NM_020988.3(GNAO1):c.162-48A>G |
single nucleotide variant |
not provided [RCV001581961] |
Chr16:56275883 [GRCh38] Chr16:56309795 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.27G>A (p.Glu9=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001257074]|Inborn genetic diseases [RCV002316534]|not provided [RCV000585431] |
Chr16:56192262 [GRCh38] Chr16:56226174 [GRCh37] Chr16:16q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000655933]|Early infantile epileptic encephalopathy with suppression bursts [RCV000699557] |
Chr16:56336763 [GRCh38] Chr16:56370675 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001580365] |
Chr16:56192591 [GRCh38] Chr16:56226503 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.811A>G (p.Lys271Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000525427]|Neurodevelopmental disorder with involuntary movements [RCV002281576] |
Chr16:56351471 [GRCh38] Chr16:56385383 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.262A>G (p.Met88Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001314766]|not provided [RCV000519172] |
Chr16:56276031 [GRCh38] Chr16:56309943 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.572_592del (p.Thr191_Phe197del) |
deletion |
Developmental and epileptic encephalopathy, 17 [RCV000056407] |
Chr16:56334828..56334848 [GRCh38] Chr16:56368740..56368760 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) |
single nucleotide variant |
Abnormality of the nervous system [RCV001814039]|Developmental and epileptic encephalopathy, 17 [RCV000056408]|Developmental and epileptic encephalopathy, 17 [RCV000762963]|Early infantile epileptic encephalopathy with suppression bursts [RCV000468248]|GNAO1-Related Condition [RCV003421966]|Microcephaly [RCV001252685]|Rare genetic intellectual disability [RCV001256978]|not provided [RCV000255097] |
Chr16:56336744 [GRCh38] Chr16:56370656 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000056405] |
Chr16:56351496 [GRCh38] Chr16:56385408 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000056406]|Neurodevelopmental disorder with involuntary movements [RCV002281559] |
Chr16:56334785 [GRCh38] Chr16:56368697 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.2(GNAO1):c.161+11830G>A |
single nucleotide variant |
Lung cancer [RCV000100013] |
Chr16:56204446 [GRCh38] Chr16:56238358 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.612C>G (p.Gly204=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001493802] |
Chr16:56336749 [GRCh38] Chr16:56370661 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) |
single nucleotide variant |
Abnormality of the nervous system [RCV001814097]|Developmental and epileptic encephalopathy, 17 [RCV001808530]|Developmental delay [RCV001580372]|Early infantile epileptic encephalopathy with suppression bursts [RCV001857676]|Inborn genetic diseases [RCV000190803]|Neurodevelopmental disorder with involuntary movements [RCV000490631]|not provided [RCV000254701] |
Chr16:56351396 [GRCh38] Chr16:56385308 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic|likely benign |
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001065368]|Inborn genetic diseases [RCV000190691]|Neurodevelopmental disorder with involuntary movements [RCV000490633]|not provided [RCV000255659] |
Chr16:56336763 [GRCh38] Chr16:56370675 [GRCh37] Chr16:16q13 |
pathogenic|uncertain significance |
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 |
copy number loss |
See cases [RCV000133738] |
Chr16:55457477..63841622 [GRCh38] Chr16:55491389..63875526 [GRCh37] Chr16:54048890..62433027 [NCBI36] Chr16:16q12.2-21 |
pathogenic |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 |
copy number gain |
See cases [RCV000143425] |
Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 |
copy number gain |
See cases [RCV000143752] |
Chr16:49685521..68401712 [GRCh38] Chr16:49719432..68435615 [GRCh37] Chr16:48276933..66993116 [NCBI36] Chr16:16q12.1-22.1 |
pathogenic |
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000193275]|Developmental and epileptic encephalopathy, 17 [RCV000762964]|Early infantile epileptic encephalopathy with suppression bursts [RCV000694174]|not provided [RCV000493045] |
Chr16:56336817 [GRCh38] Chr16:56370729 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Ductal breast carcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 |
copy number loss |
Ductal breast carcinoma [RCV000207067] |
Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001378535]|Inborn genetic diseases [RCV000210693] |
Chr16:56192588 [GRCh38] Chr16:56226500 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
Single allele |
complex |
Ductal breast carcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
NM_020988.3(GNAO1):c.993C>T (p.Asn331=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000227908]|Inborn genetic diseases [RCV002311360]|not provided [RCV000517668] |
Chr16:56354981 [GRCh38] Chr16:56388893 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.983A>G (p.Asp328Gly) |
single nucleotide variant |
not provided [RCV000224477] |
Chr16:56354971 [GRCh38] Chr16:56388883 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.75G>A (p.Glu25=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000233020]|not provided [RCV001555078] |
Chr16:56192310 [GRCh38] Chr16:56226222 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.654C>T (p.Asp218=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000227315]|Inborn genetic diseases [RCV002317773]|not provided [RCV001668398] |
Chr16:56336791 [GRCh38] Chr16:56370703 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.550G>C (p.Gly184Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000623572] |
Chr16:56334814 [GRCh38] Chr16:56368726 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.425A>G (p.Asn142Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000549440] |
Chr16:56328752 [GRCh38] Chr16:56362664 [GRCh37] Chr16:16q13 |
benign|uncertain significance |
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001775107]|Early infantile epileptic encephalopathy with suppression bursts [RCV000475848]|GNAO1-Related Condition [RCV003401217]|Inborn genetic diseases [RCV000622320]|Movement disorder [RCV001003612]|Neurodevelopmental disorder with involuntary movements [RCV000490628]|not provided [RCV000256155] |
Chr16:56336762 [GRCh38] Chr16:56370674 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic|likely benign |
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002519057]|not provided [RCV000307507] |
Chr16:56192574 [GRCh38] Chr16:56226486 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001580368]|Early infantile epileptic encephalopathy with suppression bursts [RCV000702017]|Epileptic encephalopathy [RCV001003610]|not provided [RCV000486165] |
Chr16:56192353 [GRCh38] Chr16:56226265 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688464]|not provided [RCV000403784] |
Chr16:56192353 [GRCh38] Chr16:56226265 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.724-8G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002466519]|Early infantile epileptic encephalopathy with suppression bursts [RCV001851316]|Inborn genetic diseases [RCV002526037]|Neurodevelopmental disorder with involuntary movements [RCV001291829]|not provided [RCV000489428] |
Chr16:56351376 [GRCh38] Chr16:56385288 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.158T>A (p.Met53Lys) |
single nucleotide variant |
not provided [RCV001546803] |
Chr16:56192613 [GRCh38] Chr16:56226525 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.118+32G>C |
single nucleotide variant |
not provided [RCV001574257] |
Chr16:56192385 [GRCh38] Chr16:56226297 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.683T>C (p.Leu228Pro) |
single nucleotide variant |
not provided [RCV000489921] |
Chr16:56336820 [GRCh38] Chr16:56370732 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.676_677del (p.Val226fs) |
microsatellite |
not provided [RCV000488348] |
Chr16:56336810..56336811 [GRCh38] Chr16:56370722..56370723 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.851T>C (p.Leu284Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000590935] |
Chr16:56351511 [GRCh38] Chr16:56385423 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr) |
single nucleotide variant |
not provided [RCV000488949] |
Chr16:56351385 [GRCh38] Chr16:56385297 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001241780]|Inborn genetic diseases [RCV000623353] |
Chr16:56192351 [GRCh38] Chr16:56226263 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV000626015] |
Chr16:56336799 [GRCh38] Chr16:56370711 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.620C>A (p.Ser207Tyr) |
single nucleotide variant |
not provided [RCV000414640] |
Chr16:56336757 [GRCh38] Chr16:56370669 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.817G>T (p.Asp273Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001580370] |
Chr16:56351477 [GRCh38] Chr16:56385389 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000414910]|Developmental and epileptic encephalopathy, 17 [RCV001580371]|not provided [RCV000657944] |
Chr16:56336829 [GRCh38] Chr16:56370741 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.21A>G (p.Ala7=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000534911] |
Chr16:56192256 [GRCh38] Chr16:56226168 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.351C>T (p.Thr117=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000536082]|Inborn genetic diseases [RCV002316535] |
Chr16:56328678 [GRCh38] Chr16:56362590 [GRCh37] Chr16:16q13 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_020988.3(GNAO1):c.871T>A (p.Tyr291Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001851218]|not provided [RCV000480846] |
Chr16:56351531 [GRCh38] Chr16:56385443 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001085748]|Inborn genetic diseases [RCV002311792]|not provided [RCV000711824] |
Chr16:56328741 [GRCh38] Chr16:56362653 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.921A>G (p.Gln307=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001080522]|Inborn genetic diseases [RCV002318559]|not provided [RCV000711828] |
Chr16:56354909 [GRCh38] Chr16:56388821 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.386T>C (p.Met129Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000460108] |
Chr16:56328713 [GRCh38] Chr16:56362625 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.828C>T (p.Gly276=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000464048]|not provided [RCV001171913] |
Chr16:56351488 [GRCh38] Chr16:56385400 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.412C>G (p.Gln138Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000467995] |
Chr16:56328739 [GRCh38] Chr16:56362651 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.687C>T (p.Ser229=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000475675]|Inborn genetic diseases [RCV002318560]|not provided [RCV001683520] |
Chr16:56336824 [GRCh38] Chr16:56370736 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.161+8C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001085369]|not provided [RCV000711823] |
Chr16:56192624 [GRCh38] Chr16:56226536 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000762965]|Dyskinesia [RCV001003613]|Early infantile epileptic encephalopathy with suppression bursts [RCV001851189]|not provided [RCV000477989] |
Chr16:56336846 [GRCh38] Chr16:56370758 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.161+8C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001506583] |
Chr16:56192624 [GRCh38] Chr16:56226536 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.649G>A (p.Glu217Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806364]|not provided [RCV000498979] |
Chr16:56336786 [GRCh38] Chr16:56370698 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000499510]|Developmental and epileptic encephalopathy, 17 [RCV003458445]|Early infantile epileptic encephalopathy with suppression bursts [RCV002524192] |
Chr16:56192598 [GRCh38] Chr16:56226510 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic|not provided |
NM_020988.3(GNAO1):c.625C>G (p.Arg209Gly) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV000490630] |
Chr16:56336762 [GRCh38] Chr16:56370674 [GRCh37] Chr16:16q13 |
pathogenic |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 |
copy number gain |
See cases [RCV000511791] |
Chr16:34197492..64509054 [GRCh37] Chr16:16p11.2-q21 |
pathogenic |
NM_020988.3(GNAO1):c.737A>G (p.Glu246Gly) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV000490634] |
Chr16:56351397 [GRCh38] Chr16:56385309 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.187G>A (p.Gly63Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636350] |
Chr16:56275956 [GRCh38] Chr16:56309868 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.1017C>A (p.Val339=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636467]|Inborn genetic diseases [RCV002343243]|not provided [RCV001662679] |
Chr16:56355005 [GRCh38] Chr16:56388917 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.724-9C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636493]|not provided [RCV001712728] |
Chr16:56351375 [GRCh38] Chr16:56385287 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.474C>T (p.Asp158=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636500]|not provided [RCV001692242] |
Chr16:56334738 [GRCh38] Chr16:56368650 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.119-5A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001466154]|Inborn genetic diseases [RCV002334081] |
Chr16:56192569 [GRCh38] Chr16:56226481 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.66C>T (p.Asn22=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636620] |
Chr16:56192301 [GRCh38] Chr16:56226213 [GRCh37] Chr16:16q13 |
likely benign |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_020988.3(GNAO1):c.338G>A (p.Arg113Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636339] |
Chr16:56328665 [GRCh38] Chr16:56362577 [GRCh37] Chr16:16q13 |
benign|uncertain significance |
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) |
single nucleotide variant |
GNAO1-Related Condition [RCV001731851]|Neurodevelopmental disorder with involuntary movements [RCV000656551]|not provided [RCV001756114] |
Chr16:56336741 [GRCh38] Chr16:56370653 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
NM_020988.3(GNAO1):c.303+6C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000560065] |
Chr16:56276078 [GRCh38] Chr16:56309990 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.38T>C (p.Leu13Pro) |
single nucleotide variant |
not provided [RCV000584858] |
Chr16:56192273 [GRCh38] Chr16:56226185 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636427] |
Chr16:56351473 [GRCh38] Chr16:56385385 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.252C>T (p.Ile84=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636461]|not provided [RCV001584469] |
Chr16:56276021 [GRCh38] Chr16:56309933 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.724-5C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636608] |
Chr16:56351379 [GRCh38] Chr16:56385291 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.153G>A (p.Lys51=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636586] |
Chr16:56192608 [GRCh38] Chr16:56226520 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+6926G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000585823] |
Chr16:56343786 [GRCh38] Chr16:56377698 [GRCh37] Chr16:16q13 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 1 [RCV000714659]|Neurodevelopmental disorder with involuntary movements [RCV000714660] |
Chr16:56192574 [GRCh38] Chr16:56226486 [GRCh37] Chr16:16q13 |
likely pathogenic |
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 |
copy number gain |
not provided [RCV000683820] |
Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2 |
pathogenic |
GRCh37/hg19 16q12.2(chr16:56355238-56487629)x1 |
copy number loss |
not provided [RCV000683821] |
Chr16:56355238..56487629 [GRCh37] Chr16:16q12.2 |
uncertain significance |
NM_020988.3(GNAO1):c.513C>T (p.Thr171=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001702549]|Early infantile epileptic encephalopathy with suppression bursts [RCV001510041]|Inborn genetic diseases [RCV002312248]|Neurodevelopmental disorder with involuntary movements [RCV001702550]|not provided [RCV000711825] |
Chr16:56334777 [GRCh38] Chr16:56368689 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.286G>A (p.Gly96Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000691846]|Inborn genetic diseases [RCV002440453]|Intellectual disability [RCV001252009]|not provided [RCV001797128] |
Chr16:56276055 [GRCh38] Chr16:56309967 [GRCh37] Chr16:16q13 |
benign|likely benign|uncertain significance |
NM_020988.3(GNAO1):c.768CAA[1] (p.Asn257del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000689860] |
Chr16:56351426..56351428 [GRCh38] Chr16:56385338..56385340 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.723+4020A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002532918]|not provided [RCV000711826] |
Chr16:56340880 [GRCh38] Chr16:56374792 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.723+4099G>A |
single nucleotide variant |
not provided [RCV000711827] |
Chr16:56340959 [GRCh38] Chr16:56374871 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.723+6976A>G |
single nucleotide variant |
not provided [RCV000711829] |
Chr16:56343836 [GRCh38] Chr16:56377748 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.1014C>T (p.Ala338=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002534578]|Inborn genetic diseases [RCV002317988]|not provided [RCV003456425] |
Chr16:56355002 [GRCh38] Chr16:56388914 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.333G>A (p.Val111=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001502195]|Inborn genetic diseases [RCV002318113] |
Chr16:56328660 [GRCh38] Chr16:56362572 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.678C>T (p.Val226=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001452843]|Inborn genetic diseases [RCV002318286] |
Chr16:56336815 [GRCh38] Chr16:56370727 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.354G>T (p.Glu118Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002318219] |
Chr16:56328681 [GRCh38] Chr16:56362593 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002534983]|Inborn genetic diseases [RCV002318276] |
Chr16:56334784 [GRCh38] Chr16:56368696 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.156G>A (p.Gln52=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318172] |
Chr16:56192611 [GRCh38] Chr16:56226523 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.274G>A (p.Gly92Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002060950]|Inborn genetic diseases [RCV002318267] |
Chr16:56276043 [GRCh38] Chr16:56309955 [GRCh37] Chr16:16q13 |
benign|uncertain significance |
NC_000016.10:g.56191213G>C |
single nucleotide variant |
not provided [RCV001565603] |
Chr16:56191213 [GRCh38] Chr16:56225125 [GRCh37] Chr16:16q13 |
likely benign |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
Single allele |
duplication |
not provided [RCV001542388] |
Chr16:46385317..61223349 [GRCh38] Chr16:16q11.2-21 |
pathogenic |
NM_020988.3(GNAO1):c.450C>T (p.Asn150=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001510389]|not provided [RCV000977587] |
Chr16:56328777 [GRCh38] Chr16:56362689 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.723+6824C>T |
single nucleotide variant |
not provided [RCV001534571] |
Chr16:56343684 [GRCh38] Chr16:56377596 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+156G>A |
single nucleotide variant |
not provided [RCV001586303] |
Chr16:56337016 [GRCh38] Chr16:56370928 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.186C>T (p.Ser62=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000860989]|not provided [RCV001534068] |
Chr16:56275955 [GRCh38] Chr16:56309867 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.660G>A (p.Thr220=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000861245]|Inborn genetic diseases [RCV002372394]|not provided [RCV001672964] |
Chr16:56336797 [GRCh38] Chr16:56370709 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.878-7G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001466308] |
Chr16:56354859 [GRCh38] Chr16:56388771 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.465-158G>A |
single nucleotide variant |
not provided [RCV001551456] |
Chr16:56334571 [GRCh38] Chr16:56368483 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000989603] |
Chr16:56328778 [GRCh38] Chr16:56362690 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000989604] |
Chr16:56336744 [GRCh38] Chr16:56370656 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.897C>T (p.Asp299=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000877148] |
Chr16:56354885 [GRCh38] Chr16:56388797 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.118+8C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000866685] |
Chr16:56192361 [GRCh38] Chr16:56226273 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.132A>G (p.Ser44=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001399307] |
Chr16:56192587 [GRCh38] Chr16:56226499 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.870A>G (p.Glu290=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000867707] |
Chr16:56351530 [GRCh38] Chr16:56385442 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.417G>A (p.Glu139=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000928241]|Inborn genetic diseases [RCV002332899] |
Chr16:56328744 [GRCh38] Chr16:56362656 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.877+7G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001428345] |
Chr16:56351544 [GRCh38] Chr16:56385456 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.735C>T (p.His245=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000863945] |
Chr16:56351395 [GRCh38] Chr16:56385307 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.465-3C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002549934]|not provided [RCV000996276] |
Chr16:56334726 [GRCh38] Chr16:56368638 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002482009]|Early infantile epileptic encephalopathy with suppression bursts [RCV001056053] |
Chr16:56351516 [GRCh38] Chr16:56385428 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001089718] |
Chr16:56351391 [GRCh38] Chr16:56385303 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.495C>T (p.Ala165=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001495194]|Inborn genetic diseases [RCV002336771]|not provided [RCV003424390] |
Chr16:56334759 [GRCh38] Chr16:56368671 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+10A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000982720] |
Chr16:56334867 [GRCh38] Chr16:56368779 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.681G>A (p.Ala227=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000869284] |
Chr16:56336818 [GRCh38] Chr16:56370730 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.606C>T (p.Val202=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000868057]|Inborn genetic diseases [RCV002352550]|not provided [RCV001546220] |
Chr16:56336743 [GRCh38] Chr16:56370655 [GRCh37] Chr16:16q13 |
likely benign |
GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1 |
copy number loss |
Global developmental delay [RCV002284257] |
Chr16:55103496..56391061 [GRCh37] Chr16:16q12.2 |
pathogenic |
NM_020988.3(GNAO1):c.746T>C (p.Met249Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818232] |
Chr16:56351406 [GRCh38] Chr16:56385318 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.809A>C (p.Asn270Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000792659] |
Chr16:56351469 [GRCh38] Chr16:56385381 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000797207]|Inborn genetic diseases [RCV002352336]|not provided [RCV003130045] |
Chr16:56328724 [GRCh38] Chr16:56362636 [GRCh37] Chr16:16q13 |
benign|likely benign|uncertain significance |
NM_020988.3(GNAO1):c.397G>C (p.Gly133Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000820996] |
Chr16:56328724 [GRCh38] Chr16:56362636 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.389G>A (p.Arg130Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000814095]|Inborn genetic diseases [RCV002363114] |
Chr16:56328716 [GRCh38] Chr16:56362628 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002272357]|Early infantile epileptic encephalopathy with suppression bursts [RCV000794940] |
Chr16:56192595 [GRCh38] Chr16:56226507 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000850558] |
Chr16:56351396 [GRCh38] Chr16:56385308 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000824830] |
Chr16:56192353 [GRCh38] Chr16:56226265 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.354G>C (p.Glu118Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818944] |
Chr16:56328681 [GRCh38] Chr16:56362593 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.1020C>T (p.Thr340=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000864106]|Inborn genetic diseases [RCV002381925] |
Chr16:56355008 [GRCh38] Chr16:56388920 [GRCh37] Chr16:16q13 |
likely benign |
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 |
copy number gain |
not provided [RCV000848548] |
Chr16:53455650..64006604 [GRCh37] Chr16:16q12.2-21 |
uncertain significance |
NM_020988.3(GNAO1):c.818A>T (p.Asp273Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001068363] |
Chr16:56351478 [GRCh38] Chr16:56385390 [GRCh37] Chr16:16q13 |
pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.754G>A (p.Asp252Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001239089] |
Chr16:56351414 [GRCh38] Chr16:56385326 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.655G>A (p.Val219Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001222769] |
Chr16:56336792 [GRCh38] Chr16:56370704 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.830AGA[1] (p.Lys278del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001065180] |
Chr16:56351490..56351492 [GRCh38] Chr16:56385402..56385404 [GRCh37] Chr16:16q13 |
pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.894A>T (p.Glu298Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001235993] |
Chr16:56354882 [GRCh38] Chr16:56388794 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+4106A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001196661] |
Chr16:56340966 [GRCh38] Chr16:56374878 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV000989602]|Early infantile epileptic encephalopathy with suppression bursts [RCV002549730] |
Chr16:56192598 [GRCh38] Chr16:56226510 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.263T>G (p.Met88Arg) |
single nucleotide variant |
not provided [RCV000996275] |
Chr16:56276032 [GRCh38] Chr16:56309944 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.17G>T (p.Ser6Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV003230749] |
Chr16:56192252 [GRCh38] Chr16:56226164 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.465-146T>C |
single nucleotide variant |
not provided [RCV001642192] |
Chr16:56334583 [GRCh38] Chr16:56368495 [GRCh37] Chr16:16q13 |
benign |
NR_027078.2(GNAO1-DT):n.67C>T |
single nucleotide variant |
not provided [RCV001572116] |
Chr16:56191028 [GRCh38] Chr16:56224940 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.304-105T>C |
single nucleotide variant |
not provided [RCV001552153] |
Chr16:56328526 [GRCh38] Chr16:56362438 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.*28+45AC[21] |
microsatellite |
not provided [RCV001684214] |
Chr16:56355125..56355126 [GRCh38] Chr16:56389037..56389038 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.161+111CA[14] |
microsatellite |
not provided [RCV001690550] |
Chr16:56192726..56192727 [GRCh38] Chr16:56226638..56226639 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.304-212A>G |
single nucleotide variant |
not provided [RCV001576300] |
Chr16:56328419 [GRCh38] Chr16:56362331 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+4358T>G |
single nucleotide variant |
not provided [RCV001550358] |
Chr16:56341218 [GRCh38] Chr16:56375130 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+4327A>G |
single nucleotide variant |
not provided [RCV001615516] |
Chr16:56341187 [GRCh38] Chr16:56375099 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.724-7163C>A |
single nucleotide variant |
not provided [RCV001550545] |
Chr16:56344221 [GRCh38] Chr16:56378133 [GRCh37] Chr16:16q13 |
likely benign |
NC_000016.10:g.56191219G>T |
single nucleotide variant |
not provided [RCV001688713] |
Chr16:56191219 [GRCh38] Chr16:56225131 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+7134G>A |
single nucleotide variant |
not provided [RCV001550790] |
Chr16:56343994 [GRCh38] Chr16:56377906 [GRCh37] Chr16:16q13 |
likely benign |
NC_000016.10:g.56191124G>A |
single nucleotide variant |
not provided [RCV001639787] |
Chr16:56191124 [GRCh38] Chr16:56225036 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+7136C>T |
single nucleotide variant |
not provided [RCV001685664] |
Chr16:56343996 [GRCh38] Chr16:56377908 [GRCh37] Chr16:16q13 |
benign |
NC_000016.10:g.56191113G>A |
single nucleotide variant |
not provided [RCV001691687] |
Chr16:56191113 [GRCh38] Chr16:56225025 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001580366]|Developmental and epileptic encephalopathy, 17 [RCV003326148] |
Chr16:56336824 [GRCh38] Chr16:56370736 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001580369] |
Chr16:56351470 [GRCh38] Chr16:56385382 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.195C>T (p.Asp65=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000865084]|not provided [RCV001815486] |
Chr16:56275964 [GRCh38] Chr16:56309876 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.36C>T (p.Ala12=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000977991] |
Chr16:56192271 [GRCh38] Chr16:56226183 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.783C>T (p.Ile261=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001481832] |
Chr16:56351443 [GRCh38] Chr16:56385355 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.724-4G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000980094] |
Chr16:56351380 [GRCh38] Chr16:56385292 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.987G>A (p.Thr329=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001393039] |
Chr16:56354975 [GRCh38] Chr16:56388887 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.330G>C (p.Val110=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001440859] |
Chr16:56328657 [GRCh38] Chr16:56362569 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001217249]|Inborn genetic diseases [RCV002562424] |
Chr16:56192293 [GRCh38] Chr16:56226205 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV001224759] |
Chr16:56334791..56334792 [GRCh38] Chr16:56368703..56368704 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.496G>A (p.Ala166Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229411]|not provided [RCV001574238] |
Chr16:56334760 [GRCh38] Chr16:56368672 [GRCh37] Chr16:16q13 |
benign|likely benign|uncertain significance |
NM_020988.3(GNAO1):c.793A>G (p.Ile265Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034087] |
Chr16:56351453 [GRCh38] Chr16:56385365 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.282A>G (p.Glu94=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221682] |
Chr16:56276051 [GRCh38] Chr16:56309963 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.118+52C>G |
single nucleotide variant |
not provided [RCV001558748] |
Chr16:56192405 [GRCh38] Chr16:56226317 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.161+109_161+110dup |
duplication |
not provided [RCV001662897] |
Chr16:56192723..56192724 [GRCh38] Chr16:56226635..56226636 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+4413T>C |
single nucleotide variant |
not provided [RCV001586753] |
Chr16:56341273 [GRCh38] Chr16:56375185 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+114G>A |
single nucleotide variant |
not provided [RCV001555130] |
Chr16:56334971 [GRCh38] Chr16:56368883 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.284A>G (p.Tyr95Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568490]|not provided [RCV001576518] |
Chr16:56276053 [GRCh38] Chr16:56309965 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.*28+127TA[12] |
microsatellite |
not provided [RCV001671662] |
Chr16:56355207..56355208 [GRCh38] Chr16:56389119..56389120 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+6642_723+6643dup |
duplication |
not provided [RCV001538251] |
Chr16:56343487..56343488 [GRCh38] Chr16:56377399..56377400 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.878-297A>G |
single nucleotide variant |
not provided [RCV001713999] |
Chr16:56354569 [GRCh38] Chr16:56388481 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+6641_723+6643dup |
duplication |
not provided [RCV001674838] |
Chr16:56343487..56343488 [GRCh38] Chr16:56377399..56377400 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.*28+45AC[20] |
microsatellite |
not provided [RCV001621691] |
Chr16:56355125..56355126 [GRCh38] Chr16:56389037..56389038 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+3765C>T |
single nucleotide variant |
not provided [RCV001590655] |
Chr16:56340625 [GRCh38] Chr16:56374537 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+117C>T |
single nucleotide variant |
not provided [RCV001617958] |
Chr16:56334974 [GRCh38] Chr16:56368886 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.303+190dup |
duplication |
not provided [RCV001658835] |
Chr16:56276261..56276262 [GRCh38] Chr16:56310173..56310174 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.448A>C (p.Asn150His) |
single nucleotide variant |
Inborn genetic diseases [RCV003259134]|Neurodevelopmental disorder with involuntary movements [RCV003339523]|not provided [RCV001169954]|not specified [RCV002249751] |
Chr16:56328775 [GRCh38] Chr16:56362687 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001580367] |
Chr16:56334734 [GRCh38] Chr16:56368646 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.723+3851C>A |
single nucleotide variant |
not provided [RCV001590166] |
Chr16:56340711 [GRCh38] Chr16:56374623 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+3697_723+3706del |
deletion |
not provided [RCV001616664] |
Chr16:56340554..56340563 [GRCh38] Chr16:56374466..56374475 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.465-140C>T |
single nucleotide variant |
not provided [RCV001679793] |
Chr16:56334589 [GRCh38] Chr16:56368501 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.464+178A>C |
single nucleotide variant |
not provided [RCV001667036] |
Chr16:56328969 [GRCh38] Chr16:56362881 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.877+123A>T |
single nucleotide variant |
not provided [RCV001691167] |
Chr16:56351660 [GRCh38] Chr16:56385572 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.593+48C>T |
single nucleotide variant |
not provided [RCV001584609] |
Chr16:56334905 [GRCh38] Chr16:56368817 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.*28+45AC[16] |
microsatellite |
not provided [RCV001708606] |
Chr16:56355125..56355126 [GRCh38] Chr16:56389037..56389038 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.*28+45AC[19] |
microsatellite |
not provided [RCV001534032] |
Chr16:56355125..56355126 [GRCh38] Chr16:56389037..56389038 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.*28+127TA[11] |
microsatellite |
not provided [RCV001670199] |
Chr16:56355207..56355208 [GRCh38] Chr16:56389119..56389120 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.*28+45AC[17] |
microsatellite |
not provided [RCV001696404] |
Chr16:56355125..56355126 [GRCh38] Chr16:56389037..56389038 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.*28+45AC[14] |
microsatellite |
not provided [RCV001612439] |
Chr16:56355126..56355127 [GRCh38] Chr16:56389038..56389039 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.161+111CA[11] |
microsatellite |
not provided [RCV001648621] |
Chr16:56192727..56192728 [GRCh38] Chr16:56226639..56226640 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+3914C>T |
single nucleotide variant |
not provided [RCV001539211] |
Chr16:56340774 [GRCh38] Chr16:56374686 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.161+111CA[13] |
microsatellite |
not provided [RCV001652484] |
Chr16:56192726..56192727 [GRCh38] Chr16:56226638..56226639 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile) |
single nucleotide variant |
Dyskinesia [RCV001003611] |
Chr16:56334809 [GRCh38] Chr16:56368721 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.723+1G>A |
single nucleotide variant |
Choreoathetosis [RCV001003614]|Early infantile epileptic encephalopathy with suppression bursts [RCV001862728]|Inborn genetic diseases [RCV001267357] |
Chr16:56336861 [GRCh38] Chr16:56370773 [GRCh37] Chr16:16q13 |
pathogenic |
NC_000016.10:g.(?_56328611)_(56343970_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032047] |
Chr16:56362523..56377882 [GRCh37] Chr16:16q12.2 |
pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.884A>G (p.Asn295Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054911]|not provided [RCV001759996] |
Chr16:56354872 [GRCh38] Chr16:56388784 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.318G>C (p.Met106Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001232778] |
Chr16:56328645 [GRCh38] Chr16:56362557 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001004674] |
Chr16:56334773 [GRCh38] Chr16:56368685 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001252010] |
Chr16:56354961 [GRCh38] Chr16:56388873 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001253688]|Early infantile epileptic encephalopathy with suppression bursts [RCV001879874]|Inborn genetic diseases [RCV003365295]|not provided [RCV003222278] |
Chr16:56328755 [GRCh38] Chr16:56362667 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.1030_1032del (p.Ile344del) |
deletion |
Inborn genetic diseases [RCV001266674] |
Chr16:56355018..56355020 [GRCh38] Chr16:56388930..56388932 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.593+6G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001301360] |
Chr16:56334863 [GRCh38] Chr16:56368775 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.303+6C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001300686] |
Chr16:56276078 [GRCh38] Chr16:56309990 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.121G>A (p.Ala41Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001315691] |
Chr16:56192576 [GRCh38] Chr16:56226488 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.129A>G (p.Glu43=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001415139] |
Chr16:56192584 [GRCh38] Chr16:56226496 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.388C>T (p.Arg130Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001361312] |
Chr16:56328715 [GRCh38] Chr16:56362627 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.759dup (p.Ile254fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001315820] |
Chr16:56351417..56351418 [GRCh38] Chr16:56385329..56385330 [GRCh37] Chr16:16q13 |
pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.117C>T (p.Leu39=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001297531] |
Chr16:56192352 [GRCh38] Chr16:56226264 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+2T>A |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV001374408] |
Chr16:56336862 [GRCh38] Chr16:56370774 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.89C>T (p.Ala30Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001365172] |
Chr16:56192324 [GRCh38] Chr16:56226236 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.290A>G (p.Asp97Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001365310]|not provided [RCV001732141] |
Chr16:56276059 [GRCh38] Chr16:56309971 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.529C>T (p.Arg177Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001324264]|not provided [RCV001587346] |
Chr16:56334793 [GRCh38] Chr16:56368705 [GRCh37] Chr16:16q13 |
pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.687C>A (p.Ser229Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001318085] |
Chr16:56336824 [GRCh38] Chr16:56370736 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.1008C>T (p.Phe336=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001394694] |
Chr16:56354996 [GRCh38] Chr16:56388908 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.938G>A (p.Arg313His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001360567] |
Chr16:56354926 [GRCh38] Chr16:56388838 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr) |
single nucleotide variant |
Seizure [RCV001507300] |
Chr16:56354892 [GRCh38] Chr16:56388804 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.304-10C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001519106] |
Chr16:56328621 [GRCh38] Chr16:56362533 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.465-4T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001479410] |
Chr16:56334725 [GRCh38] Chr16:56368637 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.909C>T (p.Tyr303=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001452735] |
Chr16:56354897 [GRCh38] Chr16:56388809 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.304-7C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001470320] |
Chr16:56328624 [GRCh38] Chr16:56362536 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.603C>T (p.Asp201=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001493292] |
Chr16:56336740 [GRCh38] Chr16:56370652 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.393C>G (p.Leu131=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001402034] |
Chr16:56328720 [GRCh38] Chr16:56362632 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.24G>A (p.Glu8=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001407624] |
Chr16:56192259 [GRCh38] Chr16:56226171 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.201A>G (p.Lys67=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001405626] |
Chr16:56275970 [GRCh38] Chr16:56309882 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.174A>G (p.Glu58=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001445359] |
Chr16:56275943 [GRCh38] Chr16:56309855 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.543A>G (p.Lys181=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001448103] |
Chr16:56334807 [GRCh38] Chr16:56368719 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.54G>A (p.Ala18=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001411645]|not provided [RCV003313225] |
Chr16:56192289 [GRCh38] Chr16:56226201 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.714C>T (p.Asp238=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001402018] |
Chr16:56336851 [GRCh38] Chr16:56370763 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.257G>A (p.Arg86Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001502450] |
Chr16:56276026 [GRCh38] Chr16:56309938 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.464+7G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001451032] |
Chr16:56328798 [GRCh38] Chr16:56362710 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+6643dup |
duplication |
not provided [RCV001538934] |
Chr16:56343487..56343488 [GRCh38] Chr16:56377399..56377400 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.399C>T (p.Gly133=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001512263]|Inborn genetic diseases [RCV002377888]|not provided [RCV003312003] |
Chr16:56328726 [GRCh38] Chr16:56362638 [GRCh37] Chr16:16q13 |
benign|likely benign |
NM_020988.3(GNAO1):c.304-95C>T |
single nucleotide variant |
not provided [RCV001592769] |
Chr16:56328536 [GRCh38] Chr16:56362448 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.464+22T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001703031]|Neurodevelopmental disorder with involuntary movements [RCV001703032]|not provided [RCV001649477] |
Chr16:56328813 [GRCh38] Chr16:56362725 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.351C>G (p.Thr117=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001463983] |
Chr16:56328678 [GRCh38] Chr16:56362590 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+18C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001518849]|not provided [RCV001673098] |
Chr16:56334875 [GRCh38] Chr16:56368787 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.903C>T (p.Ala301=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001504910] |
Chr16:56354891 [GRCh38] Chr16:56388803 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.117C>G (p.Leu39=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001514612] |
Chr16:56192352 [GRCh38] Chr16:56226264 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.744C>T (p.Leu248=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001426916] |
Chr16:56351404 [GRCh38] Chr16:56385316 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.343G>A (p.Glu115Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001522602] |
Chr16:56328670 [GRCh38] Chr16:56362582 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.1015G>A (p.Val339Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002544059]|not provided [RCV001754808] |
Chr16:56355003 [GRCh38] Chr16:56388915 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.844T>C (p.Ser282Pro) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV001730048] |
Chr16:56351504 [GRCh38] Chr16:56385416 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.517C>T (p.Gln173Ter) |
single nucleotide variant |
not specified [RCV002247866] |
Chr16:56334781 [GRCh38] Chr16:56368693 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+7070C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002227646] |
Chr16:56343930 [GRCh38] Chr16:56377842 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002249062] |
Chr16:56336751 [GRCh38] Chr16:56370663 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.151A>G (p.Lys51Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001785369] |
Chr16:56192606 [GRCh38] Chr16:56226518 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+275_723+277del |
microsatellite |
not provided [RCV001799921] |
Chr16:56337132..56337134 [GRCh38] Chr16:56371044..56371046 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.145A>C (p.Ile49Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002304235]|not provided [RCV001769078] |
Chr16:56192600 [GRCh38] Chr16:56226512 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.724-4958G>A |
single nucleotide variant |
not provided [RCV003238509] |
Chr16:56346426 [GRCh38] Chr16:56380338 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.608G>A (p.Gly203Glu) |
single nucleotide variant |
not provided [RCV003238503] |
Chr16:56336745 [GRCh38] Chr16:56370657 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.708C>T (p.His236=) |
single nucleotide variant |
Inborn genetic diseases [RCV002361071]|not specified [RCV001822252] |
Chr16:56336845 [GRCh38] Chr16:56370757 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002246525]|Neurodevelopmental disorder with involuntary movements [RCV001808238] |
Chr16:56351408 [GRCh38] Chr16:56385320 [GRCh37] Chr16:16q13 |
pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.499G>C (p.Asp167His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV001809279] |
Chr16:56334763 [GRCh38] Chr16:56368675 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.433C>T (p.Arg145Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001970896] |
Chr16:56328760 [GRCh38] Chr16:56362672 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.596T>C (p.Leu199Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001949659] |
Chr16:56336733 [GRCh38] Chr16:56370645 [GRCh37] Chr16:16q13 |
pathogenic |
GRCh37/hg19 16q12.2(chr16:56269138-56618661) |
copy number gain |
not specified [RCV002052530] |
Chr16:56269138..56618661 [GRCh37] Chr16:16q12.2 |
uncertain significance |
NM_020988.3(GNAO1):c.553A>G (p.Ile185Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001889947] |
Chr16:56334817 [GRCh38] Chr16:56368729 [GRCh37] Chr16:16q13 |
uncertain significance |
NC_000016.9:g.(?_56226148)_(56310004_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001912949] |
Chr16:56226148..56310004 [GRCh37] Chr16:16q12.2 |
uncertain significance |
NM_020988.3(GNAO1):c.138A>T (p.Lys46Asn) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV001823038] |
Chr16:56192593 [GRCh38] Chr16:56226505 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.232A>C (p.Ile78Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001869809]|not provided [RCV001823341] |
Chr16:56276001 [GRCh38] Chr16:56309913 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001889307]|not provided [RCV002300618] |
Chr16:56192610 [GRCh38] Chr16:56226522 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.617G>T (p.Arg206Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002002430] |
Chr16:56336754 [GRCh38] Chr16:56370666 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.813G>T (p.Lys271Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001941166] |
Chr16:56351473 [GRCh38] Chr16:56385385 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.267C>T (p.Asp89=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942698] |
Chr16:56276036 [GRCh38] Chr16:56309948 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.310G>A (p.Ala104Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001981789] |
Chr16:56328637 [GRCh38] Chr16:56362549 [GRCh37] Chr16:16q13 |
benign|uncertain significance |
NC_000016.9:g.(?_56226148)_(56226548_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001958420] |
Chr16:56226148..56226548 [GRCh37] Chr16:16q12.2 |
pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.1045C>T (p.Arg349Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001904169]|not provided [RCV003229063] |
Chr16:56355033 [GRCh38] Chr16:56388945 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.413A>G (p.Gln138Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001979149] |
Chr16:56328740 [GRCh38] Chr16:56362652 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.488T>C (p.Ile163Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001870384]|not provided [RCV003407846] |
Chr16:56334752 [GRCh38] Chr16:56368664 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.428G>T (p.Arg143Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001973220] |
Chr16:56328755 [GRCh38] Chr16:56362667 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.76G>A (p.Asp26Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002028794] |
Chr16:56192311 [GRCh38] Chr16:56226223 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002503376]|Early infantile epileptic encephalopathy with suppression bursts [RCV001869943] |
Chr16:56334743 [GRCh38] Chr16:56368655 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.464+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001976534] |
Chr16:56328793 [GRCh38] Chr16:56362705 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.602A>T (p.Asp201Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001994745] |
Chr16:56336739 [GRCh38] Chr16:56370651 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001972962]|not provided [RCV002274241] |
Chr16:56355011..56355013 [GRCh38] Chr16:56388923..56388925 [GRCh37] Chr16:16q13 |
pathogenic|likely pathogenic |
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002246570]|Early infantile epileptic encephalopathy with suppression bursts [RCV001877856] |
Chr16:56192579 [GRCh38] Chr16:56226491 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.863T>C (p.Phe288Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001958371] |
Chr16:56351523 [GRCh38] Chr16:56385435 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.464+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001884568] |
Chr16:56328796 [GRCh38] Chr16:56362708 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.303+4G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001977455] |
Chr16:56276076 [GRCh38] Chr16:56309988 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723G>A (p.Thr241=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001900216] |
Chr16:56336860 [GRCh38] Chr16:56370772 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.594-15C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002207950]|not specified [RCV003226531] |
Chr16:56336716 [GRCh38] Chr16:56370628 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.119-17T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002209734] |
Chr16:56192557 [GRCh38] Chr16:56226469 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.464+18C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002210411] |
Chr16:56328809 [GRCh38] Chr16:56362721 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.161+12T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002110105] |
Chr16:56192628 [GRCh38] Chr16:56226540 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.161+17T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002073883] |
Chr16:56192633 [GRCh38] Chr16:56226545 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002250020] |
Chr16:56336747 [GRCh38] Chr16:56370659 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002250021] |
Chr16:56336757 [GRCh38] Chr16:56370669 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.498C>T (p.Ala166=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002072425]|Inborn genetic diseases [RCV002337179] |
Chr16:56334762 [GRCh38] Chr16:56368674 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+12A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002106754] |
Chr16:56334869 [GRCh38] Chr16:56368781 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.651G>C (p.Glu217Asp) |
single nucleotide variant |
not provided [RCV002224941] |
Chr16:56336788 [GRCh38] Chr16:56370700 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.585C>T (p.Leu195=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002089895] |
Chr16:56334849 [GRCh38] Chr16:56368761 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.464+19G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002210763] |
Chr16:56328810 [GRCh38] Chr16:56362722 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.753C>T (p.Phe251=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002214644] |
Chr16:56351413 [GRCh38] Chr16:56385325 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.119-10G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002211745] |
Chr16:56192564 [GRCh38] Chr16:56226476 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.878-10C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002193576] |
Chr16:56354856 [GRCh38] Chr16:56388768 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.204G>A (p.Gln68=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002206625] |
Chr16:56275973 [GRCh38] Chr16:56309885 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.161+9C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002208296] |
Chr16:56192625 [GRCh38] Chr16:56226537 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.33C>T (p.Ala11=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002115416] |
Chr16:56192268 [GRCh38] Chr16:56226180 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.119-12G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002166252] |
Chr16:56192562 [GRCh38] Chr16:56226474 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.936C>T (p.Asn312=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002192915] |
Chr16:56354924 [GRCh38] Chr16:56388836 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.279C>T (p.Ile93=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002174104]|not provided [RCV003426358] |
Chr16:56276048 [GRCh38] Chr16:56309960 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+14A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002194809] |
Chr16:56334871 [GRCh38] Chr16:56368783 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.540C>A (p.Val180=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002215496] |
Chr16:56334804 [GRCh38] Chr16:56368716 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.1011C>T (p.Asp337=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002115452]|not provided [RCV003418380] |
Chr16:56354999 [GRCh38] Chr16:56388911 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.464+14C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002150196] |
Chr16:56328805 [GRCh38] Chr16:56362717 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.616C>A (p.Arg206=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002113779] |
Chr16:56336753 [GRCh38] Chr16:56370665 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.261C>T (p.Ala87=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002079308] |
Chr16:56276030 [GRCh38] Chr16:56309942 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.119-14C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002101333] |
Chr16:56192560 [GRCh38] Chr16:56226472 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.621T>G (p.Ser207=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002141943] |
Chr16:56336758 [GRCh38] Chr16:56370670 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+11T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002182132] |
Chr16:56336871 [GRCh38] Chr16:56370783 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.877+20G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002220931] |
Chr16:56351557 [GRCh38] Chr16:56385469 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.825T>C (p.Phe275=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002163730] |
Chr16:56351485 [GRCh38] Chr16:56385397 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.427C>T (p.Arg143Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002154993] |
Chr16:56328754 [GRCh38] Chr16:56362666 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.549T>G (p.Thr183=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002082984] |
Chr16:56334813 [GRCh38] Chr16:56368725 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.724-20C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002140901] |
Chr16:56351364 [GRCh38] Chr16:56385276 [GRCh37] Chr16:16q13 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NM_020988.3(GNAO1):c.464+15G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002155922] |
Chr16:56328806 [GRCh38] Chr16:56362718 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.309C>T (p.Asp103=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002098979] |
Chr16:56328636 [GRCh38] Chr16:56362548 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+17C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002204839] |
Chr16:56334874 [GRCh38] Chr16:56368786 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.161+13G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002157401] |
Chr16:56192629 [GRCh38] Chr16:56226541 [GRCh37] Chr16:16q13 |
likely benign |
NC_000016.9:g.(?_56226148)_(58768132_?)del |
deletion |
Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] |
Chr16:56226148..58768132 [GRCh37] Chr16:16q12.2-21 |
pathogenic |
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002249063] |
Chr16:56351397 [GRCh38] Chr16:56385309 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.170A>G (p.His57Arg) |
single nucleotide variant |
not provided [RCV003131049] |
Chr16:56275939 [GRCh38] Chr16:56309851 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.115C>T (p.Leu39Phe) |
single nucleotide variant |
See cases [RCV002253122] |
Chr16:56192350 [GRCh38] Chr16:56226262 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.304-19275T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002227719] |
Chr16:56309356 [GRCh38] Chr16:56343268 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.119G>C (p.Gly40Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV003230750] |
Chr16:56192574 [GRCh38] Chr16:56226486 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.789C>G (p.Thr263=) |
single nucleotide variant |
not provided [RCV002273430] |
Chr16:56351449 [GRCh38] Chr16:56385361 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.723+6965T>C |
single nucleotide variant |
not provided [RCV002276029] |
Chr16:56343825 [GRCh38] Chr16:56377737 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.736_738delinsAAA (p.Glu246Lys) |
indel |
not provided [RCV002276030] |
Chr16:56351396..56351398 [GRCh38] Chr16:56385308..56385310 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.303+4852A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002266663] |
Chr16:56280924 [GRCh38] Chr16:56314836 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.1008del (p.Phe336fs) |
deletion |
not provided [RCV002293807] |
Chr16:56354996 [GRCh38] Chr16:56388908 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
Single allele |
deletion |
not provided [RCV002266766] |
Chr16:53818483..57631312 [GRCh38] Chr16:16q12.2-21 |
pathogenic |
NM_020988.3(GNAO1):c.982G>T (p.Asp328Tyr) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV002287869] |
Chr16:56354970 [GRCh38] Chr16:56388882 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.939C>T (p.Arg313=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003095966]|not provided [RCV002262517] |
Chr16:56354927 [GRCh38] Chr16:56388839 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.326A>T (p.Asp109Val) |
single nucleotide variant |
not provided [RCV002287089] |
Chr16:56328653 [GRCh38] Chr16:56362565 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV002290360] |
Chr16:56351411 [GRCh38] Chr16:56385323 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.723+6975A>G |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV002287224] |
Chr16:56343835 [GRCh38] Chr16:56377747 [GRCh37] Chr16:16q13 |
uncertain significance |
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 |
copy number gain |
not provided [RCV002472562] |
Chr16:46503573..62203182 [GRCh37] Chr16:16q11.2-21 |
pathogenic |
NM_020988.3(GNAO1):c.358T>G (p.Phe120Val) |
single nucleotide variant |
not provided [RCV002473967] |
Chr16:56328685 [GRCh38] Chr16:56362597 [GRCh37] Chr16:16q13 |
uncertain significance |
GRCh37/hg19 16q12.2(chr16:55723839-56330832)x3 |
copy number gain |
not provided [RCV002473483] |
Chr16:55723839..56330832 [GRCh37] Chr16:16q12.2 |
uncertain significance |
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del) |
deletion |
Developmental and epileptic encephalopathy, 17 [RCV002471735] |
Chr16:56355008..56355010 [GRCh38] Chr16:56388920..56388922 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.67C>T (p.Leu23Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002300246] |
Chr16:56192302 [GRCh38] Chr16:56226214 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.601G>T (p.Asp201Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002358111] |
Chr16:56336738 [GRCh38] Chr16:56370650 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.830A>G (p.Glu277Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002430369] |
Chr16:56351490 [GRCh38] Chr16:56385402 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.485G>T (p.Arg162Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002301800] |
Chr16:56334749 [GRCh38] Chr16:56368661 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.388C>A (p.Arg130=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357385] |
Chr16:56328715 [GRCh38] Chr16:56362627 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.636G>T (p.Trp212Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002300136] |
Chr16:56336773 [GRCh38] Chr16:56370685 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.286G>C (p.Gly96Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002299772] |
Chr16:56276055 [GRCh38] Chr16:56309967 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.91G>T (p.Ala31Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002450058] |
Chr16:56192326 [GRCh38] Chr16:56226238 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+4098C>A |
single nucleotide variant |
not provided [RCV002305878] |
Chr16:56340958 [GRCh38] Chr16:56374870 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.694G>A (p.Asp232Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003099135]|not provided [RCV002308970] |
Chr16:56336831 [GRCh38] Chr16:56370743 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.499G>A (p.Asp167Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002342996]|not provided [RCV003134429] |
Chr16:56334763 [GRCh38] Chr16:56368675 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.155A>C (p.Gln52Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003074982] |
Chr16:56192610 [GRCh38] Chr16:56226522 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.277A>G (p.Ile93Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002859712] |
Chr16:56276046 [GRCh38] Chr16:56309958 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.118+3A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002881236] |
Chr16:56192356 [GRCh38] Chr16:56226268 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.724-16C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002780069] |
Chr16:56351368 [GRCh38] Chr16:56385280 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.759C>T (p.Ser253=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003032728] |
Chr16:56351419 [GRCh38] Chr16:56385331 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.287G>C (p.Gly96Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002726413] |
Chr16:56276056 [GRCh38] Chr16:56309968 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.648C>T (p.Phe216=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003075758] |
Chr16:56336785 [GRCh38] Chr16:56370697 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.944C>T (p.Pro315Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002838238] |
Chr16:56354932 [GRCh38] Chr16:56388844 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.338G>C (p.Arg113Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002817209] |
Chr16:56328665 [GRCh38] Chr16:56362577 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.727C>T (p.Arg243Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002993556] |
Chr16:56351387 [GRCh38] Chr16:56385299 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.119-18C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002907640] |
Chr16:56192556 [GRCh38] Chr16:56226468 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+9C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV003224641]|Early infantile epileptic encephalopathy with suppression bursts [RCV003081423] |
Chr16:56336869 [GRCh38] Chr16:56370781 [GRCh37] Chr16:16q13 |
likely benign|uncertain significance |
NM_020988.3(GNAO1):c.720C>T (p.Thr240=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002868018] |
Chr16:56336857 [GRCh38] Chr16:56370769 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.111C>T (p.Leu37=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002705306] |
Chr16:56192346 [GRCh38] Chr16:56226258 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.842A>C (p.Lys281Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002622511] |
Chr16:56351502 [GRCh38] Chr16:56385414 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.229A>G (p.Thr77Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002736150] |
Chr16:56275998 [GRCh38] Chr16:56309910 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.877+7G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002846892] |
Chr16:56351544 [GRCh38] Chr16:56385456 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+10C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003035973] |
Chr16:56336870 [GRCh38] Chr16:56370782 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+14del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003100492] |
Chr16:56336872 [GRCh38] Chr16:56370784 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.275G>A (p.Gly92Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003019904]|not provided [RCV003320909] |
Chr16:56276044 [GRCh38] Chr16:56309956 [GRCh37] Chr16:16q13 |
benign|uncertain significance |
NM_020988.3(GNAO1):c.639C>A (p.Ile213=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002912946] |
Chr16:56336776 [GRCh38] Chr16:56370688 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.492G>C (p.Gly164=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002820487] |
Chr16:56334756 [GRCh38] Chr16:56368668 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.119-2_119-1del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003043124] |
Chr16:56192572..56192573 [GRCh38] Chr16:56226484..56226485 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.723+4098C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002986148] |
Chr16:56340958 [GRCh38] Chr16:56374870 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.556G>A (p.Val186Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664059]|not provided [RCV003134680] |
Chr16:56334820 [GRCh38] Chr16:56368732 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.161+16A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002982421] |
Chr16:56192632 [GRCh38] Chr16:56226544 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.960T>C (p.Tyr320=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002624513] |
Chr16:56354948 [GRCh38] Chr16:56388860 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.877+19T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002957400] |
Chr16:56351556 [GRCh38] Chr16:56385468 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+16G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003083507] |
Chr16:56334873 [GRCh38] Chr16:56368785 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+3985C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002696815] |
Chr16:56340845 [GRCh38] Chr16:56374757 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.888C>G (p.Thr296=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003057067] |
Chr16:56354876 [GRCh38] Chr16:56388788 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.791C>T (p.Ser264Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003022981] |
Chr16:56351451 [GRCh38] Chr16:56385363 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.877+6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002852372] |
Chr16:56351543 [GRCh38] Chr16:56385455 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+15C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003082828] |
Chr16:56336875 [GRCh38] Chr16:56370787 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.911T>A (p.Ile304Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003028939] |
Chr16:56354899 [GRCh38] Chr16:56388811 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.372G>C (p.Leu124=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002811606] |
Chr16:56328699 [GRCh38] Chr16:56362611 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.425A>C (p.Asn142Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003047566] |
Chr16:56328752 [GRCh38] Chr16:56362664 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002670808]|not provided [RCV003318729] |
Chr16:56334794 [GRCh38] Chr16:56368706 [GRCh37] Chr16:16q13 |
likely pathogenic|uncertain significance |
NM_020988.3(GNAO1):c.485G>A (p.Arg162Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002597942] |
Chr16:56334749 [GRCh38] Chr16:56368661 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.118+20C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003027995] |
Chr16:56192373 [GRCh38] Chr16:56226285 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.321G>T (p.Val107=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002577531] |
Chr16:56328648 [GRCh38] Chr16:56362560 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.56T>A (p.Ile19Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003027626] |
Chr16:56192291 [GRCh38] Chr16:56226203 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.1021G>A (p.Asp341Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002922760] |
Chr16:56355009 [GRCh38] Chr16:56388921 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.327T>G (p.Asp109Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002723085] |
Chr16:56328654 [GRCh38] Chr16:56362566 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.415G>A (p.Glu139Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003051830] |
Chr16:56328742 [GRCh38] Chr16:56362654 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.914A>G (p.Gln305Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002814588] |
Chr16:56354902 [GRCh38] Chr16:56388814 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.480G>A (p.Leu160=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002676916] |
Chr16:56334744 [GRCh38] Chr16:56368656 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.593+19C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003066923] |
Chr16:56334876 [GRCh38] Chr16:56368788 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.525C>T (p.Ile175=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003032116] |
Chr16:56334789 [GRCh38] Chr16:56368701 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.986C>T (p.Thr329Met) |
single nucleotide variant |
not provided [RCV003154445] |
Chr16:56354974 [GRCh38] Chr16:56388886 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.124G>C (p.Gly42Arg) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV003223534] |
Chr16:56192579 [GRCh38] Chr16:56226491 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.617G>A (p.Arg206Gln) |
single nucleotide variant |
not provided [RCV003222874] |
Chr16:56336754 [GRCh38] Chr16:56370666 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV003224927]|Developmental and epileptic encephalopathy, 17 [RCV003224928] |
Chr16:56192292 [GRCh38] Chr16:56226204 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.1046G>A (p.Arg349Gln) |
single nucleotide variant |
not provided [RCV003329973] |
Chr16:56355034 [GRCh38] Chr16:56388946 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.594G>T (p.Arg198Ser) |
single nucleotide variant |
not provided [RCV003325817] |
Chr16:56336731 [GRCh38] Chr16:56370643 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+1G>T |
single nucleotide variant |
not provided [RCV003325916] |
Chr16:56336861 [GRCh38] Chr16:56370773 [GRCh37] Chr16:16q13 |
pathogenic |
NM_020988.3(GNAO1):c.4G>C (p.Gly2Arg) |
single nucleotide variant |
Neurodevelopmental disorder with involuntary movements [RCV003335829] |
Chr16:56192239 [GRCh38] Chr16:56226151 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.723+3977C>T |
single nucleotide variant |
GNAO1-Related Condition [RCV003394334] |
Chr16:56340837 [GRCh38] Chr16:56374749 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.723+6925C>T |
single nucleotide variant |
not provided [RCV003419334] |
Chr16:56343785 [GRCh38] Chr16:56377697 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.616C>G (p.Arg206Gly) |
single nucleotide variant |
Movement disorder [RCV003484997] |
Chr16:56336753 [GRCh38] Chr16:56370665 [GRCh37] Chr16:16q13 |
likely pathogenic |
NM_020988.3(GNAO1):c.256C>T (p.Arg86Trp) |
single nucleotide variant |
not provided [RCV003442282] |
Chr16:56276025 [GRCh38] Chr16:56309937 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.161+20682C>T |
single nucleotide variant |
not provided [RCV003426711] |
Chr16:56213298 [GRCh38] Chr16:56247210 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.723+6946G>A |
single nucleotide variant |
not provided [RCV003419335] |
Chr16:56343806 [GRCh38] Chr16:56377718 [GRCh37] Chr16:16q13 |
likely benign |
NM_020988.3(GNAO1):c.161+20757G>A |
single nucleotide variant |
not provided [RCV003411353] |
Chr16:56213373 [GRCh38] Chr16:56247285 [GRCh37] Chr16:16q13 |
benign |
NM_020988.3(GNAO1):c.723+6954G>A |
single nucleotide variant |
not provided [RCV003411354] |
Chr16:56343814 [GRCh38] Chr16:56377726 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
GNAO1-Related Condition [RCV003412043] |
Chr16:56276049 [GRCh38] Chr16:56309961 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.464+1G>T |
single nucleotide variant |
GNAO1-Related Condition [RCV003416740] |
Chr16:56328792 [GRCh38] Chr16:56362704 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.474C>G (p.Asp158Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 17 [RCV003389127] |
Chr16:56334738 [GRCh38] Chr16:56368650 [GRCh37] Chr16:16q13 |
uncertain significance |
NM_020988.3(GNAO1):c.594-20C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003849620] |
Chr16:56336711 [GRCh38] Chr16:56370623 [GRCh37] Chr16:16q13 |
likely benign |