NM_003165.4(STXBP1):c.1789G>A (p.Asp597Asn) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000531208]|not specified [RCV000616758] |
Chr9:127684454 [GRCh38] Chr9:130446733 [GRCh37] Chr9:9q34.11 |
likely benign|uncertain significance |
NM_003165.4(STXBP1):c.1381_1390del (p.Lys461fs) |
deletion |
Early infantile epileptic encephalopathy 4 [RCV001253253]|Infantile epileptic dyskinetic encephalopathy [RCV001053882]|not provided [RCV000519905] |
Chr9:127678444..127678453 [GRCh38] Chr9:130440723..130440732 [GRCh37] Chr9:9q34.11 |
pathogenic |
STXBP1, 1-BP DEL, 1206T |
deletion |
Variant of unknown significance [RCV000032659] |
Chr9:9q34.1 |
uncertain significance |
Single allele |
deletion |
Early infantile epileptic encephalopathy 4 [RCV000735211] |
Chr9:130248090..130388197 [GRCh37] Chr9:9q33.3-34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1434G>C (p.Trp478Cys) |
single nucleotide variant |
not provided [RCV000729430] |
Chr9:127678505 [GRCh38] Chr9:130440784 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.6C>T (p.Ala2=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719507]|Infantile epileptic dyskinetic encephalopathy [RCV000537277]|not specified [RCV000517304] |
Chr9:127612409 [GRCh38] Chr9:130374688 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.171T>C (p.Ile57=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000547276] |
Chr9:127658376 [GRCh38] Chr9:130420655 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.707G>A (p.Gly236Asp) |
single nucleotide variant |
not provided [RCV000519228] |
Chr9:127666209 [GRCh38] Chr9:130428488 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.902+10C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000601965] |
Chr9:127668197 [GRCh38] Chr9:130430476 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001032221.6(STXBP1):c.1111-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000721132]|Infantile epileptic dyskinetic encephalopathy [RCV000527133] |
Chr9:127675802 [GRCh38] Chr9:130438081 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.326-1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001030035]|Infantile epileptic dyskinetic encephalopathy [RCV000543201] |
Chr9:127661101 [GRCh38] Chr9:130423380 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000007118] |
Chr9:127682489 [GRCh38] Chr9:130444768 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000007119]|History of neurodevelopmental disorder [RCV000715110] |
Chr9:127663314 [GRCh38] Chr9:130425593 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000007120] |
Chr9:127676722 [GRCh38] Chr9:130439001 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000007121] |
Chr9:127660034 [GRCh38] Chr9:130422313 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000007122]|Inborn genetic diseases [RCV001266381]|Infantile epilepsy syndrome [RCV001265424]|Infantile epileptic dyskinetic encephalopathy [RCV000539734]|not provided [RCV000189612] |
Chr9:127675855 [GRCh38] Chr9:130438134 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.169+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000007123] |
Chr9:127653797 [GRCh38] Chr9:130416076 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000114939]|Infantile epileptic dyskinetic encephalopathy [RCV000525775]|not provided [RCV000440506] |
Chr9:127668132 [GRCh38] Chr9:130430411 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1 |
copy number loss |
See cases [RCV000050860] |
Chr9:126081595..127781685 [GRCh38] Chr9:128843874..130543964 [GRCh37] Chr9:127883695..129583785 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 |
copy number gain |
See cases [RCV000051040] |
Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 |
copy number gain |
See cases [RCV000051009] |
Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 |
copy number loss |
See cases [RCV000052923] |
Chr9:125993583..129682375 [GRCh38] Chr9:128755862..132444654 [GRCh37] Chr9:127795683..131484475 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] |
Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003165.3(STXBP1):c.1306G>A (p.Asp436Asn) |
single nucleotide variant |
Malignant melanoma [RCV000061894] |
Chr9:127676700 [GRCh38] Chr9:130438979 [GRCh37] Chr9:129478800 [NCBI36] Chr9:9q34.11 |
not provided |
NM_003165.4(STXBP1):c.685C>T (p.Gln229Ter) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265417]|Infantile epileptic dyskinetic encephalopathy [RCV001202015]|not provided [RCV000657782] |
Chr9:127666187 [GRCh38] Chr9:130428466 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV001258011]|Early infantile epileptic encephalopathy 4 [RCV000779645]|not provided [RCV000080077] |
Chr9:127672091 [GRCh38] Chr9:130434370 [GRCh37] Chr9:9q34.11 |
likely pathogenic|uncertain significance |
NM_003165.4(STXBP1):c.1548C>T (p.Ser516=) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000610135]|History of neurodevelopmental disorder [RCV000718653]|Infantile epileptic dyskinetic encephalopathy [RCV000470734]|not specified [RCV000186666] |
Chr9:127682406 [GRCh38] Chr9:130444685 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_003165.4(STXBP1):c.325+8C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000613435]|Infantile epileptic dyskinetic encephalopathy [RCV001079732]|not provided [RCV000713556]|not specified [RCV000080079] |
Chr9:127660116 [GRCh38] Chr9:130422395 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_003165.4(STXBP1):c.38-3T>C |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715135]|Infantile epileptic dyskinetic encephalopathy [RCV000230972]|not provided [RCV000713557]|not specified [RCV000147704] |
Chr9:127651600 [GRCh38] Chr9:130413879 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.247-8A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000609695]|Infantile epileptic dyskinetic encephalopathy [RCV000233301]|not specified [RCV000147703] |
Chr9:127660022 [GRCh38] Chr9:130422301 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.326-8A>G |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000471097]|not specified [RCV000128312] |
Chr9:127661094 [GRCh38] Chr9:130423373 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.627C>T (p.Leu209=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720154]|Infantile epileptic dyskinetic encephalopathy [RCV000524692]|not specified [RCV000128313] |
Chr9:127665295 [GRCh38] Chr9:130427574 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.663+17C>T |
single nucleotide variant |
not specified [RCV000128314] |
Chr9:127665348 [GRCh38] Chr9:130427627 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.846C>T (p.Asp282=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715080]|Infantile epileptic dyskinetic encephalopathy [RCV000457484]|not provided [RCV000713558]|not specified [RCV000147707] |
Chr9:127668131 [GRCh38] Chr9:130430410 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.888C>T (p.Ile296=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718614]|Infantile epileptic dyskinetic encephalopathy [RCV001084365]|not provided [RCV000713559]|not specified [RCV000128316] |
Chr9:127668173 [GRCh38] Chr9:130430452 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.902+15C>T |
single nucleotide variant |
not specified [RCV000128317] |
Chr9:127668202 [GRCh38] Chr9:130430481 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.1356C>T (p.Thr452=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717285]|Infantile epileptic dyskinetic encephalopathy [RCV000476355]|not specified [RCV000147701] |
Chr9:127676750 [GRCh38] Chr9:130439029 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.1359+15C>T |
single nucleotide variant |
not specified [RCV000128319] |
Chr9:127676768 [GRCh38] Chr9:130439047 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.6C>A (p.Ala2=) |
single nucleotide variant |
not specified [RCV000128320] |
Chr9:127612409 [GRCh38] Chr9:130374688 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.1662C>T (p.Tyr554=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715109]|Infantile epileptic dyskinetic encephalopathy [RCV000463015]|not specified [RCV000128321] |
Chr9:127682520 [GRCh38] Chr9:130444799 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000147702]|History of neurodevelopmental disorder [RCV000720150]|Infantile epileptic dyskinetic encephalopathy [RCV000863608]|not specified [RCV000128322] |
Chr9:127682538 [GRCh38] Chr9:130444817 [GRCh37] Chr9:9q34.11 |
benign|likely benign|uncertain significance |
NM_003165.4(STXBP1):c.1702+10C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000616011]|Infantile epileptic dyskinetic encephalopathy [RCV000230027]|not specified [RCV000128323] |
Chr9:127682570 [GRCh38] Chr9:130444849 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.1702+11G>A |
single nucleotide variant |
not specified [RCV000128324] |
Chr9:127682571 [GRCh38] Chr9:130444850 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000515202]|Early onset epileptic encephalopathy [RCV000509312]|Inborn genetic diseases [RCV001266353]|Infantile epilepsy syndrome [RCV001265420]|Infantile epileptic dyskinetic encephalopathy [RCV000700520]|not provided [RCV000171427]|not specified [RCV000502114] |
Chr9:127668159 [GRCh38] Chr9:130430438 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_001032221.6(STXBP1):c.1461+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001004748] |
Chr9:127678533 [GRCh38] Chr9:130440812 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000179420]|Global developmental delay [RCV000626842]|Infantile epilepsy syndrome [RCV001265297]|Intellectual disability [RCV001260782]|not provided [RCV000189595] |
Chr9:127661140 [GRCh38] Chr9:130423419 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.875G>T (p.Arg292Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000190701] |
Chr9:127668160 [GRCh38] Chr9:130430439 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.587A>G (p.Lys196Arg) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149143] |
Chr9:127665255 [GRCh38] Chr9:130427534 [GRCh37] Chr9:9q34.11 |
uncertain significance |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000147705]|Infantile epilepsy syndrome [RCV001265418]|Infantile epileptic dyskinetic encephalopathy [RCV000636306]|not specified [RCV000502234] |
Chr9:127666236 [GRCh38] Chr9:130428515 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic|uncertain significance |
NM_001032221.4(STXBP1):c.754_755del (p.Met252fs) |
deletion |
Early infantile epileptic encephalopathy 4 [RCV000147706] |
Chr9:127666255..127666256 [GRCh38] Chr9:130428534..130428535 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1548-7T>C |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000869699]|not specified [RCV000195018] |
Chr9:127682399 [GRCh38] Chr9:130444678 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003165.4(STXBP1):c.433T>C (p.Tyr145His) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000147709] |
Chr9:127663208 [GRCh38] Chr9:130425487 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.714C>A (p.Asp238Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000147710] |
Chr9:127666216 [GRCh38] Chr9:130428495 [GRCh37] Chr9:9q34.11 |
uncertain significance |
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 |
copy number gain |
See cases [RCV000134920] |
Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 |
copy number loss |
See cases [RCV000137787] |
Chr9:125055865..128637946 [GRCh38] Chr9:127818144..131400225 [GRCh37] Chr9:126857965..130440046 [NCBI36] Chr9:9q33.3-34.11 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003165.4(STXBP1):c.902+9C>A |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636541]|not specified [RCV000153996] |
Chr9:127668196 [GRCh38] Chr9:130430475 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003165.4(STXBP1):c.1804A>G (p.Met602Val) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000543561]|not specified [RCV000189592] |
Chr9:127684469 [GRCh38] Chr9:130446748 [GRCh37] Chr9:9q34.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003165.4(STXBP1):c.1029+1G>T |
single nucleotide variant |
not provided [RCV000595386] |
Chr9:127672117 [GRCh38] Chr9:130434396 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1277T>C (p.Leu426Pro) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265291]|Infantile epileptic dyskinetic encephalopathy [RCV001240474]|not provided [RCV000254966] |
Chr9:127676671 [GRCh38] Chr9:130438950 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.548T>C (p.Leu183Pro) |
single nucleotide variant |
not provided [RCV000179854] |
Chr9:127663323 [GRCh38] Chr9:130425602 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV001258012]|Early infantile epileptic encephalopathy 4 [RCV000504117]|Early infantile epileptic encephalopathy 4 [RCV000779652]|Infantile epilepsy syndrome [RCV001265518]|Infantile epileptic dyskinetic encephalopathy [RCV000796167]|not provided [RCV000180590] |
Chr9:127666206 [GRCh38] Chr9:130428485 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_003165.4(STXBP1):c.1029+1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000193347] |
Chr9:127672117 [GRCh38] Chr9:130434396 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1231T>C (p.Tyr411His) |
single nucleotide variant |
not specified [RCV000193990] |
Chr9:127675924 [GRCh38] Chr9:130438203 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.38-30CT[7] |
microsatellite |
not specified [RCV000189581] |
Chr9:127651573..127651574 [GRCh38] Chr9:130413852..130413853 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.1548-7_1548-4del |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV000636599]|not specified [RCV000189591] |
Chr9:127682396..127682399 [GRCh38] Chr9:130444675..130444678 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.87+1G>A |
single nucleotide variant |
not provided [RCV000189593] |
Chr9:127651653 [GRCh38] Chr9:130413932 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.88-2A>C |
single nucleotide variant |
not provided [RCV000189594] |
Chr9:127653713 [GRCh38] Chr9:130415992 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.224A>G (p.Tyr75Cys) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265425] |
Chr9:127658429 [GRCh38] Chr9:130420708 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000416131]|Infantile epileptic dyskinetic encephalopathy [RCV001061798]|Intellectual disability [RCV001260844]|Seizures [RCV000851509]|not provided [RCV000189597] |
Chr9:127661192 [GRCh38] Chr9:130423471 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.430-1G>T |
single nucleotide variant |
not provided [RCV000189598] |
Chr9:127663204 [GRCh38] Chr9:130425483 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000415749]|Infantile epilepsy syndrome [RCV001265515]|Infantile epileptic dyskinetic encephalopathy [RCV000548823]|not provided [RCV000189599] |
Chr9:127663343 [GRCh38] Chr9:130425622 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.569G>A (p.Arg190Gln) |
single nucleotide variant |
Autistic disorder of childhood onset [RCV001003592]|Infantile epileptic dyskinetic encephalopathy [RCV000796165]|not provided [RCV000189600] |
Chr9:127663344 [GRCh38] Chr9:130425623 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic|uncertain significance |
NM_003165.4(STXBP1):c.578+1G>T |
single nucleotide variant |
not provided [RCV000189601] |
Chr9:127663354 [GRCh38] Chr9:130425633 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1093C>T (p.Leu365Phe) |
single nucleotide variant |
not provided [RCV000189602] |
Chr9:127673244 [GRCh38] Chr9:130435523 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000415997]|Infantile epilepsy syndrome [RCV001265520]|Infantile epileptic dyskinetic encephalopathy [RCV000819097]|not provided [RCV000189604] |
Chr9:127666205 [GRCh38] Chr9:130428484 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.3(STXBP1):c.795-1G>A |
single nucleotide variant |
not provided [RCV000189605] |
Chr9:127668079 [GRCh38] Chr9:130430358 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.6(STXBP1):c.875G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000416099]|Inborn genetic diseases [RCV000623542]|Infantile epilepsy syndrome [RCV001265522]|Infantile epileptic dyskinetic encephalopathy [RCV000636416]|not provided [RCV000189606] |
Chr9:127668160 [GRCh38] Chr9:130430439 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.904G>T (p.Glu302Ter) |
single nucleotide variant |
not provided [RCV000189607] |
Chr9:127669899 [GRCh38] Chr9:130432178 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.997A>G (p.Lys333Glu) |
single nucleotide variant |
not provided [RCV000189608] |
Chr9:127672084 [GRCh38] Chr9:130434363 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1030-1G>T |
single nucleotide variant |
not provided [RCV000189609] |
Chr9:127673180 [GRCh38] Chr9:130435459 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1061G>A (p.Cys354Tyr) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265298]|not provided [RCV000189610] |
Chr9:127673212 [GRCh38] Chr9:130435491 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) |
single nucleotide variant |
Epileptic encephalopathy [RCV000416987]|Infantile epilepsy syndrome [RCV001265514]|Infantile epileptic dyskinetic encephalopathy [RCV000477371]|Intellectual disability [RCV001260836]|not provided [RCV000189611] |
Chr9:127673250 [GRCh38] Chr9:130435529 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1216C>T (p.Arg406Cys) |
single nucleotide variant |
Epileptic encephalopathy [RCV000417024]|Infantile epilepsy syndrome [RCV001265293]|Infantile epileptic dyskinetic encephalopathy [RCV000636419]|not provided [RCV000189614] |
Chr9:127675909 [GRCh38] Chr9:130438188 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000415832]|Infantile epileptic dyskinetic encephalopathy [RCV000471170]|Intellectual disability [RCV001260800]|not provided [RCV000189615] |
Chr9:127678510 [GRCh38] Chr9:130440789 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1250G>A (p.Gly417Asp) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636282]|not specified [RCV000189616] |
Chr9:127676644 [GRCh38] Chr9:130438923 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1359+1G>A |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001204641]|not provided [RCV000189618] |
Chr9:127676754 [GRCh38] Chr9:130439033 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.3(STXBP1):c.1373G>A (p.Arg458His) |
single nucleotide variant |
not specified [RCV000189619] |
Chr9:127678444 [GRCh38] Chr9:130440723 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1514G>A (p.Arg505His) |
single nucleotide variant |
not provided [RCV000189620] |
Chr9:127680209 [GRCh38] Chr9:130442488 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1651C>A (p.Arg551Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000789013]|not provided [RCV000189622] |
Chr9:127682509 [GRCh38] Chr9:130444788 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000415936]|Infantile epilepsy syndrome [RCV001265516]|Infantile epileptic dyskinetic encephalopathy [RCV001071757]|not provided [RCV000189623] |
Chr9:127682509 [GRCh38] Chr9:130444788 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1652G>C (p.Arg551Pro) |
single nucleotide variant |
not provided [RCV000189624] |
Chr9:127682510 [GRCh38] Chr9:130444789 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.3(STXBP1):c.1663G>T (p.Glu555Ter) |
single nucleotide variant |
not provided [RCV000189625] |
Chr9:127682521 [GRCh38] Chr9:130444800 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1672C>T (p.Gln558Ter) |
single nucleotide variant |
not provided [RCV000189626] |
Chr9:127682530 [GRCh38] Chr9:130444809 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1702+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001253119]|Infantile epilepsy syndrome [RCV001265152]|Infantile epileptic dyskinetic encephalopathy [RCV000796895]|STXBP1-associated neurodevelopmental disorder [RCV000578282]|not provided [RCV000189627] |
Chr9:127682561 [GRCh38] Chr9:130444840 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.36G>C (p.Glu12Asp) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001218642]|not provided [RCV000189628] |
Chr9:127612439 [GRCh38] Chr9:130374718 [GRCh37] Chr9:9q34.11 |
benign|uncertain significance |
NM_003165.4(STXBP1):c.37+3A>T |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265153]|not provided [RCV000189629] |
Chr9:127612443 [GRCh38] Chr9:130374722 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.124del (p.Ser42fs) |
deletion |
not provided [RCV000189630] |
Chr9:127653751 [GRCh38] Chr9:130416030 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.125_127CCT[1] (p.Ser43del) |
microsatellite |
Early infantile epileptic encephalopathy 4 [RCV001262403]|Early onset epileptic encephalopathy [RCV000509384]|not specified [RCV000189631] |
Chr9:127653751..127653753 [GRCh38] Chr9:130416030..130416032 [GRCh37] Chr9:9q34.11 |
uncertain significance|not provided |
NM_003165.4(STXBP1):c.578+1dup |
duplication |
not provided [RCV000189632] |
Chr9:127663349..127663350 [GRCh38] Chr9:130425628..130425629 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.895_896GT[1] (p.Ser300fs) |
microsatellite |
not provided [RCV000189633] |
Chr9:127668180..127668181 [GRCh38] Chr9:130430459..130430460 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1169_1175dup (p.Ile393fs) |
duplication |
not provided [RCV000189634] |
Chr9:127675861..127675862 [GRCh38] Chr9:130438140..130438141 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1296dup (p.Pro433fs) |
duplication |
not provided [RCV000189635] |
Chr9:127676689..127676690 [GRCh38] Chr9:130438968..130438969 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1611_1613CAT[1] (p.Ile539del) |
microsatellite |
not provided [RCV000189636] |
Chr9:127682468..127682470 [GRCh38] Chr9:130444747..130444749 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.3(STXBP1):c.167C>G (p.Thr56Arg) |
single nucleotide variant |
not provided [RCV000189637] |
Chr9:127653794 [GRCh38] Chr9:130416073 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.703C>G (p.Arg235Gly) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000549629] |
Chr9:127666205 [GRCh38] Chr9:130428484 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.3(STXBP1):c.815G>A (p.Gly272Glu) |
single nucleotide variant |
not specified [RCV000189639] |
Chr9:127668100 [GRCh38] Chr9:130430379 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.3(STXBP1):c.1370G>A (p.Arg457His) |
single nucleotide variant |
not specified [RCV000189640] |
Chr9:127678441 [GRCh38] Chr9:130440720 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.386_387CT[1] (p.Leu130fs) |
microsatellite |
not provided [RCV000189641] |
Chr9:127661162..127661163 [GRCh38] Chr9:130423441..130423442 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1470del (p.Ile490fs) |
deletion |
not provided [RCV000189643] |
Chr9:127680164 [GRCh38] Chr9:130442443 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1510del (p.Thr504fs) |
deletion |
not provided [RCV000189644] |
Chr9:127680205 [GRCh38] Chr9:130442484 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.*40del |
deletion |
not provided [RCV000189645] |
Chr9:127690798 [GRCh38] Chr9:130453077 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.170-9G>T |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000865659]|not specified [RCV000189582] |
Chr9:127658366 [GRCh38] Chr9:130420645 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.246+15A>G |
single nucleotide variant |
not specified [RCV000189583] |
Chr9:127658466 [GRCh38] Chr9:130420745 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.250G>A (p.Val84Ile) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720037]|Infantile epileptic dyskinetic encephalopathy [RCV001088539]|not provided [RCV000698059]|not specified [RCV000189584] |
Chr9:127660033 [GRCh38] Chr9:130422312 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003165.4(STXBP1):c.281C>T (p.Pro94Leu) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720367]|Infantile epileptic dyskinetic encephalopathy [RCV001080320]|not provided [RCV000713555]|not specified [RCV000189585] |
Chr9:127660064 [GRCh38] Chr9:130422343 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.430-9C>T |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000560296]|not specified [RCV000189586] |
Chr9:127663196 [GRCh38] Chr9:130425475 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.681C>G (p.Arg227=) |
single nucleotide variant |
not provided [RCV000878050]|not specified [RCV000189587] |
Chr9:127666183 [GRCh38] Chr9:130428462 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.807C>T (p.Ser269=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000227536]|not specified [RCV000189588] |
Chr9:127668092 [GRCh38] Chr9:130430371 [GRCh37] Chr9:9q34.11 |
likely pathogenic|benign|uncertain significance |
NM_003165.4(STXBP1):c.1249+9G>A |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000860846]|not specified [RCV000189589] |
Chr9:127675951 [GRCh38] Chr9:130438230 [GRCh37] Chr9:9q34.11 |
benign|likely benign |
NM_003165.4(STXBP1):c.1385C>T (p.Pro462Leu) |
single nucleotide variant |
not provided [RCV001288019]|not specified [RCV000189590] |
Chr9:127678456 [GRCh38] Chr9:130440735 [GRCh37] Chr9:9q34.11 |
likely benign|uncertain significance |
NM_003165.4(STXBP1):c.619G>A (p.Asp207Asn) |
single nucleotide variant |
not provided [RCV000189603] |
Chr9:127665287 [GRCh38] Chr9:130427566 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1193A>G (p.Asn398Ser) |
single nucleotide variant |
not provided [RCV000189613] |
Chr9:127675886 [GRCh38] Chr9:130438165 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1256C>T (p.Thr419Met) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001088784]|not provided [RCV000189617] |
Chr9:127676650 [GRCh38] Chr9:130438929 [GRCh37] Chr9:9q34.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003165.4(STXBP1):c.1607G>A (p.Arg536His) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720813]|Infantile epileptic dyskinetic encephalopathy [RCV001241309]|not specified [RCV000500216] |
Chr9:127682465 [GRCh38] Chr9:130444744 [GRCh37] Chr9:9q34.11 |
pathogenic|uncertain significance |
GRCh37/hg19 9q34.11(chr9:130430429-130430704)x1 |
copy number loss |
See cases [RCV000240173] |
Chr9:130430429..130430704 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.798T>G (p.Tyr266Ter) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000232712] |
Chr9:127668083 [GRCh38] Chr9:130430362 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1548-18TC[3] |
microsatellite |
not specified [RCV000600901] |
Chr9:127682388..127682391 [GRCh38] Chr9:130444667..130444670 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.417G>T (p.Pro139=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716822]|Infantile epileptic dyskinetic encephalopathy [RCV000636478]|not specified [RCV000600250] |
Chr9:127661193 [GRCh38] Chr9:130423472 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.170-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000680109]|Infantile epilepsy syndrome [RCV001265147]|not provided [RCV000578961] |
Chr9:127658373 [GRCh38] Chr9:130420652 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003165.4(STXBP1):c.1404C>A (p.Ile468=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720376]|Infantile epileptic dyskinetic encephalopathy [RCV001083430]|not provided [RCV000725948]|not specified [RCV000251078] |
Chr9:127678475 [GRCh38] Chr9:130440754 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 9q34.11(chr9:130373225-130453427)x1 |
copy number loss |
See cases [RCV000240279] |
Chr9:130373225..130453427 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh37/hg19 9q34.11(chr9:130415943-130420935)x1 |
copy number loss |
See cases [RCV000240559] |
Chr9:130415943..130420935 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.30C>T (p.Val10=) |
single nucleotide variant |
not specified [RCV000243090] |
Chr9:127612433 [GRCh38] Chr9:130374712 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.3(STXBP1):c.88-?_963+?dup |
duplication |
Infantile epileptic dyskinetic encephalopathy [RCV000239849] |
|
uncertain significance |
GRCh37/hg19 9q34.11(chr9:130420443-130420935)x1 |
copy number loss |
See cases [RCV000240315] |
Chr9:130420443..130420935 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1540G>A (p.Ala514Thr) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000530135] |
Chr9:127680235 [GRCh38] Chr9:130442514 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.*911_*914del |
deletion |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000321326] |
Chr9:127691666..127691669 [GRCh38] Chr9:130453945..130453948 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.-89G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000394718] |
Chr9:127612315 [GRCh38] Chr9:130374594 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*879G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000268614] |
Chr9:127691637 [GRCh38] Chr9:130453916 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.*1732C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000396064] |
Chr9:127692490 [GRCh38] Chr9:130454769 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*1316C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000372411] |
Chr9:127692074 [GRCh38] Chr9:130454353 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*405G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000397806] |
Chr9:127691163 [GRCh38] Chr9:130453442 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.17-11G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000349243] |
Chr9:127690764 [GRCh38] Chr9:130453043 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.*497T>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000308507] |
Chr9:127691255 [GRCh38] Chr9:130453534 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*1596G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000291210] |
Chr9:127692354 [GRCh38] Chr9:130454633 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*254C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000309542] |
Chr9:127691012 [GRCh38] Chr9:130453291 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719597]|Infantile epileptic dyskinetic encephalopathy [RCV001080534]|not provided [RCV000726837]|not specified [RCV000516890] |
Chr9:127676714 [GRCh38] Chr9:130438993 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003165.4(STXBP1):c.*1516T>C |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000292315] |
Chr9:127692274 [GRCh38] Chr9:130454553 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.*1464C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000332890] |
Chr9:127692222 [GRCh38] Chr9:130454501 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*1581G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000403171] |
Chr9:127692339 [GRCh38] Chr9:130454618 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.255C>T (p.His85=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000942664]|not specified [RCV000605729] |
Chr9:127660038 [GRCh38] Chr9:130422317 [GRCh37] Chr9:9q34.11 |
likely benign|uncertain significance |
NM_003165.4(STXBP1):c.*878C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000360951] |
Chr9:127691636 [GRCh38] Chr9:130453915 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.*1422G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000280229] |
Chr9:127692180 [GRCh38] Chr9:130454459 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001374309.2(STXBP1):c.-6+163G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000340375] |
Chr9:127612210 [GRCh38] Chr9:130374489 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*1484C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000389015] |
Chr9:127692242 [GRCh38] Chr9:130454521 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*1640C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000343792] |
Chr9:127692398 [GRCh38] Chr9:130454677 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.*316C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000366697] |
Chr9:127691074 [GRCh38] Chr9:130453353 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.708C>T (p.Gly236=) |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000271362] |
Chr9:127666210 [GRCh38] Chr9:130428489 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.902+1G>C |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265146]|not provided [RCV000321668] |
Chr9:127668188 [GRCh38] Chr9:130430467 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.*1057A>G |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000262644] |
Chr9:127691815 [GRCh38] Chr9:130454094 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1060T>C (p.Cys354Arg) |
single nucleotide variant |
not provided [RCV000331872] |
Chr9:127673211 [GRCh38] Chr9:130435490 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.124T>C (p.Ser42Pro) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265295]|Infantile epileptic dyskinetic encephalopathy [RCV000792098]|not provided [RCV000334893] |
Chr9:127653751 [GRCh38] Chr9:130416030 [GRCh37] Chr9:9q34.11 |
pathogenic|uncertain significance |
NM_003165.4(STXBP1):c.634delinsCAACAATGATG (p.Tyr212delinsGlnGlnTer) |
indel |
not provided [RCV000346123] |
Chr9:127665302 [GRCh38] Chr9:130427581 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.662dup (p.Asp224fs) |
duplication |
not provided [RCV000347691] |
Chr9:127665329..127665330 [GRCh38] Chr9:130427608..130427609 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.400_401del (p.Asn134fs) |
deletion |
not provided [RCV000352406] |
Chr9:127661176..127661177 [GRCh38] Chr9:130423455..130423456 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000416146]|Inborn genetic diseases [RCV000622955]|Infantile epilepsy syndrome [RCV001265512]|Infantile epileptic dyskinetic encephalopathy [RCV000458588]|not provided [RCV000369586] |
Chr9:127675910 [GRCh38] Chr9:130438189 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.1335C>T (p.His445=) |
single nucleotide variant |
not provided [RCV000329442] |
Chr9:127676729 [GRCh38] Chr9:130439008 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.695T>A (p.Ile232Asn) |
single nucleotide variant |
not provided [RCV000489440] |
Chr9:127666197 [GRCh38] Chr9:130428476 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1461G>C (p.Glu487Asp) |
single nucleotide variant |
not provided [RCV000523962] |
Chr9:127678532 [GRCh38] Chr9:130440811 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.107T>G (p.Leu36Ter) |
single nucleotide variant |
not provided [RCV000489814] |
Chr9:127653734 [GRCh38] Chr9:130416013 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.914G>A (p.Arg305Gln) |
single nucleotide variant |
not provided [RCV000489961] |
Chr9:127669909 [GRCh38] Chr9:130432188 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1003C>T (p.Pro335Ser) |
single nucleotide variant |
not provided [RCV000489992] |
Chr9:127672090 [GRCh38] Chr9:130434369 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.963+1G>T |
single nucleotide variant |
not provided [RCV000490148] |
Chr9:127669959 [GRCh38] Chr9:130432238 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.*1836A>G |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000304101] |
Chr9:127692594 [GRCh38] Chr9:130454873 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.*1543T>G |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000349620] |
Chr9:127692301 [GRCh38] Chr9:130454580 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.*1073G>A |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000320031] |
Chr9:127691831 [GRCh38] Chr9:130454110 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.767_769TGC[3] (p.Leu257dup) |
microsatellite |
not provided [RCV000521817] |
Chr9:127666267..127666268 [GRCh38] Chr9:130428546..130428547 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_001374309.2(STXBP1):c.-6+162C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000285509] |
Chr9:127612209 [GRCh38] Chr9:130374488 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.-91C>G |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000337067] |
Chr9:127612313 [GRCh38] Chr9:130374592 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.791A>G (p.Tyr264Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000585735]|Intellectual disability [RCV001260852] |
Chr9:127666293 [GRCh38] Chr9:130428572 [GRCh37] Chr9:9q34.11 |
likely pathogenic|uncertain significance |
NM_003165.4(STXBP1):c.1110+6A>T |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001050427] |
Chr9:127673267 [GRCh38] Chr9:130435546 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_001374309.2(STXBP1):c.-6+200C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000394838] |
Chr9:127612247 [GRCh38] Chr9:130374526 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.-117T>C |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000300880] |
Chr9:127612287 [GRCh38] Chr9:130374566 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.*941G>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000359689] |
Chr9:127691699 [GRCh38] Chr9:130453978 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.*166C>T |
single nucleotide variant |
Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000397819] |
Chr9:127690924 [GRCh38] Chr9:130453203 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.639dup (p.Ala214fs) |
duplication |
Inborn genetic diseases [RCV000624056] |
Chr9:127665304..127665305 [GRCh38] Chr9:130427583..130427584 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.88-2A>G |
single nucleotide variant |
not provided [RCV000579020] |
Chr9:127653713 [GRCh38] Chr9:130415992 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1702+9C>T |
single nucleotide variant |
not specified [RCV000605455] |
Chr9:127682569 [GRCh38] Chr9:130444848 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1075C>T (p.Gln359Ter) |
single nucleotide variant |
not provided [RCV000579060] |
Chr9:127673226 [GRCh38] Chr9:130435505 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1569_1570del (p.His523fs) |
deletion |
Infantile epilepsy syndrome [RCV001265421]|not provided [RCV000599504] |
Chr9:127682426..127682427 [GRCh38] Chr9:130444705..130444706 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1250-7C>T |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000552047] |
Chr9:127676637 [GRCh38] Chr9:130438916 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.794+1G>A |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001214993]|not provided [RCV000596140] |
Chr9:127666297 [GRCh38] Chr9:130428576 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.675G>A (p.Lys225=) |
single nucleotide variant |
not specified [RCV000603779] |
Chr9:127666177 [GRCh38] Chr9:130428456 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001032221.4(STXBP1):c.1702+1912G>T |
single nucleotide variant |
not provided [RCV000591194] |
Chr9:127684472 [GRCh38] Chr9:130446751 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1168A>G (p.Ile390Val) |
single nucleotide variant |
not provided [RCV000656248] |
Chr9:127675861 [GRCh38] Chr9:130438140 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1454T>A (p.Ile485Asn) |
single nucleotide variant |
not provided [RCV000731273] |
Chr9:127678525 [GRCh38] Chr9:130440804 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1082C>T (p.Thr361Ile) |
single nucleotide variant |
Epileptic encephalopathy [RCV000415156] |
Chr9:127673233 [GRCh38] Chr9:130435512 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1249+1G>C |
single nucleotide variant |
not provided [RCV000416098] |
Chr9:127675943 [GRCh38] Chr9:130438222 [GRCh37] Chr9:9q34.11 |
pathogenic|uncertain significance |
NM_003165.4(STXBP1):c.1360-2A>T |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000553132] |
Chr9:127678429 [GRCh38] Chr9:130440708 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1072del (p.Tyr358fs) |
deletion |
Severe intellectual deficiency [RCV000415268] |
Chr9:127673222 [GRCh38] Chr9:130435501 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.902+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000415793] |
Chr9:127668188 [GRCh38] Chr9:130430467 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1213A>G (p.Ile405Val) |
single nucleotide variant |
not provided [RCV000523988] |
Chr9:127675906 [GRCh38] Chr9:130438185 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1549G>T (p.Ala517Ser) |
single nucleotide variant |
not provided [RCV000412866] |
Chr9:127682407 [GRCh38] Chr9:130444686 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_001374309.2(STXBP1):c.-6+388GA[2] |
microsatellite |
not provided [RCV000413061] |
Chr9:127612435..127612436 [GRCh38] Chr9:130374714..130374715 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.148dup (p.Ile50fs) |
duplication |
not provided [RCV000413558] |
Chr9:127653774..127653775 [GRCh38] Chr9:130416053..130416054 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1093_1094CT[1] (p.Cys366fs) |
microsatellite |
not provided [RCV000413787] |
Chr9:127673244..127673245 [GRCh38] Chr9:130435523..130435524 [GRCh37] Chr9:9q34.11 |
pathogenic |
NC_000009.12:g.(?_127658355)_(127658471_?)del |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV000558692] |
Chr9:127658355..127658471 [GRCh38] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.877C>T (p.His293Tyr) |
single nucleotide variant |
not provided [RCV000414192] |
Chr9:127668162 [GRCh38] Chr9:130430441 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1652G>T (p.Arg551Leu) |
single nucleotide variant |
not provided [RCV000414301] |
Chr9:127682510 [GRCh38] Chr9:130444789 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1012C>T (p.Gln338Ter) |
single nucleotide variant |
not provided [RCV000414453] |
Chr9:127672099 [GRCh38] Chr9:130434378 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
See cases [RCV000447207] |
Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 |
copy number loss |
See cases [RCV000447376] |
Chr9:129079208..130851795 [GRCh37] Chr9:9q33.3-34.11 |
pathogenic |
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 |
copy number gain |
See cases [RCV000447080] |
Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3 |
pathogenic |
NM_003165.4(STXBP1):c.247-13C>G |
single nucleotide variant |
not specified [RCV000427197] |
Chr9:127660017 [GRCh38] Chr9:130422296 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1287C>T (p.His429=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000528210]|not specified [RCV000430899] |
Chr9:127676681 [GRCh38] Chr9:130438960 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.794+5G>A |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265150]|not provided [RCV000444271] |
Chr9:127666301 [GRCh38] Chr9:130428580 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.767T>C (p.Leu256Pro) |
single nucleotide variant |
not provided [RCV000444312] |
Chr9:127666269 [GRCh38] Chr9:130428548 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.174G>T (p.Val58=) |
single nucleotide variant |
not provided [RCV000423951] |
Chr9:127658379 [GRCh38] Chr9:130420658 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.902+18C>G |
single nucleotide variant |
not specified [RCV000431236] |
Chr9:127668205 [GRCh38] Chr9:130430484 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.855C>T (p.Asp285=) |
single nucleotide variant |
not specified [RCV000431299] |
Chr9:127668140 [GRCh38] Chr9:130430419 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1250-20C>T |
single nucleotide variant |
not specified [RCV000441499] |
Chr9:127676624 [GRCh38] Chr9:130438903 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1302G>A (p.Pro434=) |
single nucleotide variant |
not specified [RCV000420984] |
Chr9:127676696 [GRCh38] Chr9:130438975 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.237A>T (p.Pro79=) |
single nucleotide variant |
not specified [RCV000424064] |
Chr9:127658442 [GRCh38] Chr9:130420721 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.768G>T (p.Leu256=) |
single nucleotide variant |
not specified [RCV000434689] |
Chr9:127666270 [GRCh38] Chr9:130428549 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1722T>A (p.Thr574=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000555034]|not specified [RCV000428080] |
Chr9:127684387 [GRCh38] Chr9:130446666 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.249C>T (p.Ser83=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000915341]|not specified [RCV000442313] |
Chr9:127660032 [GRCh38] Chr9:130422311 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.169+18A>C |
single nucleotide variant |
not specified [RCV000418525] |
Chr9:127653814 [GRCh38] Chr9:130416093 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.37+19C>T |
single nucleotide variant |
not specified [RCV000428313] |
Chr9:127612459 [GRCh38] Chr9:130374738 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1249+9G>C |
single nucleotide variant |
not provided [RCV000872399]|not specified [RCV000428321] |
Chr9:127675951 [GRCh38] Chr9:130438230 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.531G>A (p.Ala177=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000536193]|not specified [RCV000438796] |
Chr9:127663306 [GRCh38] Chr9:130425585 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.795-14C>T |
single nucleotide variant |
not specified [RCV000432006] |
Chr9:127668066 [GRCh38] Chr9:130430345 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1250-19G>A |
single nucleotide variant |
not specified [RCV000439002] |
Chr9:127676625 [GRCh38] Chr9:130438904 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.1351G>A (p.Val451Ile) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716428]|Infantile epileptic dyskinetic encephalopathy [RCV001089280]|not provided [RCV000422875]|not specified [RCV000480717] |
Chr9:127676745 [GRCh38] Chr9:130439024 [GRCh37] Chr9:9q34.11 |
benign|likely benign|uncertain significance |
NM_003165.4(STXBP1):c.902+11C>G |
single nucleotide variant |
not specified [RCV000428937] |
Chr9:127668198 [GRCh38] Chr9:130430477 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1659C>T (p.Ala553=) |
single nucleotide variant |
not specified [RCV000439339] |
Chr9:127682517 [GRCh38] Chr9:130444796 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.579-2A>G |
single nucleotide variant |
not provided [RCV000423631] |
Chr9:127665245 [GRCh38] Chr9:130427524 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.964-5T>A |
single nucleotide variant |
not specified [RCV000439709] |
Chr9:127672046 [GRCh38] Chr9:130434325 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1548-15C>A |
single nucleotide variant |
not specified [RCV000439720] |
Chr9:127682391 [GRCh38] Chr9:130444670 [GRCh37] Chr9:9q34.11 |
benign |
NM_003165.4(STXBP1):c.1689G>A (p.Trp563Ter) |
single nucleotide variant |
not provided [RCV000427600] |
Chr9:127682547 [GRCh38] Chr9:130444826 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1461+12G>A |
single nucleotide variant |
not specified [RCV000422357] |
Chr9:127678544 [GRCh38] Chr9:130440823 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1642A>G (p.Asn548Asp) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265344]|not provided [RCV000430934] |
Chr9:127682500 [GRCh38] Chr9:130444779 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1462-13C>G |
single nucleotide variant |
not specified [RCV000422535] |
Chr9:127680144 [GRCh38] Chr9:130442423 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1703-9C>T |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636509]|not specified [RCV000430096] |
Chr9:127684359 [GRCh38] Chr9:130446638 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.156C>T (p.Thr52=) |
single nucleotide variant |
not specified [RCV000436886] |
Chr9:127653783 [GRCh38] Chr9:130416062 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.552G>A (p.Lys184=) |
single nucleotide variant |
not specified [RCV000422942] |
Chr9:127663327 [GRCh38] Chr9:130425606 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.88-17G>A |
single nucleotide variant |
not specified [RCV000426657] |
Chr9:127653698 [GRCh38] Chr9:130415977 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1359+16A>C |
single nucleotide variant |
not specified [RCV000430289] |
Chr9:127676769 [GRCh38] Chr9:130439048 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1107G>A (p.Glu369=) |
single nucleotide variant |
not specified [RCV000444203] |
Chr9:127673258 [GRCh38] Chr9:130435537 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.743C>T (p.Thr248Ile) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265299]|not provided [RCV000436434] |
Chr9:127666245 [GRCh38] Chr9:130428524 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.903-4C>G |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000556322]|not specified [RCV000420337] |
Chr9:127669894 [GRCh38] Chr9:130432173 [GRCh37] Chr9:9q34.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_003165.4(STXBP1):c.1360-2A>G |
single nucleotide variant |
not provided [RCV000438565] |
Chr9:127678429 [GRCh38] Chr9:130440708 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.429+12T>C |
single nucleotide variant |
not specified [RCV000423367] |
Chr9:127661217 [GRCh38] Chr9:130423496 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.326-4G>A |
single nucleotide variant |
not specified [RCV000437391] |
Chr9:127661098 [GRCh38] Chr9:130423377 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.902+19C>A |
single nucleotide variant |
not specified [RCV000441074] |
Chr9:127668206 [GRCh38] Chr9:130430485 [GRCh37] Chr9:9q34.11 |
likely benign |
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 |
copy number loss |
See cases [RCV000445837] |
Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 |
copy number gain |
See cases [RCV000448784] |
Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
NM_003165.4(STXBP1):c.1006C>T (p.Gln336Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000416539] |
Chr9:127672093 [GRCh38] Chr9:130434372 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet) |
deletion |
Epileptic encephalopathy [RCV000417033]|not provided [RCV001268795] |
Chr9:127651622..127651624 [GRCh38] Chr9:130413901..130413903 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1408G>T (p.Glu470Ter) |
single nucleotide variant |
Epileptic encephalopathy [RCV000416969] |
Chr9:127678479 [GRCh38] Chr9:130440758 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1565G>A (p.Trp522Ter) |
single nucleotide variant |
Epileptic encephalopathy [RCV000416996] |
Chr9:127682423 [GRCh38] Chr9:130444702 [GRCh37] Chr9:9q34.11 |
pathogenic |
Single allele |
duplication |
Epileptic encephalopathy [RCV000416971] |
Chr9:127659781..127677280 [GRCh38] Chr9:130422060..130439559 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1365G>A (p.Thr455=) |
single nucleotide variant |
not provided [RCV000466647] |
Chr9:127678436 [GRCh38] Chr9:130440715 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.84G>A (p.Trp28Ter) |
single nucleotide variant |
not provided [RCV000481498] |
Chr9:127651649 [GRCh38] Chr9:130413928 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.420T>A (p.Tyr140Ter) |
single nucleotide variant |
not provided [RCV000481583] |
Chr9:127661196 [GRCh38] Chr9:130423475 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.265del (p.Ser89fs) |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV000470907] |
Chr9:127660048 [GRCh38] Chr9:130422327 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.964-13dup |
duplication |
not specified [RCV000484590] |
Chr9:127672036..127672037 [GRCh38] Chr9:130434315..130434316 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.385A>C (p.Thr129Pro) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000456399] |
Chr9:127661161 [GRCh38] Chr9:130423440 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.748C>T (p.Gln250Ter) |
single nucleotide variant |
not provided [RCV000483425] |
Chr9:127666250 [GRCh38] Chr9:130428529 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1434G>A (p.Trp478Ter) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000464099] |
Chr9:127678505 [GRCh38] Chr9:130440784 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1204del (p.Tyr402fs) |
deletion |
not provided [RCV000483959] |
Chr9:127675896 [GRCh38] Chr9:130438175 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.709_715del (p.Phe237fs) |
deletion |
not provided [RCV000484057] |
Chr9:127666210..127666216 [GRCh38] Chr9:130428489..130428495 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1338C>T (p.Leu446=) |
single nucleotide variant |
not provided [RCV000472167] |
Chr9:127676732 [GRCh38] Chr9:130439011 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.889G>A (p.Ala297Thr) |
single nucleotide variant |
not provided [RCV000485374] |
Chr9:127668174 [GRCh38] Chr9:130430453 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.247-9dup |
duplication |
not specified [RCV000482000] |
Chr9:127660014..127660015 [GRCh38] Chr9:130422293..130422294 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.579G>A (p.Gly193=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000465387] |
Chr9:127665247 [GRCh38] Chr9:130427526 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1217G>T (p.Arg406Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001089744]|not provided [RCV000478807] |
Chr9:127675910 [GRCh38] Chr9:130438189 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic |
NM_003165.4(STXBP1):c.256_257TC[4] (p.Ile88fs) |
microsatellite |
Early infantile epileptic encephalopathy 4 [RCV001004751]|Infantile epilepsy syndrome [RCV001265294]|not provided [RCV000486113] |
Chr9:127660037..127660038 [GRCh38] Chr9:130422316..130422317 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.974G>A (p.Arg325Gln) |
single nucleotide variant |
not specified [RCV000523418] |
Chr9:127672061 [GRCh38] Chr9:130434340 [GRCh37] Chr9:9q34.11 |
likely benign|uncertain significance |
NM_003165.4(STXBP1):c.169+10C>T |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000461793] |
Chr9:127653806 [GRCh38] Chr9:130416085 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.964-15del |
deletion |
not specified [RCV000486972] |
Chr9:127672034 [GRCh38] Chr9:130434313 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1288G>A (p.Ala430Thr) |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265511]|not provided [RCV000478988] |
Chr9:127676682 [GRCh38] Chr9:130438961 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_001032221.4(STXBP1):c.87+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000503704] |
Chr9:127651654 [GRCh38] Chr9:130413933 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1755C>T (p.Pro585=) |
single nucleotide variant |
not specified [RCV000503790] |
Chr9:127684420 [GRCh38] Chr9:130446699 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_001032221.4(STXBP1):c.1706C>T (p.Ser569Phe) |
single nucleotide variant |
Non-syndromic intellectual disability [RCV000496201] |
Chr9:127690778 [GRCh38] Chr9:130453057 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.575G>A (p.Arg192Gln) |
single nucleotide variant |
not specified [RCV000503899] |
Chr9:127663350 [GRCh38] Chr9:130425629 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1257G>A (p.Thr419=) |
single nucleotide variant |
not provided [RCV001091117]|not specified [RCV000499576] |
Chr9:127676651 [GRCh38] Chr9:130438930 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.78_79del (p.Glu27fs) |
deletion |
not provided [RCV000509434] |
Chr9:127651640..127651641 [GRCh38] Chr9:130413919..130413920 [GRCh37] Chr9:9q34.11 |
not provided |
NM_001032221.4(STXBP1):c.635A>G (p.Tyr212Cys) |
single nucleotide variant |
not specified [RCV000500673] |
Chr9:127665303 [GRCh38] Chr9:130427582 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1681G>A (p.Gly561Arg) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001066803]|not provided [RCV000498493] |
Chr9:127682539 [GRCh38] Chr9:130444818 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1754C>A (p.Pro585His) |
single nucleotide variant |
not provided [RCV000498557] |
Chr9:127684419 [GRCh38] Chr9:130446698 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1631G>T (p.Gly544Val) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000791831]|not provided [RCV000494083] |
Chr9:127682489 [GRCh38] Chr9:130444768 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.872T>C (p.Leu291Pro) |
single nucleotide variant |
not provided [RCV000494104] |
Chr9:127668157 [GRCh38] Chr9:130430436 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1708A>G (p.Thr570Ala) |
single nucleotide variant |
not provided [RCV000493328] |
Chr9:127684373 [GRCh38] Chr9:130446652 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1110G>A (p.Gln370=) |
single nucleotide variant |
Inborn genetic diseases [RCV000623191] |
Chr9:127673261 [GRCh38] Chr9:130435540 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1597del (p.Ser533fs) |
deletion |
Infantile epilepsy syndrome [RCV001265341]|not provided [RCV000521811] |
Chr9:127682455 [GRCh38] Chr9:130444734 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.683C>T (p.Ser228Phe) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636447] |
Chr9:127666185 [GRCh38] Chr9:130428464 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1359+2T>C |
single nucleotide variant |
Inborn genetic diseases [RCV000624411] |
Chr9:127676755 [GRCh38] Chr9:130439034 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.247-9del |
deletion |
not specified [RCV000604715] |
Chr9:127660015 [GRCh38] Chr9:130422294 [GRCh37] Chr9:9q34.11 |
likely benign |
NC_000009.12:g.(?_127678411)_(127690877_?)del |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV000535848] |
Chr9:127678411..127690877 [GRCh38] Chr9:130440690..130453156 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.956del (p.Gly319fs) |
deletion |
Inborn genetic diseases [RCV000623894] |
Chr9:127669950 [GRCh38] Chr9:130432229 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.733C>G (p.His245Asp) |
single nucleotide variant |
Microcephaly [RCV000626840] |
Chr9:127666235 [GRCh38] Chr9:130428514 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1349T>C (p.Ile450Thr) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636292] |
Chr9:127676743 [GRCh38] Chr9:130439022 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1593C>A (p.Tyr531Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624344] |
Chr9:127682451 [GRCh38] Chr9:130444730 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1631del (p.Gly544fs) |
deletion |
Inborn genetic diseases [RCV000624802] |
Chr9:127682485 [GRCh38] Chr9:130444764 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.247-16dup |
duplication |
not specified [RCV000602311] |
Chr9:127660009..127660010 [GRCh38] Chr9:130422288..130422289 [GRCh37] Chr9:9q34.11 |
likely benign |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) |
copy number gain |
Global developmental delay [RCV000626548] |
Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
NM_003165.4(STXBP1):c.360del (p.Lys120fs) |
deletion |
Global developmental delay [RCV000626841] |
Chr9:127661133 [GRCh38] Chr9:130423412 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.547C>T (p.Leu183=) |
single nucleotide variant |
not provided [RCV000871486]|not specified [RCV000615181] |
Chr9:127663322 [GRCh38] Chr9:130425601 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001032221.4(STXBP1):c.1763C>T (p.Thr588Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000624232] |
Chr9:127690835 [GRCh38] Chr9:130453114 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000626112]|Infantile epileptic dyskinetic encephalopathy [RCV001045780] |
Chr9:127684421 [GRCh38] Chr9:130446700 [GRCh37] Chr9:9q34.11 |
pathogenic|uncertain significance |
NM_003165.4(STXBP1):c.298del (p.Arg100fs) |
deletion |
Inborn genetic diseases [RCV000624809]|Infantile epilepsy syndrome [RCV001265343] |
Chr9:127660080 [GRCh38] Chr9:130422359 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.38-14_38-13del |
deletion |
not specified [RCV000615342] |
Chr9:127651588..127651589 [GRCh38] Chr9:130413867..130413868 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1017A>G (p.Lys339=) |
single nucleotide variant |
not specified [RCV000616018] |
Chr9:127672104 [GRCh38] Chr9:130434383 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1539C>T (p.Thr513=) |
single nucleotide variant |
not specified [RCV000616096] |
Chr9:127680234 [GRCh38] Chr9:130442513 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.25G>A (p.Val9Ile) |
single nucleotide variant |
not provided [RCV000560381] |
Chr9:127612428 [GRCh38] Chr9:130374707 [GRCh37] Chr9:9q34.11 |
benign|uncertain significance |
NM_003165.4(STXBP1):c.419A>G (p.Tyr140Cys) |
single nucleotide variant |
not specified [RCV000610309] |
Chr9:127661195 [GRCh38] Chr9:130423474 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.578+11G>T |
single nucleotide variant |
not specified [RCV000616706] |
Chr9:127663364 [GRCh38] Chr9:130425643 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.144A>C (p.Thr48=) |
single nucleotide variant |
not specified [RCV000616990] |
Chr9:127653771 [GRCh38] Chr9:130416050 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.-34G>T |
single nucleotide variant |
not specified [RCV000608492] |
Chr9:127612370 [GRCh38] Chr9:130374649 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.798T>C (p.Tyr266=) |
single nucleotide variant |
not provided [RCV000936340]|not specified [RCV000611180] |
Chr9:127668083 [GRCh38] Chr9:130430362 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.664-13T>C |
single nucleotide variant |
not specified [RCV000611186] |
Chr9:127666153 [GRCh38] Chr9:130428432 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.963G>C (p.Lys321Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV000623477] |
Chr9:127669958 [GRCh38] Chr9:130432237 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.417G>A (p.Pro139=) |
single nucleotide variant |
not specified [RCV000606535] |
Chr9:127661193 [GRCh38] Chr9:130423472 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1504A>G (p.Ile502Val) |
single nucleotide variant |
not specified [RCV000614357] |
Chr9:127680199 [GRCh38] Chr9:130442478 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.660G>A (p.Gly220=) |
single nucleotide variant |
not specified [RCV000611607] |
Chr9:127665328 [GRCh38] Chr9:130427607 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.267T>C (p.Ser89=) |
single nucleotide variant |
not specified [RCV000611929] |
Chr9:127660050 [GRCh38] Chr9:130422329 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.246+12A>G |
single nucleotide variant |
not specified [RCV000614660] |
Chr9:127658463 [GRCh38] Chr9:130420742 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1549G>A (p.Ala517Thr) |
single nucleotide variant |
not specified [RCV000604912] |
Chr9:127682407 [GRCh38] Chr9:130444686 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.169+14C>T |
single nucleotide variant |
not specified [RCV000612038] |
Chr9:127653810 [GRCh38] Chr9:130416089 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1462-12T>C |
single nucleotide variant |
not specified [RCV000601724] |
Chr9:127680145 [GRCh38] Chr9:130442424 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.73A>C (p.Lys25Gln) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636299] |
Chr9:127651638 [GRCh38] Chr9:130413917 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.628G>A (p.Asp210Asn) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636330] |
Chr9:127665296 [GRCh38] Chr9:130427575 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1683A>G (p.Gly561=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636503] |
Chr9:127682541 [GRCh38] Chr9:130444820 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1632T>C (p.Gly544=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636505] |
Chr9:127682490 [GRCh38] Chr9:130444769 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.240C>T (p.Ser80=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000636555] |
Chr9:127658445 [GRCh38] Chr9:130420724 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1606C>A (p.Arg536Ser) |
single nucleotide variant |
not provided [RCV000512995] |
Chr9:127682464 [GRCh38] Chr9:130444743 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_001032221.6(STXBP1):c.325+2_325+3del |
microsatellite |
Early infantile epileptic encephalopathy 4 [RCV000590900] |
Chr9:127660108..127660109 [GRCh38] Chr9:130422389..130422390 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.168G>A (p.Thr56=) |
single nucleotide variant |
not specified [RCV000600497] |
Chr9:127653795 [GRCh38] Chr9:130416074 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.313T>C (p.Phe105Leu) |
single nucleotide variant |
not provided [RCV000513322] |
Chr9:127660096 [GRCh38] Chr9:130422375 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1250-19G>C |
single nucleotide variant |
not specified [RCV000606279] |
Chr9:127676625 [GRCh38] Chr9:130438904 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.664-1G>A |
single nucleotide variant |
not provided [RCV000513540] |
Chr9:127666165 [GRCh38] Chr9:130428444 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.1077A>G (p.Gln359=) |
single nucleotide variant |
not specified [RCV000601134] |
Chr9:127673228 [GRCh38] Chr9:130435507 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1480C>T (p.Leu494Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV000623946] |
Chr9:127680175 [GRCh38] Chr9:130442454 [GRCh37] Chr9:9q34.11 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_003165.4(STXBP1):c.902+4A>G |
single nucleotide variant |
Infantile epilepsy syndrome [RCV001265149]|not provided [RCV000658438] |
Chr9:127668191 [GRCh38] Chr9:130430470 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_003165.4(STXBP1):c.218C>A (p.Ala73Asp) |
single nucleotide variant |
not provided [RCV000658186] |
Chr9:127658423 [GRCh38] Chr9:130420702 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000680110] |
Chr9:127663308 [GRCh38] Chr9:130425587 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.578+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000680111] |
Chr9:127663354 [GRCh38] Chr9:130425633 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000680112] |
Chr9:127651644 [GRCh38] Chr9:130413923 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.863G>T (p.Trp288Leu) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000686678] |
Chr9:127668148 [GRCh38] Chr9:130430427 [GRCh37] Chr9:9q34.11 |
uncertain significance |
GRCh37/hg19 9q34.11(chr9:130323808-130428471)x3 |
copy number gain |
not provided [RCV000683075] |
Chr9:130323808..130428471 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.692dup (p.Ile232fs) |
duplication |
Early infantile epileptic encephalopathy 4 [RCV000678382] |
Chr9:127666193..127666194 [GRCh38] Chr9:130428472..130428473 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.607C>T (p.Gln203Ter) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000687594] |
Chr9:127665275 [GRCh38] Chr9:130427554 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1325A>G (p.Asn442Ser) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000702973] |
Chr9:127676719 [GRCh38] Chr9:130438998 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.193A>G (p.Arg65Gly) |
single nucleotide variant |
not provided [RCV000713554] |
Chr9:127658398 [GRCh38] Chr9:130420677 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.29_31del (p.Val10del) |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV000692679] |
Chr9:127612431..127612433 [GRCh38] Chr9:130374710..130374712 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.817G>T (p.Glu273Ter) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000694876] |
Chr9:127668102 [GRCh38] Chr9:130430381 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1652G>A (p.Arg551His) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001270414]|Infantile epileptic dyskinetic encephalopathy [RCV000686294] |
Chr9:127682510 [GRCh38] Chr9:130444789 [GRCh37] Chr9:9q34.11 |
pathogenic|likely pathogenic|uncertain significance |
NM_003165.4(STXBP1):c.429+3G>A |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000702916] |
Chr9:127661208 [GRCh38] Chr9:130423487 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.22_32dup (p.Glu12fs) |
duplication |
Infantile epileptic dyskinetic encephalopathy [RCV000693775] |
Chr9:127612424..127612425 [GRCh38] Chr9:130374703..130374704 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.345del (p.Phe115fs) |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV000703111] |
Chr9:127661119 [GRCh38] Chr9:130423398 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.259C>G (p.Leu87Val) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000705274] |
Chr9:127660042 [GRCh38] Chr9:130422321 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NC_000009.12:g.(?_127669878)_(127669978_?)del |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV000708108] |
Chr9:127669878..127669978 [GRCh38] Chr9:130432157..130432257 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.1364C>T (p.Thr455Met) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000694421] |
Chr9:127678435 [GRCh38] Chr9:130440714 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001003469] |
Chr9:127678498 [GRCh38] Chr9:130440777 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.948G>A (p.Met316Ile) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718292] |
Chr9:127669943 [GRCh38] Chr9:130432222 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.207C>T (p.Pro69=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719434] |
Chr9:127658412 [GRCh38] Chr9:130420691 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.257C>G (p.Ser86Cys) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719809] |
Chr9:127660040 [GRCh38] Chr9:130422319 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000721133] |
Chr9:127682415 [GRCh38] Chr9:130444694 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001004708] |
Chr9:127653749 [GRCh38] Chr9:130416028 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 |
copy number loss |
not provided [RCV000748671] |
Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12 |
pathogenic |
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 |
copy number loss |
not provided [RCV000748677] |
Chr9:129522693..131410039 [GRCh37] Chr9:9q33.3-34.11 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_001032221.6(STXBP1):c.975G>A (p.Arg325=) |
single nucleotide variant |
not provided [RCV000919545] |
Chr9:127672062 [GRCh38] Chr9:130434341 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_003165.4(STXBP1):c.1427C>G (p.Ser476Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV001249693]|not provided [RCV000760854] |
Chr9:127678498 [GRCh38] Chr9:130440777 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) |
duplication |
Early infantile epileptic encephalopathy 4 [RCV000760209] |
Chr9:127680186..127680187 [GRCh38] Chr9:130442465..130442466 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_003165.4(STXBP1):c.586A>T (p.Lys196Ter) |
single nucleotide variant |
not provided [RCV000760663] |
Chr9:127665254 [GRCh38] Chr9:130427533 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.1249+1G>A |
single nucleotide variant |
Epileptic encephalopathy [RCV001003594] |
Chr9:127675943 [GRCh38] Chr9:130438222 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.579-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000988253] |
Chr9:127665246 [GRCh38] Chr9:130427525 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) |
deletion |
Early infantile epileptic encephalopathy 4 [RCV000988255] |
Chr9:127675929 [GRCh38] Chr9:130438208 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs) |
insertion |
not provided [RCV001090606] |
Chr9:127666205..127666206 [GRCh38] Chr9:130428484..130428485 [GRCh37] Chr9:9q34.11 |
pathogenic |
NC_000009.12:g.(?_127651583)_(127653816_?)del |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV001031051] |
Chr9:130413862..130416095 [GRCh37] Chr9:9q34.11 |
pathogenic |
NC_000009.12:g.(?_127672031)_(127676773_?)del |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV001031655] |
Chr9:130434310..130439052 [GRCh37] Chr9:9q34.11 |
likely pathogenic |
NM_001032221.6(STXBP1):c.222G>A (p.Val74=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000867629] |
Chr9:127658427 [GRCh38] Chr9:130420706 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001032221.6(STXBP1):c.1350C>T (p.Ile450=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000870397] |
Chr9:127676744 [GRCh38] Chr9:130439023 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001032221.6(STXBP1):c.33A>G (p.Gly11=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000983747] |
Chr9:127612436 [GRCh38] Chr9:130374715 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001032221.6(STXBP1):c.852C>T (p.Asp284=) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV000983751] |
Chr9:127668137 [GRCh38] Chr9:130430416 [GRCh37] Chr9:9q34.11 |
likely benign |
NM_001032221.6(STXBP1):c.65_76del (p.Val22_Lys25del) |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV001062406] |
Chr9:127651623..127651634 [GRCh38] Chr9:130413902..130413913 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NC_000009.12:g.(?_127612384)_(127612460_?)del |
deletion |
Infantile epileptic dyskinetic encephalopathy [RCV001033384] |
Chr9:130374663..130374739 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001061997] |
Chr9:127663349 [GRCh38] Chr9:130425628 [GRCh37] Chr9:9q34.11 |
uncertain significance |
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 4 [RCV000995656] |
Chr9:127676655 [GRCh38] Chr9:130438934 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001038009] |
Chr9:127653784 [GRCh38] Chr9:130416063 [GRCh37] Chr9:9q34.11 |
pathogenic |
NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter) |
single nucleotide variant |
Infantile epileptic dyskinetic encephalopathy [RCV001052731] |