GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 |
copy number gain |
See cases [RCV000050683] |
Chr4:44356201..62245882 [GRCh38] Chr4:44358218..63111600 [GRCh37] Chr4:44052975..62794195 [NCBI36] Chr4:4p13-q13.1 |
pathogenic |
GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3 |
copy number gain |
See cases [RCV000051770] |
Chr4:44577678..49081273 [GRCh38] Chr4:44579695..49083290 [GRCh37] Chr4:44274452..48778047 [NCBI36] Chr4:4p13-11 |
pathogenic |
NM_000812.3(GABRB1):c.798G>A (p.Trp266Ter) |
single nucleotide variant |
Malignant melanoma [RCV000066437] |
Chr4:47403674 [GRCh38] Chr4:47405691 [GRCh37] Chr4:47100448 [NCBI36] Chr4:4p12 |
not provided |
NM_000812.3(GABRB1):c.241-20209A>C |
single nucleotide variant |
Lung cancer [RCV000094852] |
Chr4:47141040 [GRCh38] Chr4:47143057 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.3(GABRB1):c.462-50538G>C |
single nucleotide variant |
Lung cancer [RCV000094853] |
Chr4:47269589 [GRCh38] Chr4:47271606 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.3(GABRB1):c.545-11480T>C |
single nucleotide variant |
Lung cancer [RCV000094854] |
Chr4:47391838 [GRCh38] Chr4:47393855 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV000256298] |
Chr4:47403613 [GRCh38] Chr4:47405630 [GRCh37] Chr4:4p12 |
pathogenic |
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV000256350] |
Chr4:47406706 [GRCh38] Chr4:47408723 [GRCh37] Chr4:4p12 |
pathogenic|likely pathogenic |
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 |
copy number gain |
See cases [RCV000134946] |
Chr4:40496476..49579850 [GRCh38] Chr4:40498493..49581867 [GRCh37] Chr4:40193250..49276624 [NCBI36] Chr4:4p14-11 |
pathogenic |
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 |
copy number gain |
See cases [RCV000137261] |
Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12 |
pathogenic |
GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3 |
copy number gain |
See cases [RCV000138576] |
Chr4:47383124..48851860 [GRCh38] Chr4:47385141..48853877 [GRCh37] Chr4:47079898..48548634 [NCBI36] Chr4:4p12-11 |
uncertain significance |
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 |
copy number gain |
See cases [RCV000240190] |
Chr4:38532827..49064044 [GRCh37] Chr4:4p14-11 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 |
copy number gain |
See cases [RCV000240562] |
Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not specified [RCV003986479] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
See cases [RCV002292704] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 |
copy number gain |
See cases [RCV000446451] |
Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV000496103] |
Chr4:47031990 [GRCh38] Chr4:47034007 [GRCh37] Chr4:4p12 |
likely pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 |
copy number gain |
See cases [RCV000511193] |
Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1 |
pathogenic |
NM_000812.4(GABRB1):c.1263C>G (p.His421Gln) |
single nucleotide variant |
GABRB1-related disorder [RCV003935348]|not provided [RCV000514482] |
Chr4:47425856 [GRCh38] Chr4:47427873 [GRCh37] Chr4:4p12 |
benign|likely benign |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_000812.4(GABRB1):c.544+3G>A |
single nucleotide variant |
not provided [RCV000658996] |
Chr4:47320212 [GRCh38] Chr4:47322229 [GRCh37] Chr4:4p12 |
uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not provided [RCV000682363] |
Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 |
copy number gain |
not provided [RCV000743201] |
Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_000812.4(GABRB1):c.1299C>A (p.Ala433=) |
single nucleotide variant |
not provided [RCV000943527] |
Chr4:47425892 [GRCh38] Chr4:47427909 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.1236G>A (p.Glu412=) |
single nucleotide variant |
not provided [RCV000925204] |
Chr4:47425829 [GRCh38] Chr4:47427846 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.774A>T (p.Thr258=) |
single nucleotide variant |
GABRB1-related disorder [RCV003940394]|not provided [RCV000879966] |
Chr4:47403650 [GRCh38] Chr4:47405667 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1335T>C (p.Asp445=) |
single nucleotide variant |
not provided [RCV000914435] |
Chr4:47425928 [GRCh38] Chr4:47427945 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.687G>A (p.Ala229=) |
single nucleotide variant |
not provided [RCV000903738] |
Chr4:47403563 [GRCh38] Chr4:47405580 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.835+6A>G |
single nucleotide variant |
not provided [RCV000903739] |
Chr4:47403717 [GRCh38] Chr4:47405734 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1033G>A (p.Asp345Asn) |
single nucleotide variant |
not provided [RCV000886127] |
Chr4:47406879 [GRCh38] Chr4:47408896 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.987C>T (p.Tyr329=) |
single nucleotide variant |
GABRB1-related disorder [RCV003913258]|not provided [RCV000948677] |
Chr4:47406833 [GRCh38] Chr4:47408850 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.414T>C (p.Asn138=) |
single nucleotide variant |
GABRB1-related disorder [RCV003925782]|not provided [RCV000925911] |
Chr4:47161422 [GRCh38] Chr4:47163439 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.879C>T (p.Leu293=) |
single nucleotide variant |
GABRB1-related disorder [RCV003918461]|not provided [RCV000971273] |
Chr4:47406725 [GRCh38] Chr4:47408742 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV000790968] |
Chr4:47161315 [GRCh38] Chr4:47163332 [GRCh37] Chr4:4p12 |
uncertain significance |
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3 |
copy number gain |
Autism [RCV000993707] |
Chr4:45868775..48273513 [GRCh37] Chr4:4p12-11 |
likely pathogenic |
GRCh37/hg19 4p12(chr4:47216804-47472305)x3 |
copy number gain |
not provided [RCV001005538] |
Chr4:47216804..47472305 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.52A>G (p.Met18Val) |
single nucleotide variant |
GABRB1-related disorder [RCV003900930]|not provided [RCV003104414]|not specified [RCV004244498] |
Chr4:47031703 [GRCh38] Chr4:47033720 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.80+24_80+25del |
deletion |
Developmental and epileptic encephalopathy, 45 [RCV001702039]|not specified [RCV004594535] |
Chr4:47031754..47031755 [GRCh38] Chr4:47033771..47033772 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.508= (p.Leu170=) |
variation |
not provided [RCV000953519] |
Chr4:47320173 [GRCh38] Chr4:47322190 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.1329G>A (p.Leu443=) |
single nucleotide variant |
not provided [RCV000954623] |
Chr4:47425922 [GRCh38] Chr4:47427939 [GRCh37] Chr4:4p12 |
benign|likely benign |
NM_000812.4(GABRB1):c.1251C>T (p.Ala417=) |
single nucleotide variant |
not provided [RCV000931348] |
Chr4:47425844 [GRCh38] Chr4:47427861 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.237T>C (p.Asn79=) |
single nucleotide variant |
not provided [RCV000940570] |
Chr4:47032481 [GRCh38] Chr4:47034498 [GRCh37] Chr4:4p12 |
likely benign |
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 |
copy number gain |
See cases [RCV001194594] |
Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV001262679] |
Chr4:47406700 [GRCh38] Chr4:47408717 [GRCh37] Chr4:4p12 |
likely pathogenic |
NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV001264781] |
Chr4:47403616 [GRCh38] Chr4:47405633 [GRCh37] Chr4:4p12 |
pathogenic |
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV001336995] |
Chr4:47403402 [GRCh38] Chr4:47405419 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1214G>A (p.Arg405His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV004799569]|not provided [RCV001871634] |
Chr4:47425807 [GRCh38] Chr4:47427824 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.846A>G (p.Thr282=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV001702245]|not provided [RCV001695542]|not specified [RCV004594524] |
Chr4:47406692 [GRCh38] Chr4:47408709 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.1277A>G (p.Lys426Arg) |
single nucleotide variant |
GABRB1-related disorder [RCV003921054]|not provided [RCV001501355] |
Chr4:47425870 [GRCh38] Chr4:47427887 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV001728044]|GABRB1-related disorder [RCV003401660]|not provided [RCV002539777] |
Chr4:47403633 [GRCh38] Chr4:47405650 [GRCh37] Chr4:4p12 |
likely pathogenic|uncertain significance |
NM_000812.4(GABRB1):c.1270C>T (p.Pro424Ser) |
single nucleotide variant |
not provided [RCV001914546] |
Chr4:47425863 [GRCh38] Chr4:47427880 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1208A>G (p.Gln403Arg) |
single nucleotide variant |
not provided [RCV001971414]|not specified [RCV004042334] |
Chr4:47425801 [GRCh38] Chr4:47427818 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.299C>T (p.Ser100Phe) |
single nucleotide variant |
not provided [RCV002009245] |
Chr4:47161307 [GRCh38] Chr4:47163324 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1417G>A (p.Val473Ile) |
single nucleotide variant |
not provided [RCV001863548] |
Chr4:47426010 [GRCh38] Chr4:47428027 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1399G>A (p.Val467Ile) |
single nucleotide variant |
not provided [RCV001985882] |
Chr4:47425992 [GRCh38] Chr4:47428009 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.776T>C (p.Ile259Thr) |
single nucleotide variant |
not provided [RCV001872284] |
Chr4:47403652 [GRCh38] Chr4:47405669 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.835+5T>G |
single nucleotide variant |
not provided [RCV002044230] |
Chr4:47403716 [GRCh38] Chr4:47405733 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.163G>A (p.Asp55Asn) |
single nucleotide variant |
not provided [RCV001949145]|not specified [RCV004043053] |
Chr4:47031996 [GRCh38] Chr4:47034013 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.208G>T (p.Ala70Ser) |
single nucleotide variant |
not provided [RCV001873839] |
Chr4:47032452 [GRCh38] Chr4:47034469 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.173-5G>A |
single nucleotide variant |
not provided [RCV002002752] |
Chr4:47032412 [GRCh38] Chr4:47034429 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.640G>A (p.Val214Ile) |
single nucleotide variant |
not provided [RCV001890535] |
Chr4:47403413 [GRCh38] Chr4:47405430 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.967G>T (p.Glu323Ter) |
single nucleotide variant |
not provided [RCV001893386] |
Chr4:47406813 [GRCh38] Chr4:47408830 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.46C>A (p.Pro16Thr) |
single nucleotide variant |
not provided [RCV001871155] |
Chr4:47031697 [GRCh38] Chr4:47033714 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1099A>G (p.Ile367Val) |
single nucleotide variant |
not provided [RCV001912270] |
Chr4:47425692 [GRCh38] Chr4:47427709 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.17A>G (p.Asn6Ser) |
single nucleotide variant |
not provided [RCV002042912] |
Chr4:47031668 [GRCh38] Chr4:47033685 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.162G>A (p.Pro54=) |
single nucleotide variant |
not provided [RCV002040068] |
Chr4:47031995 [GRCh38] Chr4:47034012 [GRCh37] Chr4:4p12 |
likely benign|uncertain significance |
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV003134181]|not provided [RCV001912265] |
Chr4:47425735 [GRCh38] Chr4:47427752 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.586G>A (p.Gly196Arg) |
single nucleotide variant |
not provided [RCV002044440] |
Chr4:47403359 [GRCh38] Chr4:47405376 [GRCh37] Chr4:4p12 |
uncertain significance |
NC_000004.11:g.(?_46252325)_(47163506_?)del |
deletion |
not provided [RCV001967602] |
Chr4:46252325..47163506 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.240+3G>A |
single nucleotide variant |
not provided [RCV001969605] |
Chr4:47032487 [GRCh38] Chr4:47034504 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1242C>T (p.Tyr414=) |
single nucleotide variant |
not provided [RCV001943175] |
Chr4:47425835 [GRCh38] Chr4:47427852 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1054A>G (p.Asn352Asp) |
single nucleotide variant |
not provided [RCV001919858] |
Chr4:47406900 [GRCh38] Chr4:47408917 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.416G>A (p.Arg139Gln) |
single nucleotide variant |
not provided [RCV001906495] |
Chr4:47161424 [GRCh38] Chr4:47163441 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1064A>G (p.Glu355Gly) |
single nucleotide variant |
not provided [RCV001934789] |
Chr4:47406910 [GRCh38] Chr4:47408927 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.406G>A (p.Val136Met) |
single nucleotide variant |
not provided [RCV001936349]|not specified [RCV004041855] |
Chr4:47161414 [GRCh38] Chr4:47163431 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1247G>A (p.Arg416His) |
single nucleotide variant |
not provided [RCV002010264] |
Chr4:47425840 [GRCh38] Chr4:47427857 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1003G>T (p.Gly335Cys) |
single nucleotide variant |
not provided [RCV001880987] |
Chr4:47406849 [GRCh38] Chr4:47408866 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.470C>G (p.Thr157Ser) |
single nucleotide variant |
not provided [RCV002011792] |
Chr4:47320135 [GRCh38] Chr4:47322152 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.91C>T (p.Pro31Ser) |
single nucleotide variant |
not provided [RCV001991496] |
Chr4:47031924 [GRCh38] Chr4:47033941 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1243G>A (p.Gly415Arg) |
single nucleotide variant |
not provided [RCV001921951] |
Chr4:47425836 [GRCh38] Chr4:47427853 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.172+6G>T |
single nucleotide variant |
not provided [RCV001975709] |
Chr4:47032011 [GRCh38] Chr4:47034028 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.172+3A>C |
single nucleotide variant |
not provided [RCV001915767] |
Chr4:47032008 [GRCh38] Chr4:47034025 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1232G>T (p.Arg411Leu) |
single nucleotide variant |
not provided [RCV001930421] |
Chr4:47425825 [GRCh38] Chr4:47427842 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1033G>C (p.Asp345His) |
single nucleotide variant |
not provided [RCV002028890] |
Chr4:47406879 [GRCh38] Chr4:47408896 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1123C>T (p.Arg375Trp) |
single nucleotide variant |
not provided [RCV002029030] |
Chr4:47425716 [GRCh38] Chr4:47427733 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.581A>G (p.Asn194Ser) |
single nucleotide variant |
not provided [RCV001904148] |
Chr4:47403354 [GRCh38] Chr4:47405371 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.382A>C (p.Lys128Gln) |
single nucleotide variant |
not provided [RCV002018228] |
Chr4:47161390 [GRCh38] Chr4:47163407 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.81-3T>C |
single nucleotide variant |
not provided [RCV002013173] |
Chr4:47031911 [GRCh38] Chr4:47033928 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.713G>A (p.Arg238His) |
single nucleotide variant |
not provided [RCV001897656] |
Chr4:47403589 [GRCh38] Chr4:47405606 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1198G>T (p.Ala400Ser) |
single nucleotide variant |
not provided [RCV001979744] |
Chr4:47425791 [GRCh38] Chr4:47427808 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1231C>A (p.Arg411Ser) |
single nucleotide variant |
not provided [RCV001866935]|not specified [RCV004039024] |
Chr4:47425824 [GRCh38] Chr4:47427841 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.646T>C (p.Tyr216His) |
single nucleotide variant |
not provided [RCV001952726] |
Chr4:47403419 [GRCh38] Chr4:47405436 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1333G>A (p.Asp445Asn) |
single nucleotide variant |
not provided [RCV001997960] |
Chr4:47425926 [GRCh38] Chr4:47427943 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.86A>G (p.Asn29Ser) |
single nucleotide variant |
not provided [RCV002051400]|not specified [RCV004038877] |
Chr4:47031919 [GRCh38] Chr4:47033936 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.136A>G (p.Lys46Glu) |
single nucleotide variant |
not provided [RCV001954060] |
Chr4:47031969 [GRCh38] Chr4:47033986 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1412A>G (p.Tyr471Cys) |
single nucleotide variant |
not provided [RCV001934451] |
Chr4:47426005 [GRCh38] Chr4:47428022 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.598_601dup (p.Thr201fs) |
duplication |
not provided [RCV001883026] |
Chr4:47403368..47403369 [GRCh38] Chr4:47405385..47405386 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.537C>A (p.Ile179=) |
single nucleotide variant |
not provided [RCV002073462]|not specified [RCV004594620] |
Chr4:47320202 [GRCh38] Chr4:47322219 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.441A>G (p.Gly147=) |
single nucleotide variant |
not provided [RCV002168380] |
Chr4:47161449 [GRCh38] Chr4:47163466 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.210C>T (p.Ala70=) |
single nucleotide variant |
not provided [RCV002185994] |
Chr4:47032454 [GRCh38] Chr4:47034471 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.315C>T (p.Asn105=) |
single nucleotide variant |
not provided [RCV002190602] |
Chr4:47161323 [GRCh38] Chr4:47163340 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.545-13T>C |
single nucleotide variant |
not provided [RCV002127474] |
Chr4:47403305 [GRCh38] Chr4:47405322 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.558T>G (p.Thr186=) |
single nucleotide variant |
not provided [RCV002205057] |
Chr4:47403331 [GRCh38] Chr4:47405348 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.80+24_80+29del |
deletion |
not provided [RCV002191507] |
Chr4:47031751..47031756 [GRCh38] Chr4:47033768..47033773 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.461+9del |
deletion |
not provided [RCV002209166] |
Chr4:47161478 [GRCh38] Chr4:47163495 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.80+20TC[3] |
microsatellite |
not provided [RCV002127320] |
Chr4:47031750..47031751 [GRCh38] Chr4:47033767..47033768 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.468A>C (p.Thr156=) |
single nucleotide variant |
not provided [RCV002191393] |
Chr4:47320133 [GRCh38] Chr4:47322150 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.544+13G>A |
single nucleotide variant |
not provided [RCV002169712] |
Chr4:47320222 [GRCh38] Chr4:47322239 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.897G>A (p.Lys299=) |
single nucleotide variant |
not provided [RCV002146861] |
Chr4:47406743 [GRCh38] Chr4:47408760 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.174G>T (p.Gly58=) |
single nucleotide variant |
not provided [RCV002112148] |
Chr4:47032418 [GRCh38] Chr4:47034435 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.462-20T>C |
single nucleotide variant |
not provided [RCV002075988] |
Chr4:47320107 [GRCh38] Chr4:47322124 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.173-4G>A |
single nucleotide variant |
not provided [RCV002185025] |
Chr4:47032413 [GRCh38] Chr4:47034430 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.173-13A>T |
single nucleotide variant |
not provided [RCV002107524] |
Chr4:47032404 [GRCh38] Chr4:47034421 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.792T>C (p.Ser264=) |
single nucleotide variant |
not provided [RCV002190048] |
Chr4:47403668 [GRCh38] Chr4:47405685 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.701C>G (p.Ser234Ter) |
single nucleotide variant |
not specified [RCV002247850] |
Chr4:47403577 [GRCh38] Chr4:47405594 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.408G>A (p.Val136=) |
single nucleotide variant |
GABRB1-related disorder [RCV003948887]|not provided [RCV002087494] |
Chr4:47161416 [GRCh38] Chr4:47163433 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1320C>A (p.Ile440=) |
single nucleotide variant |
not provided [RCV002194154] |
Chr4:47425913 [GRCh38] Chr4:47427930 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.759T>G (p.Pro253=) |
single nucleotide variant |
not provided [RCV002116500] |
Chr4:47403635 [GRCh38] Chr4:47405652 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.241-11T>G |
single nucleotide variant |
not provided [RCV002165844] |
Chr4:47161238 [GRCh38] Chr4:47163255 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.117G>A (p.Glu39=) |
single nucleotide variant |
not provided [RCV002171530] |
Chr4:47031950 [GRCh38] Chr4:47033967 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.80+15T>C |
single nucleotide variant |
not provided [RCV002188517] |
Chr4:47031746 [GRCh38] Chr4:47033763 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.849G>A (p.Val283=) |
single nucleotide variant |
not provided [RCV002087157] |
Chr4:47406695 [GRCh38] Chr4:47408712 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1080+19C>G |
single nucleotide variant |
not provided [RCV002079870] |
Chr4:47406945 [GRCh38] Chr4:47408962 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.990C>A (p.Ile330=) |
single nucleotide variant |
not provided [RCV002093498] |
Chr4:47406836 [GRCh38] Chr4:47408853 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.246T>C (p.Tyr82=) |
single nucleotide variant |
not provided [RCV002196013] |
Chr4:47161254 [GRCh38] Chr4:47163271 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1041T>G (p.Ser347Arg) |
single nucleotide variant |
not provided [RCV002115814]|not specified [RCV004616996] |
Chr4:47406887 [GRCh38] Chr4:47408904 [GRCh37] Chr4:4p12 |
benign|uncertain significance |
NM_000812.4(GABRB1):c.462-9_462-6del |
microsatellite |
not provided [RCV002172492] |
Chr4:47320116..47320119 [GRCh38] Chr4:47322133..47322136 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.80+24_80+33del |
deletion |
not provided [RCV002128765] |
Chr4:47031751..47031760 [GRCh38] Chr4:47033768..47033777 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.81-13T>A |
single nucleotide variant |
not provided [RCV002079961] |
Chr4:47031901 [GRCh38] Chr4:47033918 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1395T>C (p.Asn465=) |
single nucleotide variant |
not provided [RCV002170601] |
Chr4:47425988 [GRCh38] Chr4:47428005 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.172+19dup |
duplication |
not provided [RCV002115916] |
Chr4:47032018..47032019 [GRCh38] Chr4:47034035..47034036 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.1107C>T (p.Leu369=) |
single nucleotide variant |
not provided [RCV002116634] |
Chr4:47425700 [GRCh38] Chr4:47427717 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1299C>T (p.Ala433=) |
single nucleotide variant |
not provided [RCV002075716] |
Chr4:47425892 [GRCh38] Chr4:47427909 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.461+18G>C |
single nucleotide variant |
not provided [RCV002212118] |
Chr4:47161487 [GRCh38] Chr4:47163504 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.828C>T (p.Val276=) |
single nucleotide variant |
not provided [RCV002131768] |
Chr4:47403704 [GRCh38] Chr4:47405721 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1245G>T (p.Gly415=) |
single nucleotide variant |
not provided [RCV002082976] |
Chr4:47425838 [GRCh38] Chr4:47427855 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.876C>T (p.His292=) |
single nucleotide variant |
not provided [RCV002218262] |
Chr4:47406722 [GRCh38] Chr4:47408739 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.836-9C>G |
single nucleotide variant |
not provided [RCV002201428] |
Chr4:47406673 [GRCh38] Chr4:47408690 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.508T>C (p.Leu170=) |
single nucleotide variant |
not provided [RCV002135654]|not specified [RCV004594623] |
Chr4:47320173 [GRCh38] Chr4:47322190 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.354A>C (p.Val118=) |
single nucleotide variant |
not provided [RCV002102280] |
Chr4:47161362 [GRCh38] Chr4:47163379 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1080+20T>C |
single nucleotide variant |
not provided [RCV002180492] |
Chr4:47406946 [GRCh38] Chr4:47408963 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1149G>C (p.Val383=) |
single nucleotide variant |
not provided [RCV002083549] |
Chr4:47425742 [GRCh38] Chr4:47427759 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.80+24_80+31del |
deletion |
not provided [RCV002121580] |
Chr4:47031751..47031758 [GRCh38] Chr4:47033768..47033775 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.240+7G>A |
single nucleotide variant |
not provided [RCV002198167] |
Chr4:47032491 [GRCh38] Chr4:47034508 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.172+17T>C |
single nucleotide variant |
not provided [RCV002154532] |
Chr4:47032022 [GRCh38] Chr4:47034039 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.835+20G>T |
single nucleotide variant |
not provided [RCV002163845] |
Chr4:47403731 [GRCh38] Chr4:47405748 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.462-4T>C |
single nucleotide variant |
not provided [RCV002163902] |
Chr4:47320123 [GRCh38] Chr4:47322140 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.300T>C (p.Ser100=) |
single nucleotide variant |
not provided [RCV002179923] |
Chr4:47161308 [GRCh38] Chr4:47163325 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.240+10C>T |
single nucleotide variant |
not provided [RCV002120458] |
Chr4:47032494 [GRCh38] Chr4:47034511 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.597A>G (p.Ala199=) |
single nucleotide variant |
not provided [RCV002204629] |
Chr4:47403370 [GRCh38] Chr4:47405387 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1092C>T (p.His364=) |
single nucleotide variant |
not provided [RCV002162564] |
Chr4:47425685 [GRCh38] Chr4:47427702 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.154T>C (p.Leu52=) |
single nucleotide variant |
not provided [RCV002156998] |
Chr4:47031987 [GRCh38] Chr4:47034004 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.726C>T (p.Asn242=) |
single nucleotide variant |
not provided [RCV002183978] |
Chr4:47403602 [GRCh38] Chr4:47405619 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1137T>C (p.Ser379=) |
single nucleotide variant |
not provided [RCV002155795] |
Chr4:47425730 [GRCh38] Chr4:47427747 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.80+22_80+23del |
microsatellite |
not provided [RCV002177315] |
Chr4:47031751..47031752 [GRCh38] Chr4:47033768..47033769 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.417A>G (p.Arg139=) |
single nucleotide variant |
not provided [RCV002217017] |
Chr4:47161425 [GRCh38] Chr4:47163442 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.836-20G>A |
single nucleotide variant |
not provided [RCV002154557] |
Chr4:47406662 [GRCh38] Chr4:47408679 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.80+20TC[4] |
microsatellite |
not provided [RCV002141090] |
Chr4:47031750..47031751 [GRCh38] Chr4:47033767..47033768 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.81-8C>T |
single nucleotide variant |
not provided [RCV002200481] |
Chr4:47031906 [GRCh38] Chr4:47033923 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.172+13C>G |
single nucleotide variant |
not provided [RCV002179928] |
Chr4:47032018 [GRCh38] Chr4:47034035 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.873C>T (p.Thr291=) |
single nucleotide variant |
not provided [RCV002135531] |
Chr4:47406719 [GRCh38] Chr4:47408736 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.462-5A>G |
single nucleotide variant |
GABRB1-related disorder [RCV003923505]|not provided [RCV002199952] |
Chr4:47320122 [GRCh38] Chr4:47322139 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1260G>A (p.Arg420=) |
single nucleotide variant |
not provided [RCV002121660] |
Chr4:47425853 [GRCh38] Chr4:47427870 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.173-13A>G |
single nucleotide variant |
not provided [RCV002123615] |
Chr4:47032404 [GRCh38] Chr4:47034421 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.975C>T (p.Ala325=) |
single nucleotide variant |
not provided [RCV002118089] |
Chr4:47406821 [GRCh38] Chr4:47408838 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.80+14G>C |
single nucleotide variant |
not provided [RCV002183690] |
Chr4:47031745 [GRCh38] Chr4:47033762 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.240+13C>T |
single nucleotide variant |
not provided [RCV002138392] |
Chr4:47032497 [GRCh38] Chr4:47034514 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.60C>T (p.Thr20=) |
single nucleotide variant |
not provided [RCV002119001] |
Chr4:47031711 [GRCh38] Chr4:47033728 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.545-14T>C |
single nucleotide variant |
not provided [RCV002184635] |
Chr4:47403304 [GRCh38] Chr4:47405321 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1187C>T (p.Ser396Phe) |
single nucleotide variant |
not provided [RCV003114771] |
Chr4:47425780 [GRCh38] Chr4:47427797 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1346T>C (p.Ile449Thr) |
single nucleotide variant |
not provided [RCV003118988] |
Chr4:47425939 [GRCh38] Chr4:47427956 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1363A>C (p.Met455Leu) |
single nucleotide variant |
not provided [RCV004778174] |
Chr4:47425956 [GRCh38] Chr4:47427973 [GRCh37] Chr4:4p12 |
uncertain significance |
NC_000004.11:g.(?_47322124)_(47428035_?)dup |
duplication |
not provided [RCV003105338] |
Chr4:47322124..47428035 [GRCh37] Chr4:4p12 |
uncertain significance |
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 |
copy number gain |
FETAL DEMISE [RCV002282978] |
Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV003883195]|not provided [RCV002283026] |
Chr4:47406744 [GRCh38] Chr4:47408761 [GRCh37] Chr4:4p12 |
likely pathogenic|uncertain significance |
NM_000812.4(GABRB1):c.7A>G (p.Thr3Ala) |
single nucleotide variant |
not specified [RCV004310170] |
Chr4:47031658 [GRCh38] Chr4:47033675 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV002471510] |
Chr4:47425836 [GRCh38] Chr4:47427853 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1112C>G (p.Thr371Ser) |
single nucleotide variant |
not provided [RCV002304085] |
Chr4:47425705 [GRCh38] Chr4:47427722 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.842C>T (p.Thr281Met) |
single nucleotide variant |
not provided [RCV002305956] |
Chr4:47406688 [GRCh38] Chr4:47408705 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.862A>G (p.Thr288Ala) |
single nucleotide variant |
not provided [RCV002298062] |
Chr4:47406708 [GRCh38] Chr4:47408725 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.544+17G>A |
single nucleotide variant |
not provided [RCV003012382] |
Chr4:47320226 [GRCh38] Chr4:47322243 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1153A>C (p.Thr385Pro) |
single nucleotide variant |
not provided [RCV002686047] |
Chr4:47425746 [GRCh38] Chr4:47427763 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.162G>C (p.Pro54=) |
single nucleotide variant |
not provided [RCV003012142] |
Chr4:47031995 [GRCh38] Chr4:47034012 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1301C>T (p.Ser434Phe) |
single nucleotide variant |
not provided [RCV003017748] |
Chr4:47425894 [GRCh38] Chr4:47427911 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1047T>C (p.Asn349=) |
single nucleotide variant |
not provided [RCV002904604] |
Chr4:47406893 [GRCh38] Chr4:47408910 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1281G>A (p.Gly427=) |
single nucleotide variant |
not provided [RCV003011669] |
Chr4:47425874 [GRCh38] Chr4:47427891 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.272C>T (p.Ser91Phe) |
single nucleotide variant |
not provided [RCV002690389] |
Chr4:47161280 [GRCh38] Chr4:47163297 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.91C>A (p.Pro31Thr) |
single nucleotide variant |
not provided [RCV002995773] |
Chr4:47031924 [GRCh38] Chr4:47033941 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.305T>C (p.Ile102Thr) |
single nucleotide variant |
not provided [RCV002842238] |
Chr4:47161313 [GRCh38] Chr4:47163330 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.37C>T (p.Leu13Phe) |
single nucleotide variant |
not provided [RCV002686163] |
Chr4:47031688 [GRCh38] Chr4:47033705 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.729T>C (p.Ile243=) |
single nucleotide variant |
not provided [RCV002994037] |
Chr4:47403605 [GRCh38] Chr4:47405622 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.172+20C>A |
single nucleotide variant |
not provided [RCV003014393]|not specified [RCV004700887] |
Chr4:47032025 [GRCh38] Chr4:47034042 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.173-16C>T |
single nucleotide variant |
not provided [RCV002904514] |
Chr4:47032401 [GRCh38] Chr4:47034418 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.980T>A (p.Val327Glu) |
single nucleotide variant |
not provided [RCV002991624] |
Chr4:47406826 [GRCh38] Chr4:47408843 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.917T>A (p.Ile306Asn) |
single nucleotide variant |
not provided [RCV003013942] |
Chr4:47406763 [GRCh38] Chr4:47408780 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.402C>G (p.Val134=) |
single nucleotide variant |
not provided [RCV002623071] |
Chr4:47161410 [GRCh38] Chr4:47163427 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1164C>T (p.Ser388=) |
single nucleotide variant |
not provided [RCV002618940] |
Chr4:47425757 [GRCh38] Chr4:47427774 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1264G>A (p.Gly422Arg) |
single nucleotide variant |
not provided [RCV002927854] |
Chr4:47425857 [GRCh38] Chr4:47427874 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1241A>G (p.Tyr414Cys) |
single nucleotide variant |
not provided [RCV002658627]|not specified [RCV004066741] |
Chr4:47425834 [GRCh38] Chr4:47427851 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.643G>A (p.Asp215Asn) |
single nucleotide variant |
not provided [RCV002796838] |
Chr4:47403416 [GRCh38] Chr4:47405433 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1080+7T>C |
single nucleotide variant |
not provided [RCV003054229] |
Chr4:47406933 [GRCh38] Chr4:47408950 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1301C>G (p.Ser434Cys) |
single nucleotide variant |
not provided [RCV002846329] |
Chr4:47425894 [GRCh38] Chr4:47427911 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.236A>G (p.Asn79Ser) |
single nucleotide variant |
not provided [RCV002910170] |
Chr4:47032480 [GRCh38] Chr4:47034497 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.444A>G (p.Thr148=) |
single nucleotide variant |
not provided [RCV003053998] |
Chr4:47161452 [GRCh38] Chr4:47163469 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.313A>G (p.Asn105Asp) |
single nucleotide variant |
not provided [RCV002820911] |
Chr4:47161321 [GRCh38] Chr4:47163338 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1239C>A (p.Ala413=) |
single nucleotide variant |
not provided [RCV002820955] |
Chr4:47425832 [GRCh38] Chr4:47427849 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.13C>G (p.Gln5Glu) |
single nucleotide variant |
not provided [RCV002948719] |
Chr4:47031664 [GRCh38] Chr4:47033681 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.26G>C (p.Ser9Thr) |
single nucleotide variant |
not provided [RCV002638752] |
Chr4:47031677 [GRCh38] Chr4:47033694 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1246C>T (p.Arg416Cys) |
single nucleotide variant |
not provided [RCV002735111] |
Chr4:47425839 [GRCh38] Chr4:47427856 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.386C>G (p.Ser129Ter) |
single nucleotide variant |
not provided [RCV003035806] |
Chr4:47161394 [GRCh38] Chr4:47163411 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.173-8C>G |
single nucleotide variant |
not provided [RCV002926871] |
Chr4:47032409 [GRCh38] Chr4:47034426 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.241-14T>C |
single nucleotide variant |
not provided [RCV002824399] |
Chr4:47161235 [GRCh38] Chr4:47163252 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1269A>G (p.Val423=) |
single nucleotide variant |
not provided [RCV002636812] |
Chr4:47425862 [GRCh38] Chr4:47427879 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.1380C>A (p.Thr460=) |
single nucleotide variant |
not provided [RCV002785436] |
Chr4:47425973 [GRCh38] Chr4:47427990 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1159G>A (p.Val387Met) |
single nucleotide variant |
not provided [RCV002927493] |
Chr4:47425752 [GRCh38] Chr4:47427769 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.180C>G (p.Pro60=) |
single nucleotide variant |
not provided [RCV003059128] |
Chr4:47032424 [GRCh38] Chr4:47034441 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1108A>G (p.Ser370Gly) |
single nucleotide variant |
not provided [RCV002710831] |
Chr4:47425701 [GRCh38] Chr4:47427718 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.462-4T>A |
single nucleotide variant |
not provided [RCV002830023] |
Chr4:47320123 [GRCh38] Chr4:47322140 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.270G>A (p.Gln90=) |
single nucleotide variant |
not provided [RCV003008125] |
Chr4:47161278 [GRCh38] Chr4:47163295 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.462-18C>G |
single nucleotide variant |
not provided [RCV002575300] |
Chr4:47320109 [GRCh38] Chr4:47322126 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1264G>T (p.Gly422Trp) |
single nucleotide variant |
not provided [RCV003008277] |
Chr4:47425857 [GRCh38] Chr4:47427874 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.544+18G>C |
single nucleotide variant |
not provided [RCV003043583] |
Chr4:47320227 [GRCh38] Chr4:47322244 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.682+18A>G |
single nucleotide variant |
not provided [RCV002932513] |
Chr4:47403473 [GRCh38] Chr4:47405490 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.37C>G (p.Leu13Val) |
single nucleotide variant |
not provided [RCV002700615] |
Chr4:47031688 [GRCh38] Chr4:47033705 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.990C>T (p.Ile330=) |
single nucleotide variant |
not provided [RCV003039788] |
Chr4:47406836 [GRCh38] Chr4:47408853 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.566T>C (p.Ile189Thr) |
single nucleotide variant |
not provided [RCV002666870] |
Chr4:47403339 [GRCh38] Chr4:47405356 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.173-12C>T |
single nucleotide variant |
not provided [RCV003057416] |
Chr4:47032405 [GRCh38] Chr4:47034422 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.122T>C (p.Val41Ala) |
single nucleotide variant |
not provided [RCV002917740] |
Chr4:47031955 [GRCh38] Chr4:47033972 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1287C>T (p.Ile429=) |
single nucleotide variant |
not provided [RCV002932278] |
Chr4:47425880 [GRCh38] Chr4:47427897 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.99C>A (p.Asn33Lys) |
single nucleotide variant |
not provided [RCV002801534] |
Chr4:47031932 [GRCh38] Chr4:47033949 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.835+15G>A |
single nucleotide variant |
not provided [RCV002894076] |
Chr4:47403726 [GRCh38] Chr4:47405743 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.418A>C (p.Met140Leu) |
single nucleotide variant |
not provided [RCV003056308] |
Chr4:47161426 [GRCh38] Chr4:47163443 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.80+14G>A |
single nucleotide variant |
not provided [RCV002918421] |
Chr4:47031745 [GRCh38] Chr4:47033762 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.621A>G (p.Glu207=) |
single nucleotide variant |
not provided [RCV002800866] |
Chr4:47403394 [GRCh38] Chr4:47405411 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.241-18G>A |
single nucleotide variant |
not provided [RCV003056222] |
Chr4:47161231 [GRCh38] Chr4:47163248 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.687G>T (p.Ala229=) |
single nucleotide variant |
not provided [RCV002937329] |
Chr4:47403563 [GRCh38] Chr4:47405580 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1263C>T (p.His421=) |
single nucleotide variant |
not provided [RCV002721082] |
Chr4:47425856 [GRCh38] Chr4:47427873 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.172+11A>T |
single nucleotide variant |
not provided [RCV002810829] |
Chr4:47032016 [GRCh38] Chr4:47034033 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.241-11T>C |
single nucleotide variant |
not provided [RCV002631282] |
Chr4:47161238 [GRCh38] Chr4:47163255 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.296A>T (p.Tyr99Phe) |
single nucleotide variant |
not provided [RCV003045280] |
Chr4:47161304 [GRCh38] Chr4:47163321 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1103T>G (p.Leu368Arg) |
single nucleotide variant |
not provided [RCV002716922] |
Chr4:47425696 [GRCh38] Chr4:47427713 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1371C>T (p.Phe457=) |
single nucleotide variant |
not provided [RCV002791743] |
Chr4:47425964 [GRCh38] Chr4:47427981 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.698T>G (p.Leu233Arg) |
single nucleotide variant |
not provided [RCV002834631] |
Chr4:47403574 [GRCh38] Chr4:47405591 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.513T>C (p.Asp171=) |
single nucleotide variant |
not provided [RCV002650435] |
Chr4:47320178 [GRCh38] Chr4:47322195 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1403A>T (p.Tyr468Phe) |
single nucleotide variant |
not provided [RCV003026435] |
Chr4:47425996 [GRCh38] Chr4:47428013 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1338_1339insTCTTTGATCCCCGACTTGACTGATGTG (p.Val446_Asn447insSerLeuIleProAspLeuThrAspVal) |
insertion |
not provided [RCV002601165] |
Chr4:47425909..47425910 [GRCh38] Chr4:47427926..47427927 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.915G>A (p.Ala305=) |
single nucleotide variant |
not provided [RCV002806000] |
Chr4:47406761 [GRCh38] Chr4:47408778 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.47C>A (p.Pro16His) |
single nucleotide variant |
not provided [RCV002716894] |
Chr4:47031698 [GRCh38] Chr4:47033715 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.340G>C (p.Asp114His) |
single nucleotide variant |
not provided [RCV002832836] |
Chr4:47161348 [GRCh38] Chr4:47163365 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.717A>G (p.Leu239=) |
single nucleotide variant |
not provided [RCV002857297] |
Chr4:47403593 [GRCh38] Chr4:47405610 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.829G>A (p.Ala277Thr) |
single nucleotide variant |
not provided [RCV002966220] |
Chr4:47403705 [GRCh38] Chr4:47405722 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.618C>A (p.Ile206=) |
single nucleotide variant |
not provided [RCV002716361] |
Chr4:47403391 [GRCh38] Chr4:47405408 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.150T>C (p.Ile50=) |
single nucleotide variant |
not provided [RCV002647616] |
Chr4:47031983 [GRCh38] Chr4:47034000 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.558T>C (p.Thr186=) |
single nucleotide variant |
not provided [RCV002633596] |
Chr4:47403331 [GRCh38] Chr4:47405348 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.188T>C (p.Val63Ala) |
single nucleotide variant |
not provided [RCV002676762] |
Chr4:47032432 [GRCh38] Chr4:47034449 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.34C>T (p.Leu12Phe) |
single nucleotide variant |
not provided [RCV002654119] |
Chr4:47031685 [GRCh38] Chr4:47033702 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.33G>C (p.Gly11=) |
single nucleotide variant |
not provided [RCV002658395] |
Chr4:47031684 [GRCh38] Chr4:47033701 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1237_1238delinsTT (p.Ala413Phe) |
indel |
not provided [RCV002815079] |
Chr4:47425830..47425831 [GRCh38] Chr4:47427847..47427848 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.180C>A (p.Pro60=) |
single nucleotide variant |
not provided [RCV002942595] |
Chr4:47032424 [GRCh38] Chr4:47034441 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.480A>G (p.Ala160=) |
single nucleotide variant |
not provided [RCV002943468] |
Chr4:47320145 [GRCh38] Chr4:47322162 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1278G>A (p.Lys426=) |
single nucleotide variant |
not provided [RCV002609195] |
Chr4:47425871 [GRCh38] Chr4:47427888 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1001A>G (p.Lys334Arg) |
single nucleotide variant |
not provided [RCV002681020] |
Chr4:47406847 [GRCh38] Chr4:47408864 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.11T>C (p.Val4Ala) |
single nucleotide variant |
not provided [RCV002609654] |
Chr4:47031662 [GRCh38] Chr4:47033679 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.618C>T (p.Ile206=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV003492802]|not provided [RCV002585566] |
Chr4:47403391 [GRCh38] Chr4:47405408 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1087G>A (p.Ala363Thr) |
single nucleotide variant |
not provided [RCV002612990] |
Chr4:47425680 [GRCh38] Chr4:47427697 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.843G>A (p.Thr281=) |
single nucleotide variant |
not provided [RCV002588550] |
Chr4:47406689 [GRCh38] Chr4:47408706 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.544+19G>A |
single nucleotide variant |
not provided [RCV002613316] |
Chr4:47320228 [GRCh38] Chr4:47322245 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.462-9C>T |
single nucleotide variant |
not provided [RCV002609892] |
Chr4:47320118 [GRCh38] Chr4:47322135 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.80+3G>A |
single nucleotide variant |
GABRB1-related disorder [RCV003916717]|not provided [RCV003050810] |
Chr4:47031734 [GRCh38] Chr4:47033751 [GRCh37] Chr4:4p12 |
likely benign|uncertain significance |
NM_000812.4(GABRB1):c.1259G>C (p.Arg420Pro) |
single nucleotide variant |
not specified [RCV004280066] |
Chr4:47425852 [GRCh38] Chr4:47427869 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.866T>C (p.Ile289Thr) |
single nucleotide variant |
not provided [RCV003329092] |
Chr4:47406712 [GRCh38] Chr4:47408729 [GRCh37] Chr4:4p12 |
uncertain significance |
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327613] |
Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12 |
pathogenic |
NM_000812.4(GABRB1):c.1128T>A (p.Asn376Lys) |
single nucleotide variant |
not provided [RCV003327137] |
Chr4:47425721 [GRCh38] Chr4:47427738 [GRCh37] Chr4:4p12 |
uncertain significance |
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327611] |
Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11 |
pathogenic |
NM_000812.4(GABRB1):c.1075G>A (p.Val359Ile) |
single nucleotide variant |
not provided [RCV003330036] |
Chr4:47406921 [GRCh38] Chr4:47408938 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV003340986] |
Chr4:47031725 [GRCh38] Chr4:47033742 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1139_1140delinsTT (p.Gly380Val) |
indel |
not provided [RCV003712553] |
Chr4:47425732..47425733 [GRCh38] Chr4:47427749..47427750 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.36T>A (p.Leu12=) |
single nucleotide variant |
not provided [RCV003571247] |
Chr4:47031687 [GRCh38] Chr4:47033704 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1401C>G (p.Val467=) |
single nucleotide variant |
not provided [RCV003571251] |
Chr4:47425994 [GRCh38] Chr4:47428011 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1136G>C (p.Ser379Thr) |
single nucleotide variant |
not provided [RCV003712552] |
Chr4:47425729 [GRCh38] Chr4:47427746 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.63G>C (p.Met21Ile) |
single nucleotide variant |
not provided [RCV003543256] |
Chr4:47031714 [GRCh38] Chr4:47033731 [GRCh37] Chr4:4p12 |
uncertain significance |
GRCh37/hg19 4p12(chr4:47375627-47618689)x3 |
copy number gain |
not provided [RCV003484176] |
Chr4:47375627..47618689 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.744G>A (p.Leu248=) |
single nucleotide variant |
not provided [RCV003435012] |
Chr4:47403620 [GRCh38] Chr4:47405637 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.510G>A (p.Leu170=) |
single nucleotide variant |
not provided [RCV003573875] |
Chr4:47320175 [GRCh38] Chr4:47322192 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.789G>A (p.Val263=) |
single nucleotide variant |
not provided [RCV003696605] |
Chr4:47403665 [GRCh38] Chr4:47405682 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.766C>T (p.Leu256=) |
single nucleotide variant |
not provided [RCV003661091] |
Chr4:47403642 [GRCh38] Chr4:47405659 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1007C>A (p.Pro336His) |
single nucleotide variant |
not provided [RCV003695651] |
Chr4:47406853 [GRCh38] Chr4:47408870 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.846A>T (p.Thr282=) |
single nucleotide variant |
not provided [RCV003875804] |
Chr4:47406692 [GRCh38] Chr4:47408709 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1065G>A (p.Glu355=) |
single nucleotide variant |
not provided [RCV003576652] |
Chr4:47406911 [GRCh38] Chr4:47408928 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.461+19C>T |
single nucleotide variant |
not provided [RCV003688444] |
Chr4:47161488 [GRCh38] Chr4:47163505 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.241-2A>C |
single nucleotide variant |
not provided [RCV003686696] |
Chr4:47161247 [GRCh38] Chr4:47163264 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.653T>C (p.Met218Thr) |
single nucleotide variant |
not provided [RCV003544941] |
Chr4:47403426 [GRCh38] Chr4:47405443 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1217A>G (p.Lys406Arg) |
single nucleotide variant |
not provided [RCV003578574] |
Chr4:47425810 [GRCh38] Chr4:47427827 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1043C>T (p.Ala348Val) |
single nucleotide variant |
not provided [RCV003686942] |
Chr4:47406889 [GRCh38] Chr4:47408906 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.119C>G (p.Thr40Arg) |
single nucleotide variant |
not provided [RCV003575676] |
Chr4:47031952 [GRCh38] Chr4:47033969 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.215T>G (p.Ile72Arg) |
single nucleotide variant |
not provided [RCV003691422] |
Chr4:47032459 [GRCh38] Chr4:47034476 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1321C>A (p.Pro441Thr) |
single nucleotide variant |
not provided [RCV003716694] |
Chr4:47425914 [GRCh38] Chr4:47427931 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.493C>G (p.Leu165Val) |
single nucleotide variant |
not provided [RCV003663728] |
Chr4:47320158 [GRCh38] Chr4:47322175 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1045A>G (p.Asn349Asp) |
single nucleotide variant |
not provided [RCV003697356] |
Chr4:47406891 [GRCh38] Chr4:47408908 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.544+11T>G |
single nucleotide variant |
not provided [RCV003697484] |
Chr4:47320220 [GRCh38] Chr4:47322237 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1283G>A (p.Arg428His) |
single nucleotide variant |
not provided [RCV003856269] |
Chr4:47425876 [GRCh38] Chr4:47427893 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.240+19G>C |
single nucleotide variant |
not provided [RCV003839513] |
Chr4:47032503 [GRCh38] Chr4:47034520 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1086C>T (p.Asp362=) |
single nucleotide variant |
not provided [RCV003836688] |
Chr4:47425679 [GRCh38] Chr4:47427696 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1219C>T (p.Pro407Ser) |
single nucleotide variant |
not provided [RCV003850560] |
Chr4:47425812 [GRCh38] Chr4:47427829 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.58A>G (p.Thr20Ala) |
single nucleotide variant |
not provided [RCV003726313] |
Chr4:47031709 [GRCh38] Chr4:47033726 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.368T>A (p.Phe123Tyr) |
single nucleotide variant |
not provided [RCV003701315] |
Chr4:47161376 [GRCh38] Chr4:47163393 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.835+7C>T |
single nucleotide variant |
not provided [RCV003834713] |
Chr4:47403718 [GRCh38] Chr4:47405735 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.178C>T (p.Pro60Ser) |
single nucleotide variant |
not provided [RCV003667150] |
Chr4:47032422 [GRCh38] Chr4:47034439 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.172+7C>T |
single nucleotide variant |
not provided [RCV003725483] |
Chr4:47032012 [GRCh38] Chr4:47034029 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.544+17G>C |
single nucleotide variant |
not provided [RCV003834825] |
Chr4:47320226 [GRCh38] Chr4:47322243 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.461+7G>A |
single nucleotide variant |
not provided [RCV003670878] |
Chr4:47161476 [GRCh38] Chr4:47163493 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.173-6C>T |
single nucleotide variant |
not provided [RCV003696915] |
Chr4:47032411 [GRCh38] Chr4:47034428 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.837A>G (p.Gly279=) |
single nucleotide variant |
not provided [RCV003697702] |
Chr4:47406683 [GRCh38] Chr4:47408700 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1214_1215delinsTT (p.Arg405Leu) |
indel |
not provided [RCV003700622] |
Chr4:47425807..47425808 [GRCh38] Chr4:47427824..47427825 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.734A>G (p.Tyr245Cys) |
single nucleotide variant |
not provided [RCV003832428] |
Chr4:47403610 [GRCh38] Chr4:47405627 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.545-20G>T |
single nucleotide variant |
not provided [RCV003671452] |
Chr4:47403298 [GRCh38] Chr4:47405315 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.61A>G (p.Met21Val) |
single nucleotide variant |
not provided [RCV003708374] |
Chr4:47031712 [GRCh38] Chr4:47033729 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1220C>G (p.Pro407Arg) |
single nucleotide variant |
not provided [RCV003705426] |
Chr4:47425813 [GRCh38] Chr4:47427830 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1080+16_1080+21dup |
duplication |
not provided [RCV003846541] |
Chr4:47406939..47406940 [GRCh38] Chr4:47408956..47408957 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1157G>A (p.Ser386Asn) |
single nucleotide variant |
not provided [RCV003679507] |
Chr4:47425750 [GRCh38] Chr4:47427767 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.175C>T (p.Pro59Ser) |
single nucleotide variant |
not provided [RCV003861867] |
Chr4:47032419 [GRCh38] Chr4:47034436 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1013A>C (p.Lys338Thr) |
single nucleotide variant |
not provided [RCV003551680] |
Chr4:47406859 [GRCh38] Chr4:47408876 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.504T>C (p.Tyr168=) |
single nucleotide variant |
not provided [RCV003864163] |
Chr4:47320169 [GRCh38] Chr4:47322186 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1084G>A (p.Asp362Asn) |
single nucleotide variant |
not provided [RCV003677279] |
Chr4:47425677 [GRCh38] Chr4:47427694 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.46C>T (p.Pro16Ser) |
single nucleotide variant |
not provided [RCV003709772] |
Chr4:47031697 [GRCh38] Chr4:47033714 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.240+8G>A |
single nucleotide variant |
not provided [RCV003844088] |
Chr4:47032492 [GRCh38] Chr4:47034509 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.73G>T (p.Ala25Ser) |
single nucleotide variant |
not provided [RCV003675304] |
Chr4:47031724 [GRCh38] Chr4:47033741 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.172+18T>C |
single nucleotide variant |
not provided [RCV003710738] |
Chr4:47032023 [GRCh38] Chr4:47034040 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1306C>A (p.Leu436Ile) |
single nucleotide variant |
not provided [RCV003843240] |
Chr4:47425899 [GRCh38] Chr4:47427916 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1239C>T (p.Ala413=) |
single nucleotide variant |
not provided [RCV003863454] |
Chr4:47425832 [GRCh38] Chr4:47427849 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.461G>A (p.Arg154Gln) |
single nucleotide variant |
not provided [RCV003708838] |
Chr4:47161469 [GRCh38] Chr4:47163486 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.311T>G (p.Leu104Arg) |
single nucleotide variant |
not provided [RCV003734354] |
Chr4:47161319 [GRCh38] Chr4:47163336 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.619G>A (p.Glu207Lys) |
single nucleotide variant |
not provided [RCV003857641] |
Chr4:47403392 [GRCh38] Chr4:47405409 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.462-16C>A |
single nucleotide variant |
not provided [RCV003568488] |
Chr4:47320111 [GRCh38] Chr4:47322128 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1249G>A (p.Ala417Thr) |
single nucleotide variant |
not provided [RCV003819197] |
Chr4:47425842 [GRCh38] Chr4:47427859 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.240+18G>T |
single nucleotide variant |
not provided [RCV003683709] |
Chr4:47032502 [GRCh38] Chr4:47034519 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1182G>T (p.Met394Ile) |
single nucleotide variant |
not provided [RCV003685798] |
Chr4:47425775 [GRCh38] Chr4:47427792 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1080G>A (p.Gln360=) |
single nucleotide variant |
not provided [RCV003685176] |
Chr4:47406926 [GRCh38] Chr4:47408943 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.682+6G>T |
single nucleotide variant |
not provided [RCV003858882] |
Chr4:47403461 [GRCh38] Chr4:47405478 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.20G>A (p.Arg7Gln) |
single nucleotide variant |
not provided [RCV003866685] |
Chr4:47031671 [GRCh38] Chr4:47033688 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.564C>T (p.Asp188=) |
single nucleotide variant |
not provided [RCV003870163] |
Chr4:47403337 [GRCh38] Chr4:47405354 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.913G>A (p.Ala305Thr) |
single nucleotide variant |
not provided [RCV003683713] |
Chr4:47406759 [GRCh38] Chr4:47408776 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.882G>A (p.Arg294=) |
single nucleotide variant |
not provided [RCV003722373] |
Chr4:47406728 [GRCh38] Chr4:47408745 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.241-17C>T |
single nucleotide variant |
not provided [RCV003863004] |
Chr4:47161232 [GRCh38] Chr4:47163249 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.1080+13A>G |
single nucleotide variant |
not provided [RCV003685944] |
Chr4:47406939 [GRCh38] Chr4:47408956 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1080+9T>C |
single nucleotide variant |
not provided [RCV003869506] |
Chr4:47406935 [GRCh38] Chr4:47408952 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.712C>T (p.Arg238Cys) |
single nucleotide variant |
not provided [RCV003870249] |
Chr4:47403588 [GRCh38] Chr4:47405605 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1224G>T (p.Leu408=) |
single nucleotide variant |
not provided [RCV003712428] |
Chr4:47425817 [GRCh38] Chr4:47427834 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.645C>A (p.Asp215Glu) |
single nucleotide variant |
not provided [RCV003565753] |
Chr4:47403418 [GRCh38] Chr4:47405435 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.127A>G (p.Arg43Gly) |
single nucleotide variant |
not provided [RCV003677805] |
Chr4:47031960 [GRCh38] Chr4:47033977 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1276A>C (p.Lys426Gln) |
single nucleotide variant |
not provided [RCV003677736] |
Chr4:47425869 [GRCh38] Chr4:47427886 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.462-6T>C |
single nucleotide variant |
not provided [RCV003682502] |
Chr4:47320121 [GRCh38] Chr4:47322138 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.462-7C>T |
single nucleotide variant |
not provided [RCV003568668] |
Chr4:47320120 [GRCh38] Chr4:47322137 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.835+1G>T |
single nucleotide variant |
not provided [RCV003565988] |
Chr4:47403712 [GRCh38] Chr4:47405729 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.694C>T (p.Arg232Ter) |
single nucleotide variant |
not provided [RCV003682920] |
Chr4:47403570 [GRCh38] Chr4:47405587 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1080+1G>A |
single nucleotide variant |
not provided [RCV003678217] |
Chr4:47406927 [GRCh38] Chr4:47408944 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.637A>G (p.Ile213Val) |
single nucleotide variant |
not provided [RCV003728636] |
Chr4:47403410 [GRCh38] Chr4:47405427 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.144T>C (p.Tyr48=) |
single nucleotide variant |
not provided [RCV003708116] |
Chr4:47031977 [GRCh38] Chr4:47033994 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.567T>C (p.Ile189=) |
single nucleotide variant |
not provided [RCV003678869] |
Chr4:47403340 [GRCh38] Chr4:47405357 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.252C>T (p.Leu84=) |
single nucleotide variant |
not provided [RCV003821086] |
Chr4:47161260 [GRCh38] Chr4:47163277 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.589G>C (p.Glu197Gln) |
single nucleotide variant |
not provided [RCV003678459] |
Chr4:47403362 [GRCh38] Chr4:47405379 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.71G>T (p.Cys24Phe) |
single nucleotide variant |
not provided [RCV003863232] |
Chr4:47031722 [GRCh38] Chr4:47033739 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.682+19A>G |
single nucleotide variant |
not provided [RCV003842484] |
Chr4:47403474 [GRCh38] Chr4:47405491 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.1389T>G (p.Leu463=) |
single nucleotide variant |
GABRB1-related disorder [RCV003904028] |
Chr4:47425982 [GRCh38] Chr4:47427999 [GRCh37] Chr4:4p12 |
likely benign |
GRCh37/hg19 4p12(chr4:47163266-47538581)x3 |
copy number gain |
not provided [RCV003885508] |
Chr4:47163266..47538581 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 45 [RCV004555519] |
Chr4:47425992 [GRCh38] Chr4:47428009 [GRCh37] Chr4:4p12 |
uncertain significance |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_000812.4(GABRB1):c.914C>T (p.Ala305Val) |
single nucleotide variant |
not provided [RCV003887393]|not specified [RCV004369713] |
Chr4:47406760 [GRCh38] Chr4:47408777 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.33G>T (p.Gly11=) |
single nucleotide variant |
GABRB1-related disorder [RCV003899050] |
Chr4:47031684 [GRCh38] Chr4:47033701 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.249A>G (p.Thr83=) |
single nucleotide variant |
not specified [RCV004527137] |
Chr4:47161257 [GRCh38] Chr4:47163274 [GRCh37] Chr4:4p12 |
likely benign |
NM_000812.4(GABRB1):c.27T>A (p.Ser9Arg) |
single nucleotide variant |
not specified [RCV004390138] |
Chr4:47031678 [GRCh38] Chr4:47033695 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.92C>T (p.Pro31Leu) |
single nucleotide variant |
not specified [RCV004390139] |
Chr4:47031925 [GRCh38] Chr4:47033942 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.807T>G (p.Tyr269Ter) |
single nucleotide variant |
not provided [RCV004590976] |
Chr4:47403683 [GRCh38] Chr4:47405700 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.172+53G>A |
single nucleotide variant |
not specified [RCV004595467] |
Chr4:47032058 [GRCh38] Chr4:47034075 [GRCh37] Chr4:4p12 |
benign |
NM_000812.4(GABRB1):c.282C>G (p.Asp94Glu) |
single nucleotide variant |
not provided [RCV004795050] |
Chr4:47161290 [GRCh38] Chr4:47163307 [GRCh37] Chr4:4p12 |
uncertain significance |
NM_000812.4(GABRB1):c.1324G>A (p.Asp442Asn) |
single nucleotide variant |
not provided [RCV004768422] |
Chr4:47425917 [GRCh38] Chr4:47427934 [GRCh37] Chr4:4p12 |
uncertain significance |