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# | Reference Title | Reference Citation |
1. | Functional characterization of the new human GABA(A) receptor mutation beta3(R192H). | Buhr A, etal., Hum Genet. 2002 Aug;111(2):154-60. Epub 2002 Jul 16. |
2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
7. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
8. | A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. | Urak L, etal., Hum Mol Genet. 2006 Aug 15;15(16):2533-41. Epub 2006 Jul 11. |
PMID:1346439 | PMID:1664410 | PMID:1714232 | PMID:8136833 | PMID:8175718 | PMID:8382702 | PMID:8389098 | PMID:9039914 | PMID:9126483 | PMID:9328477 | PMID:10023064 | PMID:10514831 |
PMID:10515160 | PMID:11085308 | PMID:11140838 | PMID:11528422 | PMID:11711165 | PMID:11810291 | PMID:11920158 | PMID:12048673 | PMID:12225856 | PMID:12367595 | PMID:12477932 | PMID:12491987 |
PMID:12595241 | PMID:12640458 | PMID:12973656 | PMID:14503638 | PMID:14702039 | PMID:14724252 | PMID:15028279 | PMID:15066703 | PMID:15198677 | PMID:15296817 | PMID:15318112 | PMID:15337300 |
PMID:15489334 | PMID:15615769 | PMID:15767729 | PMID:16023997 | PMID:16080114 | PMID:16344560 | PMID:16537435 | PMID:16674551 | PMID:16712791 | PMID:17124266 | PMID:17215107 | PMID:17225872 |
PMID:17230033 | PMID:17272867 | PMID:17326191 | PMID:17339270 | PMID:17471287 | PMID:17880575 | PMID:17957331 | PMID:18085588 | PMID:18281286 | PMID:18358985 | PMID:18452349 | PMID:18514161 |
PMID:18650446 | PMID:18821008 | PMID:18837046 | PMID:18978678 | PMID:19058789 | PMID:19078961 | PMID:19086053 | PMID:19268543 | PMID:19430570 | PMID:19598235 | PMID:19717274 | PMID:19734545 |
PMID:19736351 | PMID:19874574 | PMID:19935738 | PMID:19937600 | PMID:20308251 | PMID:20379614 | PMID:20468064 | PMID:20550555 | PMID:20634891 | PMID:20834067 | PMID:20843900 | PMID:21873635 |
PMID:21908847 | PMID:22080424 | PMID:22243422 | PMID:22303015 | PMID:22414661 | PMID:22812221 | PMID:23438326 | PMID:23677991 | PMID:24199598 | PMID:24249596 | PMID:24709693 | PMID:24722188 |
PMID:24755890 | PMID:24865167 | PMID:24909990 | PMID:25025424 | PMID:25086038 | PMID:25211390 | PMID:25489750 | PMID:26186194 | PMID:26950270 | PMID:28053010 | PMID:28514442 | PMID:28528665 |
PMID:28544625 | PMID:29162865 | PMID:29196882 | PMID:29725984 | PMID:29961870 | PMID:30074174 | PMID:30140029 | PMID:30545943 | PMID:30602789 | PMID:30908890 | PMID:31435640 | PMID:31610743 |
PMID:32376074 | PMID:32513696 | PMID:32540960 | PMID:33961781 | PMID:34698933 | PMID:34906499 | PMID:35355020 | PMID:35383156 | PMID:35562522 | PMID:36446382 | PMID:37019319 | PMID:37647766 |
PMID:38287309 |
GABRB3 (Homo sapiens - human) |
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Gabrb3 (Mus musculus - house mouse) |
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Gabrb3 (Rattus norvegicus - Norway rat) |
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Gabrb3 (Chinchilla lanigera - long-tailed chinchilla) |
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GABRB3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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GABRB3 (Canis lupus familiaris - dog) |
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Gabrb3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GABRB3 (Sus scrofa - pig) |
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GABRB3 (Chlorocebus sabaeus - green monkey) |
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Gabrb3 (Heterocephalus glaber - naked mole-rat) |
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Variants in GABRB3
471 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000525350]|Inborn genetic diseases [RCV002413573] | Chr15:26772467 [GRCh38] Chr15:27017614 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003129879]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001034398]|Inborn genetic diseases [RCV002527474]|not provided [RCV001707717]|not specified [RCV000516729] | Chr15:26547950 [GRCh38] Chr15:26793097 [GRCh37] Chr15:15q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000814.6(GABRB3):c.650G>A (p.Arg217His) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003133118]|Epilepsy, childhood absence, susceptibility to, 1 [RCV000703382]|Insomnia [RCV000017574]|SUDDEN INFANT DEATH SYNDROME [RCV001787803] | Chr15:26580351 [GRCh38] Chr15:26825498 [GRCh37] Chr15:15q12 |
pathogenic|likely benign|uncertain significance |
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000989276]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001511952]|Epilepsy, childhood absence, susceptibility to, 5 [RCV000017575]|Epilepsy, childhood absence, susceptibility to, 5 [RCV003224101]|Inborn genetic diseases [RCV002313713]|not provided [RCV001701568]|not specified [RCV000203153] | Chr15:26773694 [GRCh38] Chr15:27018841 [GRCh37] Chr15:15q12 |
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001460762]|Epilepsy, childhood absence, susceptibility to, 5 [RCV000017576]|Inborn genetic diseases [RCV002326679]|not provided [RCV001719697]|not specified [RCV000414639] | Chr15:26773681 [GRCh38] Chr15:27018828 [GRCh37] Chr15:15q12 |
risk factor|likely benign|uncertain significance |
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002513081]|Epilepsy, childhood absence, susceptibility to, 5 [RCV000017577]|Global developmental delay [RCV000735321]|not provided [RCV001770039] | Chr15:26772759 [GRCh38] Chr15:27017906 [GRCh37] Chr15:15q12 |
risk factor|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000050782] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1241G>T (p.Arg414Leu) | single nucleotide variant | not provided [RCV000518986] | Chr15:26547974 [GRCh38] Chr15:26793121 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.914C>A (p.Ala305Asp) | single nucleotide variant | not provided [RCV000519511] | Chr15:26561098 [GRCh38] Chr15:26806245 [GRCh37] Chr15:15q12 |
likely pathogenic |
Single allele | deletion | Prader-Willi syndrome [RCV000520873] | Chr15:23707435..28520316 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.156A>T (p.Leu52=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000551460]|Inborn genetic diseases [RCV002404497] | Chr15:26772697 [GRCh38] Chr15:27017844 [GRCh37] Chr15:15q12 |
likely benign |
NM_021912.4(GABRB3):c.461+8819G>A | single nucleotide variant | Lung cancer [RCV000099372] | Chr15:26612495 [GRCh38] Chr15:26857642 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.4(GABRB3):c.241-25354C>A | single nucleotide variant | Lung cancer [RCV000099373] | Chr15:26646888 [GRCh38] Chr15:26892035 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.4(GABRB3):c.241-56509G>T | single nucleotide variant | Lung cancer [RCV000099374] | Chr15:26678043 [GRCh38] Chr15:26923190 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.4(GABRB3):c.240+58221A>T | single nucleotide variant | Lung cancer [RCV000099375] | Chr15:26714181 [GRCh38] Chr15:26959328 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.4(GABRB3):c.240+46369C>A | single nucleotide variant | Lung cancer [RCV000099376] | Chr15:26726033 [GRCh38] Chr15:26971180 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] | Chr15:23319714..28785371 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000050783] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28314256)x1 | copy number loss | See cases [RCV000050850] | Chr15:23411789..28314256 [GRCh38] Chr15:23656936..28557186 [GRCh37] Chr15:21208377..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 | copy number gain | See cases [RCV000050557] | Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 | copy number loss | See cases [RCV000050559] | Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 | copy number loss | See cases [RCV000050742] | Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 | copy number loss | See cases [RCV000050733] | Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:25161216-28190742)x1 | copy number loss | See cases [RCV000051583] | Chr15:25161216..28190742 [GRCh38] Chr15:25406363..28435888 [GRCh37] Chr15:22957456..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 | copy number gain | See cases [RCV000051112] | Chr15:23319714..32607357 [GRCh38] Chr15:22698522..32899558 [GRCh37] Chr15:20249886..30686850 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 | copy number loss | See cases [RCV000051053] | Chr15:23319714..28314256 [GRCh38] Chr15:23300238..28557186 [GRCh37] Chr15:20851679..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3 | copy number gain | See cases [RCV000051813] | Chr15:23319714..28681287 [GRCh38] Chr15:23510051..28926433 [GRCh37] Chr15:21061492..26725474 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3 | copy number gain | See cases [RCV000051814] | Chr15:23320410..28460005 [GRCh38] Chr15:23565551..28812483 [GRCh37] Chr15:21116992..26611524 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28446455)x3 | copy number gain | See cases [RCV000051816] | Chr15:23411589..28446455 [GRCh38] Chr15:23656736..28691601 [GRCh37] Chr15:21208177..26365196 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28281294)x3 | copy number gain | See cases [RCV000051818] | Chr15:23411789..28281294 [GRCh38] Chr15:23656936..28526440 [GRCh37] Chr15:21208377..26200035 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:24780911-29668996)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051820]|See cases [RCV000051820] | Chr15:24780911..29668996 [GRCh38] Chr15:25026058..29961200 [GRCh37] Chr15:22577151..27748492 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1 | copy number loss | See cases [RCV000052353] | Chr15:23319714..30109283 [GRCh38] Chr15:22669052..30401486 [GRCh37] Chr15:20220416..28188778 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x1 | copy number loss | See cases [RCV000052355] | Chr15:23319714..28275308 [GRCh38] Chr15:22698322..28520454 [GRCh37] Chr15:20249686..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 | copy number loss | See cases [RCV000052356] | Chr15:23319714..28446314 [GRCh38] Chr15:22698522..28691460 [GRCh37] Chr15:20249886..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 | copy number loss | See cases [RCV000052357] | Chr15:23319714..28275167 [GRCh38] Chr15:22698522..28520313 [GRCh37] Chr15:20249886..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1 | copy number loss | See cases [RCV000052358] | Chr15:23319714..28197267 [GRCh38] Chr15:22779922..28442413 [GRCh37] Chr15:20331286..26116008 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28446314)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052400]|See cases [RCV000052400] | Chr15:23411789..28446314 [GRCh38] Chr15:23656936..28691460 [GRCh37] Chr15:21208377..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1 | copy number loss | See cases [RCV000052402] | Chr15:23450287..28446314 [GRCh38] Chr15:23695434..28691460 [GRCh37] Chr15:21246527..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28275308)x1 | copy number loss | See cases [RCV000052403] | Chr15:23462105..28275308 [GRCh38] Chr15:23707252..28520454 [GRCh37] Chr15:21258345..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28190742)x1 | copy number loss | See cases [RCV000052406] | Chr15:23462305..28190742 [GRCh38] Chr15:23707452..28435888 [GRCh37] Chr15:21258545..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23494211-28281294)x1 | copy number loss | See cases [RCV000052409] | Chr15:23494211..28281294 [GRCh38] Chr15:23739358..28526440 [GRCh37] Chr15:21290451..26200035 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28269468)x1 | copy number loss | See cases [RCV000052410] | Chr15:23537429..28269468 [GRCh38] Chr15:23782576..28514614 [GRCh37] Chr15:21333669..26188209 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23537429-28275167)x1 | copy number loss | See cases [RCV000052411] | Chr15:23537429..28275167 [GRCh38] Chr15:23782576..28520313 [GRCh37] Chr15:21333669..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 | copy number gain | See cases [RCV000052339] | Chr15:20002460..30349193 [GRCh38] Chr15:20207713..30641396 [GRCh37] Chr15:18467727..28428688 [NCBI36] Chr15:15q11.1-13.2 |
pathogenic |
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 | copy number gain | See cases [RCV000052340] | Chr15:20002460..32121422 [GRCh38] Chr15:20207713..32413623 [GRCh37] Chr15:18467727..30200915 [NCBI36] Chr15:15q11.1-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 | copy number loss | See cases [RCV000052345] | Chr15:22030646..28694952 [GRCh38] Chr15:22318597..28940098 [GRCh37] Chr15:19819961..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1 | copy number loss | See cases [RCV000052372] | Chr15:23337069..28272443 [GRCh38] Chr15:23582216..28517589 [GRCh37] Chr15:21133657..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28197267)x1 | copy number loss | See cases [RCV000052374] | Chr15:23375083..28197267 [GRCh38] Chr15:23620230..28442413 [GRCh37] Chr15:21171671..26116008 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375083-28272443)x1 | copy number loss | See cases [RCV000052376] | Chr15:23375083..28272443 [GRCh38] Chr15:23620230..28517589 [GRCh37] Chr15:21171671..26191184 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 | copy number loss | See cases [RCV000052348] | Chr15:22144677..30349193 [GRCh38] Chr15:22432628..30641396 [GRCh37] Chr15:19933992..28428688 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3 | copy number gain | See cases [RCV000052349] | Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x3 | copy number gain | See cases [RCV000052378] | Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28190742)x1 | copy number loss | See cases [RCV000052379] | Chr15:23398620..28190742 [GRCh38] Chr15:23643767..28435888 [GRCh37] Chr15:21195208..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1 | copy number loss | See cases [RCV000052380] | Chr15:23398620..28446314 [GRCh38] Chr15:23643767..28691460 [GRCh37] Chr15:21195208..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411589-28275308)x1 | copy number loss | See cases [RCV000052381] | Chr15:23411589..28275308 [GRCh38] Chr15:23656736..28520454 [GRCh37] Chr15:21208177..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1 | copy number loss | See cases [RCV000052350] | Chr15:23319714..28190742 [GRCh38] Chr15:22669052..28435888 [GRCh37] Chr15:20220416..26109483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q12(chr15:26575931-27051075)x1 | copy number loss | See cases [RCV000051951] | Chr15:26575931..27051075 [GRCh38] Chr15:26821078..27296222 [GRCh37] Chr15:24372171..24878968 [NCBI36] Chr15:15q12 |
uncertain significance |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 | copy number gain | See cases [RCV000052300] | Chr15:19879749..28918517 [GRCh38] Chr15:20085002..29210720 [GRCh37] Chr15:18345016..26998012 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 | copy number gain | See cases [RCV000052301] | Chr15:19879749..28702163 [GRCh38] Chr15:20085002..28947309 [GRCh37] Chr15:18345016..26746350 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 | copy number gain | See cases [RCV000052305] | Chr15:19879750..27865713 [GRCh38] Chr15:20085003..28178425 [GRCh37] Chr15:18345017..25852020 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 | copy number gain | See cases [RCV000052308] | Chr15:19905469..28163751 [GRCh38] Chr15:20110722..28408897 [GRCh37] Chr15:18370736..26082492 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 | copy number gain | See cases [RCV000053207] | Chr15:20046515..28385894 [GRCh38] Chr15:20251768..28631040 [GRCh37] Chr15:18511782..26304635 [NCBI36] Chr15:15q11.1-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 | copy number gain | See cases [RCV000053208] | Chr15:23319714..32607498 [GRCh38] Chr15:22698322..32899699 [GRCh37] Chr15:20249686..30686991 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] | Chr15:22358243..28481444 [GRCh38] Chr15:22698322..28940239 [GRCh37] Chr15:20249686..26739280 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | Renal adysplasia [RCV000053224]|See cases [RCV000053224] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-12(chr15:23319714-27051075)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053226]|See cases [RCV000053226] | Chr15:23319714..27051075 [GRCh38] Chr15:22698522..27296222 [GRCh37] Chr15:20249886..24878968 [NCBI36] Chr15:15q11.2-12 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30527306)x4 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053227]|See cases [RCV000053227] | Chr15:23319714..30527306 [GRCh38] Chr15:22698522..30819509 [GRCh37] Chr15:20249886..28606801 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000053229] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000053231] | Chr15:22358243..28481444 [GRCh38] Chr15:22765428..28940239 [GRCh37] Chr15:20316792..26739280 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 | copy number gain | See cases [RCV000053232] | Chr15:23319714..28275167 [GRCh38] Chr15:22765628..28520313 [GRCh37] Chr15:20316992..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 | copy number gain | See cases [RCV000053233] | Chr15:23319714..30073921 [GRCh38] Chr15:22863854..30366124 [GRCh37] Chr15:20415295..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446455)x3 | copy number gain | See cases [RCV000053234] | Chr15:23319714..28446455 [GRCh38] Chr15:23300038..28691601 [GRCh37] Chr15:20851479..26365196 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275308)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053235]|See cases [RCV000053235] | Chr15:23319714..28275308 [GRCh38] Chr15:23300038..28520454 [GRCh37] Chr15:20851479..26194049 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.307C>T (p.Pro103Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001867143] | Chr15:26621468 [GRCh38] Chr15:26866615 [GRCh37] Chr15:24417708 [NCBI36] Chr15:15q12 |
uncertain significance|not provided |
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) | single nucleotide variant | Developmental and epileptic encephalopathy, 1 [RCV000662203]|Developmental and epileptic encephalopathy, 43 [RCV003333096]|Epilepsy, childhood absence, susceptibility to, 1 [RCV000662204] | Chr15:26561171 [GRCh38] Chr15:26806318 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_021912.4(GABRB3):c.461+15886C>G | single nucleotide variant | Lung cancer [RCV000111410] | Chr15:26605428 [GRCh38] Chr15:26850575 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 | copy number loss | not provided [RCV002292908] | Chr15:20739497..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003132520]|not provided [RCV001572154] | Chr15:26580420 [GRCh38] Chr15:26825567 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.245A>G (p.Tyr82Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001349445] | Chr15:26621530 [GRCh38] Chr15:26866677 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 | copy number gain | See cases [RCV000050781] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3 | copy number gain | See cases [RCV000053224] | Chr15:23319714..30361733 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:20249886..28441228 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3 | copy number gain | See cases [RCV000053230] | Chr15:23319714..30073921 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:20249886..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1 | copy number loss | See cases [RCV000134719] | Chr15:23462288..28694922 [GRCh38] Chr15:23707435..28940068 [GRCh37] Chr15:21258528..26739109 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23439508-28154050)x1 | copy number loss | See cases [RCV000134437] | Chr15:23439508..28154050 [GRCh38] Chr15:23684655..28399196 [GRCh37] Chr15:21236096..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28275170)x1 | copy number loss | See cases [RCV000134053] | Chr15:23462288..28275170 [GRCh38] Chr15:23707435..28520316 [GRCh37] Chr15:21258528..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3 | copy number gain | See cases [RCV000134062] | Chr15:23319714..28275170 [GRCh38] Chr15:22765637..28520316 [GRCh37] Chr15:20317001..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1 | copy number loss | See cases [RCV000134074] | Chr15:23319714..28347620 [GRCh38] Chr15:23353638..28592766 [GRCh37] Chr15:20905079..26266361 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000134082] | Chr15:22358243..28481444 [GRCh38] Chr15:22652047..28705151 [GRCh37] Chr15:20203411..26524679 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28314291)x1 | copy number loss | See cases [RCV000134115] | Chr15:23462288..28314291 [GRCh38] Chr15:23707435..28557186 [GRCh37] Chr15:21258528..26233032 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1 | copy number loss | See cases [RCV000135313] | Chr15:23328044..28154050 [GRCh38] Chr15:22860857..28399196 [GRCh37] Chr15:20412298..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28275170)x1 | copy number loss | See cases [RCV000134776] | Chr15:23410917..28275170 [GRCh38] Chr15:23656064..28520316 [GRCh37] Chr15:21207505..26193911 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000134755] | Chr15:22358243..28481444 [GRCh38] Chr15:22765637..29085888 [GRCh37] Chr15:20317001..26884929 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000134756] | Chr15:22358243..28481444 [GRCh38] Chr15:22765637..29085888 [GRCh37] Chr15:20317001..26884929 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4 | copy number gain | See cases [RCV000135743] | Chr15:23319714..30361733 [GRCh38] Chr15:22698522..30653936 [GRCh37] Chr15:20249886..28441228 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000135744] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 | copy number gain | See cases [RCV000135745] | Chr15:23319714..30073921 [GRCh38] Chr15:22698522..30366124 [GRCh37] Chr15:20249886..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 | copy number loss | See cases [RCV000135860] | Chr15:23319714..28314256 [GRCh38] Chr15:22698522..28557186 [GRCh37] Chr15:20249886..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 | copy number gain | See cases [RCV000135583] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..28940098 [GRCh37] Chr15:20249886..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|uncertain significance |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x3 | copy number gain | See cases [RCV000135505] | Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3 | copy number gain | See cases [RCV000135506] | Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4 | copy number gain | See cases [RCV000135973] | Chr15:23319714..30073876 [GRCh38] Chr15:22765637..30366079 [GRCh37] Chr15:20317001..28153371 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 | copy number loss | See cases [RCV000135953] | Chr15:23319714..38089582 [GRCh38] Chr15:22698522..38381783 [GRCh37] Chr15:20249886..36169075 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462105-28290061)x1 | copy number loss | See cases [RCV000135892] | Chr15:23462105..28290061 [GRCh38] Chr15:23707252..28535207 [GRCh37] Chr15:21258345..26208802 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3 | copy number gain | See cases [RCV000137064] | Chr15:23462305..28694952 [GRCh38] Chr15:23707452..28940098 [GRCh37] Chr15:21258545..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3 | copy number gain | See cases [RCV000137099] | Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28557186 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28314256)x1 | copy number loss | See cases [RCV000136950] | Chr15:23462305..28314256 [GRCh38] Chr15:23707452..28557186 [GRCh37] Chr15:21258545..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4 | copy number gain | See cases [RCV000137100] | Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28559402 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 | copy number gain | See cases [RCV000136964] | Chr15:20480943..30217181 [GRCh38] Chr15:20686196..30509384 [GRCh37] Chr15:18946210..28296676 [NCBI36] Chr15:15q11.1-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1 | copy number loss | See cases [RCV000136811] | Chr15:23319714..28280314 [GRCh38] Chr15:22784523..28525460 [GRCh37] Chr15:20335887..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23454554-28280314)x1 | copy number loss | See cases [RCV000136734] | Chr15:23454554..28280314 [GRCh38] Chr15:23699701..28525460 [GRCh37] Chr15:21250794..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28280314)x3 | copy number gain | See cases [RCV000136752] | Chr15:23411789..28280314 [GRCh38] Chr15:23656936..28525460 [GRCh37] Chr15:21208377..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4 | copy number gain | See cases [RCV000137578] | Chr15:23319714..30361733 [GRCh38] Chr15:22765628..30653936 [GRCh37] Chr15:20316992..28441228 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4 | copy number gain | See cases [RCV000137630] | Chr15:23319714..30073921 [GRCh38] Chr15:22765628..30366124 [GRCh37] Chr15:20316992..28153416 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x3 | copy number gain | See cases [RCV000137393] | Chr15:23422864..28280314 [GRCh38] Chr15:23668011..28525460 [GRCh37] Chr15:21219452..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28280314)x1 | copy number loss | See cases [RCV000137394] | Chr15:23422864..28280314 [GRCh38] Chr15:23668011..28525460 [GRCh37] Chr15:21219452..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23523934-28280314)x1 | copy number loss | See cases [RCV000137270] | Chr15:23523934..28280314 [GRCh38] Chr15:23769081..28525460 [GRCh37] Chr15:21320174..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|likely pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 | copy number gain | See cases [RCV000138132] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29006852 [GRCh37] Chr15:20316992..26805893 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000138133] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29006852 [GRCh37] Chr15:20316992..26805893 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 | copy number gain | See cases [RCV000137945] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28912057 [GRCh37] Chr15:20316992..26711098 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|likely benign |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28314256)x1 | copy number loss | See cases [RCV000137953] | Chr15:23422864..28314256 [GRCh38] Chr15:23668011..28557186 [GRCh37] Chr15:21219452..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1 | copy number loss | See cases [RCV000138857] | Chr15:23462288..28446301 [GRCh38] Chr15:23707435..28691447 [GRCh37] Chr15:21258528..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 | copy number gain | See cases [RCV000138530] | Chr15:23319714..38545325 [GRCh38] Chr15:22765628..38837526 [GRCh37] Chr15:20316992..36624818 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 | copy number gain | See cases [RCV000138622] | Chr15:23319714..32607357 [GRCh38] Chr15:22765637..32899558 [GRCh37] Chr15:20317001..30686850 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 | copy number loss | See cases [RCV000138308] | Chr15:23319714..32384654 [GRCh38] Chr15:22765628..32676855 [GRCh37] Chr15:20316992..30464147 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1 | copy number loss | See cases [RCV000139335] | Chr15:23410917..28446301 [GRCh38] Chr15:23656064..28691447 [GRCh37] Chr15:21207505..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 | copy number gain | See cases [RCV000139101] | Chr15:23319714..31175232 [GRCh38] Chr15:22765637..31467435 [GRCh37] Chr15:20317001..29254727 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3 | copy number gain | See cases [RCV000139162] | Chr15:23319714..28446301 [GRCh38] Chr15:23300254..28691447 [GRCh37] Chr15:20851695..26365042 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4 | copy number gain | See cases [RCV000139948] | Chr15:23328044..28638603 [GRCh38] Chr15:22652060..28883749 [GRCh37] Chr15:20203424..26682790 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28289312)x1 | copy number loss | See cases [RCV000139980] | Chr15:23370621..28289312 [GRCh38] Chr15:23615768..28534458 [GRCh37] Chr15:21167209..26208053 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300209)x1 | copy number loss | See cases [RCV000139986] | Chr15:23375044..28300209 [GRCh38] Chr15:23620191..28545355 [GRCh37] Chr15:21171632..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000140240] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28940098 [GRCh37] Chr15:20316992..26739139 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1 | copy number loss | See cases [RCV000140454] | Chr15:23328044..28578576 [GRCh38] Chr15:22770421..28823722 [GRCh37] Chr15:20321785..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23999707-28314256)x1 | copy number loss | See cases [RCV000139647] | Chr15:23999707..28314256 [GRCh38] Chr15:24244854..28557186 [GRCh37] Chr15:21795947..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 | copy number gain | See cases [RCV000139610] | Chr15:23319714..32217731 [GRCh38] Chr15:22765637..32509932 [GRCh37] Chr15:20317001..30297224 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000141251] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28976193 [GRCh37] Chr15:20316992..26775234 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 | copy number gain | See cases [RCV000140623] | Chr15:19840581..32621939 [GRCh38] Chr15:20045834..32914140 [GRCh37] Chr15:18305848..30701432 [NCBI36] Chr15:15q11.1-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 | copy number loss | See cases [RCV000140712] | Chr15:23319714..28446314 [GRCh38] Chr15:22765628..28691460 [GRCh37] Chr15:20316992..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000140871] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29096442 [GRCh37] Chr15:20316992..26895483 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1 | copy number loss | See cases [RCV000140888] | Chr15:23328044..28300209 [GRCh38] Chr15:23286571..28545355 [GRCh37] Chr15:20838012..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 | copy number gain | See cases [RCV000140619] | Chr15:21581401..28332641 [GRCh38] Chr15:22304596..28577787 [GRCh37] Chr15:19805960..26251382 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3 | copy number gain | See cases [RCV000140622] | Chr15:23328044..28154050 [GRCh38] Chr15:23569415..28399196 [GRCh37] Chr15:21120856..26072791 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1 | copy number loss | See cases [RCV000141946] | Chr15:23370621..28414765 [GRCh38] Chr15:23615768..28659911 [GRCh37] Chr15:21167209..26333506 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28414892)x1 | copy number loss | See cases [RCV000141728] | Chr15:23370622..28414892 [GRCh38] Chr15:23615769..28660038 [GRCh37] Chr15:21167210..26333633 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1 | copy number loss | See cases [RCV000141730] | Chr15:23328044..28836775 [GRCh38] Chr15:22770421..29081921 [GRCh37] Chr15:20321785..26880962 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1 | copy number loss | See cases [RCV000142069] | Chr15:23328044..28315123 [GRCh38] Chr15:22770421..28560269 [GRCh37] Chr15:20321785..26233864 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1 | copy number loss | See cases [RCV000142233] | Chr15:23328044..28315951 [GRCh38] Chr15:23290786..28561097 [GRCh37] Chr15:20842227..26234692 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1 | copy number loss | See cases [RCV000142103] | Chr15:23328044..28464569 [GRCh38] Chr15:22770421..28709715 [GRCh37] Chr15:20321785..26378746 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1 | copy number loss | See cases [RCV000142234] | Chr15:23370621..28578576 [GRCh38] Chr15:23615768..28823722 [GRCh37] Chr15:21167209..26622763 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23375044-28300358)x1 | copy number loss | See cases [RCV000142170] | Chr15:23375044..28300358 [GRCh38] Chr15:23620191..28545504 [GRCh37] Chr15:21171632..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1 | copy number loss | See cases [RCV000142132] | Chr15:23328044..28300358 [GRCh38] Chr15:23286571..28545504 [GRCh37] Chr15:20838012..26219099 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1 | copy number loss | See cases [RCV000142046] | Chr15:23328044..30077815 [GRCh38] Chr15:23276605..30370018 [GRCh37] Chr15:20828046..28157310 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23398620-28280314)x3 | copy number gain | See cases [RCV000142854] | Chr15:23398620..28280314 [GRCh38] Chr15:23643767..28525460 [GRCh37] Chr15:21195208..26199055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1 | copy number loss | See cases [RCV000142766] | Chr15:23319714..28314256 [GRCh38] Chr15:22765628..28559402 [GRCh37] Chr15:20316992..26232997 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000142795] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..28912057 [GRCh37] Chr15:20316992..26711098 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000142713] | Chr15:22358243..28481444 [GRCh38] Chr15:22765628..29085896 [GRCh37] Chr15:20316992..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4 | copy number gain | See cases [RCV000142791] | Chr15:23319714..30527306 [GRCh38] Chr15:22765628..30819509 [GRCh37] Chr15:20316992..28606801 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4 | copy number gain | See cases [RCV000143379] | Chr15:23328044..30094350 [GRCh38] Chr15:22770421..30386553 [GRCh37] Chr15:20321785..28173845 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28389912)x1 | copy number loss | See cases [RCV000143443] | Chr15:23370622..28389912 [GRCh38] Chr15:23615769..28635058 [GRCh37] Chr15:21167210..26308653 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1 | copy number loss | See cases [RCV000143183] | Chr15:23422864..28446314 [GRCh38] Chr15:23668011..28691460 [GRCh37] Chr15:21219452..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1 | copy number loss | See cases [RCV000143185] | Chr15:23422864..28460005 [GRCh38] Chr15:23668011..28801348 [GRCh37] Chr15:21219452..26600389 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4 | copy number gain | See cases [RCV000143291] | Chr15:23328044..28683584 [GRCh38] Chr15:22770421..28928730 [GRCh37] Chr15:20321785..26727771 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1 | copy number loss | See cases [RCV000143226] | Chr15:23328044..30023809 [GRCh38] Chr15:22770422..30316012 [GRCh37] Chr15:20321786..28103304 [NCBI36] Chr15:15q11.2-13.2 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 | copy number loss | See cases [RCV000143205] | Chr15:25033869..37204304 [GRCh38] Chr15:25279016..37496505 [GRCh37] Chr15:22830109..35283797 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-12(chr15:24051424-27222420)x1 | copy number loss | See cases [RCV000143716] | Chr15:24051424..27222420 [GRCh38] Chr15:24296571..27467567 [GRCh37] Chr15:21847664..25050313 [NCBI36] Chr15:15q11.2-12 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 | copy number gain | See cases [RCV000148084] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29085896 [GRCh37] Chr15:20249886..26884937 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1 | copy number loss | See cases [RCV000143702] | Chr15:23328044..28294829 [GRCh38] Chr15:22770421..28539975 [GRCh37] Chr15:20321785..26213570 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23370622-28300209)x1 | copy number loss | See cases [RCV000143744] | Chr15:23370622..28300209 [GRCh38] Chr15:23615769..28545355 [GRCh37] Chr15:21167210..26218950 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 | copy number gain | See cases [RCV000148060] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 | copy number loss | See cases [RCV000148061] | Chr15:22358243..28481444 [GRCh38] Chr15:22698522..29030517 [GRCh37] Chr15:20249886..26829558 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3 | copy number gain | See cases [RCV000148062] | Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23444168-28277347)x3 | copy number gain | See cases [RCV000143666] | Chr15:23444168..28277347 [GRCh38] Chr15:23689315..28522493 [GRCh37] Chr15:21240408..26196088 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23462305-28275167)x1 | copy number loss | See cases [RCV000148063] | Chr15:23462305..28275167 [GRCh38] Chr15:23707452..28520313 [GRCh37] Chr15:21258545..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 | copy number gain | See cases [RCV000143653] | Chr15:23328044..32151843 [GRCh38] Chr15:23282829..32444044 [GRCh37] Chr15:20834270..30231336 [NCBI36] Chr15:15q11.2-13.3 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3 | copy number gain | See cases [RCV000143479] | Chr15:23328044..28713633 [GRCh38] Chr15:22770421..28958779 [GRCh37] Chr15:20321785..26757820 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1 | copy number loss | See cases [RCV000143483] | Chr15:23328044..28478308 [GRCh38] Chr15:22770421..28723454 [GRCh37] Chr15:20321785..26378746 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1 | copy number loss | See cases [RCV000148195] | Chr15:23319714..28275167 [GRCh38] Chr15:23300238..28520313 [GRCh37] Chr15:20851679..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1 | copy number loss | See cases [RCV000148164] | Chr15:23411789..28275167 [GRCh38] Chr15:23656936..28520313 [GRCh37] Chr15:21208377..26193908 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1 | copy number loss | See cases [RCV000148194] | Chr15:23319714..28446314 [GRCh38] Chr15:22698522..28691460 [GRCh37] Chr15:20249886..26365055 [NCBI36] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 5 [RCV000191088] | Chr15:26567721 [GRCh38] Chr15:26812868 [GRCh37] Chr15:15q12 |
likely pathogenic |
NC_000015.9:g.(?_23730704)_(28530182_?)del | deletion | Angelman syndrome [RCV000191153] | Chr15:23730704..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3 | copy number gain | See cases [RCV000240207] | Chr15:20848460..27662530 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 | copy number gain | See cases [RCV000240220] | Chr15:20190548..32917857 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000548416]|not provided [RCV001755853]|not specified [RCV003323607] | Chr15:26560934 [GRCh38] Chr15:26806081 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1081-10G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000229816]|not provided [RCV001705246] | Chr15:26548144 [GRCh38] Chr15:26793291 [GRCh37] Chr15:15q12 |
likely benign |
Single allele | duplication | Autism spectrum disorder [RCV000225455] | Chr15:20044342..28924405 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
Single allele | duplication | Autism spectrum disorder [RCV000225563] | Chr15:25334522..28369712 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | duplication | Autism spectrum disorder [RCV000225599] | Chr15:23624148..28790734 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.5(GABRB3):c.-114_*4247del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV000227033] | Chr15:26543546..26773076 [GRCh38] Chr15:26788693..27018223 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 | copy number gain | See cases [RCV000239962] | Chr15:20733395..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 | copy number gain | See cases [RCV000511328] | Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
NC_000015.10:g.(?_26547773)_(26775295_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV000544795] | Chr15:26547773..26775295 [GRCh38] Chr15:26792920..27020442 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.173-13G>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002064192]|not provided [RCV001698083] | Chr15:26772482 [GRCh38] Chr15:27017629 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.1080+15A>G | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001701808]|Epilepsy, childhood absence, susceptibility to, 1 [RCV002057403]|not specified [RCV000243557] | Chr15:26560917 [GRCh38] Chr15:26806064 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.485T>C (p.Met162Thr) | single nucleotide variant | not provided [RCV000521015] | Chr15:26583391 [GRCh38] Chr15:26828538 [GRCh37] Chr15:15q12 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 | copy number loss | See cases [RCV000240259] | Chr15:22815306..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1005C>T (p.Gly335=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001081214]|Seizure [RCV000716223]|not provided [RCV000458583]|not specified [RCV000251346] | Chr15:26561007 [GRCh38] Chr15:26806154 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 | copy number gain | See cases [RCV000240538] | Chr15:20190548..32386089 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.783G>A (p.Ser261=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000474815]|Seizure [RCV000715852]|not specified [RCV000244480] | Chr15:26567633 [GRCh38] Chr15:26812780 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3 | copy number gain | See cases [RCV000240575] | Chr15:25583931..32418279 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.603C>T (p.Thr201=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000465372]|Seizure [RCV000716422]|not specified [RCV000252702] | Chr15:26580398 [GRCh38] Chr15:26825545 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV000240882] | Chr15:26580456 [GRCh38] Chr15:26825603 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV000240922] | Chr15:26567671 [GRCh38] Chr15:26812818 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV000240945]|Epilepsy, childhood absence, susceptibility to, 1 [RCV002518557]|Neurodevelopmental delay [RCV002274001]|not provided [RCV003322765] | Chr15:26621417 [GRCh38] Chr15:26866564 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV000240948] | Chr15:26561099 [GRCh38] Chr15:26806246 [GRCh37] Chr15:15q12 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 | copy number loss | See cases [RCV000240502] | Chr15:22698522..28406709 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.240+13C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001514890]|not specified [RCV000248323] | Chr15:26772389 [GRCh38] Chr15:27017536 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001781148] | Chr15:26561098 [GRCh38] Chr15:26806245 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000554171]|Epilepsy, childhood absence, susceptibility to, 5 [RCV003224328]|not provided [RCV001707733] | Chr15:26561043 [GRCh38] Chr15:26806190 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.241-20887TA[5] | microsatellite | not provided [RCV000514684] | Chr15:26642413..26642414 [GRCh38] Chr15:26887560..26887561 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.16G>A (p.Gly6Arg) | single nucleotide variant | not provided [RCV003321243] | Chr15:26772947 [GRCh38] Chr15:27018094 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001228909]|not specified [RCV000578758] | Chr15:26580421 [GRCh38] Chr15:26825568 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.1225C>T (p.Arg409Ter) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002529044]|not provided [RCV000578892] | Chr15:26547990 [GRCh38] Chr15:26793137 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.881G>C (p.Arg294Pro) | single nucleotide variant | not provided [RCV000488932] | Chr15:26561131 [GRCh38] Chr15:26806278 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_021912.4(GABRB3):c.-44G>T | single nucleotide variant | not specified [RCV000603491] | Chr15:26773768 [GRCh38] Chr15:27018915 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.169G>C (p.Gly57Arg) | single nucleotide variant | not provided [RCV001092402] | Chr15:26772684 [GRCh38] Chr15:27017831 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.509T>G (p.Leu170Arg) | single nucleotide variant | not provided [RCV000522263] | Chr15:26583367 [GRCh38] Chr15:26828514 [GRCh37] Chr15:15q12 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787) | copy number gain | Autism [RCV000626505] | Chr15:23810397..29213787 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NC_000015.9:g.(?_26792920)_(27020442_?)dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV000559605] | Chr15:26547773..26775295 [GRCh38] Chr15:26792920..27020442 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000540777]|not provided [RCV000416050] | Chr15:26621395 [GRCh38] Chr15:26866542 [GRCh37] Chr15:15q12 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000814.6(GABRB3):c.418A>G (p.Met140Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000555655]|not provided [RCV000992022] | Chr15:26621357 [GRCh38] Chr15:26866504 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe) | single nucleotide variant | not provided [RCV000413814] | Chr15:26561174 [GRCh38] Chr15:26806321 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.682_682+3dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV000525001] | Chr15:26580315..26580316 [GRCh38] Chr15:26825462..26825463 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 | copy number gain | See cases [RCV000449082] | Chr15:22770421..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 | copy number gain | See cases [RCV000449451] | Chr15:22770421..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545355)x1 | copy number loss | See cases [RCV000449342] | Chr15:23620191..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28823722)x1 | copy number loss | See cases [RCV000449387] | Chr15:23615768..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 | copy number gain | See cases [RCV000454142] | Chr15:20071673..30737344 [GRCh37] Chr15:15q11.1-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 | copy number loss | See cases [RCV000449139] | Chr15:24179003..37238599 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28357230)x1 | copy number loss | See cases [RCV000449305] | Chr15:23620191..28357230 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 | copy number loss | See cases [RCV000449486] | Chr15:22770421..28527747 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23300138-29338429)x3 | copy number gain | See cases [RCV000449160] | Chr15:23300138..29338429 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 | copy number loss | See cases [RCV000446327] | Chr15:22770421..28928730 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 | copy number gain | See cases [RCV000447681] | Chr15:22770421..28527747 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28823722)x1 | copy number loss | See cases [RCV000447304] | Chr15:23290862..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 | copy number loss | See cases [RCV000447305] | Chr15:22770421..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28561097)x3 | copy number gain | See cases [RCV000446375] | Chr15:23290862..28561097 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 | copy number gain | See cases [RCV000447111] | Chr15:22770421..28958779 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28545355)x1 | copy number loss | See cases [RCV000446271] | Chr15:23615768..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q12(chr15:26906501-26970177)x1 | copy number loss | See cases [RCV000446246] | Chr15:26906501..26970177 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28545355)x1 | copy number loss | See cases [RCV000447349] | Chr15:23286571..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 | copy number loss | See cases [RCV000447354] | Chr15:22770421..29021034 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 | copy number loss | See cases [RCV000446646] | Chr15:22770421..28828168 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 | copy number gain | See cases [RCV000447598] | Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23487423-28406650)x3 | copy number gain | See cases [RCV000446525] | Chr15:23487423..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x3 | copy number gain | See cases [RCV000447049] | Chr15:23707452..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 | copy number gain | See cases [RCV000446464] | Chr15:22770421..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 | copy number loss | See cases [RCV000446703] | Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) | copy number gain | See cases [RCV000447173] | Chr15:20190548..28406650 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 | copy number loss | See cases [RCV000447451] | Chr15:22770421..28704050 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28527734)x1 | copy number loss | See cases [RCV000446656] | Chr15:23620191..28527734 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561232)x1 | copy number loss | See cases [RCV000447084] | Chr15:23620191..28561232 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.335T>A (p.Val112Glu) | single nucleotide variant | not provided [RCV000434227] | Chr15:26621440 [GRCh38] Chr15:26866587 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.585C>T (p.Gly195=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000862617]|Inborn genetic diseases [RCV002318426]|not specified [RCV000423858] | Chr15:26580416 [GRCh38] Chr15:26825563 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 | copy number loss | See cases [RCV000445857] | Chr15:22770421..31760986 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.836-20C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002059687]|not specified [RCV000418138] | Chr15:26561196 [GRCh38] Chr15:26806343 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.80+11G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002062634]|not provided [RCV001703817] | Chr15:26772872 [GRCh38] Chr15:27018019 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.648C>T (p.His216=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001393462]|not provided [RCV001703846] | Chr15:26580353 [GRCh38] Chr15:26825500 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.682+20A>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002065030]|not provided [RCV000513865]|not specified [RCV000442223] | Chr15:26580299 [GRCh38] Chr15:26825446 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.81T>C (p.Ser27=) | single nucleotide variant | not provided [RCV001698261] | Chr15:26772772 [GRCh38] Chr15:27017919 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001080926]|Inborn genetic diseases [RCV002379350]|not provided [RCV000487529]|not specified [RCV000438799] | Chr15:26547922 [GRCh38] Chr15:26793069 [GRCh37] Chr15:15q12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000814.6(GABRB3):c.154C>T (p.Leu52=) | single nucleotide variant | not specified [RCV000442582] | Chr15:26772699 [GRCh38] Chr15:27017846 [GRCh37] Chr15:15q12 |
likely benign |
NM_021912.4(GABRB3):c.-44G>C | single nucleotide variant | not specified [RCV000418881] | Chr15:26773768 [GRCh38] Chr15:27018915 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.81-11C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002065034]|not specified [RCV000439544] | Chr15:26772783 [GRCh38] Chr15:27017930 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1005C>G (p.Gly335=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646113]|not specified [RCV000439660] | Chr15:26561007 [GRCh38] Chr15:26806154 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.136A>C (p.Lys46Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002524718]|not provided [RCV000428980] | Chr15:26772717 [GRCh38] Chr15:27017864 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1110A>G (p.Thr370=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000526261]|not provided [RCV001704384] | Chr15:26548105 [GRCh38] Chr15:26793252 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 | copy number gain | See cases [RCV000445780] | Chr15:22770421..29069001 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.81-3C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001436678]|not provided [RCV001703668] | Chr15:26772775 [GRCh38] Chr15:27017922 [GRCh37] Chr15:15q12 |
likely benign |
NM_021912.4(GABRB3):c.-42G>C | single nucleotide variant | not specified [RCV000433076] | Chr15:26773766 [GRCh38] Chr15:27018913 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000699220]|Intellectual disability [RCV001260891]|not provided [RCV000431904] | Chr15:26567721 [GRCh38] Chr15:26812868 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_000814.6(GABRB3):c.675C>T (p.Phe225=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001462049]|not provided [RCV000585015] | Chr15:26580326 [GRCh38] Chr15:26825473 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 | copy number loss | See cases [RCV000445807] | Chr15:23282829..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.183C>G (p.Val61=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000702756]|not specified [RCV000430467] | Chr15:26772459 [GRCh38] Chr15:27017606 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.-23C>G | single nucleotide variant | not specified [RCV000433827] | Chr15:26772985 [GRCh38] Chr15:27018132 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 | copy number gain | See cases [RCV000445711] | Chr15:20733395..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_021912.5(GABRB3):c.75C>T (p.Pro25=) | single nucleotide variant | Inborn genetic diseases [RCV002311447]|not provided [RCV000711726]|not specified [RCV000423431] | Chr15:26773650 [GRCh38] Chr15:27018797 [GRCh37] Chr15:15q12 |
benign |
NM_021912.5(GABRB3):c.80+10G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001522765]|not specified [RCV000430780] | Chr15:26773635 [GRCh38] Chr15:27018782 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.753T>C (p.Tyr251=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000865908]|not provided [RCV003392252]|not specified [RCV000433987] | Chr15:26567663 [GRCh38] Chr15:26812810 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1158C>T (p.Gly386=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000861384]|not provided [RCV001720156] | Chr15:26548057 [GRCh38] Chr15:26793204 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.1104G>C (p.Leu368=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001398929]|not specified [RCV000441184] | Chr15:26548111 [GRCh38] Chr15:26793258 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 | copy number gain | See cases [RCV000448114] | Chr15:22770421..31073669 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 | copy number gain | See cases [RCV000447765] | Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002521496]|Epileptic encephalopathy [RCV000416942] | Chr15:26567655 [GRCh38] Chr15:26812802 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) | single nucleotide variant | Epileptic encephalopathy [RCV000416972] | Chr15:26621403 [GRCh38] Chr15:26866550 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 | copy number loss | See cases [RCV000448156] | Chr15:22770421..28534458 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 | copy number loss | See cases [RCV000448168] | Chr15:22815306..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x3 | copy number gain | See cases [RCV000448177] | Chr15:23288374..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 | copy number gain | See cases [RCV000447775] | Chr15:22770421..33707835 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 | copy number loss | See cases [RCV000448196] | Chr15:22770421..28709715 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 | copy number loss | See cases [RCV000447934] | Chr15:22770421..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 | copy number gain | See cases [RCV000448060] | Chr15:22770421..28660038 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28534245)x3 | copy number gain | See cases [RCV000448566] | Chr15:23290862..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)x1 | copy number loss | See cases [RCV000448654] | Chr15:23620191..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 | copy number gain | See cases [RCV000448210] | Chr15:20190548..32917801 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545459)x1 | copy number loss | See cases [RCV000448755] | Chr15:23290786..28545459 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 | copy number loss | See cases [RCV000448076] | Chr15:22698522..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 | copy number loss | See cases [RCV000448602] | Chr15:22770421..28419123 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28437018)x1 | copy number loss | See cases [RCV000448456] | Chr15:23620191..28437018 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23707452-28406650)x1 | copy number loss | See cases [RCV000448093] | Chr15:23707452..28406650 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 | copy number gain | See cases [RCV000448096] | Chr15:22770421..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 | copy number gain | See cases [RCV000448389] | Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000458912]|Epilepsy, childhood absence, susceptibility to, 5 [RCV003224288]|not provided [RCV001643172] | Chr15:26547946 [GRCh38] Chr15:26793093 [GRCh37] Chr15:15q12 |
benign|likely benign|uncertain significance |
NM_000814.6(GABRB3):c.683-7C>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000473990]|not provided [RCV001696876] | Chr15:26567740 [GRCh38] Chr15:26812887 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000474078] | Chr15:26583372 [GRCh38] Chr15:26828519 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_021912.5(GABRB3):c.21G>A (p.Glu7=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000457500] | Chr15:26773704 [GRCh38] Chr15:27018851 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.487A>G (p.Met163Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000461344]|Inborn genetic diseases [RCV000624061] | Chr15:26583389 [GRCh38] Chr15:26828536 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000822033]|not provided [RCV000478028] | Chr15:26772403 [GRCh38] Chr15:27017550 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.217G>C (p.Asp73His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000465465] | Chr15:26772425 [GRCh38] Chr15:27017572 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001004658]|not provided [RCV000486184] | Chr15:26567658 [GRCh38] Chr15:26812805 [GRCh37] Chr15:15q12 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28540415)x1 | copy number loss | See cases [RCV000510622] | Chr15:23615768..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 | copy number gain | See cases [RCV000510717] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 | copy number gain | See cases [RCV000510367] | Chr15:22770421..28526410 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 | copy number gain | See cases [RCV000510386] | Chr15:22770421..31122895 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 | copy number gain | See cases [RCV000510251] | Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 | copy number loss | See cases [RCV000510397] | Chr15:22770421..28415107 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23625784-28540345)x1 | copy number loss | See cases [RCV000510211] | Chr15:23625784..28540345 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 | copy number gain | See cases [RCV000510224] | Chr15:22770421..29214721 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561671)x1 | copy number loss | See cases [RCV000510689] | Chr15:23615769..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28561097)x3 | copy number gain | See cases [RCV000510296] | Chr15:23615769..28561097 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 | copy number loss | See cases [RCV000510693] | Chr15:22770421..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 5 [RCV000503999] | Chr15:26567650 [GRCh38] Chr15:26812797 [GRCh37] Chr15:15q12 |
likely pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) | copy number gain | See cases [RCV000512019] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile) | single nucleotide variant | not provided [RCV000494267] | Chr15:26580447 [GRCh38] Chr15:26825594 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 | copy number loss | See cases [RCV000511670] | Chr15:22770421..28660038 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q12(chr15:26213602-27266045)x1 | copy number loss | See cases [RCV000511623] | Chr15:26213602..27266045 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q12(chr15:26179690-26934492)x3 | copy number gain | See cases [RCV000511548] | Chr15:26179690..26934492 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28545601)x1 | copy number loss | See cases [RCV000511767] | Chr15:23290786..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28534245)x3 | copy number gain | See cases [RCV000511592] | Chr15:23615768..28534245 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534359)x1 | copy number loss | See cases [RCV000511600] | Chr15:23620191..28534359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28953483)x3 | copy number gain | See cases [RCV000511850] | Chr15:23615769..28953483 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28539975)x1 | copy number loss | See cases [RCV000510883] | Chr15:23620191..28539975 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x1 | copy number loss | See cases [RCV000511196] | Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28561671)x1 | copy number loss | See cases [RCV000510894] | Chr15:23620191..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28958779)x3 | copy number gain | See cases [RCV000510929] | Chr15:23620191..28958779 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 | copy number gain | See cases [RCV000510901] | Chr15:22770421..30369944 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28534245)x3 | copy number gain | See cases [RCV000510737] | Chr15:23620191..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 | copy number loss | See cases [RCV000511178] | Chr15:22770421..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28958779)x3 | copy number gain | See cases [RCV000511275] | Chr15:23290862..28958779 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
NM_000814.6(GABRB3):c.1058G>A (p.Arg353His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000538045]|Inborn genetic diseases [RCV002404496] | Chr15:26560954 [GRCh38] Chr15:26806101 [GRCh37] Chr15:15q12 |
benign|likely benign|uncertain significance |
NM_000814.6(GABRB3):c.357C>T (p.Pro119=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000870925]|not specified [RCV000602947] | Chr15:26621418 [GRCh38] Chr15:26866565 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646102] | Chr15:26561102 [GRCh38] Chr15:26806249 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646103] | Chr15:26583370 [GRCh38] Chr15:26828517 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1057C>T (p.Arg353Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646105] | Chr15:26560955 [GRCh38] Chr15:26806102 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.417C>T (p.Arg139=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646106] | Chr15:26621358 [GRCh38] Chr15:26866505 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646107] | Chr15:26567704 [GRCh38] Chr15:26812851 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003133441]|Epilepsy, childhood absence, susceptibility to, 1 [RCV000646108]|Epilepsy, childhood absence, susceptibility to, 5 [RCV000763953] | Chr15:26621483 [GRCh38] Chr15:26866630 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.894C>T (p.Pro298=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001422804] | Chr15:26561118 [GRCh38] Chr15:26806265 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-8C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646112] | Chr15:26621542 [GRCh38] Chr15:26866689 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.10:g.(?_26567561)_(26629023_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646117] | Chr15:26567561..26629023 [GRCh38] Chr15:26812708..26874170 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.321G>T (p.Thr107=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003117406]|not specified [RCV000606803] | Chr15:26621454 [GRCh38] Chr15:26866601 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.300T>C (p.Ser100=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646116]|not specified [RCV000607129] | Chr15:26621475 [GRCh38] Chr15:26866622 [GRCh37] Chr15:15q12 |
likely benign |
NM_021912.5(GABRB3):c.80+18C>T | single nucleotide variant | not specified [RCV000614937] | Chr15:26773627 [GRCh38] Chr15:27018774 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.80+4G>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001860299]|Inborn genetic diseases [RCV002420620]|not provided [RCV001697971] | Chr15:26772879 [GRCh38] Chr15:27018026 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) | single nucleotide variant | Inborn genetic diseases [RCV000624329] | Chr15:26561149 [GRCh38] Chr15:26806296 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_000814.6(GABRB3):c.1338T>C (p.Asn446=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646110]|Seizure [RCV000720844]|not provided [RCV001698088] | Chr15:26547877 [GRCh38] Chr15:26793024 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1113G>A (p.Ser371=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000866678]|Seizure [RCV000720700]|not specified [RCV000601997] | Chr15:26548102 [GRCh38] Chr15:26793249 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.835+8C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646115]|not specified [RCV000614468] | Chr15:26567573 [GRCh38] Chr15:26812720 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.87C>T (p.Asn29=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002060336] | Chr15:26772766 [GRCh38] Chr15:27017913 [GRCh37] Chr15:15q12 |
likely benign |
NM_021912.5(GABRB3):c.80+19G>A | single nucleotide variant | not specified [RCV000603817] | Chr15:26773626 [GRCh38] Chr15:27018773 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1068C>T (p.Ser356=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646111] | Chr15:26560944 [GRCh38] Chr15:26806091 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646114]|Inborn genetic diseases [RCV002343320]|not provided [RCV001560496] | Chr15:26548011 [GRCh38] Chr15:26793158 [GRCh37] Chr15:15q12 |
benign|likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28163991)x1 | copy number loss | See cases [RCV000512394] | Chr15:23615769..28163991 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 | copy number gain | See cases [RCV000512182] | Chr15:22770421..28561670 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28709715)x1 | copy number loss | See cases [RCV000512355] | Chr15:23620191..28709715 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28540415)x1 | copy number loss | See cases [RCV000512547] | Chr15:23286571..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 | copy number gain | See cases [RCV000512432] | Chr15:22770421..29009042 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1247T>C (p.Leu416Pro) | single nucleotide variant | Inborn genetic diseases [RCV000623967] | Chr15:26547968 [GRCh38] Chr15:26793115 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646101] | Chr15:26561017 [GRCh38] Chr15:26806164 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000646104] | Chr15:26560991 [GRCh38] Chr15:26806138 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000697686] | Chr15:26621479 [GRCh38] Chr15:26866626 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.346C>G (p.Leu116Val) | single nucleotide variant | not provided [RCV000658707] | Chr15:26621429 [GRCh38] Chr15:26866576 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV000677391]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001308777] | Chr15:26772403 [GRCh38] Chr15:27017550 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 | copy number gain | not provided [RCV000683630] | Chr15:22770421..28376934 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 | copy number gain | not provided [RCV000683631] | Chr15:22770421..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 | copy number loss | not provided [RCV000683634] | Chr15:22770421..29069001 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 | copy number gain | not provided [RCV000683636] | Chr15:22770421..31073668 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 | copy number gain | not provided [RCV000683639] | Chr15:22770421..33098520 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 | copy number loss | not provided [RCV000683635] | Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x3 | copy number gain | not provided [RCV000683645] | Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)x1 | copy number loss | not provided [RCV000683646] | Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23286571-28823722)x1 | copy number loss | not provided [RCV000683641] | Chr15:23286571..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28540415)x3 | copy number gain | not provided [RCV000683647] | Chr15:23620191..28540415 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 | copy number loss | not provided [RCV000683633] | Chr15:22770421..28823722 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 | copy number gain | not provided [RCV000683638] | Chr15:22770421..32439524 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28705281)x1 | copy number loss | not provided [RCV000683642] | Chr15:23288374..28705281 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-29062203)x1 | copy number loss | not provided [RCV000683643] | Chr15:23288374..29062203 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 | copy number gain | not provided [RCV000683637] | Chr15:22770421..32421780 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28723454)x3 | copy number gain | not provided [RCV000683649] | Chr15:23632677..28723454 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 | copy number gain | not provided [RCV000683632] | Chr15:22770421..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22876919-28561671)x1 | copy number loss | not provided [RCV000683640] | Chr15:22876919..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23290786-28560269)x1 | copy number loss | not provided [RCV000683644] | Chr15:23290786..28560269 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23632677-28534458)x3 | copy number gain | not provided [RCV000683648] | Chr15:23632677..28534458 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23637603-28644578)x1 | copy number loss | not provided [RCV000683650] | Chr15:23637603..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000687292] | Chr15:26560973 [GRCh38] Chr15:26806120 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1148G>A (p.Gly383Asp) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000702509] | Chr15:26548067 [GRCh38] Chr15:26793214 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001228195]|Inborn genetic diseases [RCV002314527]|not provided [RCV001585671] | Chr15:26548088 [GRCh38] Chr15:26793235 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NC_000015.9:g.(?_26792920)_(27018162_?)dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV000707838] | Chr15:26547773..26773015 [GRCh38] Chr15:26792920..27018162 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.640G>A (p.Val214Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000705340]|Inborn genetic diseases [RCV002360825] | Chr15:26580361 [GRCh38] Chr15:26825508 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000706288] | Chr15:26561117 [GRCh38] Chr15:26806264 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000692376]|Epilepsy, childhood absence, susceptibility to, 5 [RCV000763952]|not provided [RCV001545866] | Chr15:26580444 [GRCh38] Chr15:26825591 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000693650] | Chr15:26567715 [GRCh38] Chr15:26812862 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.835+5G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000685082]|not provided [RCV001756150] | Chr15:26567576 [GRCh38] Chr15:26812723 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.758C>A (p.Pro253His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000706365] | Chr15:26567658 [GRCh38] Chr15:26812805 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.1097A>G (p.Asn366Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001862042]|Inborn genetic diseases [RCV002313670] | Chr15:26548118 [GRCh38] Chr15:26793265 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.683-7C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003104233] | Chr15:26567740 [GRCh38] Chr15:26812887 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.10:g.26774068C>T | single nucleotide variant | not provided [RCV001567907] | Chr15:26774068 [GRCh38] Chr15:27019215 [GRCh37] Chr15:15q12 |
likely benign |
Single allele | duplication | Schizophrenia [RCV000754156] | Chr15:23319712..28684313 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 | copy number loss | not provided [RCV000738652] | Chr15:22652330..29050198 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28532120)x1 | copy number loss | not provided [RCV000738660] | Chr15:23672782..28532120 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23672782-28544359)x1 | copy number loss | not provided [RCV000738661] | Chr15:23672782..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23693406-29085893)x3 | copy number gain | not provided [RCV000738662] | Chr15:23693406..29085893 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | duplication | Autism [RCV000754147] | Chr15:22420897..32130343 [GRCh38] Chr15:15q11.2-13.3 |
pathogenic |
Single allele | duplication | Autism [RCV000754157] | Chr15:23319712..28800324 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 | copy number gain | not provided [RCV000754760] | Chr15:20102541..28535051 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
Single allele | duplication | Schizophrenia [RCV000754155] | Chr15:23157975..28774125 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 | copy number loss | not provided [RCV000751176] | Chr15:22750305..28535266 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 | copy number gain | not provided [RCV000751178] | Chr15:22835967..30371774 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23109890-29085893)x3 | copy number gain | not provided [RCV000751181] | Chr15:23109890..29085893 [GRCh37] Chr15:15q11.2-13.1 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28506450)x3 | copy number gain | not provided [RCV000751185] | Chr15:23656946..28506450 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28535266)x3 | copy number gain | not provided [RCV000751186] | Chr15:23656946..28535266 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x3 | copy number gain | not provided [RCV000751187] | Chr15:23656946..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23656946-28544359)x1 | copy number loss | not provided [RCV000751188] | Chr15:23656946..28544359 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q12(chr15:26847624-26855799)x0 | copy number loss | not provided [RCV000751215] | Chr15:26847624..26855799 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q12(chr15:26848316-26855799)x3 | copy number gain | not provided [RCV000751216] | Chr15:26848316..26855799 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q12(chr15:26954923-26962268)x0 | copy number loss | not provided [RCV000751217] | Chr15:26954923..26962268 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q12(chr15:26954923-26962334)x1 | copy number loss | not provided [RCV000751218] | Chr15:26954923..26962334 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q12(chr15:26962116-26965013)x1 | copy number loss | not provided [RCV000751219] | Chr15:26962116..26965013 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_021912.5(GABRB3):c.51C>G (p.Thr17=) | single nucleotide variant | not provided [RCV001666852] | Chr15:26773674 [GRCh38] Chr15:27018821 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.885G>A (p.Glu295=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001479971] | Chr15:26561127 [GRCh38] Chr15:26806274 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.771A>G (p.Ile257Met) | single nucleotide variant | not provided [RCV001586225] | Chr15:26567645 [GRCh38] Chr15:26812792 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.898A>C (p.Ile300Leu) | single nucleotide variant | not provided [RCV000761900] | Chr15:26561114 [GRCh38] Chr15:26806261 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.566T>C (p.Ile189Thr) | single nucleotide variant | not provided [RCV003312297] | Chr15:26580435 [GRCh38] Chr15:26825582 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1081-31_1081-28del | deletion | not provided [RCV001568475] | Chr15:26548162..26548165 [GRCh38] Chr15:26793309..26793312 [GRCh37] Chr15:15q12 |
likely benign |
Single allele | complex | Esophageal atresia [RCV000986105] | Chr15:22676913..30137106 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) | copy number loss | Angelman syndrome [RCV000767840] | Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.348A>G (p.Leu116=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001034212]|Inborn genetic diseases [RCV002454259] | Chr15:26621427 [GRCh38] Chr15:26866574 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.147C>G (p.Asp49Glu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001034785] | Chr15:26772706 [GRCh38] Chr15:27017853 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001038676] | Chr15:26561110 [GRCh38] Chr15:26806257 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003147577]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001040961]|not provided [RCV001311380] | Chr15:26561107 [GRCh38] Chr15:26806254 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001061473] | Chr15:26583409 [GRCh38] Chr15:26828556 [GRCh37] Chr15:15q12 |
likely pathogenic |
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) | copy number gain | 15q11q13 microduplication syndrome [RCV000767717] | Chr15:20190548..30300265 [GRCh37] Chr15:15q11.1-13.2 |
pathogenic |
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) | copy number gain | 15q11q13 microduplication syndrome [RCV000767718] | Chr15:20191652..28525310 [GRCh37] Chr15:15q11.1-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001089722] | Chr15:26567683 [GRCh38] Chr15:26812830 [GRCh37] Chr15:15q12 |
likely pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) | copy number gain | 15q11q13 microduplication syndrome [RCV000767722] | Chr15:22383299..32917689 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) | copy number gain | 15q11q13 microduplication syndrome [RCV000767723] | Chr15:22770994..28517432 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) | copy number gain | 15q11q13 microduplication syndrome [RCV000767720] | Chr15:22382860..32396457 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) | copy number loss | Angelman syndrome [RCV000767721] | Chr15:22770994..29050198 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) | copy number gain | 15q11q13 microduplication syndrome [RCV000767841] | Chr15:22816713..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671) | copy number loss | Angelman syndrome [RCV000767724] | Chr15:23615768..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505) | copy number gain | 15q11q13 microduplication syndrome [RCV000767754] | Chr15:23810397..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.231A>G (p.Glu77=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000868630] | Chr15:26772411 [GRCh38] Chr15:27017558 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.942C>T (p.Phe314=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000866358] | Chr15:26561070 [GRCh38] Chr15:26806217 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1059T>C (p.Arg353=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001497617] | Chr15:26560953 [GRCh38] Chr15:26806100 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.240+8C>T | single nucleotide variant | not provided [RCV000867985] | Chr15:26772394 [GRCh38] Chr15:27017541 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.173-9T>C | single nucleotide variant | not provided [RCV000923304] | Chr15:26772478 [GRCh38] Chr15:27017625 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.207C>A (p.Ile69=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001405153] | Chr15:26772435 [GRCh38] Chr15:27017582 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000863526]|not provided [RCV002225754] | Chr15:26547873 [GRCh38] Chr15:26793020 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.405A>G (p.Thr135=) | single nucleotide variant | Inborn genetic diseases [RCV002320103]|not provided [RCV000927375] | Chr15:26621370 [GRCh38] Chr15:26866517 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) | copy number loss | Angelman syndrome [RCV000767719] | Chr15:20848750..32925141 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182) | copy number loss | Angelman syndrome [RCV000767725] | Chr15:23683783..28530182 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505) | copy number loss | Prader-Willi syndrome [RCV000767726] | Chr15:23810184..28525505 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896) | copy number gain | 15q11q13 microduplication syndrome [RCV000767753] | Chr15:23810184..29213896 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.683-257G>A | single nucleotide variant | not provided [RCV000827755] | Chr15:26567990 [GRCh38] Chr15:26813137 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.836-336C>T | single nucleotide variant | not provided [RCV000827756] | Chr15:26561512 [GRCh38] Chr15:26806659 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.81-4C>T | single nucleotide variant | not provided [RCV000841385] | Chr15:26772776 [GRCh38] Chr15:27017923 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.321G>A (p.Thr107=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001428639]|not provided [RCV000828039] | Chr15:26621454 [GRCh38] Chr15:26866601 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000793583] | Chr15:26621347 [GRCh38] Chr15:26866494 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.545A>G (p.Tyr182Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000821184] | Chr15:26580456 [GRCh38] Chr15:26825603 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.184T>G (p.Cys62Gly) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000823421] | Chr15:26772458 [GRCh38] Chr15:27017605 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.5(GABRB3):c.2T>C (p.Met1Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000804859]|Inborn genetic diseases [RCV002440708] | Chr15:26773723 [GRCh38] Chr15:27018870 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.461+147_461+148dup | duplication | not provided [RCV000840044] | Chr15:26621165..26621166 [GRCh38] Chr15:26866312..26866313 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.682+287T>C | single nucleotide variant | not provided [RCV000842796] | Chr15:26580032 [GRCh38] Chr15:26825179 [GRCh37] Chr15:15q12 |
benign |
Single allele | duplication | 15q11q13 microduplication syndrome [RCV000825026] | Chr15:23810928..28544664 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV002272365]|Epilepsy, childhood absence, susceptibility to, 1 [RCV000808709] | Chr15:26560960 [GRCh38] Chr15:26806107 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.835+153C>T | single nucleotide variant | not provided [RCV000836893] | Chr15:26567428 [GRCh38] Chr15:26812575 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.835+194C>T | single nucleotide variant | not provided [RCV000836895] | Chr15:26567387 [GRCh38] Chr15:26812534 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000808358] | Chr15:26548062 [GRCh38] Chr15:26793209 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.9:g.(?_27017808)_(27020442_?)dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV000810000] | Chr15:26772661..26775295 [GRCh38] Chr15:27017808..27020442 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.558G>A (p.Thr186=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001465348] | Chr15:26580443 [GRCh38] Chr15:26825590 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.240+296C>A | single nucleotide variant | not provided [RCV000827749] | Chr15:26772106 [GRCh38] Chr15:27017253 [GRCh37] Chr15:15q12 |
benign |
Single allele | deletion | Neurodevelopmental disorder [RCV000787376] | Chr15:23699983..28436313 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.5(GABRB3):c.-828C>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001514891]|not provided [RCV000841683] | Chr15:26773790 [GRCh38] Chr15:27018937 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.241-7247G>A | single nucleotide variant | not provided [RCV000841775] | Chr15:26628781 [GRCh38] Chr15:26873928 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 | copy number gain | not provided [RCV000846014] | Chr15:20179527..32998070 [GRCh37] Chr15:15q11.1-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.241-57G>A | single nucleotide variant | not provided [RCV000840040] | Chr15:26621591 [GRCh38] Chr15:26866738 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.461+195_461+196insT | insertion | not provided [RCV000840041] | Chr15:26621118..26621119 [GRCh38] Chr15:26866265..26866266 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.462-90C>T | single nucleotide variant | not provided [RCV000840043] | Chr15:26583504 [GRCh38] Chr15:26828651 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.1080+306G>A | single nucleotide variant | not provided [RCV000833486] | Chr15:26560626 [GRCh38] Chr15:26805773 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.461+232TA[2] | microsatellite | not provided [RCV000840042] | Chr15:26621077..26621078 [GRCh38] Chr15:26866224..26866225 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.241-7844G>A | single nucleotide variant | not provided [RCV000828471] | Chr15:26629378 [GRCh38] Chr15:26874525 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 | copy number gain | not provided [RCV001006662] | Chr15:22770421..30386553 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 | copy number gain | not provided [RCV001006663] | Chr15:22770421..32915089 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.241-7714A>G | single nucleotide variant | not provided [RCV000840033] | Chr15:26629248 [GRCh38] Chr15:26874395 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.39C>T (p.Phe13=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001426863]|not provided [RCV000840699] | Chr15:26772924 [GRCh38] Chr15:27018071 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.600T>C (p.Val200=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001414470] | Chr15:26580401 [GRCh38] Chr15:26825548 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003152736]|Epilepsy, childhood absence, susceptibility to, 1 [RCV000808724] | Chr15:26621444 [GRCh38] Chr15:26866591 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.180G>A (p.Pro60=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001416271] | Chr15:26772462 [GRCh38] Chr15:27017609 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1266G>A (p.Pro422=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002068597]|not provided [RCV000841638] | Chr15:26547949 [GRCh38] Chr15:26793096 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001241755]|not provided [RCV000835461] | Chr15:26547974 [GRCh38] Chr15:26793121 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.1257A>G (p.Arg419=) | single nucleotide variant | not provided [RCV000916032] | Chr15:26547958 [GRCh38] Chr15:26793105 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.544+3G>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001873454]|not provided [RCV001092401] | Chr15:26583329 [GRCh38] Chr15:26828476 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q12(chr15:26827140-27307225)x3 | copy number gain | not provided [RCV000849634] | Chr15:26827140..27307225 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 | copy number loss | not provided [RCV001006665] | Chr15:23213406..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.847G>A (p.Val283Met) | single nucleotide variant | Global developmental delay [RCV000850292] | Chr15:26561165 [GRCh38] Chr15:26806312 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.5(GABRB3):c.44C>G (p.Ser15Cys) | single nucleotide variant | not provided [RCV000992023] | Chr15:26773681 [GRCh38] Chr15:27018828 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.553A>C (p.Thr185Pro) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001217381] | Chr15:26580448 [GRCh38] Chr15:26825595 [GRCh37] Chr15:15q12 |
uncertain significance |
Single allele | deletion | Angelman syndrome [RCV001250751] | Chr15:23579300..28447626 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | deletion | Angelman syndrome [RCV001250750] | Chr15:22833416..28566671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | deletion | Angelman syndrome [RCV001250749] | Chr15:22646692..28964445 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1054del (p.Asp352fs) | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001213945] | Chr15:26560958 [GRCh38] Chr15:26806105 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002549904]|not provided [RCV000995277] | Chr15:26561150 [GRCh38] Chr15:26806297 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.860C>A (p.Thr287Lys) | single nucleotide variant | not provided [RCV000995278] | Chr15:26561152 [GRCh38] Chr15:26806299 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.396T>C (p.His132=) | single nucleotide variant | not provided [RCV000995279] | Chr15:26621379 [GRCh38] Chr15:26866526 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.183C>T (p.Val61=) | single nucleotide variant | not provided [RCV000995280] | Chr15:26772459 [GRCh38] Chr15:27017606 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001249409] | Chr15:26561084 [GRCh38] Chr15:26806231 [GRCh37] Chr15:15q12 |
not provided |
NM_000814.6(GABRB3):c.782_783delinsTA (p.Ser261Leu) | indel | Epilepsy, childhood absence, susceptibility to, 1 [RCV001245199] | Chr15:26567633..26567634 [GRCh38] Chr15:26812780..26812781 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.534A>T (p.Glu178Asp) | single nucleotide variant | not provided [RCV003312298] | Chr15:26583342 [GRCh38] Chr15:26828489 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.242A>T (p.Asp81Val) | single nucleotide variant | not provided [RCV003313588] | Chr15:26621533 [GRCh38] Chr15:26866680 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001219964]|Inborn genetic diseases [RCV001266393] | Chr15:26567659 [GRCh38] Chr15:26812806 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_000814.6(GABRB3):c.1167G>T (p.Arg389Ser) | single nucleotide variant | not provided [RCV001200097] | Chr15:26548048 [GRCh38] Chr15:26793195 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.173-2A>T | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001249643] | Chr15:26772471 [GRCh38] Chr15:27017618 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.544+14T>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003104948] | Chr15:26583318 [GRCh38] Chr15:26828465 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.9:g.(?_26792940)_(26793301_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV003105340] | Chr15:26792940..26793301 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.9:g.(?_26792940)_(26866701_?)dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV003105341] | Chr15:26792940..26866701 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.241-7147dup | duplication | not provided [RCV001551764] | Chr15:26628673..26628674 [GRCh38] Chr15:26873820..26873821 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.-99GGC[6] | microsatellite | not provided [RCV001680789] | Chr15:26773041..26773043 [GRCh38] Chr15:27018188..27018190 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.240+55604T>C | single nucleotide variant | not provided [RCV001722897] | Chr15:26716798 [GRCh38] Chr15:26961945 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.240+55573T>C | single nucleotide variant | not provided [RCV001598571] | Chr15:26716829 [GRCh38] Chr15:26961976 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.10:g.26773893C>A | single nucleotide variant | not provided [RCV001636488] | Chr15:26773893 [GRCh38] Chr15:27019040 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.241-7183_241-7180del | deletion | not provided [RCV001667002] | Chr15:26628714..26628717 [GRCh38] Chr15:26873861..26873864 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.240+55623T>G | single nucleotide variant | not provided [RCV001717596] | Chr15:26716779 [GRCh38] Chr15:26961926 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.329A>G (p.Asn110Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001865984]|Inborn genetic diseases [RCV002458528]|not provided [RCV001562969] | Chr15:26621446 [GRCh38] Chr15:26866593 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.400G>A (p.Val134Met) | single nucleotide variant | not provided [RCV001563025] | Chr15:26621375 [GRCh38] Chr15:26866522 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001859399]|not provided [RCV001563187] | Chr15:26548065 [GRCh38] Chr15:26793212 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.240+55620A>G | single nucleotide variant | not provided [RCV001548443] | Chr15:26716782 [GRCh38] Chr15:26961929 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.545-90G>A | single nucleotide variant | not provided [RCV001643807] | Chr15:26580546 [GRCh38] Chr15:26825693 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.241-7147_241-7146dup | duplication | not provided [RCV001676898] | Chr15:26628673..26628674 [GRCh38] Chr15:26873820..26873821 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.36C>T (p.Ile12=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV000930690] | Chr15:26772927 [GRCh38] Chr15:27018074 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-7C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001467663] | Chr15:26621541 [GRCh38] Chr15:26866688 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1069G>A (p.Glu357Lys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001451093] | Chr15:26560943 [GRCh38] Chr15:26806090 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 | copy number loss | not provided [RCV001006664] | Chr15:22770421..36861479 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
NM_000814.6(GABRB3):c.461+15T>G | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001196571] | Chr15:26621299 [GRCh38] Chr15:26866446 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.713G>A (p.Arg238Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001202648] | Chr15:26567703 [GRCh38] Chr15:26812850 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001212189] | Chr15:26621370 [GRCh38] Chr15:26866517 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.544+10C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001415351] | Chr15:26583322 [GRCh38] Chr15:26828469 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.836-10T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001454250] | Chr15:26561186 [GRCh38] Chr15:26806333 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-7164GTTTTTTT[2] | microsatellite | not provided [RCV001556552] | Chr15:26628675..26628682 [GRCh38] Chr15:26873822..26873829 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.809A>G (p.Asp270Gly) | single nucleotide variant | not provided [RCV001570576] | Chr15:26567607 [GRCh38] Chr15:26812754 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.461+140dup | duplication | not provided [RCV001717507] | Chr15:26621165..26621166 [GRCh38] Chr15:26866312..26866313 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.836-70A>G | single nucleotide variant | not provided [RCV001717592] | Chr15:26561246 [GRCh38] Chr15:26806393 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) | copy number gain | 15q11q13 microduplication syndrome [RCV003236743] | Chr15:23684691..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.241-56G>A | single nucleotide variant | not provided [RCV001559970] | Chr15:26621590 [GRCh38] Chr15:26866737 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.347T>G (p.Leu116Arg) | single nucleotide variant | not provided [RCV003237097] | Chr15:26621428 [GRCh38] Chr15:26866575 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.544+161_544+162del | deletion | not provided [RCV001546296] | Chr15:26583170..26583171 [GRCh38] Chr15:26828317..26828318 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.544+88A>G | single nucleotide variant | not provided [RCV001560706] | Chr15:26583244 [GRCh38] Chr15:26828391 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.240+55591T>A | single nucleotide variant | not provided [RCV001723147] | Chr15:26716811 [GRCh38] Chr15:26961958 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.240+55589G>A | single nucleotide variant | not provided [RCV001722899] | Chr15:26716813 [GRCh38] Chr15:26961960 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.240+55526G>C | single nucleotide variant | not provided [RCV001717508] | Chr15:26716876 [GRCh38] Chr15:26962023 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1 | copy number loss | not provided [RCV001537909] | Chr15:23616095..28538904 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.851T>G (p.Leu284Arg) | single nucleotide variant | Epileptic encephalopathy [RCV001003982] | Chr15:26561161 [GRCh38] Chr15:26806308 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.683-4A>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001034391] | Chr15:26567737 [GRCh38] Chr15:26812884 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.682+102C>T | single nucleotide variant | not provided [RCV001616309] | Chr15:26580217 [GRCh38] Chr15:26825364 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.241-7715C>T | single nucleotide variant | not provided [RCV001615615] | Chr15:26629249 [GRCh38] Chr15:26874396 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001004669]|Epilepsy, childhood absence, susceptibility to, 5 [RCV002249619]|Intellectual disability [RCV001260774] | Chr15:26567722 [GRCh38] Chr15:26812869 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.240G>C (p.Met80Ile) | single nucleotide variant | not provided [RCV001590137] | Chr15:26772402 [GRCh38] Chr15:27017549 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001216219] | Chr15:26561095 [GRCh38] Chr15:26806242 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.55G>C (p.Val19Leu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001035649] | Chr15:26772908 [GRCh38] Chr15:27018055 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.985T>C (p.Tyr329His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001227463] | Chr15:26561027 [GRCh38] Chr15:26806174 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1240C>T (p.Arg414Ter) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001052737] | Chr15:26547975 [GRCh38] Chr15:26793122 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.87C>G (p.Asn29Lys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001203891] | Chr15:26772766 [GRCh38] Chr15:27017913 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.172+1del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001244882] | Chr15:26772680 [GRCh38] Chr15:27017827 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.479C>T (p.Ala160Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001208155] | Chr15:26583397 [GRCh38] Chr15:26828544 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.10:g.(?_26547773)_(26583434_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001033865] | Chr15:26792920..26828581 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.1250G>A (p.Gly417Glu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001042039] | Chr15:26547965 [GRCh38] Chr15:26793112 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001043550]|Inborn genetic diseases [RCV002552527] | Chr15:26580412 [GRCh38] Chr15:26825559 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1 | copy number loss | not provided [RCV001006666] | Chr15:23288374..27706996 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:24740574-28659911)x1 | copy number loss | not provided [RCV001007484] | Chr15:24740574..28659911 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.73G>T (p.Ala25Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001209401]|not provided [RCV003233995] | Chr15:26772890 [GRCh38] Chr15:27018037 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.167T>C (p.Phe56Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001231649] | Chr15:26772686 [GRCh38] Chr15:27017833 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.10:g.(?_25862297)_(26937328_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001033791] | Chr15:26107444..27182475 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001264748] | Chr15:26580371 [GRCh38] Chr15:26825518 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001253046] | Chr15:26567649 [GRCh38] Chr15:26812796 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 5 [RCV001251774]|Neurodevelopmental delay [RCV002274159] | Chr15:26561111 [GRCh38] Chr15:26806258 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_021912.5(GABRB3):c.11G>T (p.Gly4Val) | single nucleotide variant | Seizure [RCV001255111] | Chr15:26773714 [GRCh38] Chr15:27018861 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001907646] | Chr15:26561089 [GRCh38] Chr15:26806236 [GRCh37] Chr15:15q12 |
pathogenic |
GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4 | copy number gain | not provided [RCV001310299] | Chr15:22833525..27193380 [GRCh37] Chr15:15q11.2-12 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) | copy number loss | Prader-Willi syndrome [RCV002280643] | Chr15:22770421..28635058 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.343C>T (p.Gln115Ter) | single nucleotide variant | Intellectual disability [RCV001260772] | Chr15:26621432 [GRCh38] Chr15:26866579 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.835+5G>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001349086] | Chr15:26567576 [GRCh38] Chr15:26812723 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.674T>G (p.Phe225Cys) | single nucleotide variant | Intellectual disability [RCV001260773] | Chr15:26580327 [GRCh38] Chr15:26825474 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001262965]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001880050] | Chr15:26560979 [GRCh38] Chr15:26806126 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) | copy number loss | Angelman syndrome [RCV002280760] | Chr15:22770421..29855014 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.-99GGC[5] | microsatellite | not provided [RCV001548694] | Chr15:26773041..26773046 [GRCh38] Chr15:27018188..27018193 [GRCh37] Chr15:15q12 |
likely benign |
Single allele | duplication | 15q11q13 microduplication syndrome [RCV002280354] | Chr15:22810652..29822566 [GRCh38] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.8del (p.Gly3fs) | deletion | Developmental and epileptic encephalopathy, 43 [RCV001262966] | Chr15:26772955 [GRCh38] Chr15:27018102 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1399T>C (p.Tyr467His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001342028] | Chr15:26547816 [GRCh38] Chr15:26792963 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.461+5G>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001319287] | Chr15:26621309 [GRCh38] Chr15:26866456 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001329412] | Chr15:26580322 [GRCh38] Chr15:26825469 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.173-5C>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001351031] | Chr15:26772474 [GRCh38] Chr15:27017621 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.835+6T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001315210] | Chr15:26567575 [GRCh38] Chr15:26812722 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.308C>A (p.Pro103His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001340815] | Chr15:26621467 [GRCh38] Chr15:26866614 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val) | single nucleotide variant | See cases [RCV001420206]|not provided [RCV001311379] | Chr15:26561096 [GRCh38] Chr15:26806243 [GRCh37] Chr15:15q12 |
likely pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.1226G>A (p.Arg409Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001318549] | Chr15:26547989 [GRCh38] Chr15:26793136 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.689A>G (p.Tyr230Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001294354] | Chr15:26567727 [GRCh38] Chr15:26812874 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.9:g.(?_26792940)_(27018109_?)dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV001372148] | Chr15:26792940..27018109 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.898A>G (p.Ile300Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001306906] | Chr15:26561114 [GRCh38] Chr15:26806261 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001329411] | Chr15:26583380 [GRCh38] Chr15:26828527 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.73G>A (p.Ala25Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001422318] | Chr15:26772890 [GRCh38] Chr15:27018037 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-7176T>C | single nucleotide variant | not provided [RCV001538862] | Chr15:26628710 [GRCh38] Chr15:26873857 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.240+55619C>G | single nucleotide variant | not provided [RCV001538960] | Chr15:26716783 [GRCh38] Chr15:26961930 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.434C>G (p.Pro145Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001318494]|Inborn genetic diseases [RCV002543751] | Chr15:26621341 [GRCh38] Chr15:26866488 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.413A>C (p.Asn138Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001301436] | Chr15:26621362 [GRCh38] Chr15:26866509 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.458T>C (p.Leu153Pro) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001323917] | Chr15:26621317 [GRCh38] Chr15:26866464 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.835G>A (p.Gly279Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001346040] | Chr15:26567581 [GRCh38] Chr15:26812728 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.352G>A (p.Val118Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001315958] | Chr15:26621423 [GRCh38] Chr15:26866570 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.416G>A (p.Arg139His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001338941] | Chr15:26621359 [GRCh38] Chr15:26866506 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.679A>G (p.Thr227Ala) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001341309] | Chr15:26580322 [GRCh38] Chr15:26825469 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) | microsatellite | Developmental and epileptic encephalopathy, 43 [RCV002227523]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001361743] | Chr15:26580330..26580332 [GRCh38] Chr15:26825477..26825479 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.9:g.(?_26792940)_(27020442_?)dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV001327931] | Chr15:26792940..27020442 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1080+3A>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001314102] | Chr15:26560929 [GRCh38] Chr15:26806076 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.394C>T (p.His132Tyr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001341528] | Chr15:26621381 [GRCh38] Chr15:26866528 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.34A>G (p.Ile12Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001323683] | Chr15:26772929 [GRCh38] Chr15:27018076 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.932T>C (p.Met311Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001302752] | Chr15:26561080 [GRCh38] Chr15:26806227 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.522C>G (p.Asn174Lys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001360145]|not provided [RCV001762618] | Chr15:26583354 [GRCh38] Chr15:26828501 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.119C>T (p.Thr40Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001318224] | Chr15:26772734 [GRCh38] Chr15:27017881 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.267A>G (p.Gln89=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001366830] | Chr15:26621508 [GRCh38] Chr15:26866655 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1 | copy number loss | not provided [RCV001281355] | Chr15:23707435..28726651 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001358688]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001300092] | Chr15:26561101 [GRCh38] Chr15:26806248 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.1139A>C (p.Glu380Ala) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001305858] | Chr15:26548076 [GRCh38] Chr15:26793223 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460) | copy number gain | Epileptic encephalopathy [RCV001291989] | Chr15:23208842..28525460 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.649C>T (p.Arg217Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001303656]|not provided [RCV001776181] | Chr15:26580352 [GRCh38] Chr15:26825499 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.943G>A (p.Val315Ile) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001337951] | Chr15:26561069 [GRCh38] Chr15:26806216 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.878T>C (p.Leu293Pro) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001365820] | Chr15:26561134 [GRCh38] Chr15:26806281 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1329C>T (p.Thr443=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001402245] | Chr15:26547886 [GRCh38] Chr15:26793033 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-9T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001431142] | Chr15:26621543 [GRCh38] Chr15:26866690 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.9:g.(?_26792940)_(27020442_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001381606] | Chr15:26792940..27020442 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.936C>T (p.Gly312=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001489800] | Chr15:26561076 [GRCh38] Chr15:26806223 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.462-7A>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001497831] | Chr15:26583421 [GRCh38] Chr15:26828568 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.10:g.22804175_30375696dup | duplication | 15q11q13 microduplication syndrome [RCV001420629] | Chr15:22804175..30375696 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_000814.6(GABRB3):c.172+10C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001435990] | Chr15:26772671 [GRCh38] Chr15:27017818 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.379A>G (p.Lys127Glu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001378721] | Chr15:26621396 [GRCh38] Chr15:26866543 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.255C>T (p.Thr85=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001419490] | Chr15:26621520 [GRCh38] Chr15:26866667 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.10:g.26773866C>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001515133]|not provided [RCV002264367] | Chr15:26773866 [GRCh38] Chr15:27019013 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.1146A>G (p.Ser382=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001465633] | Chr15:26548069 [GRCh38] Chr15:26793216 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1080+256C>A | single nucleotide variant | not provided [RCV001695216] | Chr15:26560676 [GRCh38] Chr15:26805823 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.513C>T (p.Asp171=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001459893] | Chr15:26583363 [GRCh38] Chr15:26828510 [GRCh37] Chr15:15q12 |
likely benign |
NM_021912.5(GABRB3):c.14T>A (p.Leu5His) | single nucleotide variant | not provided [RCV001670747] | Chr15:26773711 [GRCh38] Chr15:27018858 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001523561]|Inborn genetic diseases [RCV003346604] | Chr15:26772944 [GRCh38] Chr15:27018091 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000814.6(GABRB3):c.761C>A (p.Ser254Tyr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001379623] | Chr15:26567655 [GRCh38] Chr15:26812802 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001381109] | Chr15:26621487 [GRCh38] Chr15:26866634 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.174T>G (p.Gly58=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001401614] | Chr15:26772468 [GRCh38] Chr15:27017615 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.627G>A (p.Pro209=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001484579]|Inborn genetic diseases [RCV002368489] | Chr15:26580374 [GRCh38] Chr15:26825521 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.172+7G>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001406359] | Chr15:26772674 [GRCh38] Chr15:27017821 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.683-9_683-8del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001482428] | Chr15:26567741..26567742 [GRCh38] Chr15:26812888..26812889 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-7465G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001514407] | Chr15:26628999 [GRCh38] Chr15:26874146 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.594G>A (p.Lys198=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001496979] | Chr15:26580407 [GRCh38] Chr15:26825554 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1079G>A (p.Arg360Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001498145]|not provided [RCV001546196] | Chr15:26560933 [GRCh38] Chr15:26806080 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.660G>A (p.Ser220=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001498775] | Chr15:26580341 [GRCh38] Chr15:26825488 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.81-4C>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001499151] | Chr15:26772776 [GRCh38] Chr15:27017923 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.570G>A (p.Glu190=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001452338] | Chr15:26580431 [GRCh38] Chr15:26825578 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.840C>T (p.Ile280=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001424081] | Chr15:26561172 [GRCh38] Chr15:26806319 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1362C>T (p.Ile454=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001426478] | Chr15:26547853 [GRCh38] Chr15:26793000 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.291C>T (p.Leu97=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001463912] | Chr15:26621484 [GRCh38] Chr15:26866631 [GRCh37] Chr15:15q12 |
likely benign |
NC_000015.9:g.(?_26866441)_(26866701_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV003105339] | Chr15:26866441..26866701 [GRCh37] Chr15:15q12 |
pathogenic |
NC_000015.9:g.(?_26107444)_(28230334_?)del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV003105342] | Chr15:26107444..28230334 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.241-7440A>G | single nucleotide variant | not provided [RCV001726935] | Chr15:26628974 [GRCh38] Chr15:26874121 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV002255234] | Chr15:26772702 [GRCh38] Chr15:27017849 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001775334] | Chr15:26567638 [GRCh38] Chr15:26812785 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.675C>G (p.Phe225Leu) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV001788527] | Chr15:26580326 [GRCh38] Chr15:26825473 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.950T>C (p.Val317Ala) | single nucleotide variant | not provided [RCV001752882] | Chr15:26561062 [GRCh38] Chr15:26806209 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr) | single nucleotide variant | not provided [RCV001767945] | Chr15:26547908 [GRCh38] Chr15:26793055 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.901C>G (p.Pro301Ala) | single nucleotide variant | not provided [RCV001776359] | Chr15:26561111 [GRCh38] Chr15:26806258 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.391G>T (p.Val131Leu) | single nucleotide variant | not provided [RCV001753272] | Chr15:26621384 [GRCh38] Chr15:26866531 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.619_623del (p.Glu207fs) | deletion | not specified [RCV001815068] | Chr15:26580378..26580382 [GRCh38] Chr15:26825525..26825529 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1080+257dup | duplication | not provided [RCV001762905] | Chr15:26560674..26560675 [GRCh38] Chr15:26805821..26805822 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.992del (p.Phe331fs) | deletion | not provided [RCV001757532] | Chr15:26561020 [GRCh38] Chr15:26806167 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.445G>A (p.Val149Met) | single nucleotide variant | not provided [RCV001757702] | Chr15:26621330 [GRCh38] Chr15:26866477 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.-2G>A | single nucleotide variant | not provided [RCV001815773] | Chr15:26772964 [GRCh38] Chr15:27018111 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.282T>G (p.Asp94Glu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001885139]|not provided [RCV001776951] | Chr15:26621493 [GRCh38] Chr15:26866640 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.513C>G (p.Asp171Glu) | single nucleotide variant | not provided [RCV001776916] | Chr15:26583363 [GRCh38] Chr15:26828510 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.240+2T>C | single nucleotide variant | not provided [RCV001757352] | Chr15:26772400 [GRCh38] Chr15:27017547 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.249C>T (p.Thr83=) | single nucleotide variant | not provided [RCV001815772] | Chr15:26621526 [GRCh38] Chr15:26866673 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1182del (p.Phe395fs) | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001895931] | Chr15:26548033 [GRCh38] Chr15:26793180 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.191G>A (p.Gly64Glu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002009397] | Chr15:26772451 [GRCh38] Chr15:27017598 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1330G>A (p.Asp444Asn) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001948930] | Chr15:26547885 [GRCh38] Chr15:26793032 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.9:g.(?_26792940)_(28544682_?)dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV003107872]|not provided [RCV001874738] | Chr15:26792940..28544682 [GRCh37] Chr15:15q12-13.1 |
uncertain significance|no classifications from unflagged records |
NM_000814.6(GABRB3):c.982A>C (p.Asn328His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002040582] | Chr15:26561030 [GRCh38] Chr15:26806177 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.172+4A>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002039272]|not provided [RCV003326589] | Chr15:26772677 [GRCh38] Chr15:27017824 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.172+3_172+6del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001968723] | Chr15:26772675..26772678 [GRCh38] Chr15:27017822..27017825 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1159G>A (p.Asp387Asn) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001893668] | Chr15:26548056 [GRCh38] Chr15:26793203 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.33C>T (p.Gly11=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001894593] | Chr15:26772930 [GRCh38] Chr15:27018077 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NC_000015.10:g.23370759_30529376del | deletion | Angelman syndrome [RCV001839262] | Chr15:23370759..30529376 [GRCh38] Chr15:15q11.2-13.2 |
pathogenic |
NM_000814.6(GABRB3):c.1348A>T (p.Arg450Ter) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002023735] | Chr15:26547867 [GRCh38] Chr15:26793014 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.637A>G (p.Ile213Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001947284] | Chr15:26580364 [GRCh38] Chr15:26825511 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.799A>G (p.Ile267Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002021564] | Chr15:26567617 [GRCh38] Chr15:26812764 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.683-3T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001872331] | Chr15:26567736 [GRCh38] Chr15:26812883 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601) | copy number gain | 15q11q13 microduplication syndrome [RCV002280725] | Chr15:23620191..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.81-5C>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001927037]|Inborn genetic diseases [RCV002423067] | Chr15:26772777 [GRCh38] Chr15:27017924 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.1362C>G (p.Ile454Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001872732] | Chr15:26547853 [GRCh38] Chr15:26793000 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001982994] | Chr15:26583406 [GRCh38] Chr15:26828553 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 5 [RCV001842246]|not provided [RCV002291773] | Chr15:26583390 [GRCh38] Chr15:26828537 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.958G>A (p.Ala320Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002000748] | Chr15:26561054 [GRCh38] Chr15:26806201 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.668T>A (p.Val223Asp) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001876415] | Chr15:26580333 [GRCh38] Chr15:26825480 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.374del (p.Asn125fs) | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001999950] | Chr15:26621401 [GRCh38] Chr15:26866548 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.59C>T (p.Ala20Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002027774]|Inborn genetic diseases [RCV002551187] | Chr15:26772904 [GRCh38] Chr15:27018051 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.310C>T (p.Leu104Phe) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002020198] | Chr15:26621465 [GRCh38] Chr15:26866612 [GRCh37] Chr15:15q12 |
uncertain significance |
NC_000015.9:g.(?_26792940)_(28544682_?)del | deletion | not provided [RCV001972406] | Chr15:26792940..28544682 [GRCh37] Chr15:15q12-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.311T>C (p.Leu104Pro) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002038815] | Chr15:26621464 [GRCh38] Chr15:26866611 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1211A>T (p.Lys404Ile) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001955644] | Chr15:26548004 [GRCh38] Chr15:26793151 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.598G>A (p.Val200Ile) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001920232] | Chr15:26580403 [GRCh38] Chr15:26825550 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.143A>G (p.Tyr48Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001973689] | Chr15:26772710 [GRCh38] Chr15:27017857 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV002307810]|Epilepsy, childhood absence, susceptibility to, 1 [RCV001994878] | Chr15:26561152 [GRCh38] Chr15:26806299 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.245A>C (p.Tyr82Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001905776] | Chr15:26621530 [GRCh38] Chr15:26866677 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.320C>T (p.Thr107Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001939062] | Chr15:26621455 [GRCh38] Chr15:26866602 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.53T>A (p.Leu18Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001904109] | Chr15:26772910 [GRCh38] Chr15:27018057 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1127A>C (p.Asn376Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001886060] | Chr15:26548088 [GRCh38] Chr15:26793235 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.240G>A (p.Met80Ile) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001904970] | Chr15:26772402 [GRCh38] Chr15:27017549 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.673T>G (p.Phe225Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001981035] | Chr15:26580328 [GRCh38] Chr15:26825475 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.190G>C (p.Gly64Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001906215] | Chr15:26772452 [GRCh38] Chr15:27017599 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1327A>T (p.Thr443Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001920273]|not provided [RCV002275282] | Chr15:26547888 [GRCh38] Chr15:26793035 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.850_852dup (p.Leu284dup) | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV001980685] | Chr15:26561159..26561160 [GRCh38] Chr15:26806306..26806307 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.405_406del (p.Val136fs) | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV001951206] | Chr15:26621369..26621370 [GRCh38] Chr15:26866516..26866517 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV001899452]|Epilepsy, childhood absence, susceptibility to, 5 [RCV003458778] | Chr15:26548134 [GRCh38] Chr15:26793281 [GRCh37] Chr15:15q12 |
uncertain significance|not provided |
NM_000814.6(GABRB3):c.1321dup (p.Asp441fs) | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV001978111] | Chr15:26547893..26547894 [GRCh38] Chr15:26793040..26793041 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.173-17T>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002145252] | Chr15:26772486 [GRCh38] Chr15:27017633 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1080+14_1080+15inv | inversion | Epilepsy, childhood absence, susceptibility to, 1 [RCV002168238] | Chr15:26560917..26560918 [GRCh38] Chr15:26806064..26806065 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1081-13del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV002111217] | Chr15:26548147 [GRCh38] Chr15:26793294 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.80+13G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002106414] | Chr15:26772870 [GRCh38] Chr15:27018017 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1286G>A (p.Arg429Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003089208]|not provided [RCV002226114] | Chr15:26547929 [GRCh38] Chr15:26793076 [GRCh37] Chr15:15q12 |
likely benign|uncertain significance |
NM_000814.6(GABRB3):c.241-12T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002169699] | Chr15:26621546 [GRCh38] Chr15:26866693 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.915C>T (p.Ala305=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002125207] | Chr15:26561097 [GRCh38] Chr15:26806244 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.549C>T (p.Gly183=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002091453] | Chr15:26580452 [GRCh38] Chr15:26825599 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1081-17A>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002112705] | Chr15:26548151 [GRCh38] Chr15:26793298 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-3dup | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV002110247] | Chr15:26621536..26621537 [GRCh38] Chr15:26866683..26866684 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.639C>T (p.Ile213=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002129031] | Chr15:26580362 [GRCh38] Chr15:26825509 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.683-16T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002075556] | Chr15:26567749 [GRCh38] Chr15:26812896 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.240+12C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002126938] | Chr15:26772390 [GRCh38] Chr15:27017537 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.459C>T (p.Leu153=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002080895] | Chr15:26621316 [GRCh38] Chr15:26866463 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1101T>A (p.Ile367=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002166906] | Chr15:26548114 [GRCh38] Chr15:26793261 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.975C>T (p.Ala325=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002076052] | Chr15:26561037 [GRCh38] Chr15:26806184 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1080+6C>T | single nucleotide variant | not provided [RCV002211287] | Chr15:26560926 [GRCh38] Chr15:26806073 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.241-3del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV002097558] | Chr15:26621537 [GRCh38] Chr15:26866684 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.774G>A (p.Thr258=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002115549] | Chr15:26567642 [GRCh38] Chr15:26812789 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.462-14C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002080773] | Chr15:26583428 [GRCh38] Chr15:26828575 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.732A>C (p.Gly244=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002196441] | Chr15:26567684 [GRCh38] Chr15:26812831 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.144C>T (p.Tyr48=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002215237] | Chr15:26772709 [GRCh38] Chr15:27017856 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1081-11C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002113310] | Chr15:26548145 [GRCh38] Chr15:26793292 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.172+8G>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002193755] | Chr15:26772673 [GRCh38] Chr15:27017820 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.240+12_240+13delinsGT | indel | Epilepsy, childhood absence, susceptibility to, 1 [RCV002104706] | Chr15:26772389..26772390 [GRCh38] Chr15:27017536..27017537 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.173-15C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002115565] | Chr15:26772484 [GRCh38] Chr15:27017631 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.192G>C (p.Gly64=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002131810] | Chr15:26772450 [GRCh38] Chr15:27017597 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.172+17C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002121246] | Chr15:26772664 [GRCh38] Chr15:27017811 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.803A>G (p.Asn268Ser) | single nucleotide variant | not provided [RCV002247215] | Chr15:26567613 [GRCh38] Chr15:26812760 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.883G>T (p.Glu295Ter) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003138120]|not specified [RCV002247851] | Chr15:26561129 [GRCh38] Chr15:26806276 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.381A>G (p.Lys127=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002175621] | Chr15:26621394 [GRCh38] Chr15:26866541 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 5 [RCV002249048] | Chr15:26772707 [GRCh38] Chr15:27017854 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.172+16G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002100520] | Chr15:26772665 [GRCh38] Chr15:27017812 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.682+7C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002081476] | Chr15:26580312 [GRCh38] Chr15:26825459 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.471G>A (p.Thr157=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002156333] | Chr15:26583405 [GRCh38] Chr15:26828552 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.393G>T (p.Val131=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002217499] | Chr15:26621382 [GRCh38] Chr15:26866529 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.81-16C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002180046] | Chr15:26772788 [GRCh38] Chr15:27017935 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.80+10C>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002178697] | Chr15:26772873 [GRCh38] Chr15:27018020 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.918T>A (p.Ile306=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002203297] | Chr15:26561094 [GRCh38] Chr15:26806241 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.836-19del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV002220028] | Chr15:26561195 [GRCh38] Chr15:26806342 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.80+12G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002142439] | Chr15:26772871 [GRCh38] Chr15:27018018 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1261C>T (p.Leu421Phe) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003115213] | Chr15:26547954 [GRCh38] Chr15:26793101 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.881G>A (p.Arg294Gln) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003112302]|not provided [RCV003229117] | Chr15:26561131 [GRCh38] Chr15:26806278 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.5(GABRB3):c.19G>A (p.Glu7Lys) | single nucleotide variant | not provided [RCV002262454] | Chr15:26773706 [GRCh38] Chr15:27018853 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.630_631delinsCG (p.Gln210_Phe211delinsHisVal) | indel | not provided [RCV002275507] | Chr15:26580370..26580371 [GRCh38] Chr15:26825517..26825518 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 5 [RCV002275670] | Chr15:26567625 [GRCh38] Chr15:26812772 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.240+55863C>T | single nucleotide variant | not provided [RCV002275853] | Chr15:26716539 [GRCh38] Chr15:26961686 [GRCh37] Chr15:15q12 |
likely benign |
GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838) | copy number loss | Angelman syndrome [RCV002280758] | Chr15:23290862..28522838 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 5 [RCV002266660] | Chr15:26621351 [GRCh38] Chr15:26866498 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838) | copy number loss | Angelman syndrome [RCV002280757] | Chr15:23615768..28522838 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) | copy number loss | Angelman syndrome [RCV002280759] | Chr15:23285775..30386399 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
NM_000814.6(GABRB3):c.452A>G (p.Tyr151Cys) | single nucleotide variant | not provided [RCV002267308] | Chr15:26621323 [GRCh38] Chr15:26866470 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1280A>G (p.His427Arg) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003229779] | Chr15:26547935 [GRCh38] Chr15:26793082 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) | copy number gain | See cases [RCV002286340] | Chr15:30370019..30374368 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1 | copy number loss | See cases [RCV002286346] | Chr15:23288374..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_021912.5(GABRB3):c.47G>A (p.Trp16Ter) | single nucleotide variant | not provided [RCV002283291] | Chr15:26773678 [GRCh38] Chr15:27018825 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578) | copy number loss | Angelman syndrome [RCV002280761] | Chr15:23689315..28644578 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
Single allele | complex | Distal tetrasomy 15q [RCV002280777] | Chr15:22770421..32446830 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 | copy number gain | FETAL DEMISE [RCV002282734] | Chr15:22770421..29057676 [GRCh37] Chr15:15q11.2-13.1 |
uncertain significance |
NM_000814.6(GABRB3):c.240+8206_240+8254del | deletion | Schizophrenia [RCV002463516] | Chr15:26764148..26764196 [GRCh38] Chr15:27009295..27009343 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1099A>G (p.Ile367Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002297275] | Chr15:26548116 [GRCh38] Chr15:26793263 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.589G>T (p.Asp197Tyr) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV002289324] | Chr15:26580412 [GRCh38] Chr15:26825559 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1412A>G (p.Tyr471Cys) | single nucleotide variant | not provided [RCV003156657] | Chr15:26547803 [GRCh38] Chr15:26792950 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 | copy number gain | not provided [RCV002473936] | Chr15:22770422..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 | copy number gain | not provided [RCV002473944] | Chr15:22770422..30386553 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1 | copy number loss | not provided [RCV002474513] | Chr15:23615769..28534245 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.479C>A (p.Ala160Glu) | single nucleotide variant | Myoepithelial tumor [RCV002463891] | Chr15:26583397 [GRCh38] Chr15:26828544 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1 | copy number loss | not provided [RCV002472551] | Chr15:23670891..28561671 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3 | copy number gain | not provided [RCV002474488] | Chr15:23615769..28545601 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV002472234] | Chr15:26547875 [GRCh38] Chr15:26793022 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1 | copy number loss | not provided [RCV002474564] | Chr15:23290787..28560269 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 | copy number gain | not provided [RCV002474562] | Chr15:22770422..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.229G>T (p.Glu77Ter) | single nucleotide variant | Inborn genetic diseases [RCV002446297] | Chr15:26772413 [GRCh38] Chr15:27017560 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.5(GABRB3):c.13C>G (p.Leu5Val) | single nucleotide variant | Inborn genetic diseases [RCV002389236] | Chr15:26773712 [GRCh38] Chr15:27018859 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.670G>T (p.Val224Phe) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002304433] | Chr15:26580331 [GRCh38] Chr15:26825478 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.11T>G (p.Leu4Arg) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002300145] | Chr15:26772952 [GRCh38] Chr15:27018099 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1138G>A (p.Glu380Lys) | single nucleotide variant | Inborn genetic diseases [RCV002326567] | Chr15:26548077 [GRCh38] Chr15:26793224 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.61G>A (p.Val21Met) | single nucleotide variant | Inborn genetic diseases [RCV002353849] | Chr15:26772902 [GRCh38] Chr15:27018049 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV002308487]|Epilepsy, childhood absence, susceptibility to, 1 [RCV002310597]|not specified [RCV002310596] | Chr15:26580421 [GRCh38] Chr15:26825568 [GRCh37] Chr15:15q12 |
pathogenic|uncertain significance |
NM_000814.6(GABRB3):c.29T>A (p.Phe10Tyr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002295552] | Chr15:26772934 [GRCh38] Chr15:27018081 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.328A>G (p.Asn110Asp) | single nucleotide variant | Inborn genetic diseases [RCV002445812] | Chr15:26621447 [GRCh38] Chr15:26866594 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.948T>C (p.Phe316=) | single nucleotide variant | Inborn genetic diseases [RCV002443522] | Chr15:26561064 [GRCh38] Chr15:26806211 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.563A>T (p.Asp188Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002298014] | Chr15:26580438 [GRCh38] Chr15:26825585 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_021912.5(GABRB3):c.13C>T (p.Leu5Phe) | single nucleotide variant | Inborn genetic diseases [RCV002389238] | Chr15:26773712 [GRCh38] Chr15:27018859 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.80+8C>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002903733] | Chr15:26772875 [GRCh38] Chr15:27018022 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-14del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV002838748] | Chr15:26621548 [GRCh38] Chr15:26866695 [GRCh37] Chr15:15q12 |
benign |
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1 | copy number loss | not provided [RCV002511814] | Chr15:23684645..28566612 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.80+15G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002972478] | Chr15:26772868 [GRCh38] Chr15:27018015 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.42G>C (p.Ser14=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003074943] | Chr15:26772921 [GRCh38] Chr15:27018068 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1332T>C (p.Asp444=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003014137] | Chr15:26547883 [GRCh38] Chr15:26793030 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.173-18G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002616619] | Chr15:26772487 [GRCh38] Chr15:27017634 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.659C>T (p.Ser220Leu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002975646] | Chr15:26580342 [GRCh38] Chr15:26825489 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1136A>G (p.Asn379Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002903920] | Chr15:26548079 [GRCh38] Chr15:26793226 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3 | copy number gain | not provided [RCV002475662] | Chr15:23632678..28545355 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.173-7C>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002904756] | Chr15:26772476 [GRCh38] Chr15:27017623 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1177A>G (p.Ile393Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003075480] | Chr15:26548038 [GRCh38] Chr15:26793185 [GRCh37] Chr15:15q12 |
likely benign |
NM_021912.5(GABRB3):c.19_27del (p.Glu7_Leu9del) | deletion | Inborn genetic diseases [RCV002752293] | Chr15:26773698..26773706 [GRCh38] Chr15:27018845..27018853 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.544+12T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003016496] | Chr15:26583320 [GRCh38] Chr15:26828467 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.866T>C (p.Ile289Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002994300] | Chr15:26561146 [GRCh38] Chr15:26806293 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 | copy number loss | not provided [RCV002511813] | Chr15:22833525..28544662 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.240+5G>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002991418] | Chr15:26772397 [GRCh38] Chr15:27017544 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1030G>A (p.Glu344Lys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002862854] | Chr15:26560982 [GRCh38] Chr15:26806129 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1117G>A (p.Glu373Lys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003074763] | Chr15:26548098 [GRCh38] Chr15:26793245 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3 | copy number gain | not provided [RCV002475533] | Chr15:23620192..28545459 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.676G>A (p.Ala226Thr) | single nucleotide variant | not provided [RCV002461779] | Chr15:26580325 [GRCh38] Chr15:26825472 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.544T>C (p.Tyr182His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002843000] | Chr15:26583332 [GRCh38] Chr15:26828479 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.544+11G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002622918] | Chr15:26583321 [GRCh38] Chr15:26828468 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1410C>T (p.Tyr470=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002593057] | Chr15:26547805 [GRCh38] Chr15:26792952 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1100T>C (p.Ile367Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002623052] | Chr15:26548115 [GRCh38] Chr15:26793262 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1302G>C (p.Gln434His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002796815] | Chr15:26547913 [GRCh38] Chr15:26793060 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.868A>C (p.Asn290His) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002825522] | Chr15:26561144 [GRCh38] Chr15:26806291 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.844A>G (p.Thr282Ala) | single nucleotide variant | Inborn genetic diseases [RCV002762095] | Chr15:26561168 [GRCh38] Chr15:26806315 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1151G>T (p.Gly384Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002796506] | Chr15:26548064 [GRCh38] Chr15:26793211 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.172+19G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002706166] | Chr15:26772662 [GRCh38] Chr15:27017809 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.172+6T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002823912] | Chr15:26772675 [GRCh38] Chr15:27017822 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.99C>T (p.Asn33=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002923594] | Chr15:26772754 [GRCh38] Chr15:27017901 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003147811]|Epilepsy, childhood absence, susceptibility to, 1 [RCV003019321] | Chr15:26772699 [GRCh38] Chr15:27017846 [GRCh37] Chr15:15q12 |
pathogenic|likely pathogenic |
NM_000814.6(GABRB3):c.1070A>C (p.Glu357Ala) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002637729] | Chr15:26560942 [GRCh38] Chr15:26806089 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.507C>A (p.Pro169=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002825090] | Chr15:26583369 [GRCh38] Chr15:26828516 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.81-16C>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003054882] | Chr15:26772788 [GRCh38] Chr15:27017935 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.273T>C (p.Tyr91=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002871085] | Chr15:26621502 [GRCh38] Chr15:26866649 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.173-4G>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003079340] | Chr15:26772473 [GRCh38] Chr15:27017620 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002825095] | Chr15:26772957 [GRCh38] Chr15:27018104 [GRCh37] Chr15:15q12 |
pathogenic |
NM_000814.6(GABRB3):c.1080+7T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002926798] | Chr15:26560925 [GRCh38] Chr15:26806072 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1116G>T (p.Leu372=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002949090] | Chr15:26548099 [GRCh38] Chr15:26793246 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.47C>A (p.Pro16Gln) | single nucleotide variant | Inborn genetic diseases [RCV002827890] | Chr15:26772916 [GRCh38] Chr15:27018063 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly) | duplication | Epilepsy, childhood absence, susceptibility to, 1 [RCV003043555] | Chr15:26621374..26621375 [GRCh38] Chr15:26866521..26866522 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.1178T>C (p.Ile393Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003042826] | Chr15:26548037 [GRCh38] Chr15:26793184 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1185T>C (p.Phe395=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002623598] | Chr15:26548030 [GRCh38] Chr15:26793177 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1194A>T (p.Ser398=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002801875] | Chr15:26548021 [GRCh38] Chr15:26793168 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.80+7T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003022837] | Chr15:26772876 [GRCh38] Chr15:27018023 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.64G>T (p.Val22Leu) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002572260] | Chr15:26772899 [GRCh38] Chr15:27018046 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.756G>A (p.Met252Ile) | single nucleotide variant | not provided [RCV002508564] | Chr15:26567660 [GRCh38] Chr15:26812807 [GRCh37] Chr15:15q12 |
conflicting interpretations of pathogenicity |
NM_000814.6(GABRB3):c.240+7G>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002596781] | Chr15:26772395 [GRCh38] Chr15:27017542 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1219A>G (p.Met407Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002851511] | Chr15:26547996 [GRCh38] Chr15:26793143 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.93C>T (p.Pro31=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003084186] | Chr15:26772760 [GRCh38] Chr15:27017907 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.461+17A>G | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002791068] | Chr15:26621297 [GRCh38] Chr15:26866444 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1350A>G (p.Arg450=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002890655] | Chr15:26547865 [GRCh38] Chr15:26793012 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.804T>G (p.Asn268Lys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002829880] | Chr15:26567612 [GRCh38] Chr15:26812759 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.892C>T (p.Pro298Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002851181] | Chr15:26561120 [GRCh38] Chr15:26806267 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.173G>T (p.Gly58Val) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003040024] | Chr15:26772469 [GRCh38] Chr15:27017616 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1140G>A (p.Glu380=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003024191] | Chr15:26548075 [GRCh38] Chr15:26793222 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1245C>T (p.Phe415=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002766822] | Chr15:26547970 [GRCh38] Chr15:26793117 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1248G>C (p.Leu416=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003030707] | Chr15:26547967 [GRCh38] Chr15:26793114 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.201C>T (p.Ile67=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002899130] | Chr15:26772441 [GRCh38] Chr15:27017588 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.270A>G (p.Gln90=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002898968] | Chr15:26621505 [GRCh38] Chr15:26866652 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.662G>A (p.Arg221Lys) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003064237] | Chr15:26580339 [GRCh38] Chr15:26825486 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.683-29_683-18del | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV002806806] | Chr15:26567751..26567762 [GRCh38] Chr15:26812898..26812909 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.525C>G (p.Cys175Trp) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003028827] | Chr15:26583351 [GRCh38] Chr15:26828498 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1192T>A (p.Ser398Thr) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002806635] | Chr15:26548023 [GRCh38] Chr15:26793170 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.461+4T>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003009265] | Chr15:26621310 [GRCh38] Chr15:26866457 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.241-1G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002746673] | Chr15:26621535 [GRCh38] Chr15:26866682 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003128319]|Epilepsy, childhood absence, susceptibility to, 1 [RCV003009959] | Chr15:26621338 [GRCh38] Chr15:26866485 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.481T>A (p.Cys161Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003032176] | Chr15:26583395 [GRCh38] Chr15:26828542 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.1167G>A (p.Arg389=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003067852] | Chr15:26548048 [GRCh38] Chr15:26793195 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1400A>C (p.Tyr467Ser) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002815084] | Chr15:26547815 [GRCh38] Chr15:26792962 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.835+7G>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002721541] | Chr15:26567574 [GRCh38] Chr15:26812721 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003149122] | Chr15:26583383 [GRCh38] Chr15:26828530 [GRCh37] Chr15:15q12 |
likely pathogenic |
NM_000814.6(GABRB3):c.1163C>T (p.Thr388Ile) | single nucleotide variant | not provided [RCV003129175] | Chr15:26548052 [GRCh38] Chr15:26793199 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1414_1416del (p.Val472del) | deletion | Epilepsy, childhood absence, susceptibility to, 1 [RCV003052533] | Chr15:26547799..26547801 [GRCh38] Chr15:26792946..26792948 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.461+19G>A | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003067972] | Chr15:26621295 [GRCh38] Chr15:26866442 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.498G>A (p.Arg166=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002589158] | Chr15:26583378 [GRCh38] Chr15:26828525 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.91_92delinsTT (p.Pro31Phe) | indel | Epilepsy, childhood absence, susceptibility to, 1 [RCV002943089] | Chr15:26772761..26772762 [GRCh38] Chr15:27017908..27017909 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1320T>C (p.Pro440=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV002815049] | Chr15:26547895 [GRCh38] Chr15:26793042 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1189A>C (p.Asn397His) | single nucleotide variant | not provided [RCV003227203] | Chr15:26548026 [GRCh38] Chr15:26793173 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg) | single nucleotide variant | Developmental and epileptic encephalopathy, 43 [RCV003225637] | Chr15:26561083 [GRCh38] Chr15:26806230 [GRCh37] Chr15:15q12 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1 | copy number loss | not provided [RCV003222838] | Chr15:23406271..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.26T>C (p.Leu9Pro) | single nucleotide variant | not provided [RCV003323230] | Chr15:26772937 [GRCh38] Chr15:27018084 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.128A>G (p.Lys43Arg) | single nucleotide variant | not provided [RCV003319122] | Chr15:26772725 [GRCh38] Chr15:27017872 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) | copy number gain | 15q11q13 microduplication syndrome [RCV003319585] | Chr15:22770421..30386398 [GRCh37] Chr15:15q11.2-13.2 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 | copy number gain | not provided [RCV003326925] | Chr15:22742396..28567325 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_021912.5(GABRB3):c.68C>T (p.Ser23Phe) | single nucleotide variant | not provided [RCV003334171] | Chr15:26773657 [GRCh38] Chr15:27018804 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1 | copy number loss | not provided [RCV003326926] | Chr15:23605427..28566579 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000810.4(GABRA5):c.610G>A (p.Val204Ile) | single nucleotide variant | not provided [RCV000968710] | Chr15:26937214 [GRCh38] Chr15:27182361 [GRCh37] Chr15:15q12 |
benign |
NM_000810.4(GABRA5):c.209-7C>G | single nucleotide variant | not provided [RCV003393669] | Chr15:26883159 [GRCh38] Chr15:27128306 [GRCh37] Chr15:15q12 |
benign |
NM_000814.6(GABRB3):c.782C>T (p.Ser261Leu) | single nucleotide variant | Epileptic encephalopathy [RCV003484995] | Chr15:26567634 [GRCh38] Chr15:26812781 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 | copy number gain | not provided [RCV003485056] | Chr15:22770422..36556562 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 | copy number gain | not provided [RCV003485057] | Chr15:22770422..32915593 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 | copy number gain | not provided [RCV003485058] | Chr15:22770422..29013164 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_021912.5(GABRB3):c.1A>G (p.Met1Val) | single nucleotide variant | not provided [RCV003443584] | Chr15:26773724 [GRCh38] Chr15:27018871 [GRCh37] Chr15:15q12 |
uncertain significance |
GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1 | copy number loss | not provided [RCV003483220] | Chr15:23615769..28915864 [GRCh37] Chr15:15q11.2-13.1 |
pathogenic |
NM_000814.6(GABRB3):c.1055A>C (p.Asp352Ala) | single nucleotide variant | not provided [RCV003442586] | Chr15:26560957 [GRCh38] Chr15:26806104 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.725-672C>T | single nucleotide variant | not provided [RCV003393673] | Chr15:26939253 [GRCh38] Chr15:27184400 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000810.4(GABRA5):c.222G>A (p.Gln74=) | single nucleotide variant | not provided [RCV000904746] | Chr15:26883179 [GRCh38] Chr15:27128326 [GRCh37] Chr15:15q12 |
benign|likely benign |
NM_000810.4(GABRA5):c.725-584T>C | single nucleotide variant | not provided [RCV002262455] | Chr15:26939341 [GRCh38] Chr15:27184488 [GRCh37] Chr15:15q12 |
likely benign |
Single allele | duplication | not provided [RCV003448679] | Chr15:22750407..32516333 [GRCh37] Chr15:15q11.2-13.3 |
pathogenic |
NM_000814.6(GABRB3):c.507C>G (p.Pro169=) | single nucleotide variant | not provided [RCV003393667] | Chr15:26583369 [GRCh38] Chr15:26828516 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1081-5391T>A | single nucleotide variant | not provided [RCV003393666] | Chr15:26553525 [GRCh38] Chr15:26798672 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.241-7464G>A | single nucleotide variant | not provided [RCV003393668] | Chr15:26628998 [GRCh38] Chr15:26874145 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.1305C>G (p.Leu435=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003780599] | Chr15:26547910 [GRCh38] Chr15:26793057 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.387A>G (p.Ser129=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003779467] | Chr15:26621388 [GRCh38] Chr15:26866535 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1296T>C (p.Ser432=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003789082] | Chr15:26547919 [GRCh38] Chr15:26793066 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.240+10C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003788202] | Chr15:26772392 [GRCh38] Chr15:27017539 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.683-12T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003790353] | Chr15:26567745 [GRCh38] Chr15:26812892 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.48G>A (p.Pro16=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003787758] | Chr15:26772915 [GRCh38] Chr15:27018062 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.1276A>C (p.Thr426Pro) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003780364] | Chr15:26547939 [GRCh38] Chr15:26793086 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.683-14T>C | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003790279] | Chr15:26567747 [GRCh38] Chr15:26812894 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.81-19C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003787056] | Chr15:26772791 [GRCh38] Chr15:27017938 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.683-11G>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003788422] | Chr15:26567744 [GRCh38] Chr15:26812891 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.173-10C>T | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003787665] | Chr15:26772479 [GRCh38] Chr15:27017626 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.231A>T (p.Glu77Asp) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003787788] | Chr15:26772411 [GRCh38] Chr15:27017558 [GRCh37] Chr15:15q12 |
uncertain significance |
NM_000814.6(GABRB3):c.303G>A (p.Gly101=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003790263] | Chr15:26621472 [GRCh38] Chr15:26866619 [GRCh37] Chr15:15q12 |
likely benign |
NM_000814.6(GABRB3):c.621G>A (p.Glu207=) | single nucleotide variant | Epilepsy, childhood absence, susceptibility to, 1 [RCV003787764] | Chr15:26580380 [GRCh38] Chr15:26825527 [GRCh37] Chr15:15q12 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
D15S97 |
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RH78433 |
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RH11160 |
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SHGC-82733 |
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SHGC-83616 |
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SHGC-82382 |
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D15S511 |
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GDB:194754 |
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GDB:304598 |
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GDB:304601 |
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GDB:304604 |
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GDB:304607 |
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SHGC-142906 |
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WI-15959 |
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GABRB3_1630 |
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STS-R43452 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 10 | 6 | 244 | 12 | 7 | 15 | 194 | 4 | 1542 | 25 | 22 | 87 | |||||
Low | 1671 | 666 | 979 | 164 | 124 | 127 | 1154 | 812 | 1960 | 271 | 999 | 1014 | 39 | 105 | 874 | 1 | |
Below cutoff | 694 | 2066 | 443 | 390 | 1108 | 266 | 2974 | 1356 | 211 | 80 | 361 | 477 | 132 | 1 | 1096 | 1903 | 3 |
RefSeq Transcripts | NG_012836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001191320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001191321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001278631 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_021912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_103801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011521428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054377668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC009878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC011196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC104569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK056018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK095011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK295167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL120032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW294342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC038837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE220174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE783170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB162957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD013894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD652458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR747353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA138788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB479831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DN994054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ534842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KX169265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L04311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC133495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC133496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M82919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000299267 ⟹ ENSP00000299267 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000311550 ⟹ ENSP00000308725 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000400188 ⟹ ENSP00000383049 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000541819 ⟹ ENSP00000442408 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000545868 ⟹ ENSP00000439169 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000554556 ⟹ ENSP00000451077 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000554722 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000555094 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000555632 ⟹ ENSP00000452041 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000556166 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000556636 ⟹ ENSP00000452159 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000557641 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000557765 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000621499 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000622697 ⟹ ENSP00000481004 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000628124 ⟹ ENSP00000486819 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000635832 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000635994 ⟹ ENSP00000489940 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000636466 ⟹ ENSP00000489768 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000636512 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000636690 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000637226 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000637293 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000637893 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638099 ⟹ ENSP00000490678 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638149 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_000814 ⟹ NP_000805 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001191320 ⟹ NP_001178249 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001191321 ⟹ NP_001178250 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001278631 ⟹ NP_001265560 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_021912 ⟹ NP_068712 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_103801 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011521428 ⟹ XP_011519730 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054377668 ⟹ XP_054233643 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_000805 | (Get FASTA) | NCBI Sequence Viewer |
NP_001178249 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001178250 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001265560 | (Get FASTA) | NCBI Sequence Viewer | |
NP_068712 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011519730 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054233643 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA52507 | (Get FASTA) | NCBI Sequence Viewer |
AAA52508 | (Get FASTA) | NCBI Sequence Viewer | |
AAA52511 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10641 | (Get FASTA) | NCBI Sequence Viewer | |
AHW56482 | (Get FASTA) | NCBI Sequence Viewer | |
ANN02865 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37715 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11997 | (Get FASTA) | NCBI Sequence Viewer | |
BAH13811 | (Get FASTA) | NCBI Sequence Viewer | |
EAW57653 | (Get FASTA) | NCBI Sequence Viewer | |
EAW57654 | (Get FASTA) | NCBI Sequence Viewer | |
EAW57655 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000299267 | ||
ENSP00000299267.4 | |||
ENSP00000308725 | |||
ENSP00000308725.5 | |||
ENSP00000383049 | |||
ENSP00000383049.3 | |||
ENSP00000439169.1 | |||
ENSP00000442408.2 | |||
ENSP00000451077.1 | |||
ENSP00000452041.1 | |||
ENSP00000452159.1 | |||
ENSP00000489768 | |||
ENSP00000489768.1 | |||
ENSP00000489940.1 | |||
ENSP00000490678.1 | |||
GenBank Protein | P28472 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_068712 ⟸ NM_021912 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | B2RCW8 (UniProtKB/TrEMBL), X5DQY4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_000805 ⟸ NM_000814 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q14352 (UniProtKB/Swiss-Prot), H7BYV8 (UniProtKB/Swiss-Prot), F5H3D2 (UniProtKB/Swiss-Prot), B7Z825 (UniProtKB/Swiss-Prot), B7Z2W1 (UniProtKB/Swiss-Prot), Q96FM5 (UniProtKB/Swiss-Prot), P28472 (UniProtKB/Swiss-Prot), A0A1B0GVW3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001178249 ⟸ NM_001191320 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A1B0GVW3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001178250 ⟸ NM_001191321 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A1B0GVW3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001265560 ⟸ NM_001278631 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A1B0GVW3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011519730 ⟸ XM_011521428 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A1B0GVW3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000452041 ⟸ ENST00000555632 |
RefSeq Acc Id: | ENSP00000442408 ⟸ ENST00000541819 |
RefSeq Acc Id: | ENSP00000452159 ⟸ ENST00000556636 |
RefSeq Acc Id: | ENSP00000489940 ⟸ ENST00000635994 |
RefSeq Acc Id: | ENSP00000489768 ⟸ ENST00000636466 |
RefSeq Acc Id: | ENSP00000481004 ⟸ ENST00000622697 |
RefSeq Acc Id: | ENSP00000439169 ⟸ ENST00000545868 |
RefSeq Acc Id: | ENSP00000490678 ⟸ ENST00000638099 |
RefSeq Acc Id: | ENSP00000383049 ⟸ ENST00000400188 |
RefSeq Acc Id: | ENSP00000299267 ⟸ ENST00000299267 |
RefSeq Acc Id: | ENSP00000486819 ⟸ ENST00000628124 |
RefSeq Acc Id: | ENSP00000308725 ⟸ ENST00000311550 |
RefSeq Acc Id: | ENSP00000451077 ⟸ ENST00000554556 |
RefSeq Acc Id: | XP_054233643 ⟸ XM_054377668 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A1B0GVW3 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P28472-F1-model_v2 | AlphaFold | P28472 | 1-473 | view protein structure |
RGD ID: | 6792356 | ||||||||
Promoter ID: | HG_KWN:20730 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | UC001ZBC.2 | ||||||||
Position: |
|
RGD ID: | 7228869 | ||||||||
Promoter ID: | EPDNEW_H20180 | ||||||||
Type: | initiation region | ||||||||
Name: | GABRB3_1 | ||||||||
Description: | gamma-aminobutyric acid type A receptor beta3 subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H20181 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7228873 | ||||||||
Promoter ID: | EPDNEW_H20181 | ||||||||
Type: | initiation region | ||||||||
Name: | GABRB3_2 | ||||||||
Description: | gamma-aminobutyric acid type A receptor beta3 subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H20180 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4083 | AgrOrtholog |
COSMIC | GABRB3 | COSMIC |
Ensembl Genes | ENSG00000166206 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000299267 | ENTREZGENE |
ENST00000299267.9 | UniProtKB/Swiss-Prot | |
ENST00000311550 | ENTREZGENE | |
ENST00000311550.10 | UniProtKB/Swiss-Prot | |
ENST00000400188 | ENTREZGENE | |
ENST00000400188.7 | UniProtKB/Swiss-Prot | |
ENST00000541819.6 | UniProtKB/TrEMBL | |
ENST00000545868.4 | UniProtKB/Swiss-Prot | |
ENST00000554556.5 | UniProtKB/TrEMBL | |
ENST00000555632.5 | UniProtKB/TrEMBL | |
ENST00000556166 | ENTREZGENE | |
ENST00000556636.5 | UniProtKB/TrEMBL | |
ENST00000635832 | ENTREZGENE | |
ENST00000635994.1 | UniProtKB/TrEMBL | |
ENST00000636466 | ENTREZGENE | |
ENST00000636466.1 | UniProtKB/Swiss-Prot | |
ENST00000638099.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.58.390 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.70.170.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
6.10.250.2810 | UniProtKB/TrEMBL | |
GTEx | ENSG00000166206 | GTEx |
HGNC ID | HGNC:4083 | ENTREZGENE |
Human Proteome Map | GABRB3 | Human Proteome Map |
InterPro | GABAA/Glycine_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GABAAb_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neur_chan_lig-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neur_chan_lig-bd_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neur_channel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neuro-gated_channel_TM_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neuro_actylchol_rec | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neurotrans-gated_channel_TM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Neurotransmitter_ion_chnl_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2562 | UniProtKB/Swiss-Prot |
NCBI Gene | 2562 | ENTREZGENE |
OMIM | 137192 | OMIM |
PANTHER | GAMMA-AMINOBUTYRIC ACID RECEPTOR SUBUNIT BETA-3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR18945 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Neur_chan_LBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Neur_chan_memb | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA28497 | PharmGKB |
PRINTS | GABAARBETA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GABAARECEPTR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NRIONCHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | NEUROTR_ION_CHANNEL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF63712 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF90112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A193AUE8_HUMAN | UniProtKB/TrEMBL |
A0A1B0GU30_HUMAN | UniProtKB/TrEMBL | |
A0A1B0GVW3 | ENTREZGENE, UniProtKB/TrEMBL | |
B2RCW8 | ENTREZGENE, UniProtKB/TrEMBL | |
B7Z2W1 | ENTREZGENE | |
B7Z825 | ENTREZGENE | |
F5H3D2 | ENTREZGENE | |
F5H7N0_HUMAN | UniProtKB/TrEMBL | |
G3V373_HUMAN | UniProtKB/TrEMBL | |
G3V4W7_HUMAN | UniProtKB/TrEMBL | |
GBRB3_HUMAN | UniProtKB/Swiss-Prot | |
H0YJU6_HUMAN | UniProtKB/TrEMBL | |
H7BYV8 | ENTREZGENE | |
L8E9G0_HUMAN | UniProtKB/TrEMBL | |
P28472 | ENTREZGENE | |
Q14352 | ENTREZGENE | |
Q96FM5 | ENTREZGENE | |
X5DQY4 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | B7Z2W1 | UniProtKB/Swiss-Prot |
B7Z825 | UniProtKB/Swiss-Prot | |
F5H3D2 | UniProtKB/Swiss-Prot | |
H7BYV8 | UniProtKB/Swiss-Prot | |
Q14352 | UniProtKB/Swiss-Prot | |
Q96FM5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-12-03 | GABRB3 | gamma-aminobutyric acid type A receptor subunit beta3 | GABRB3 | gamma-aminobutyric acid type A receptor beta3 subunit | Symbol and/or name change | 5135510 | APPROVED |
2016-02-10 | GABRB3 | gamma-aminobutyric acid type A receptor beta3 subunit | gamma-aminobutyric acid (GABA) A receptor, beta 3 | Symbol and/or name change | 5135510 | APPROVED |