G>T (p.Glu833Asp) |
single nucleotide variant |
not provided [RCV004763772] |
|
uncertain significance |
NM_005458.8(GABBR2):c.667G>T (p.Asp223Tyr) |
single nucleotide variant |
not provided [RCV004722239] |
Chr9:98496478 [GRCh38] Chr9:101258760 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.206C>T (p.Ala69Val) |
single nucleotide variant |
not provided [RCV004723924] |
Chr9:98708532 [GRCh38] Chr9:101470814 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1153A>T (p.Ile385Phe) |
single nucleotide variant |
Epileptic encephalopathy [RCV005061751]|Inborn genetic diseases [RCV004983620] |
Chr9:98454064 [GRCh38] Chr9:101216346 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.322-1G>A |
single nucleotide variant |
not provided [RCV004820601] |
Chr9:98578073 [GRCh38] Chr9:101340355 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1212C>A (p.Asn404Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004980324] |
Chr9:98454005 [GRCh38] Chr9:101216287 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2662A>C (p.Ile888Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004980323] |
Chr9:98290748 [GRCh38] Chr9:101053030 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1829G>A (p.Cys610Tyr) |
single nucleotide variant |
not provided [RCV004820618] |
Chr9:98362779 [GRCh38] Chr9:101125061 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2315A>G (p.Lys772Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV005175700] |
Chr9:98303338 [GRCh38] Chr9:101065620 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2812G>A (p.Val938Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV005172951] |
Chr9:98290598 [GRCh38] Chr9:101052880 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2486A>G (p.Asn829Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV005085560] |
Chr9:98299280 [GRCh38] Chr9:101061562 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2768C>T (p.Ala923Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV005146571] |
Chr9:98290642 [GRCh38] Chr9:101052924 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2130C>G (p.Ser710=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005147231] |
Chr9:98306220 [GRCh38] Chr9:101068502 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1059G>A (p.Lys353=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005173677] |
Chr9:98454158 [GRCh38] Chr9:101216440 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2008T>C (p.Phe670Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV005173904] |
Chr9:98306342 [GRCh38] Chr9:101068624 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.915G>A (p.Lys305=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005175001] |
Chr9:98473230 [GRCh38] Chr9:101235512 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.459+13C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV005196949] |
Chr9:98577922 [GRCh38] Chr9:101340204 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1000-18A>C |
single nucleotide variant |
Epileptic encephalopathy [RCV005196065] |
Chr9:98454235 [GRCh38] Chr9:101216517 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.898T>C (p.Ser300Pro) |
single nucleotide variant |
Epileptic encephalopathy [RCV005147013] |
Chr9:98473247 [GRCh38] Chr9:101235529 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.321+1G>A |
single nucleotide variant |
not provided [RCV005054759] |
Chr9:98708416 [GRCh38] Chr9:101470698 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1125A>G (p.Thr375=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005172644] |
Chr9:98454092 [GRCh38] Chr9:101216374 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2704G>A (p.Ala902Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV005171815] |
Chr9:98290706 [GRCh38] Chr9:101052988 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.203T>C (p.Val68Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV005065522] |
Chr9:98708535 [GRCh38] Chr9:101470817 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1253G>A (p.Arg418Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV005183402] |
Chr9:98406125 [GRCh38] Chr9:101168407 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.732+10G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV005129368] |
Chr9:98496403 [GRCh38] Chr9:101258685 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2157G>T (p.Val719=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005134100] |
Chr9:98306193 [GRCh38] Chr9:101068475 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2542+9G>C |
single nucleotide variant |
Epileptic encephalopathy [RCV005119141] |
Chr9:98299215 [GRCh38] Chr9:101061497 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2752T>C (p.Cys918Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV005122370] |
Chr9:98290658 [GRCh38] Chr9:101052940 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2660+2dup |
duplication |
Epileptic encephalopathy [RCV005117192] |
Chr9:98293782..98293783 [GRCh38] Chr9:101056064..101056065 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1529A>G (p.Lys510Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV005164545] |
Chr9:98388854 [GRCh38] Chr9:101151136 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1527G>C (p.Gln509His) |
single nucleotide variant |
Epileptic encephalopathy [RCV005164546] |
Chr9:98388856 [GRCh38] Chr9:101151138 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2229+4C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV005157734] |
Chr9:98306117 [GRCh38] Chr9:101068399 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2457A>G (p.Thr819=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005182177] |
Chr9:98299309 [GRCh38] Chr9:101061591 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1217C>T (p.Thr406Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV005131828] |
Chr9:98454000 [GRCh38] Chr9:101216282 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.799-11A>G |
single nucleotide variant |
Epileptic encephalopathy [RCV005158534] |
Chr9:98473357 [GRCh38] Chr9:101235639 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2543-13G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV005131005] |
Chr9:98293915 [GRCh38] Chr9:101056197 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.896C>T (p.Ser299Leu) |
single nucleotide variant |
Epileptic encephalopathy [RCV005132210] |
Chr9:98473249 [GRCh38] Chr9:101235531 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.26_34dup (p.Gly11_Pro12insGlnProGly) |
duplication |
Epileptic encephalopathy [RCV005149120] |
Chr9:98708703..98708704 [GRCh38] Chr9:101470985..101470986 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2506G>T (p.Asp836Tyr) |
single nucleotide variant |
Epileptic encephalopathy [RCV005079926] |
Chr9:98299260 [GRCh38] Chr9:101061542 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2596T>A (p.Trp866Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV005120013] |
Chr9:98293849 [GRCh38] Chr9:101056131 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.154A>G (p.Ser52Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV005116340] |
Chr9:98708584 [GRCh38] Chr9:101470866 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1736A>G (p.His579Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV005191034] |
Chr9:98371498 [GRCh38] Chr9:101133780 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.557T>C (p.Ile186Thr) |
single nucleotide variant |
Epileptic encephalopathy [RCV005176362] |
Chr9:98541946 [GRCh38] Chr9:101304228 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2539A>G (p.Thr847Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV005111204] |
Chr9:98299227 [GRCh38] Chr9:101061509 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2617C>A (p.Arg873=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005161908] |
Chr9:98293828 [GRCh38] Chr9:101056110 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1338C>G (p.Ala446=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005135503] |
Chr9:98394215 [GRCh38] Chr9:101156497 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.321+18C>G |
single nucleotide variant |
Epileptic encephalopathy [RCV005167973] |
Chr9:98708399 [GRCh38] Chr9:101470681 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2406C>G (p.Ile802Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV005118313] |
Chr9:98303247 [GRCh38] Chr9:101065529 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.881A>G (p.His294Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV005168192] |
Chr9:98473264 [GRCh38] Chr9:101235546 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.799-15C>T |
single nucleotide variant |
Epileptic encephalopathy [RCV005081612] |
Chr9:98473361 [GRCh38] Chr9:101235643 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.871G>A (p.Glu291Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV005125544] |
Chr9:98473274 [GRCh38] Chr9:101235556 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1467C>T (p.Thr489=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005187883] |
Chr9:98388916 [GRCh38] Chr9:101151198 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1217C>A (p.Thr406Asn) |
single nucleotide variant |
Epileptic encephalopathy [RCV005071180] |
Chr9:98454000 [GRCh38] Chr9:101216282 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2243G>A (p.Arg748Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV005142051] |
Chr9:98303410 [GRCh38] Chr9:101065692 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.30C>G (p.Pro10=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005144675] |
Chr9:98708708 [GRCh38] Chr9:101470990 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.448A>G (p.Asn150Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV005191923] |
Chr9:98577946 [GRCh38] Chr9:101340228 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.33GCC[2] (p.Pro17_Pro20del) |
microsatellite |
Epileptic encephalopathy [RCV005165615] |
Chr9:98708688..98708699 [GRCh38] Chr9:101470970..101470981 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2413C>T (p.Leu805=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005140836] |
Chr9:98299353 [GRCh38] Chr9:101061635 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.701A>G (p.Asn234Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV005167740] |
Chr9:98496444 [GRCh38] Chr9:101258726 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1077C>T (p.Tyr359=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005081463] |
Chr9:98454140 [GRCh38] Chr9:101216422 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1534A>G (p.Ile512Val) |
single nucleotide variant |
Epileptic encephalopathy [RCV005179189] |
Chr9:98385768 [GRCh38] Chr9:101148050 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2103C>G (p.Ile701Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV005142103] |
Chr9:98306247 [GRCh38] Chr9:101068529 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1104A>G (p.Thr368=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005165521] |
Chr9:98454113 [GRCh38] Chr9:101216395 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.999+16C>A |
single nucleotide variant |
Epileptic encephalopathy [RCV005204988] |
Chr9:98473130 [GRCh38] Chr9:101235412 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2484G>A (p.Gln828=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005134367] |
Chr9:98299282 [GRCh38] Chr9:101061564 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1018A>G (p.Arg340Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV005080163] |
Chr9:98454199 [GRCh38] Chr9:101216481 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.856G>C (p.Glu286Gln) |
single nucleotide variant |
Epileptic encephalopathy [RCV005137997] |
Chr9:98473289 [GRCh38] Chr9:101235571 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1378+6G>T |
single nucleotide variant |
Epileptic encephalopathy [RCV005138000] |
Chr9:98394169 [GRCh38] Chr9:101156451 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1344A>G (p.Thr448=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005205223] |
Chr9:98394209 [GRCh38] Chr9:101156491 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1041A>G (p.Ser347=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005161036] |
Chr9:98454176 [GRCh38] Chr9:101216458 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.787G>A (p.Val263Met) |
single nucleotide variant |
Epileptic encephalopathy [RCV005139997] |
Chr9:98480943 [GRCh38] Chr9:101243225 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2399T>A (p.Met800Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV005140909] |
Chr9:98303254 [GRCh38] Chr9:101065536 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.72ACTGCT[3] (p.Leu29_Pro30insLeuLeu) |
microsatellite |
Epileptic encephalopathy [RCV005166874] |
Chr9:98708654..98708655 [GRCh38] Chr9:101470936..101470937 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.87G>T (p.Leu29=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005207892] |
Chr9:98708651 [GRCh38] Chr9:101470933 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1836G>C (p.Leu612=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005207955] |
Chr9:98362772 [GRCh38] Chr9:101125054 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.435C>G (p.Ser145=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005165708] |
Chr9:98577959 [GRCh38] Chr9:101340241 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2611C>G (p.Pro871Ala) |
single nucleotide variant |
Epileptic encephalopathy [RCV005132962] |
Chr9:98293834 [GRCh38] Chr9:101056116 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.813C>T (p.Asn271=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005166342] |
Chr9:98473332 [GRCh38] Chr9:101235614 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.2796C>G (p.Pro932=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005159032] |
Chr9:98290614 [GRCh38] Chr9:101052896 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1065C>T (p.His355=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005185620] |
Chr9:98454152 [GRCh38] Chr9:101216434 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.300C>T (p.Asp100=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005083824] |
Chr9:98708438 [GRCh38] Chr9:101470720 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.138C>T (p.Ala46=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005156887] |
Chr9:98708600 [GRCh38] Chr9:101470882 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.474A>C (p.Ala158=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005137513] |
Chr9:98542029 [GRCh38] Chr9:101304311 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.687C>A (p.Thr229=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005149408] |
Chr9:98496458 [GRCh38] Chr9:101258740 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1305G>A (p.Arg435=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005154922] |
Chr9:98394248 [GRCh38] Chr9:101156530 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1337C>A (p.Ala446Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV005127247] |
Chr9:98394216 [GRCh38] Chr9:101156498 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2341A>C (p.Asn781His) |
single nucleotide variant |
Epileptic encephalopathy [RCV005179149] |
Chr9:98303312 [GRCh38] Chr9:101065594 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2664C>A (p.Ile888=) |
single nucleotide variant |
Epileptic encephalopathy [RCV005070654] |
Chr9:98290746 [GRCh38] Chr9:101053028 [GRCh37] Chr9:9q22.33 |
likely benign |
NM_005458.8(GABBR2):c.1955A>G (p.His652Arg) |
single nucleotide variant |
Epileptic encephalopathy [RCV005149709] |
Chr9:98311144 [GRCh38] Chr9:101073426 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.1371G>T (p.Arg457Ser) |
single nucleotide variant |
Epileptic encephalopathy [RCV005205650] |
Chr9:98394182 [GRCh38] Chr9:101156464 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2667G>T (p.Gln889His) |
single nucleotide variant |
Epileptic encephalopathy [RCV005110695] |
Chr9:98290743 [GRCh38] Chr9:101053025 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.2044A>G (p.Ser682Gly) |
single nucleotide variant |
Epileptic encephalopathy [RCV005176463] |
Chr9:98306306 [GRCh38] Chr9:101068588 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.868T>C (p.Trp290Arg) |
single nucleotide variant |
not provided [RCV004811281] |
Chr9:98473277 [GRCh38] Chr9:101235559 [GRCh37] Chr9:9q22.33 |
uncertain significance |
NM_005458.8(GABBR2):c.423C>T (p.Ile141=) |
single nucleotide variant |
Epileptic encephalopathy [RCV003592043]|not provided [RCV003457562] |
Chr9:98577971 [GRCh38] Chr9:101340253 [GRCh37] Chr9:9q22.33 |
likely benign |