Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)	SNV Germline	Chr9:127682489	Pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA118448	rs_121918317	3 SubmittersRCV000007118 RCV003588557
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr)	SNV Germline	Chr9:127663314	Pathogenic	Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Single Submitter	CA118450	rs_121918318	2 SubmittersRCV000007119 RCV002311507
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg)	SNV Germline	Chr9:127676722	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA118452	rs_121918319	1 SubmittersRCV000007120
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)	SNV Germline	Chr9:127660034	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA118454	rs_121918320	1 SubmittersRCV000007121
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	SNV Germline	Chr9:127675855	Pathogenic	Developmental and epileptic encephalopathy, 4 Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA118456	rs_121918321	9 SubmittersRCV000007122 RCV000189612 RCV000539734 RCV001266381 RCV001265424
NM_001032221.6(STXBP1):c.169+1G>A	SNV Germline	Chr9:127653797	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA118458	rs_587776641	3 SubmittersRCV000007123
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)	SNV Germline	Chr9:127672091	Conflicting classifications of pathogenicity	Condition: not provided Cerebellar vermis hypoplasia West syndrome Developmental and epileptic encephalopathy, 4 Congenital cerebellar hypoplasia STXBP1-related neurodevelopmental disorder Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA221967	rs_398123695	5 SubmittersRCV000080077 RCV000779645 RCV001258011 RCV001795096 RCV002514407
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	SNV Germline/somatic	Chr9:127668132	Pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA151362	rs_587777310	6 SubmittersRCV000114939 RCV000525775 RCV000440506
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)	SNV Germline	Chr9:127682538	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA173634	rs_201809337	5 SubmittersRCV000128322 RCV000147702 RCV000863608 RCV002316426 RCV004597748
NM_001032221.6(STXBP1):c.1702+10C>T	SNV Germline	Chr9:127682570	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA293799	rs_147607230	7 SubmittersRCV000128323 RCV000230027 RCV000616011 RCV003430704
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)	SNV Germline	Chr9:127663208	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA173642	rs_587784455	1 SubmittersRCV000147709
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)	SNV Germline	Chr9:127666236	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA173637	rs_587784453	4 SubmittersRCV000147705 RCV000636306 RCV001265418
NM_001032221.6(STXBP1):c.1029+1G>T	SNV Germline	Chr9:127672117	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA234988	rs_727504173	3 SubmittersRCV000595386 RCV001726006 RCV002514965
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	SNV Germline/somatic	Chr9:127668159	Pathogenic/Likely pathogenic	not specified Developmental and epileptic encephalopathy, 4 Condition: not provided Early onset epileptic encephalopathy Developmental and epileptic encephalopathy Infantile epilepsy syndrome Inborn genetic diseases Spastic ataxia West syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302345	rs_786205598	14 SubmittersRCV000502114 RCV000515202 RCV000171427 RCV000509312 RCV000700520 RCV001265420 RCV001266353 RCV001640264 RCV003488419
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	SNV Germline	Chr9:127661140	Pathogenic	Developmental and epileptic encephalopathy, 4 Condition: not provided 7 conditions Developmental and epileptic encephalopathy Infantile epilepsy syndrome Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA203284	rs_794727792	10 SubmittersRCV000179420 RCV000189595 RCV000626842 RCV001380262 RCV001265297 RCV001260782
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	SNV Germline	Chr9:127666206	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy, 4 Cerebellar vermis hypoplasia Developmental and epileptic encephalopathy Congenital cerebellar hypoplasia Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA303075	rs_794727970	9 SubmittersRCV000180590 RCV000504117 RCV000779652 RCV000796167 RCV001258012 RCV001265518
NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp)	SNV Germline	Chr9:127612439	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA318901	rs_796053378	2 SubmittersRCV000189628 RCV001218642
NM_001032221.6(STXBP1):c.37+3A>T	SNV Germline	Chr9:127612443	Likely pathogenic	Condition: not provided Infantile epilepsy syndrome	Criteria Provided Single Submitter	CA318903	rs_796053379	2 SubmittersRCV000189629 RCV001265153
NM_001032221.6(STXBP1):c.87+1G>A	SNV Germline	Chr9:127651653	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA318843	rs_796053350	3 SubmittersRCV000189593 RCV002517020
NM_001032221.6(STXBP1):c.88-2A>C	SNV Germline	Chr9:127653713	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA318844	rs_796053351	1 SubmittersRCV000189594
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)	SNV Germline	Chr9:127653794	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA318913	rs_1554776228	1 SubmittersRCV001996146
NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys)	SNV Germline	Chr9:127658429	Likely pathogenic	Infantile epilepsy syndrome Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA318845	rs_796053352	2 SubmittersRCV001265425 RCV005089960
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)	SNV Germline	Chr9:127660033	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases STXBP1-related disorder	Criteria Provided Conflicting Classifications	CA318830	rs_34830702	6 SubmittersRCV000189584 RCV000698059 RCV001088539 RCV002317654 RCV004553036
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	SNV Germline	Chr9:127661192	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Intellectual disability Intellectual disability Seizure See cases	Criteria Provided Multiple Submitters No Conflicts	CA318847	rs_796053353	11 SubmittersRCV000189597 RCV000416131 RCV001061798 RCV001260844 RCV000851509 RCV002252038
NM_001032221.6(STXBP1):c.430-1G>T	SNV Germline	Chr9:127663204	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA318849	rs_796053354	1 SubmittersRCV000189598
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr9:127663343	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Infantile epilepsy syndrome Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA318850	rs_796053355	7 SubmittersRCV000189599 RCV000415749 RCV000548823 RCV001265515 RCV002273977
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	SNV Germline	Chr9:127663344	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Photosensitive tonic-clonic seizure Neurodegeneration Autism Intellectual disability, severe Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318852	rs_796053356	11 SubmittersRCV000189600 RCV000796165 RCV001003592 RCV002272167 RCV002345682
NM_001032221.6(STXBP1):c.578+1G>T	SNV Germline	Chr9:127663354	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA318854	rs_796053357	2 SubmittersRCV000189601
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)	SNV Germline	Chr9:127666205	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases Developmental and epileptic encephalopathy, 4	Criteria Provided Conflicting Classifications	CA318915	rs_796053359	4 SubmittersRCV000549629 RCV002372156 RCV003150811
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	SNV Germline	Chr9:127666205	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Infantile epilepsy syndrome STXBP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA318859	rs_796053359	11 SubmittersRCV000189604 RCV000415997 RCV000819097 RCV001265520 RCV003335187
NM_001032221.6(STXBP1):c.795-1G>A	SNV Germline	Chr9:127668079	Pathogenic	Developmental and epileptic encephalopathy, 4 Neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA318861	rs_1554777708	2 SubmittersRCV002272880 RCV003389080
NM_001032221.6(STXBP1):c.815G>A (p.Gly272Glu)	SNV Germline	Chr9:127668100	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA318917	rs_1554777718	2 SubmittersRCV002031219 RCV005505399
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)	SNV Germline	Chr9:127668160	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Inborn genetic diseases Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA318862	rs_796053361	12 SubmittersRCV000189606 RCV000416099 RCV000636416 RCV000623542 RCV001265522
NM_001032221.6(STXBP1):c.904G>T (p.Glu302Ter)	SNV Germline	Chr9:127669899	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA318864	rs_796053362	1 SubmittersRCV000189607
NM_001032221.6(STXBP1):c.1030-1G>T	SNV Germline	Chr9:127673180	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA318868	rs_796053364	1 SubmittersRCV000189609
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)	SNV Germline	Chr9:127673212	Pathogenic/Likely pathogenic	Condition: not provided Infantile epilepsy syndrome Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA318869	rs_796053365	3 SubmittersRCV000189610 RCV001265298 RCV002463658
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	SNV Germline	Chr9:127673250	Pathogenic	Condition: not provided Epileptic encephalopathy Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4 Intellectual disability Infantile epilepsy syndrome Cerebellar ataxia Moderate global developmental delay Tremor	Criteria Provided Multiple Submitters No Conflicts	CA318871	rs_796053366	11 SubmittersRCV000189611 RCV000416987 RCV000477371 RCV001336021 RCV001260836 RCV001265514 RCV001807119
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr9:127675909	Pathogenic	Condition: not provided Epileptic encephalopathy Developmental and epileptic encephalopathy Infantile epilepsy syndrome Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA318875	rs_796053367	11 SubmittersRCV000189614 RCV000417024 RCV000636419 RCV001265293 RCV001332690 RCV004020295
NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met)	SNV Germline	Chr9:127676650	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA318881	rs_748965227	2 SubmittersRCV000189617 RCV001088784
NM_001032221.6(STXBP1):c.1359+1G>A	SNV Germline	Chr9:127676754	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA318883	rs_796053370	5 SubmittersRCV000189618 RCV001204641 RCV001781559
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)	SNV Germline	Chr9:127678510	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Intellectual disability Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA318877	rs_796053368	8 SubmittersRCV000189615 RCV000415832 RCV000471170 RCV001260800 RCV002514068
NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His)	SNV Germline	Chr9:127680209	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA318886	rs_796053372	2 SubmittersRCV000189620 RCV001857659
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser)	SNV Germline	Chr9:127682509	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA318890	rs_796053373	2 SubmittersRCV000189622 RCV000789013
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	SNV Germline	Chr9:127682509	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Infantile epilepsy syndrome See cases Developmental and epileptic encephalopathy Developmental disorder Seizure	Criteria Provided Multiple Submitters No Conflicts	CA318892	rs_796053373	14 SubmittersRCV000189623 RCV000415936 RCV001265516 RCV001420235 RCV001071757 RCV003126574 RCV005624341
NM_001032221.6(STXBP1):c.1652G>C (p.Arg551Pro)	SNV Germline	Chr9:127682510	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA318894	rs_796053374	1 SubmittersRCV000189624
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)	SNV Germline	Chr9:127682530	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA318898	rs_796053376	2 SubmittersRCV000189626 RCV002514069
NM_001032221.6(STXBP1):c.1702+1G>A	SNV Germline	Chr9:127682561	Pathogenic	Condition: not provided STXBP1-associated neurodevelopmental disorder Developmental and epileptic encephalopathy Infantile epilepsy syndrome Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA318900	rs_796053377	6 SubmittersRCV000189627 RCV000578282 RCV000796895 RCV001265152 RCV001253119
NM_001032221.6(STXBP1):c.875G>T (p.Arg292Leu)	SNV Germline	Chr9:127668160	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA204681	rs_796053361	1 SubmittersRCV000190701
NM_001032221.6(STXBP1):c.1029+1G>C	SNV Germline	Chr9:127672117	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA206776	rs_727504173	1 SubmittersRCV000193347
NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter)	SNV Germline	Chr9:127668083	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA10582613	rs_751170778	1 SubmittersRCV000232712
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)	SNV Germline	Chr9:127678475	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5248542	rs_777499631	5 SubmittersRCV000251078 RCV001083430 RCV002317783 RCV000725948
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)	SNV Germline	Chr9:127676671	Pathogenic	Condition: not provided Infantile epilepsy syndrome Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA10588466	rs_886039435	4 SubmittersRCV000254966 RCV001265291 RCV001240474
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)	SNV Germline	Chr9:127653751	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Condition: not provided Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603014	rs_886041668	3 SubmittersRCV000792098 RCV000334893 RCV001265295
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	SNV Germline	Chr9:127675910	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Inborn genetic diseases Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603018	rs_886041246	18 SubmittersRCV000369586 RCV000416146 RCV000458588 RCV000622955 RCV001265512
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg)	SNV Germline	Chr9:127673211	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA10603076	rs_886041337	2 SubmittersRCV000331872 RCV004527371
NM_001032221.6(STXBP1):c.902+1G>C	SNV Germline	Chr9:127668188	Pathogenic	Condition: not provided Infantile epilepsy syndrome	Criteria Provided Single Submitter	CA10603142	rs_886041978	2 SubmittersRCV000321668 RCV001265146
NM_001032221.6(STXBP1):c.1335C>T (p.His445=)	SNV Germline	Chr9:127676729	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA5248515	rs_372348815	2 SubmittersRCV000329442 RCV001423321
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)	SNV Germline	Chr9:127676714	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5248513	rs_370249358	7 SubmittersRCV000516890 RCV000726837 RCV001080534 RCV002317864
NM_001032221.6(STXBP1):c.1012C>T (p.Gln338Ter)	SNV Germline	Chr9:127672099	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042633	rs_1057517856	1 SubmittersRCV000414453
NM_001032221.6(STXBP1):c.1549G>T (p.Ala517Ser)	SNV Germline	Chr9:127682407	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042662	rs_1057518123	1 SubmittersRCV000412866
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu)	SNV Germline	Chr9:127682510	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA16042750	rs_796053374	2 SubmittersRCV000414301 RCV002523940
NM_001032221.6(STXBP1):c.877C>T (p.His293Tyr)	SNV Germline	Chr9:127668162	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042764	rs_1057517880	1 SubmittersRCV000414192
NM_001032221.6(STXBP1):c.1082C>T (p.Thr361Ile)	SNV Germline	Chr9:127673233	Likely pathogenic	Epileptic encephalopathy	No Assertion Criteria Provided	CA16043619	rs_1057518985	1 SubmittersRCV000415156
NM_001032221.6(STXBP1):c.1249+1G>C	SNV Germline	Chr9:127675943	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16043836	rs_1057519189	1 SubmittersRCV000416098
NM_001032221.6(STXBP1):c.902+1G>A	SNV Germline	Chr9:127668188	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA16044009	rs_886041978	2 SubmittersRCV000415793
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)	SNV Germline	Chr9:127672093	Pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16044277	rs_1057519501	3 SubmittersRCV000416539 RCV001861468 RCV002418241
NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter)	SNV Germline	Chr9:127678479	Pathogenic	Epileptic encephalopathy	Criteria Provided Single Submitter	CA16044322	rs_1057519539	1 SubmittersRCV000416969
NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter)	SNV Germline	Chr9:127682423	Pathogenic	Epileptic encephalopathy	Criteria Provided Single Submitter	CA16044323	rs_1057519537	1 SubmittersRCV000416996
NM_001032221.6(STXBP1):c.579-2A>G	SNV Germline	Chr9:127665245	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16605319	rs_112111568	3 SubmittersRCV000423631
NM_001032221.6(STXBP1):c.794+5G>A	SNV Germline	Chr9:127666301	Pathogenic	Condition: not provided Infantile epilepsy syndrome	Criteria Provided Single Submitter	CA16605321	rs_1057520631	2 SubmittersRCV000444271 RCV001265150
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp)	SNV Germline	Chr9:127682500	Likely pathogenic	Condition: not provided Infantile epilepsy syndrome	Criteria Provided Single Submitter	CA16605477	rs_1057523381	2 SubmittersRCV000430934 RCV001265344
NM_001032221.6(STXBP1):c.767T>C (p.Leu256Pro)	SNV Germline	Chr9:127666269	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16605551	rs_1057524834	1 SubmittersRCV000444312
NM_001032221.6(STXBP1):c.1360-2A>G	SNV Germline	Chr9:127678429	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16605571	rs_1057522982	1 SubmittersRCV000438565
NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter)	SNV Germline	Chr9:127682547	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16605573	rs_1057520544	1 SubmittersRCV000427600
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)	SNV Germline	Chr9:127666245	Conflicting classifications of pathogenicity	Condition: not provided Infantile epilepsy syndrome Developmental and epileptic encephalopathy, 4	Criteria Provided Conflicting Classifications	CA16606218	rs_1057524795	3 SubmittersRCV000436434 RCV001265299 RCV002283481
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro)	SNV Germline	Chr9:127661161	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA16612587	rs_1060501724	1 SubmittersRCV000456399
NM_001032221.6(STXBP1):c.1434G>A (p.Trp478Ter)	SNV Germline	Chr9:127678505	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA16612591	rs_1060501722	1 SubmittersRCV000464099
NM_001032221.6(STXBP1):c.84G>A (p.Trp28Ter)	SNV Germline	Chr9:127651649	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16618736	rs_1064793984	1 SubmittersRCV000481498
NM_001032221.6(STXBP1):c.420T>A (p.Tyr140Ter)	SNV Germline	Chr9:127661196	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16618738	rs_1064796989	1 SubmittersRCV000481583
NM_001032221.6(STXBP1):c.748C>T (p.Gln250Ter)	SNV Germline	Chr9:127666250	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16618740	rs_1064796720	1 SubmittersRCV000483425
NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)	SNV Germline	Chr9:127668174	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA16618741	rs_1064794322	2 SubmittersRCV000485374 RCV001851183
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)	SNV Germline	Chr9:127675910	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA16618744	rs_886041246	2 SubmittersRCV000478807 RCV001089744
NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr)	SNV Germline	Chr9:127676682	Conflicting classifications of pathogenicity	Condition: not provided Infantile epilepsy syndrome Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA5248508	rs_148131665	3 SubmittersRCV000478988 RCV001265511 RCV001349160
NM_001032221.6(STXBP1):c.107T>G (p.Leu36Ter)	SNV Germline	Chr9:127653734	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375176209	rs_1085307900	1 SubmittersRCV000489814
NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn)	SNV Germline	Chr9:127666197	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933817	rs_1085308022	1 SubmittersRCV000489440
NM_001032221.6(STXBP1):c.963+1G>T	SNV Germline	Chr9:127669959	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374935037	rs_1085307465	1 SubmittersRCV000490148
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser)	SNV Germline	Chr9:127672090	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374935919	rs_1085307916	3 SubmittersRCV000489992 RCV003753124 RCV002466257
NM_001032221.6(STXBP1):c.872T>C (p.Leu291Pro)	SNV Germline	Chr9:127668157	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374934675	rs_1131691928	1 SubmittersRCV000494104
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)	SNV Germline	Chr9:127682489	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA374939370	rs_121918317	5 SubmittersRCV000494083 RCV001290393 RCV000791831
NM_003165.6(STXBP1):c.1708A>G (p.Thr570Ala)	SNV Germline	Chr9:127684373	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374940785	rs_1131691742	1 SubmittersRCV000493328
NM_001032221.6(STXBP1):c.1706C>T (p.Ser569Phe)	SNV Germline	Chr9:127690778	Likely pathogenic	Non-syndromic intellectual disability	Criteria Provided Single Submitter	CA374943186	rs_1135401819	1 SubmittersRCV000496201
NM_001032221.6(STXBP1):c.87+2T>C	SNV Germline	Chr9:127651654	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375176160	rs_1554775960	1 SubmittersRCV000503704
NM_001032221.6(STXBP1):c.664-1G>A	SNV Germline	Chr9:127666165	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933657	rs_1554777464	1 SubmittersRCV000513540
NM_001032221.6(STXBP1):c.707G>A (p.Gly236Asp)	SNV Germline	Chr9:127666209	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933892	rs_1554777474	1 SubmittersRCV000519228
NM_001032221.6(STXBP1):c.1461G>C (p.Glu487Asp)	SNV Germline	Chr9:127678532	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374938004	rs_1554778676	1 SubmittersRCV000523962
NM_001032221.6(STXBP1):c.326-1G>T	SNV Germline	Chr9:127661101	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374932136	rs_1554776948	3 SubmittersRCV000543201 RCV001030035
NM_001032221.6(STXBP1):c.1111-2A>G	SNV Germline	Chr9:127675802	Pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374936675	rs_1554778417	2 SubmittersRCV000527133 RCV000721132
NM_001032221.6(STXBP1):c.1360-2A>T	SNV Germline	Chr9:127678429	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374937651	rs_1057522982	1 SubmittersRCV000553132
NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn)	SNV Germline	Chr9:127684454	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA5248634	rs_749807465	2 SubmittersRCV000531208 RCV001707725
NM_001032221.6(STXBP1):c.88-2A>G	SNV Germline	Chr9:127653713	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375176162	rs_796053351	1 SubmittersRCV000579020
NM_001032221.6(STXBP1):c.170-2A>G	SNV Germline	Chr9:127658373	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA375176362	rs_1554776674	5 SubmittersRCV000578961 RCV000680109 RCV001265147
NM_001032221.6(STXBP1):c.1075C>T (p.Gln359Ter)	SNV Germline	Chr9:127673226	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374936198	rs_1554778215	1 SubmittersRCV000579060
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)	SNV Germline	Chr9:127666293	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 4 Intellectual disability	Criteria Provided Conflicting Classifications	CA374934263	rs_1316686443	2 SubmittersRCV000585735 RCV001260852
NM_001032221.6(STXBP1):c.794+1G>A	SNV Germline	Chr9:127666297	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374934273	rs_1554777496	3 SubmittersRCV000596140 RCV001214993 RCV002470917
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)	SNV Germline	Chr9:127653771	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA467433839	rs_1462537561	4 SubmittersRCV000616990 RCV001468836 RCV004584773
NM_001032221.6(STXBP1):c.419A>G (p.Tyr140Cys)	SNV Germline	Chr9:127661195	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA200262961	rs_774228113	2 SubmittersRCV000610309 RCV002531667
NM_001032221.6(STXBP1):c.1110G>A (p.Gln370=)	SNV Germline	Chr9:127673261	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA467230265	rs_1554778227	1 SubmittersRCV000623191
NM_001032221.6(STXBP1):c.1359+2T>C	SNV Germline	Chr9:127676755	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA374937568	rs_1554778509	1 SubmittersRCV000624411
NM_001032221.6(STXBP1):c.1593C>A (p.Tyr531Ter)	SNV Germline	Chr9:127682451	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA374939205	rs_767199598	1 SubmittersRCV000624344
NM_001032221.6(STXBP1):c.733C>G (p.His245Asp)	SNV Unknown	Chr9:127666235	Pathogenic	Severe global developmental delay Microcephaly	Criteria Provided Single Submitter	CA374934012	rs_1554777480	1 SubmittersRCV000626840
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)	SNV Germline	Chr9:127666187	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy Infantile epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374933766	rs_1554777470	3 SubmittersRCV000657782 RCV001202015 RCV001265417
NM_001032221.6(STXBP1):c.902+4A>G	SNV Germline	Chr9:127668191	Likely pathogenic	Infantile epilepsy syndrome Condition: not provided	Criteria Provided Single Submitter	CA658822747	rs_1554777733	2 SubmittersRCV001265149 RCV000658438
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter)	SNV Germline	Chr9:127651644	Pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA375176134	rs_1564346538	2 SubmittersRCV000680112 RCV003753152
NM_001032221.6(STXBP1):c.578+1G>A	SNV Germline	Chr9:127663354	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374933315	rs_796053357	3 SubmittersRCV000680111
NM_001032221.6(STXBP1):c.817G>T (p.Glu273Ter)	SNV Germline	Chr9:127668102	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374934555	rs_1564352002	1 SubmittersRCV000694876
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)	SNV Germline	Chr9:127682510	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA374939465	rs_796053374	5 SubmittersRCV000686294 RCV001270414 RCV002544743
NM_001032221.6(STXBP1):c.607C>T (p.Gln203Ter)	SNV Germline	Chr9:127665275	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374933449	rs_1564351103	1 SubmittersRCV000687594
NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter)	SNV Germline	Chr9:127682415	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA374939044	rs_1564357089	1 SubmittersRCV000721133
NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn)	SNV Germline	Chr9:127678525	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374937978	rs_1564355642	1 SubmittersRCV000731273
NM_001032221.6(STXBP1):c.586A>T (p.Lys196Ter)	SNV Germline	Chr9:127665254	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933407	rs_1564351084	1 SubmittersRCV000760663
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter)	SNV Germline	Chr9:127678498	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374937891	rs_1564355614	2 SubmittersRCV000760854 RCV001249693
NM_001032221.6(STXBP1):c.578G>T (p.Gly193Val)	SNV Germline	Chr9:127663353	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374933313	rs_1588313568	1 SubmittersRCV000804423
NM_001032221.6(STXBP1):c.1141G>C (p.Glu381Gln)	SNV Germline	Chr9:127675834	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA5248472	rs_762767233	2 SubmittersRCV000794359 RCV004777868
NM_001032221.6(STXBP1):c.664-1G>C	SNV Germline	Chr9:127666165	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374933658	rs_1554777464	1 SubmittersRCV000818065
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)	SNV Germline	Chr9:127658441	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375176513	rs_1588302912	2 SubmittersRCV000988248
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)	SNV Unknown	Chr9:127658446	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375176522	rs_1461664423	1 SubmittersRCV000988249
NM_001032221.6(STXBP1):c.430-1G>A	SNV Unknown	Chr9:127663204	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374932871	rs_796053354	1 SubmittersRCV000988252
NM_001032221.6(STXBP1):c.579-1G>A	SNV Germline	Chr9:127665246	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374933386	rs_1588317190	2 SubmittersRCV000988253
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)	SNV Germline	Chr9:127668147	Likely pathogenic	Developmental and epileptic encephalopathy, 4 Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA374934651	rs_1588324025	2 SubmittersRCV000988254 RCV001255351
NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu)	SNV Germline	Chr9:127676695	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA5248510	rs_773261815	3 SubmittersRCV000999216 RCV001308231
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)	SNV Germline	Chr9:127660091	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374931802	rs_1588306948	1 SubmittersRCV000995655
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter)	SNV Germline	Chr9:127676655	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374937275	rs_1588341629	1 SubmittersRCV000995656
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter)	SNV Germline	Chr9:127678498	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA374937889	rs_1564355614	1 SubmittersRCV001003469
NM_001032221.6(STXBP1):c.1216C>G (p.Arg406Gly)	SNV Unknown	Chr9:127675909	Likely pathogenic	Epileptic encephalopathy	No Assertion Criteria Provided	CA374937075	rs_796053367	1 SubmittersRCV001003593
NM_001032221.6(STXBP1):c.1249+1G>A	SNV Germline	Chr9:127675943	Pathogenic	Epileptic encephalopathy Condition: not provided	Criteria Provided Single Submitter	CA374937188	rs_1057519189	2 SubmittersRCV001003594 RCV005603675
NM_001032221.6(STXBP1):c.1359+1G>T	SNV Unknown	Chr9:127676754	Pathogenic	Autism Global developmental delay	No Assertion Criteria Provided	CA374937565	rs_796053370	1 SubmittersRCV001003595
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)	SNV Germline	Chr9:127653749	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375176246	rs_2132444527	1 SubmittersRCV001004708
NM_001032221.6(STXBP1):c.1461+1G>T	SNV Germline	Chr9:127678533	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 4 Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA374938009	rs_2538589846	4 SubmittersRCV001004748 RCV001541939 RCV001860567
NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp)	SNV Germline	Chr9:127678446	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy not specified STXBP1-related disorder	Criteria Provided Conflicting Classifications	CA5248538	rs_750968891	3 SubmittersRCV001034310 RCV001819737 RCV004740545
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu)	SNV Germline	Chr9:127653725	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA375176186	rs_1840653547	1 SubmittersRCV001051053
NM_001032221.6(STXBP1):c.145G>C (p.Asp49His)	SNV Germline	Chr9:127653772	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases Multiple congenital anomalies/dysmorphic syndrome	Criteria Provided Conflicting Classifications	CA375176300	rs_1244732832	3 SubmittersRCV001038618 RCV003259039 RCV005626304
NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter)	SNV Germline	Chr9:127653784	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA375176328	rs_749965674	1 SubmittersRCV001038009
NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp)	SNV Germline	Chr9:127663349	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA374933293	rs_1841142873	2 SubmittersRCV001061997 RCV004789394
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp)	SNV Germline	Chr9:127673190	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374936109	rs_1841611651	1 SubmittersRCV001058311
NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter)	SNV Germline	Chr9:127676652	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374937263	rs_1841766225	1 SubmittersRCV001052731
NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser)	SNV Germline	Chr9:127684414	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5248627	rs_757607352	3 SubmittersRCV001050553 RCV003160396 RCV003480926
NM_001032221.6(STXBP1):c.247-1G>A	SNV Germline	Chr9:127660029	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374931666	rs_1840967817	1 SubmittersRCV001050020
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)	SNV Germline	Chr9:127663205	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA374932874	rs_1211863124	2 SubmittersRCV001089743 RCV001171879
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr)	SNV Germline	Chr9:127666286	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374934247	rs_1841290957	1 SubmittersRCV001089745
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter)	SNV Germline	Chr9:127682446	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374939172	rs_756998073	1 SubmittersRCV001089742
NM_001032221.6(STXBP1):c.170-1G>C	SNV Germline	Chr9:127658374	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375176364	rs_112002192	2 SubmittersRCV001090604 RCV002281583
NM_001032221.6(STXBP1):c.1029+1G>A	SNV Germline	Chr9:127672117	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA374936018	rs_727504173	3 SubmittersRCV001090609 RCV001253063 RCV002379641
NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter)	SNV Germline	Chr9:127673225	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374936194	rs_1841613716	1 SubmittersRCV001090610
NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys)	SNV Germline	Chr9:127673256	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374936257	rs_1841616772	1 SubmittersRCV001091116
NM_001032221.6(STXBP1):c.1461+5G>A	SNV Germline	Chr9:127678537	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA1139661200	rs_1841870815	1 SubmittersRCV001091119
NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu)	SNV Germline	Chr9:127682486	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374939361	rs_1842044352	1 SubmittersRCV001091121
NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys)	SNV Germline	Chr9:127658419	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA5248251	rs_754668616	2 SubmittersRCV001222853 RCV001566722
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His)	SNV Germline	Chr9:127660051	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA374931714	rs_1840970680	3 SubmittersRCV001214862 RCV001726451 RCV002451469
NM_001032221.6(STXBP1):c.429G>A (p.Gln143=)	SNV Germline	Chr9:127661205	Conflicting classifications of pathogenicity	Inborn genetic diseases Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA467221667	rs_1841030849	2 SubmittersRCV001267328 RCV001224719
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg)	SNV Germline	Chr9:127682488	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374939366	rs_1842044505	1 SubmittersRCV001224723
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)	SNV Germline	Chr9:127682514	Pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374939506	rs_942940725	2 SubmittersRCV001215125 RCV001799745
NM_001032221.6(STXBP1):c.416C>A (p.Pro139Gln)	SNV Germline	Chr9:127661192	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374932523	rs_796053353	1 SubmittersRCV001201587
NM_001032221.6(STXBP1):c.636T>A (p.Tyr212Ter)	SNV Germline	Chr9:127665304	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374933518	rs_1841238690	1 SubmittersRCV001232299
NM_001032221.6(STXBP1):c.578G>C (p.Gly193Ala)	SNV Germline	Chr9:127663353	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374933311	rs_1588313568	1 SubmittersRCV001241713
NM_001032221.6(STXBP1):c.636T>G (p.Tyr212Ter)	SNV Germline	Chr9:127665304	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374933519	rs_1841238690	1 SubmittersRCV001245988
NM_001032221.6(STXBP1):c.325+2T>A	SNV Germline	Chr9:127660110	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374931849	rs_1840976417	1 SubmittersRCV001227609
NM_001032221.6(STXBP1):c.1360-2A>C	SNV Germline	Chr9:127678429	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374937650	rs_1057522982	1 SubmittersRCV001246624
NM_001032221.6(STXBP1):c.663+1G>A	SNV Germline	Chr9:127665332	Pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374933584	rs_1841240415	3 SubmittersRCV001249710 RCV001879760 RCV004774358
NM_001032221.6(STXBP1):c.246+1G>C	SNV Germline	Chr9:127658452	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375176536	rs_1840868164	1 SubmittersRCV001250744
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)	SNV Germline/somatic	Chr9:127676671	Likely pathogenic	Intellectual disability Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374937335	rs_886039435	1 SubmittersRCV001255367 RCV001253476
NM_001032221.6(STXBP1):c.1360-7C>T	SNV Germline	Chr9:127678424	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA200265336	rs_895077278	2 SubmittersRCV001253041 RCV003588726
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly)	SNV Germline	Chr9:127663329	Likely pathogenic	Intellectual disability	Criteria Provided Single Submitter	CA374933210	rs_1841140785	1 SubmittersRCV001260802
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)	SNV Germline	Chr9:127682488	Pathogenic	Developmental and epileptic encephalopathy, 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374939367	rs_1842044505	2 SubmittersRCV001262157 RCV001552557
NM_001032221.6(STXBP1):c.37+3A>C	SNV Germline	Chr9:127612443	Likely pathogenic	Infantile epilepsy syndrome	No Assertion Criteria Provided	CA1139661170	rs_796053379	1 SubmittersRCV001265136
NM_001032221.6(STXBP1):c.663+1G>C	SNV Germline	Chr9:127665332	Pathogenic	Infantile epilepsy syndrome Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374933585	rs_1841240415	2 SubmittersRCV001265151 RCV001775165
NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr)	SNV Germline	Chr9:127653752	Likely pathogenic	Infantile epilepsy syndrome	No Assertion Criteria Provided	CA375176251	rs_1840655911	1 SubmittersRCV001265296
NM_001032221.6(STXBP1):c.755T>C (p.Met252Thr)	SNV Germline	Chr9:127666257	Pathogenic	Infantile epilepsy syndrome Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374934121	rs_1841289209	2 SubmittersRCV001265517 RCV003588732
NM_001032221.6(STXBP1):c.875G>C (p.Arg292Pro)	SNV Germline	Chr9:127668160	Pathogenic	Infantile epilepsy syndrome	No Assertion Criteria Provided	CA374934679	rs_796053361	1 SubmittersRCV001265423
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)	SNV Germline	Chr9:127678509	Likely pathogenic	Infantile epilepsy syndrome Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374937924	rs_1841869298	2 SubmittersRCV001265519 RCV001377782
NM_001032221.6(STXBP1):c.1654T>C (p.Cys552Arg)	SNV Germline	Chr9:127682512	Pathogenic	Infantile epilepsy syndrome Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374939488	rs_1842046459	2 SubmittersRCV001265419 RCV003588731
NM_001032221.6(STXBP1):c.136A>G (p.Lys46Glu)	SNV Germline	Chr9:127653763	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA375176277	rs_1840656743	1 SubmittersRCV001266945
NM_001032221.6(STXBP1):c.792C>A (p.Tyr264Ter)	SNV Germline	Chr9:127666294	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA374934265	rs_1841291684	1 SubmittersRCV001266619
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	SNV Germline	Chr9:127663335	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Inborn genetic diseases Condition: not provided Autism spectrum disorder Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374933242	rs_1841141204	7 SubmittersRCV001863164 RCV002350505 RCV003329397 RCV001291380 RCV002051934
NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter)	SNV Germline	Chr9:127682428	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA374939102	rs_1842039791	1 SubmittersRCV001293010
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met)	SNV Germline	Chr9:127653715	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA375176169	rs_1840653229	1 SubmittersRCV001306800
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly)	SNV Germline	Chr9:127673211	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374936160	rs_886041337	1 SubmittersRCV001325664
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)	SNV Germline	Chr9:127660081	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases Spastic ataxia	Criteria Provided Conflicting Classifications	CA5248285	rs_764758291	3 SubmittersRCV001871792 RCV002438759 RCV001647179
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)	SNV Germline	Chr9:127663209	Pathogenic/Likely pathogenic	Spastic ataxia Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374932881	rs_2131462357	3 SubmittersRCV001647178 RCV001859245 RCV002286839
NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg)	SNV Germline	Chr9:127675942	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374937186	rs_2131510237	1 SubmittersRCV001726526
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val)	SNV Germline	Chr9:127666287	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374934250	rs_2131473052	1 SubmittersRCV001376171
NM_001032221.6(STXBP1):c.1110+3A>C	SNV Germline	Chr9:127673264	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA2499219626	rs_2131501481	1 SubmittersRCV001420160
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro)	SNV Germline	Chr9:127668127	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374934606	rs_2131481488	4 SubmittersRCV001531112 RCV004785266
NM_001032221.6(STXBP1):c.1359+5G>A	SNV Germline	Chr9:127676758	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA2499219628	rs_2131513670	2 SubmittersRCV001533418 RCV001873783
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)	SNV Germline	Chr9:127676676	Pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374937350	rs_2131513223	3 SubmittersRCV001542586 RCV003753180 RCV004785271
NM_001032221.6(STXBP1):c.721T>A (p.Ser241Thr)	SNV Germline	Chr9:127666223	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933971	rs_2131472700	1 SubmittersRCV001543450
NM_001032221.6(STXBP1):c.722C>A (p.Ser241Tyr)	SNV Germline	Chr9:127666224	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933977	rs_2131472708	1 SubmittersRCV001543451
NM_001032221.6(STXBP1):c.-3G>T	SNV Germline	Chr9:127612401	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5248186	rs_754349925	2 SubmittersRCV001555293 RCV002370197
NM_001032221.6(STXBP1):c.616C>T (p.Gln206Ter)	SNV Germline	Chr9:127665284	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933471	rs_2131469253	1 SubmittersRCV001567664
NM_001032221.6(STXBP1):c.1726C>T (p.Gln576Ter)	SNV Germline	Chr9:127690798	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374943334	rs_2131561363	1 SubmittersRCV001566676
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)	SNV Germline	Chr9:127673235	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases Developmental and epileptic encephalopathy, 4	Criteria Provided Conflicting Classifications	CA200264361	rs_1046891783	4 SubmittersRCV001571614 RCV001866033 RCV002424993 RCV003136110
NM_001032221.6(STXBP1):c.164T>C (p.Ile55Thr)	SNV Germline	Chr9:127653791	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375176344	rs_2132444862	1 SubmittersRCV001586328
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)	SNV Germline	Chr9:127682513	Pathogenic/Likely pathogenic	Condition: not provided Seizure Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374939495	rs_2131536069	3 SubmittersRCV001586570 RCV004546667 RCV003152767
NM_001032221.6(STXBP1):c.903G>A (p.Gln301=)	SNV Germline	Chr9:127669898	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA467228107	rs_1364462270	2 SubmittersRCV001592054 RCV003753185
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro)	SNV Germline	Chr9:127668145	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374934649	rs_2131481623	1 SubmittersRCV001724738
NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg)	SNV Germline	Chr9:127653749	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA375176248	rs_2132444527	1 SubmittersRCV001726699
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg)	SNV Germline	Chr9:127678528	Likely pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA374937990	rs_2131522449	1 SubmittersRCV001726702
NM_001032221.6(STXBP1):c.733C>A (p.His245Asn)	SNV Germline	Chr9:127666235	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA374934011	rs_1554777480	1 SubmittersRCV001726703
NM_001032221.6(STXBP1):c.963+3A>C	SNV Germline	Chr9:127669961	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2499219623	rs_2131489143	1 SubmittersRCV001727488
NM_001032221.6(STXBP1):c.37+1G>C	SNV Germline	Chr9:127612441	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375173606	rs_2132275717	1 SubmittersRCV001775315
NM_001032221.6(STXBP1):c.1709C>T (p.Thr570Ile)	SNV Germline	Chr9:127690781	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374943214	rs_2131561276	1 SubmittersRCV001786082
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro)	SNV Germline	Chr9:127673194	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374936122	rs_2131501072	1 SubmittersRCV001839311
NM_001032221.6(STXBP1):c.1359+3A>C	SNV Germline	Chr9:127676756	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA2573143961	rs_2131513660	1 SubmittersRCV001928226
NM_001032221.6(STXBP1):c.225T>G (p.Tyr75Ter)	SNV Germline	Chr9:127658430	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA375176489	rs_2132461012	1 SubmittersRCV001875757
NM_001032221.6(STXBP1):c.19A>G (p.Lys7Glu)	SNV Germline	Chr9:127612422	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Seizure	Criteria Provided Conflicting Classifications	CA375173564	rs_2132275587	2 SubmittersRCV001897986 RCV005624496
NM_001032221.6(STXBP1):c.37+1G>A	SNV Germline	Chr9:127612441	Pathogenic	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375173605	rs_2132275717	2 SubmittersRCV001953769 RCV003225210
NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys)	SNV Germline	Chr9:127658380	Pathogenic	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375176376	rs_2132460743	2 SubmittersRCV001953770 RCV003227051
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg)	SNV Germline	Chr9:127682485	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374939359	rs_2131535795	1 SubmittersRCV001973846
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln)	SNV Germline	Chr9:127660082	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5248286	rs_374269726	3 SubmittersRCV001903126 RCV004815739 RCV004970437
NM_001032221.6(STXBP1):c.325+4A>T	SNV Germline	Chr9:127660112	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA2573144043	rs_2131451091	1 SubmittersRCV001972177
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)	SNV Germline	Chr9:127661104	Likely pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374932148	rs_2131454649	2 SubmittersRCV002045587 RCV002466276
NM_001032221.6(STXBP1):c.1503T>A (p.Tyr501Ter)	SNV Germline	Chr9:127680198	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374938666	rs_1841946692	1 SubmittersRCV001911421
NM_001032221.6(STXBP1):c.663+5G>A	SNV Germline	Chr9:127665336	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA2573144056	rs_2131469592	1 SubmittersRCV001898761
NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met)	SNV Germline	Chr9:127663280	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA374933051	rs_1410933215	2 SubmittersRCV002031932 RCV002551221
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp)	SNV Germline	Chr9:127684474	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374941628	rs_2131543392	1 SubmittersRCV002008887
NM_001032221.6(STXBP1):c.797A>G (p.Tyr266Cys)	SNV Germline	Chr9:127668082	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA374934511	rs_2131481245	2 SubmittersRCV002040812 RCV005401911
NM_001032221.6(STXBP1):c.134G>T (p.Cys45Phe)	SNV Germline	Chr9:127653761	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA375176272	rs_1840656429	2 SubmittersRCV002151970 RCV004047024
NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln)	SNV Germline	Chr9:127678462	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA374937756	rs_1381421236	2 SubmittersRCV002154395 RCV003070676
NM_001032221.6(STXBP1):c.963+2T>C	SNV Germline	Chr9:127669960	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA374935040	rs_2539835265	1 SubmittersRCV002291806
NM_001032221.6(STXBP1):c.795-2A>C	SNV Germline	Chr9:127668078	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374934500	rs_2131481227	1 SubmittersRCV002246749
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter)	SNV Germline	Chr9:127673259	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374936267	rs_2131501460	2 SubmittersRCV002246750
NM_001032221.6(STXBP1):c.536T>A (p.Leu179His)	SNV Germline	Chr9:127663311	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374933116	rs_2131462929	1 SubmittersRCV002276211
NM_001032221.6(STXBP1):c.1462-2A>G	SNV Germline	Chr9:127680155	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374938430	rs_2131528253	1 SubmittersRCV002279134
NM_001032221.6(STXBP1):c.82T>G (p.Trp28Gly)	SNV Germline	Chr9:127651647	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375176143	rs_2539771553	1 SubmittersRCV002280066
NM_001032221.6(STXBP1):c.889G>T (p.Ala297Ser)	SNV Germline	Chr9:127668174	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374934711	rs_1064794322	1 SubmittersRCV002283283
NM_001032221.6(STXBP1):c.579-1G>C	SNV Germline	Chr9:127665246	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374933387	rs_1588317190	1 SubmittersRCV002287874
NM_001032221.6(STXBP1):c.1359+5G>C	SNV Germline	Chr9:127676758	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA2580079573	rs_2131513670	1 SubmittersRCV002289381
NM_001032221.6(STXBP1):c.1419C>A (p.Tyr473Ter)	SNV Germline	Chr9:127678490	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA374937858	rs_2538589269	1 SubmittersRCV002391753
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)	SNV Germline	Chr9:127676730	Pathogenic	Developmental and epileptic encephalopathy, 4	No Assertion Criteria Provided	CA374937514	rs_1219725395	1 SubmittersRCV002444403
NM_001032221.6(STXBP1):c.1110+2T>G	SNV Germline	Chr9:127673263	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA374936278	rs_2538559195	2 SubmittersRCV003138276
NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)	SNV Germline	Chr9:127666203	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374933858	rs_2539820308	1 SubmittersRCV002466374
NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)	SNV Germline	Chr9:127682515	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374939513	rs_1408532785	1 SubmittersRCV002466375
NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)	SNV Germline	Chr9:127665288	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374933481	rs_2539816328	1 SubmittersRCV002466376
NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)	SNV Germline	Chr9:127666250	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374934084	rs_1064796720	1 SubmittersRCV002466377
NM_001032221.6(STXBP1):c.1030-2A>G	SNV Germline	Chr9:127673179	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 4 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA374936065	rs_2538558406	2 SubmittersRCV002466378 RCV005098432
NM_001032221.6(STXBP1):c.1462-2A>C	SNV Germline	Chr9:127680155	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374938427	rs_2131528253	1 SubmittersRCV002471859
NM_001032221.6(STXBP1):c.1315A>T (p.Ile439Phe)	SNV Germline	Chr9:127676709	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374937465	rs_2538576553	1 SubmittersRCV002508901
NM_001032221.6(STXBP1):c.429+1G>A	SNV Germline	Chr9:127661206	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374932584	rs_2539802827	1 SubmittersRCV003037332
NM_001032221.6(STXBP1):c.1110+1G>A	SNV Germline	Chr9:127673262	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374936274	rs_2538559187	1 SubmittersRCV003058233
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)	SNV Germline	Chr9:127666232	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200263447	rs_375972545	3 SubmittersRCV003087040 RCV003138516 RCV004073312
NM_001032221.6(STXBP1):c.1702+2T>G	SNV Germline	Chr9:127682562	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374939837	rs_2538613606	1 SubmittersRCV002812034
NM_001032221.6(STXBP1):c.2T>G (p.Met1Arg)	SNV Germline	Chr9:127612405	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 4	Criteria Provided Multiple Submitters No Conflicts	CA375173530	rs_2539639191	2 SubmittersRCV002847027 RCV004794596
NM_001032221.6(STXBP1):c.1011C>G (p.Tyr337Ter)	SNV Germline	Chr9:127672098	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374935947	rs_1165371723	1 SubmittersRCV002862600
NM_001032221.6(STXBP1):c.1702+2T>C	SNV Germline	Chr9:127682562	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374939839	rs_2538613606	1 SubmittersRCV002894259
NM_001032221.6(STXBP1):c.1702G>C (p.Gly568Arg)	SNV Germline	Chr9:127682560	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374939824	rs_2538613542	1 SubmittersRCV002947244
NM_001032221.6(STXBP1):c.663+2T>C	SNV Germline	Chr9:127665333	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374933588	rs_2539816577	1 SubmittersRCV002938817
NM_001032221.6(STXBP1):c.1074C>G (p.Tyr358Ter)	SNV Germline	Chr9:127673225	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374936195	rs_1841613716	1 SubmittersRCV003010367
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)	SNV Germline	Chr9:127676710	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374937466	rs_2538576581	1 SubmittersRCV003034951
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)	SNV Germline	Chr9:127653734	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA375176207	rs_1085307900	1 SubmittersRCV003132817
NM_001032221.6(STXBP1):c.17T>C (p.Leu6Pro)	SNV Germline	Chr9:127612420	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA375173562	rs_2539639339	1 SubmittersRCV003229392
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)	SNV Germline	Chr9:127668115	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA374934579	rs_1478208887	2 SubmittersRCV003318149 RCV003588888
NM_001032221.6(STXBP1):c.325+1G>A	SNV Germline	Chr9:127660109	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374931845	rs_2539799194	1 SubmittersRCV003318519
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)	SNV Unknown	Chr9:127678525	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374937979	rs_1564355642	1 SubmittersRCV003322719
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)	SNV Germline	Chr9:127682519	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374939536	rs_2538613011	1 SubmittersRCV003335799
NM_001032221.6(STXBP1):c.429+2T>G	SNV Germline	Chr9:127661207	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374932590	rs_2539802835	1 SubmittersRCV003338164
NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=)	SNV Germline	Chr9:127678478	Conflicting classifications of pathogenicity	STXBP1-related disorder Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA5248543	rs_746719502	2 SubmittersRCV004552625 RCV003588908
NM_001032221.6(STXBP1):c.1216C>A (p.Arg406Ser)	SNV Germline	Chr9:127675909	Likely pathogenic	STXBP1-related disorder	Criteria Provided Single Submitter	CA374937074	rs_796053367	1 SubmittersRCV004552565
NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)	SNV Germline	Chr9:127678461	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374937753	rs_1239532436	1 SubmittersRCV003447436
NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)	SNV Germline	Chr9:127682520	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374939545	rs_142595450	1 SubmittersRCV003448798
NM_001032221.6(STXBP1):c.325+5G>A	SNV Unknown	Chr9:127660113	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA2695211183	rs_2539799215	1 SubmittersRCV003484525
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)	SNV Germline	Chr9:127666256	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374934114	rs_2539820701	1 SubmittersRCV003588952
NM_001032221.6(STXBP1):c.1109A>G (p.Gln370Arg)	SNV Germline	Chr9:127673260	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA374936269	rs_2538559163	2 SubmittersRCV003589904 RCV005602050
NM_001032221.6(STXBP1):c.903-2A>G	SNV Germline	Chr9:127669896	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374934794	rs_2539834585	1 SubmittersRCV003754277
NM_001032221.6(STXBP1):c.1250-2A>G	SNV Germline	Chr9:127676642	Likely pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374937230	rs_2538575897	1 SubmittersRCV003754355
NM_001032221.6(STXBP1):c.749A>G (p.Gln250Arg)	SNV Germline	Chr9:127666251	Pathogenic/Likely pathogenic	Inborn genetic diseases Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA374934089	rs_2539820655	2 SubmittersRCV005505719 RCV003754485
NM_001032221.6(STXBP1):c.1457T>C (p.Met486Thr)	SNV Germline	Chr9:127678528	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374937989	rs_2131522449	1 SubmittersRCV003754814
NM_001032221.6(STXBP1):c.1461+1G>A	SNV Germline	Chr9:127678533	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA374938006	rs_2538589846	1 SubmittersRCV003754802
NM_001032221.6(STXBP1):c.223T>C (p.Tyr75His)	SNV Germline	Chr9:127658428	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA375176484	rs_2539792278	1 SubmittersRCV003752638
NM_001032221.6(STXBP1):c.88-1G>A	SNV Germline	Chr9:127653714	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA375176164	rs_2539777929	1 SubmittersRCV003753671
NM_001032221.6(STXBP1):c.1547+2T>G	SNV Germline	Chr9:127680244	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter	CA374938899	rs_2538600335	1 SubmittersRCV003991212
NM_001032221.6(STXBP1):c.1018G>T (p.Glu340Ter)	SNV Germline	Chr9:127672105	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter		rs_2538552971	1 SubmittersRCV004566392
NM_001032221.6(STXBP1):c.92T>C (p.Leu31Pro)	SNV Germline	Chr9:127653719	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter		rs_2539777941	1 SubmittersRCV004595101
NM_001032221.6(STXBP1):c.122T>C (p.Leu41Pro)	SNV Germline	Chr9:127653749	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004697459
NM_001032221.6(STXBP1):c.1252A>T (p.Ile418Phe)	SNV Germline	Chr9:127676646	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004698141
NM_001032221.6(STXBP1):c.1022T>C (p.Leu341Pro)	SNV Germline	Chr9:127672109	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004727287
NM_001032221.6(STXBP1):c.863G>A (p.Trp288Ter)	SNV Germline	Chr9:127668148	Pathogenic	STXBP1-related disorder Condition: not provided	Criteria Provided Single Submitter			2 SubmittersRCV004727663 RCV004727662
NM_001032221.6(STXBP1):c.1557T>G (p.Tyr519Ter)	SNV Unknown	Chr9:127682415	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter			1 SubmittersRCV004759509
NM_001032221.6(STXBP1):c.103C>T (p.Gln35Ter)	SNV Germline	Chr9:127653730	Pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter			1 SubmittersRCV004771576
NM_001032221.6(STXBP1):c.326-1G>C	SNV Unknown	Chr9:127661101	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter			1 SubmittersRCV004813563
NM_001032221.6(STXBP1):c.269A>G (p.Asp90Gly)	SNV Germline	Chr9:127660052	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004823310
NM_001032221.6(STXBP1):c.310G>T (p.Val104Phe)	SNV Germline	Chr9:127660093	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005106801 RCV005365410
NM_001032221.6(STXBP1):c.87+5G>A	SNV Germline	Chr9:127651657	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter			1 SubmittersRCV005123799
NM_001032221.6(STXBP1):c.751G>C (p.Ala251Pro)	SNV Germline	Chr9:127666253	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter			1 SubmittersRCV005154485
NM_001032221.6(STXBP1):c.1593C>G (p.Tyr531Ter)	SNV Germline	Chr9:127682451	Pathogenic	Developmental and epileptic encephalopathy	Criteria Provided Single Submitter			1 SubmittersRCV005204050
NM_001032221.6(STXBP1):c.712G>C (p.Asp238His)	SNV Germline	Chr9:127666214	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005241785
NM_001032221.6(STXBP1):c.707G>T (p.Gly236Val)	SNV Germline	Chr9:127666209	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter			1 SubmittersRCV005410866
NM_001032221.6(STXBP1):c.260T>A (p.Leu87His)	SNV Germline	Chr9:127660043	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter			1 SubmittersRCV005410873
NM_001032221.6(STXBP1):c.1061G>T (p.Cys354Phe)	SNV Unknown	Chr9:127673212	Likely pathogenic	Developmental and epileptic encephalopathy, 4	Criteria Provided Single Submitter			1 SubmittersRCV005416155
NM_001032221.6(STXBP1):c.578+49A>G	SNV Germline	Chr9:127663402	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV005499415
NM_001032221.6(STXBP1):c.193A>T (p.Arg65Ter)	SNV Germline	Chr9:127658398	Likely pathogenic	Intellectual disability	Criteria Provided Single Submitter			1 SubmittersRCV005625885

NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)

SNV
Germline

Chr9:127682489

Pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA118448

rs_121918317

3 SubmittersRCV000007118 RCV003588557

NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr)

SNV
Germline

Chr9:127663314

Pathogenic

Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Single Submitter

CA118450

rs_121918318

2 SubmittersRCV000007119 RCV002311507

NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg)

SNV
Germline

Chr9:127676722

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA118452

rs_121918319

1 SubmittersRCV000007120

NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)

SNV
Germline

Chr9:127660034

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA118454

rs_121918320

1 SubmittersRCV000007121

NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr9:127675855

Pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA118456

rs_121918321

9 SubmittersRCV000007122 RCV000189612 RCV000539734 RCV001266381 RCV001265424

NM_001032221.6(STXBP1):c.169+1G>A

SNV
Germline

Chr9:127653797

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA118458

rs_587776641

3 SubmittersRCV000007123

NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)

SNV
Germline

Chr9:127672091

Conflicting classifications of pathogenicity

Condition: not provided
Cerebellar vermis hypoplasia
West syndrome
Developmental and epileptic encephalopathy, 4
Congenital cerebellar hypoplasia
STXBP1-related neurodevelopmental disorder
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA221967

rs_398123695

5 SubmittersRCV000080077 RCV000779645 RCV001258011 RCV001795096 RCV002514407

NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)

SNV
Germline/somatic

Chr9:127668132

Pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA151362

rs_587777310

6 SubmittersRCV000114939 RCV000525775 RCV000440506

NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)

SNV
Germline

Chr9:127682538

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA173634

rs_201809337

5 SubmittersRCV000128322 RCV000147702 RCV000863608 RCV002316426 RCV004597748

NM_001032221.6(STXBP1):c.1702+10C>T

SNV
Germline

Chr9:127682570

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA293799

rs_147607230

7 SubmittersRCV000128323 RCV000230027 RCV000616011 RCV003430704

NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)

SNV
Germline

Chr9:127663208

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA173642

rs_587784455

1 SubmittersRCV000147709

NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)

SNV
Germline

Chr9:127666236

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA173637

rs_587784453

4 SubmittersRCV000147705 RCV000636306 RCV001265418

NM_001032221.6(STXBP1):c.1029+1G>T

SNV
Germline

Chr9:127672117

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA234988

rs_727504173

3 SubmittersRCV000595386 RCV001726006 RCV002514965

NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)

SNV
Germline/somatic

Chr9:127668159

Pathogenic/Likely pathogenic

not specified
Developmental and epileptic encephalopathy, 4
Condition: not provided
Early onset epileptic encephalopathy
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome
Inborn genetic diseases
Spastic ataxia
West syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302345

rs_786205598

14 SubmittersRCV000502114 RCV000515202 RCV000171427 RCV000509312 RCV000700520 RCV001265420 RCV001266353 RCV001640264 RCV003488419

NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)

SNV
Germline

Chr9:127661140

Pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided
7 conditions
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA203284

rs_794727792

10 SubmittersRCV000179420 RCV000189595 RCV000626842 RCV001380262 RCV001265297 RCV001260782

NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)

SNV
Germline

Chr9:127666206

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 4
Cerebellar vermis hypoplasia
Developmental and epileptic encephalopathy
Congenital cerebellar hypoplasia
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA303075

rs_794727970

9 SubmittersRCV000180590 RCV000504117 RCV000779652 RCV000796167 RCV001258012 RCV001265518

NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp)

SNV
Germline

Chr9:127612439

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA318901

rs_796053378

2 SubmittersRCV000189628 RCV001218642

NM_001032221.6(STXBP1):c.37+3A>T

SNV
Germline

Chr9:127612443

Likely pathogenic

Condition: not provided
Infantile epilepsy syndrome

Criteria Provided
Single Submitter

CA318903

rs_796053379

2 SubmittersRCV000189629 RCV001265153

NM_001032221.6(STXBP1):c.87+1G>A

SNV
Germline

Chr9:127651653

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA318843

rs_796053350

3 SubmittersRCV000189593 RCV002517020

NM_001032221.6(STXBP1):c.88-2A>C

SNV
Germline

Chr9:127653713

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA318844

rs_796053351

1 SubmittersRCV000189594

NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)

SNV
Germline

Chr9:127653794

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA318913

rs_1554776228

1 SubmittersRCV001996146

NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys)

SNV
Germline

Chr9:127658429

Likely pathogenic

Infantile epilepsy syndrome
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA318845

rs_796053352

2 SubmittersRCV001265425 RCV005089960

NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)

SNV
Germline

Chr9:127660033

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases
STXBP1-related disorder

Criteria Provided
Conflicting Classifications

CA318830

rs_34830702

6 SubmittersRCV000189584 RCV000698059 RCV001088539 RCV002317654 RCV004553036

NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)

SNV
Germline

Chr9:127661192

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Intellectual disability
Intellectual disability
Seizure
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA318847

rs_796053353

11 SubmittersRCV000189597 RCV000416131 RCV001061798 RCV001260844 RCV000851509 RCV002252038

NM_001032221.6(STXBP1):c.430-1G>T

SNV
Germline

Chr9:127663204

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA318849

rs_796053354

1 SubmittersRCV000189598

NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr9:127663343

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA318850

rs_796053355

7 SubmittersRCV000189599 RCV000415749 RCV000548823 RCV001265515 RCV002273977

NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr9:127663344

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Photosensitive tonic-clonic seizure
Neurodegeneration
Autism
Intellectual disability, severe
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318852

rs_796053356

11 SubmittersRCV000189600 RCV000796165 RCV001003592 RCV002272167 RCV002345682

NM_001032221.6(STXBP1):c.578+1G>T

SNV
Germline

Chr9:127663354

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA318854

rs_796053357

2 SubmittersRCV000189601

NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)

SNV
Germline

Chr9:127666205

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases
Developmental and epileptic encephalopathy, 4

Criteria Provided
Conflicting Classifications

CA318915

rs_796053359

4 SubmittersRCV000549629 RCV002372156 RCV003150811

NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)

SNV
Germline

Chr9:127666205

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome
STXBP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA318859

rs_796053359

11 SubmittersRCV000189604 RCV000415997 RCV000819097 RCV001265520 RCV003335187

NM_001032221.6(STXBP1):c.795-1G>A

SNV
Germline

Chr9:127668079

Pathogenic

Developmental and epileptic encephalopathy, 4
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA318861

rs_1554777708

2 SubmittersRCV002272880 RCV003389080

NM_001032221.6(STXBP1):c.815G>A (p.Gly272Glu)

SNV
Germline

Chr9:127668100

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA318917

rs_1554777718

2 SubmittersRCV002031219 RCV005505399

NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)

SNV
Germline

Chr9:127668160

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Inborn genetic diseases
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA318862

rs_796053361

12 SubmittersRCV000189606 RCV000416099 RCV000636416 RCV000623542 RCV001265522

NM_001032221.6(STXBP1):c.904G>T (p.Glu302Ter)

SNV
Germline

Chr9:127669899

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA318864

rs_796053362

1 SubmittersRCV000189607

NM_001032221.6(STXBP1):c.1030-1G>T

SNV
Germline

Chr9:127673180

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA318868

rs_796053364

1 SubmittersRCV000189609

NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)

SNV
Germline

Chr9:127673212

Pathogenic/Likely pathogenic

Condition: not provided
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA318869

rs_796053365

3 SubmittersRCV000189610 RCV001265298 RCV002463658

NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)

SNV
Germline

Chr9:127673250

Pathogenic

Condition: not provided
Epileptic encephalopathy
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4
Intellectual disability
Infantile epilepsy syndrome
Cerebellar ataxia
Moderate global developmental delay
Tremor

Criteria Provided
Multiple Submitters
No Conflicts

CA318871

rs_796053366

11 SubmittersRCV000189611 RCV000416987 RCV000477371 RCV001336021 RCV001260836 RCV001265514 RCV001807119

NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)

SNV
Germline

Chr9:127675909

Pathogenic

Condition: not provided
Epileptic encephalopathy
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA318875

rs_796053367

11 SubmittersRCV000189614 RCV000417024 RCV000636419 RCV001265293 RCV001332690 RCV004020295

NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met)

SNV
Germline

Chr9:127676650

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA318881

rs_748965227

2 SubmittersRCV000189617 RCV001088784

NM_001032221.6(STXBP1):c.1359+1G>A

SNV
Germline

Chr9:127676754

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA318883

rs_796053370

5 SubmittersRCV000189618 RCV001204641 RCV001781559

NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)

SNV
Germline

Chr9:127678510

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Intellectual disability
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA318877

rs_796053368

8 SubmittersRCV000189615 RCV000415832 RCV000471170 RCV001260800 RCV002514068

NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His)

SNV
Germline

Chr9:127680209

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA318886

rs_796053372

2 SubmittersRCV000189620 RCV001857659

NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser)

SNV
Germline

Chr9:127682509

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA318890

rs_796053373

2 SubmittersRCV000189622 RCV000789013

NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)

SNV
Germline

Chr9:127682509

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Infantile epilepsy syndrome
See cases
Developmental and epileptic encephalopathy
Developmental disorder
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA318892

rs_796053373

14 SubmittersRCV000189623 RCV000415936 RCV001265516 RCV001420235 RCV001071757 RCV003126574 RCV005624341

NM_001032221.6(STXBP1):c.1652G>C (p.Arg551Pro)

SNV
Germline

Chr9:127682510

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA318894

rs_796053374

1 SubmittersRCV000189624

NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr9:127682530

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA318898

rs_796053376

2 SubmittersRCV000189626 RCV002514069

NM_001032221.6(STXBP1):c.1702+1G>A

SNV
Germline

Chr9:127682561

Pathogenic

Condition: not provided
STXBP1-associated neurodevelopmental disorder
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA318900

rs_796053377

6 SubmittersRCV000189627 RCV000578282 RCV000796895 RCV001265152 RCV001253119

NM_001032221.6(STXBP1):c.875G>T (p.Arg292Leu)

SNV
Germline

Chr9:127668160

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA204681

rs_796053361

1 SubmittersRCV000190701

NM_001032221.6(STXBP1):c.1029+1G>C

SNV
Germline

Chr9:127672117

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA206776

rs_727504173

1 SubmittersRCV000193347

NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter)

SNV
Germline

Chr9:127668083

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA10582613

rs_751170778

1 SubmittersRCV000232712

NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)

SNV
Germline

Chr9:127678475

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5248542

rs_777499631

5 SubmittersRCV000251078 RCV001083430 RCV002317783 RCV000725948

NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)

SNV
Germline

Chr9:127676671

Pathogenic

Condition: not provided
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588466

rs_886039435

4 SubmittersRCV000254966 RCV001265291 RCV001240474

NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)

SNV
Germline

Chr9:127653751

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Condition: not provided
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603014

rs_886041668

3 SubmittersRCV000792098 RCV000334893 RCV001265295

NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)

SNV
Germline

Chr9:127675910

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Inborn genetic diseases
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603018

rs_886041246

18 SubmittersRCV000369586 RCV000416146 RCV000458588 RCV000622955 RCV001265512

NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg)

SNV
Germline

Chr9:127673211

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10603076

rs_886041337

2 SubmittersRCV000331872 RCV004527371

NM_001032221.6(STXBP1):c.902+1G>C

SNV
Germline

Chr9:127668188

Pathogenic

Condition: not provided
Infantile epilepsy syndrome

Criteria Provided
Single Submitter

CA10603142

rs_886041978

2 SubmittersRCV000321668 RCV001265146

NM_001032221.6(STXBP1):c.1335C>T (p.His445=)

SNV
Germline

Chr9:127676729

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA5248515

rs_372348815

2 SubmittersRCV000329442 RCV001423321

NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)

SNV
Germline

Chr9:127676714

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5248513

rs_370249358

7 SubmittersRCV000516890 RCV000726837 RCV001080534 RCV002317864

NM_001032221.6(STXBP1):c.1012C>T (p.Gln338Ter)

SNV
Germline

Chr9:127672099

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042633

rs_1057517856

1 SubmittersRCV000414453

NM_001032221.6(STXBP1):c.1549G>T (p.Ala517Ser)

SNV
Germline

Chr9:127682407

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042662

rs_1057518123

1 SubmittersRCV000412866

NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu)

SNV
Germline

Chr9:127682510

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042750

rs_796053374

2 SubmittersRCV000414301 RCV002523940

NM_001032221.6(STXBP1):c.877C>T (p.His293Tyr)

SNV
Germline

Chr9:127668162

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042764

rs_1057517880

1 SubmittersRCV000414192

NM_001032221.6(STXBP1):c.1082C>T (p.Thr361Ile)

SNV
Germline

Chr9:127673233

Likely pathogenic

Epileptic encephalopathy

No Assertion Criteria Provided

CA16043619

rs_1057518985

1 SubmittersRCV000415156

NM_001032221.6(STXBP1):c.1249+1G>C

SNV
Germline

Chr9:127675943

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16043836

rs_1057519189

1 SubmittersRCV000416098

NM_001032221.6(STXBP1):c.902+1G>A

SNV
Germline

Chr9:127668188

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA16044009

rs_886041978

2 SubmittersRCV000415793

NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)

SNV
Germline

Chr9:127672093

Pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16044277

rs_1057519501

3 SubmittersRCV000416539 RCV001861468 RCV002418241

NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter)

SNV
Germline

Chr9:127678479

Pathogenic

Epileptic encephalopathy

Criteria Provided
Single Submitter

CA16044322

rs_1057519539

1 SubmittersRCV000416969

NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter)

SNV
Germline

Chr9:127682423

Pathogenic

Epileptic encephalopathy

Criteria Provided
Single Submitter

CA16044323

rs_1057519537

1 SubmittersRCV000416996

NM_001032221.6(STXBP1):c.579-2A>G

SNV
Germline

Chr9:127665245

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16605319

rs_112111568

3 SubmittersRCV000423631

NM_001032221.6(STXBP1):c.794+5G>A

SNV
Germline

Chr9:127666301

Pathogenic

Condition: not provided
Infantile epilepsy syndrome

Criteria Provided
Single Submitter

CA16605321

rs_1057520631

2 SubmittersRCV000444271 RCV001265150

NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp)

SNV
Germline

Chr9:127682500

Likely pathogenic

Condition: not provided
Infantile epilepsy syndrome

Criteria Provided
Single Submitter

CA16605477

rs_1057523381

2 SubmittersRCV000430934 RCV001265344

NM_001032221.6(STXBP1):c.767T>C (p.Leu256Pro)

SNV
Germline

Chr9:127666269

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16605551

rs_1057524834

1 SubmittersRCV000444312

NM_001032221.6(STXBP1):c.1360-2A>G

SNV
Germline

Chr9:127678429

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16605571

rs_1057522982

1 SubmittersRCV000438565

NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter)

SNV
Germline

Chr9:127682547

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16605573

rs_1057520544

1 SubmittersRCV000427600

NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)

SNV
Germline

Chr9:127666245

Conflicting classifications of pathogenicity

Condition: not provided
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy, 4

Criteria Provided
Conflicting Classifications

CA16606218

rs_1057524795

3 SubmittersRCV000436434 RCV001265299 RCV002283481

NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro)

SNV
Germline

Chr9:127661161

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA16612587

rs_1060501724

1 SubmittersRCV000456399

NM_001032221.6(STXBP1):c.1434G>A (p.Trp478Ter)

SNV
Germline

Chr9:127678505

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA16612591

rs_1060501722

1 SubmittersRCV000464099

NM_001032221.6(STXBP1):c.84G>A (p.Trp28Ter)

SNV
Germline

Chr9:127651649

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16618736

rs_1064793984

1 SubmittersRCV000481498

NM_001032221.6(STXBP1):c.420T>A (p.Tyr140Ter)

SNV
Germline

Chr9:127661196

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16618738

rs_1064796989

1 SubmittersRCV000481583

NM_001032221.6(STXBP1):c.748C>T (p.Gln250Ter)

SNV
Germline

Chr9:127666250

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16618740

rs_1064796720

1 SubmittersRCV000483425

NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)

SNV
Germline

Chr9:127668174

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA16618741

rs_1064794322

2 SubmittersRCV000485374 RCV001851183

NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)

SNV
Germline

Chr9:127675910

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16618744

rs_886041246

2 SubmittersRCV000478807 RCV001089744

NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr)

SNV
Germline

Chr9:127676682

Conflicting classifications of pathogenicity

Condition: not provided
Infantile epilepsy syndrome
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA5248508

rs_148131665

3 SubmittersRCV000478988 RCV001265511 RCV001349160

NM_001032221.6(STXBP1):c.107T>G (p.Leu36Ter)

SNV
Germline

Chr9:127653734

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375176209

rs_1085307900

1 SubmittersRCV000489814

NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn)

SNV
Germline

Chr9:127666197

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933817

rs_1085308022

1 SubmittersRCV000489440

NM_001032221.6(STXBP1):c.963+1G>T

SNV
Germline

Chr9:127669959

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374935037

rs_1085307465

1 SubmittersRCV000490148

NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser)

SNV
Germline

Chr9:127672090

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374935919

rs_1085307916

3 SubmittersRCV000489992 RCV003753124 RCV002466257

NM_001032221.6(STXBP1):c.872T>C (p.Leu291Pro)

SNV
Germline

Chr9:127668157

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374934675

rs_1131691928

1 SubmittersRCV000494104

NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)

SNV
Germline

Chr9:127682489

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA374939370

rs_121918317

5 SubmittersRCV000494083 RCV001290393 RCV000791831

NM_003165.6(STXBP1):c.1708A>G (p.Thr570Ala)

SNV
Germline

Chr9:127684373

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374940785

rs_1131691742

1 SubmittersRCV000493328

NM_001032221.6(STXBP1):c.1706C>T (p.Ser569Phe)

SNV
Germline

Chr9:127690778

Likely pathogenic

Non-syndromic intellectual disability

Criteria Provided
Single Submitter

CA374943186

rs_1135401819

1 SubmittersRCV000496201

NM_001032221.6(STXBP1):c.87+2T>C

SNV
Germline

Chr9:127651654

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375176160

rs_1554775960

1 SubmittersRCV000503704

NM_001032221.6(STXBP1):c.664-1G>A

SNV
Germline

Chr9:127666165

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933657

rs_1554777464

1 SubmittersRCV000513540

NM_001032221.6(STXBP1):c.707G>A (p.Gly236Asp)

SNV
Germline

Chr9:127666209

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933892

rs_1554777474

1 SubmittersRCV000519228

NM_001032221.6(STXBP1):c.1461G>C (p.Glu487Asp)

SNV
Germline

Chr9:127678532

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374938004

rs_1554778676

1 SubmittersRCV000523962

NM_001032221.6(STXBP1):c.326-1G>T

SNV
Germline

Chr9:127661101

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374932136

rs_1554776948

3 SubmittersRCV000543201 RCV001030035

NM_001032221.6(STXBP1):c.1111-2A>G

SNV
Germline

Chr9:127675802

Pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374936675

rs_1554778417

2 SubmittersRCV000527133 RCV000721132

NM_001032221.6(STXBP1):c.1360-2A>T

SNV
Germline

Chr9:127678429

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374937651

rs_1057522982

1 SubmittersRCV000553132

NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn)

SNV
Germline

Chr9:127684454

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5248634

rs_749807465

2 SubmittersRCV000531208 RCV001707725

NM_001032221.6(STXBP1):c.88-2A>G

SNV
Germline

Chr9:127653713

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375176162

rs_796053351

1 SubmittersRCV000579020

NM_001032221.6(STXBP1):c.170-2A>G

SNV
Germline

Chr9:127658373

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA375176362

rs_1554776674

5 SubmittersRCV000578961 RCV000680109 RCV001265147

NM_001032221.6(STXBP1):c.1075C>T (p.Gln359Ter)

SNV
Germline

Chr9:127673226

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374936198

rs_1554778215

1 SubmittersRCV000579060

NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)

SNV
Germline

Chr9:127666293

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 4
Intellectual disability

Criteria Provided
Conflicting Classifications

CA374934263

rs_1316686443

2 SubmittersRCV000585735 RCV001260852

NM_001032221.6(STXBP1):c.794+1G>A

SNV
Germline

Chr9:127666297

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374934273

rs_1554777496

3 SubmittersRCV000596140 RCV001214993 RCV002470917

NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)

SNV
Germline

Chr9:127653771

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA467433839

rs_1462537561

4 SubmittersRCV000616990 RCV001468836 RCV004584773

NM_001032221.6(STXBP1):c.419A>G (p.Tyr140Cys)

SNV
Germline

Chr9:127661195

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA200262961

rs_774228113

2 SubmittersRCV000610309 RCV002531667

NM_001032221.6(STXBP1):c.1110G>A (p.Gln370=)

SNV
Germline

Chr9:127673261

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA467230265

rs_1554778227

1 SubmittersRCV000623191

NM_001032221.6(STXBP1):c.1359+2T>C

SNV
Germline

Chr9:127676755

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA374937568

rs_1554778509

1 SubmittersRCV000624411

NM_001032221.6(STXBP1):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr9:127682451

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA374939205

rs_767199598

1 SubmittersRCV000624344

NM_001032221.6(STXBP1):c.733C>G (p.His245Asp)

SNV
Unknown

Chr9:127666235

Pathogenic

Severe global developmental delay
Microcephaly

Criteria Provided
Single Submitter

CA374934012

rs_1554777480

1 SubmittersRCV000626840

NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)

SNV
Germline

Chr9:127666187

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Infantile epilepsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374933766

rs_1554777470

3 SubmittersRCV000657782 RCV001202015 RCV001265417

NM_001032221.6(STXBP1):c.902+4A>G

SNV
Germline

Chr9:127668191

Likely pathogenic

Infantile epilepsy syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA658822747

rs_1554777733

2 SubmittersRCV001265149 RCV000658438

NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter)

SNV
Germline

Chr9:127651644

Pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA375176134

rs_1564346538

2 SubmittersRCV000680112 RCV003753152

NM_001032221.6(STXBP1):c.578+1G>A

SNV
Germline

Chr9:127663354

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374933315

rs_796053357

3 SubmittersRCV000680111

NM_001032221.6(STXBP1):c.817G>T (p.Glu273Ter)

SNV
Germline

Chr9:127668102

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374934555

rs_1564352002

1 SubmittersRCV000694876

NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)

SNV
Germline

Chr9:127682510

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA374939465

rs_796053374

5 SubmittersRCV000686294 RCV001270414 RCV002544743

NM_001032221.6(STXBP1):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr9:127665275

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374933449

rs_1564351103

1 SubmittersRCV000687594

NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter)

SNV
Germline

Chr9:127682415

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA374939044

rs_1564357089

1 SubmittersRCV000721133

NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn)

SNV
Germline

Chr9:127678525

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374937978

rs_1564355642

1 SubmittersRCV000731273

NM_001032221.6(STXBP1):c.586A>T (p.Lys196Ter)

SNV
Germline

Chr9:127665254

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933407

rs_1564351084

1 SubmittersRCV000760663

NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter)

SNV
Germline

Chr9:127678498

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374937891

rs_1564355614

2 SubmittersRCV000760854 RCV001249693

NM_001032221.6(STXBP1):c.578G>T (p.Gly193Val)

SNV
Germline

Chr9:127663353

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374933313

rs_1588313568

1 SubmittersRCV000804423

NM_001032221.6(STXBP1):c.1141G>C (p.Glu381Gln)

SNV
Germline

Chr9:127675834

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5248472

rs_762767233

2 SubmittersRCV000794359 RCV004777868

NM_001032221.6(STXBP1):c.664-1G>C

SNV
Germline

Chr9:127666165

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374933658

rs_1554777464

1 SubmittersRCV000818065

NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)

SNV
Germline

Chr9:127658441

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375176513

rs_1588302912

2 SubmittersRCV000988248

NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)

SNV
Unknown

Chr9:127658446

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375176522

rs_1461664423

1 SubmittersRCV000988249

NM_001032221.6(STXBP1):c.430-1G>A

SNV
Unknown

Chr9:127663204

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374932871

rs_796053354

1 SubmittersRCV000988252

NM_001032221.6(STXBP1):c.579-1G>A

SNV
Germline

Chr9:127665246

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374933386

rs_1588317190

2 SubmittersRCV000988253

NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)

SNV
Germline

Chr9:127668147

Likely pathogenic

Developmental and epileptic encephalopathy, 4
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA374934651

rs_1588324025

2 SubmittersRCV000988254 RCV001255351

NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu)

SNV
Germline

Chr9:127676695

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA5248510

rs_773261815

3 SubmittersRCV000999216 RCV001308231

NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)

SNV
Germline

Chr9:127660091

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374931802

rs_1588306948

1 SubmittersRCV000995655

NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter)

SNV
Germline

Chr9:127676655

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374937275

rs_1588341629

1 SubmittersRCV000995656

NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter)

SNV
Germline

Chr9:127678498

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA374937889

rs_1564355614

1 SubmittersRCV001003469

NM_001032221.6(STXBP1):c.1216C>G (p.Arg406Gly)

SNV
Unknown

Chr9:127675909

Likely pathogenic

Epileptic encephalopathy

No Assertion Criteria Provided

CA374937075

rs_796053367

1 SubmittersRCV001003593

NM_001032221.6(STXBP1):c.1249+1G>A

SNV
Germline

Chr9:127675943

Pathogenic

Epileptic encephalopathy
Condition: not provided

Criteria Provided
Single Submitter

CA374937188

rs_1057519189

2 SubmittersRCV001003594 RCV005603675

NM_001032221.6(STXBP1):c.1359+1G>T

SNV
Unknown

Chr9:127676754

Pathogenic

Autism
Global developmental delay

No Assertion Criteria Provided

CA374937565

rs_796053370

1 SubmittersRCV001003595

NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)

SNV
Germline

Chr9:127653749

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375176246

rs_2132444527

1 SubmittersRCV001004708

NM_001032221.6(STXBP1):c.1461+1G>T

SNV
Germline

Chr9:127678533

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA374938009

rs_2538589846

4 SubmittersRCV001004748 RCV001541939 RCV001860567

NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp)

SNV
Germline

Chr9:127678446

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
not specified
STXBP1-related disorder

Criteria Provided
Conflicting Classifications

CA5248538

rs_750968891

3 SubmittersRCV001034310 RCV001819737 RCV004740545

NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu)

SNV
Germline

Chr9:127653725

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA375176186

rs_1840653547

1 SubmittersRCV001051053

NM_001032221.6(STXBP1):c.145G>C (p.Asp49His)

SNV
Germline

Chr9:127653772

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases
Multiple congenital anomalies/dysmorphic syndrome

Criteria Provided
Conflicting Classifications

CA375176300

rs_1244732832

3 SubmittersRCV001038618 RCV003259039 RCV005626304

NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter)

SNV
Germline

Chr9:127653784

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA375176328

rs_749965674

1 SubmittersRCV001038009

NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp)

SNV
Germline

Chr9:127663349

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374933293

rs_1841142873

2 SubmittersRCV001061997 RCV004789394

NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp)

SNV
Germline

Chr9:127673190

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374936109

rs_1841611651

1 SubmittersRCV001058311

NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter)

SNV
Germline

Chr9:127676652

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374937263

rs_1841766225

1 SubmittersRCV001052731

NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser)

SNV
Germline

Chr9:127684414

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5248627

rs_757607352

3 SubmittersRCV001050553 RCV003160396 RCV003480926

NM_001032221.6(STXBP1):c.247-1G>A

SNV
Germline

Chr9:127660029

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374931666

rs_1840967817

1 SubmittersRCV001050020

NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)

SNV
Germline

Chr9:127663205

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374932874

rs_1211863124

2 SubmittersRCV001089743 RCV001171879

NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr)

SNV
Germline

Chr9:127666286

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374934247

rs_1841290957

1 SubmittersRCV001089745

NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter)

SNV
Germline

Chr9:127682446

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374939172

rs_756998073

1 SubmittersRCV001089742

NM_001032221.6(STXBP1):c.170-1G>C

SNV
Germline

Chr9:127658374

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375176364

rs_112002192

2 SubmittersRCV001090604 RCV002281583

NM_001032221.6(STXBP1):c.1029+1G>A

SNV
Germline

Chr9:127672117

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA374936018

rs_727504173

3 SubmittersRCV001090609 RCV001253063 RCV002379641

NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter)

SNV
Germline

Chr9:127673225

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374936194

rs_1841613716

1 SubmittersRCV001090610

NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys)

SNV
Germline

Chr9:127673256

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374936257

rs_1841616772

1 SubmittersRCV001091116

NM_001032221.6(STXBP1):c.1461+5G>A

SNV
Germline

Chr9:127678537

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA1139661200

rs_1841870815

1 SubmittersRCV001091119

NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu)

SNV
Germline

Chr9:127682486

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374939361

rs_1842044352

1 SubmittersRCV001091121

NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys)

SNV
Germline

Chr9:127658419

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5248251

rs_754668616

2 SubmittersRCV001222853 RCV001566722

NM_001032221.6(STXBP1):c.268G>C (p.Asp90His)

SNV
Germline

Chr9:127660051

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA374931714

rs_1840970680

3 SubmittersRCV001214862 RCV001726451 RCV002451469

NM_001032221.6(STXBP1):c.429G>A (p.Gln143=)

SNV
Germline

Chr9:127661205

Conflicting classifications of pathogenicity

Inborn genetic diseases
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA467221667

rs_1841030849

2 SubmittersRCV001267328 RCV001224719

NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg)

SNV
Germline

Chr9:127682488

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374939366

rs_1842044505

1 SubmittersRCV001224723

NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)

SNV
Germline

Chr9:127682514

Pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374939506

rs_942940725

2 SubmittersRCV001215125 RCV001799745

NM_001032221.6(STXBP1):c.416C>A (p.Pro139Gln)

SNV
Germline

Chr9:127661192

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374932523

rs_796053353

1 SubmittersRCV001201587

NM_001032221.6(STXBP1):c.636T>A (p.Tyr212Ter)

SNV
Germline

Chr9:127665304

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374933518

rs_1841238690

1 SubmittersRCV001232299

NM_001032221.6(STXBP1):c.578G>C (p.Gly193Ala)

SNV
Germline

Chr9:127663353

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374933311

rs_1588313568

1 SubmittersRCV001241713

NM_001032221.6(STXBP1):c.636T>G (p.Tyr212Ter)

SNV
Germline

Chr9:127665304

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374933519

rs_1841238690

1 SubmittersRCV001245988

NM_001032221.6(STXBP1):c.325+2T>A

SNV
Germline

Chr9:127660110

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374931849

rs_1840976417

1 SubmittersRCV001227609

NM_001032221.6(STXBP1):c.1360-2A>C

SNV
Germline

Chr9:127678429

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374937650

rs_1057522982

1 SubmittersRCV001246624

NM_001032221.6(STXBP1):c.663+1G>A

SNV
Germline

Chr9:127665332

Pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374933584

rs_1841240415

3 SubmittersRCV001249710 RCV001879760 RCV004774358

NM_001032221.6(STXBP1):c.246+1G>C

SNV
Germline

Chr9:127658452

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375176536

rs_1840868164

1 SubmittersRCV001250744

NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)

SNV
Germline/somatic

Chr9:127676671

Likely pathogenic

Intellectual disability
Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374937335

rs_886039435

1 SubmittersRCV001255367 RCV001253476

NM_001032221.6(STXBP1):c.1360-7C>T

SNV
Germline

Chr9:127678424

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA200265336

rs_895077278

2 SubmittersRCV001253041 RCV003588726

NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly)

SNV
Germline

Chr9:127663329

Likely pathogenic

Intellectual disability

Criteria Provided
Single Submitter

CA374933210

rs_1841140785

1 SubmittersRCV001260802

NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)

SNV
Germline

Chr9:127682488

Pathogenic

Developmental and epileptic encephalopathy, 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374939367

rs_1842044505

2 SubmittersRCV001262157 RCV001552557

NM_001032221.6(STXBP1):c.37+3A>C

SNV
Germline

Chr9:127612443

Likely pathogenic

Infantile epilepsy syndrome

No Assertion Criteria Provided

CA1139661170

rs_796053379

1 SubmittersRCV001265136

NM_001032221.6(STXBP1):c.663+1G>C

SNV
Germline

Chr9:127665332

Pathogenic

Infantile epilepsy syndrome
Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374933585

rs_1841240415

2 SubmittersRCV001265151 RCV001775165

NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr)

SNV
Germline

Chr9:127653752

Likely pathogenic

Infantile epilepsy syndrome

No Assertion Criteria Provided

CA375176251

rs_1840655911

1 SubmittersRCV001265296

NM_001032221.6(STXBP1):c.755T>C (p.Met252Thr)

SNV
Germline

Chr9:127666257

Pathogenic

Infantile epilepsy syndrome
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374934121

rs_1841289209

2 SubmittersRCV001265517 RCV003588732

NM_001032221.6(STXBP1):c.875G>C (p.Arg292Pro)

SNV
Germline

Chr9:127668160

Pathogenic

Infantile epilepsy syndrome

No Assertion Criteria Provided

CA374934679

rs_796053361

1 SubmittersRCV001265423

NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)

SNV
Germline

Chr9:127678509

Likely pathogenic

Infantile epilepsy syndrome
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374937924

rs_1841869298

2 SubmittersRCV001265519 RCV001377782

NM_001032221.6(STXBP1):c.1654T>C (p.Cys552Arg)

SNV
Germline

Chr9:127682512

Pathogenic

Infantile epilepsy syndrome
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374939488

rs_1842046459

2 SubmittersRCV001265419 RCV003588731

NM_001032221.6(STXBP1):c.136A>G (p.Lys46Glu)

SNV
Germline

Chr9:127653763

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA375176277

rs_1840656743

1 SubmittersRCV001266945

NM_001032221.6(STXBP1):c.792C>A (p.Tyr264Ter)

SNV
Germline

Chr9:127666294

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA374934265

rs_1841291684

1 SubmittersRCV001266619

NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)

SNV
Germline

Chr9:127663335

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Inborn genetic diseases
Condition: not provided
Autism spectrum disorder
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374933242

rs_1841141204

7 SubmittersRCV001863164 RCV002350505 RCV003329397 RCV001291380 RCV002051934

NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter)

SNV
Germline

Chr9:127682428

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA374939102

rs_1842039791

1 SubmittersRCV001293010

NM_001032221.6(STXBP1):c.88G>A (p.Val30Met)

SNV
Germline

Chr9:127653715

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA375176169

rs_1840653229

1 SubmittersRCV001306800

NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly)

SNV
Germline

Chr9:127673211

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374936160

rs_886041337

1 SubmittersRCV001325664

NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)

SNV
Germline

Chr9:127660081

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases
Spastic ataxia

Criteria Provided
Conflicting Classifications

CA5248285

rs_764758291

3 SubmittersRCV001871792 RCV002438759 RCV001647179

NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)

SNV
Germline

Chr9:127663209

Pathogenic/Likely pathogenic

Spastic ataxia
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374932881

rs_2131462357

3 SubmittersRCV001647178 RCV001859245 RCV002286839

NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg)

SNV
Germline

Chr9:127675942

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374937186

rs_2131510237

1 SubmittersRCV001726526

NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val)

SNV
Germline

Chr9:127666287

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374934250

rs_2131473052

1 SubmittersRCV001376171

NM_001032221.6(STXBP1):c.1110+3A>C

SNV
Germline

Chr9:127673264

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA2499219626

rs_2131501481

1 SubmittersRCV001420160

NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro)

SNV
Germline

Chr9:127668127

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374934606

rs_2131481488

4 SubmittersRCV001531112 RCV004785266

NM_001032221.6(STXBP1):c.1359+5G>A

SNV
Germline

Chr9:127676758

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA2499219628

rs_2131513670

2 SubmittersRCV001533418 RCV001873783

NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)

SNV
Germline

Chr9:127676676

Pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374937350

rs_2131513223

3 SubmittersRCV001542586 RCV003753180 RCV004785271

NM_001032221.6(STXBP1):c.721T>A (p.Ser241Thr)

SNV
Germline

Chr9:127666223

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933971

rs_2131472700

1 SubmittersRCV001543450

NM_001032221.6(STXBP1):c.722C>A (p.Ser241Tyr)

SNV
Germline

Chr9:127666224

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933977

rs_2131472708

1 SubmittersRCV001543451

NM_001032221.6(STXBP1):c.-3G>T

SNV
Germline

Chr9:127612401

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5248186

rs_754349925

2 SubmittersRCV001555293 RCV002370197

NM_001032221.6(STXBP1):c.616C>T (p.Gln206Ter)

SNV
Germline

Chr9:127665284

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933471

rs_2131469253

1 SubmittersRCV001567664

NM_001032221.6(STXBP1):c.1726C>T (p.Gln576Ter)

SNV
Germline

Chr9:127690798

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374943334

rs_2131561363

1 SubmittersRCV001566676

NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)

SNV
Germline

Chr9:127673235

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases
Developmental and epileptic encephalopathy, 4

Criteria Provided
Conflicting Classifications

CA200264361

rs_1046891783

4 SubmittersRCV001571614 RCV001866033 RCV002424993 RCV003136110

NM_001032221.6(STXBP1):c.164T>C (p.Ile55Thr)

SNV
Germline

Chr9:127653791

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375176344

rs_2132444862

1 SubmittersRCV001586328

NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)

SNV
Germline

Chr9:127682513

Pathogenic/Likely pathogenic

Condition: not provided
Seizure
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374939495

rs_2131536069

3 SubmittersRCV001586570 RCV004546667 RCV003152767

NM_001032221.6(STXBP1):c.903G>A (p.Gln301=)

SNV
Germline

Chr9:127669898

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA467228107

rs_1364462270

2 SubmittersRCV001592054 RCV003753185

NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro)

SNV
Germline

Chr9:127668145

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374934649

rs_2131481623

1 SubmittersRCV001724738

NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg)

SNV
Germline

Chr9:127653749

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA375176248

rs_2132444527

1 SubmittersRCV001726699

NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg)

SNV
Germline

Chr9:127678528

Likely pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA374937990

rs_2131522449

1 SubmittersRCV001726702

NM_001032221.6(STXBP1):c.733C>A (p.His245Asn)

SNV
Germline

Chr9:127666235

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA374934011

rs_1554777480

1 SubmittersRCV001726703

NM_001032221.6(STXBP1):c.963+3A>C

SNV
Germline

Chr9:127669961

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2499219623

rs_2131489143

1 SubmittersRCV001727488

NM_001032221.6(STXBP1):c.37+1G>C

SNV
Germline

Chr9:127612441

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375173606

rs_2132275717

1 SubmittersRCV001775315

NM_001032221.6(STXBP1):c.1709C>T (p.Thr570Ile)

SNV
Germline

Chr9:127690781

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374943214

rs_2131561276

1 SubmittersRCV001786082

NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro)

SNV
Germline

Chr9:127673194

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374936122

rs_2131501072

1 SubmittersRCV001839311

NM_001032221.6(STXBP1):c.1359+3A>C

SNV
Germline

Chr9:127676756

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA2573143961

rs_2131513660

1 SubmittersRCV001928226

NM_001032221.6(STXBP1):c.225T>G (p.Tyr75Ter)

SNV
Germline

Chr9:127658430

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA375176489

rs_2132461012

1 SubmittersRCV001875757

NM_001032221.6(STXBP1):c.19A>G (p.Lys7Glu)

SNV
Germline

Chr9:127612422

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Seizure

Criteria Provided
Conflicting Classifications

CA375173564

rs_2132275587

2 SubmittersRCV001897986 RCV005624496

NM_001032221.6(STXBP1):c.37+1G>A

SNV
Germline

Chr9:127612441

Pathogenic

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375173605

rs_2132275717

2 SubmittersRCV001953769 RCV003225210

NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys)

SNV
Germline

Chr9:127658380

Pathogenic

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375176376

rs_2132460743

2 SubmittersRCV001953770 RCV003227051

NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg)

SNV
Germline

Chr9:127682485

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374939359

rs_2131535795

1 SubmittersRCV001973846

NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln)

SNV
Germline

Chr9:127660082

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5248286

rs_374269726

3 SubmittersRCV001903126 RCV004815739 RCV004970437

NM_001032221.6(STXBP1):c.325+4A>T

SNV
Germline

Chr9:127660112

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA2573144043

rs_2131451091

1 SubmittersRCV001972177

NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)

SNV
Germline

Chr9:127661104

Likely pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374932148

rs_2131454649

2 SubmittersRCV002045587 RCV002466276

NM_001032221.6(STXBP1):c.1503T>A (p.Tyr501Ter)

SNV
Germline

Chr9:127680198

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374938666

rs_1841946692

1 SubmittersRCV001911421

NM_001032221.6(STXBP1):c.663+5G>A

SNV
Germline

Chr9:127665336

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA2573144056

rs_2131469592

1 SubmittersRCV001898761

NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met)

SNV
Germline

Chr9:127663280

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA374933051

rs_1410933215

2 SubmittersRCV002031932 RCV002551221

NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp)

SNV
Germline

Chr9:127684474

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374941628

rs_2131543392

1 SubmittersRCV002008887

NM_001032221.6(STXBP1):c.797A>G (p.Tyr266Cys)

SNV
Germline

Chr9:127668082

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374934511

rs_2131481245

2 SubmittersRCV002040812 RCV005401911

NM_001032221.6(STXBP1):c.134G>T (p.Cys45Phe)

SNV
Germline

Chr9:127653761

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA375176272

rs_1840656429

2 SubmittersRCV002151970 RCV004047024

NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln)

SNV
Germline

Chr9:127678462

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA374937756

rs_1381421236

2 SubmittersRCV002154395 RCV003070676

NM_001032221.6(STXBP1):c.963+2T>C

SNV
Germline

Chr9:127669960

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA374935040

rs_2539835265

1 SubmittersRCV002291806

NM_001032221.6(STXBP1):c.795-2A>C

SNV
Germline

Chr9:127668078

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374934500

rs_2131481227

1 SubmittersRCV002246749

NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter)

SNV
Germline

Chr9:127673259

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374936267

rs_2131501460

2 SubmittersRCV002246750

NM_001032221.6(STXBP1):c.536T>A (p.Leu179His)

SNV
Germline

Chr9:127663311

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374933116

rs_2131462929

1 SubmittersRCV002276211

NM_001032221.6(STXBP1):c.1462-2A>G

SNV
Germline

Chr9:127680155

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374938430

rs_2131528253

1 SubmittersRCV002279134

NM_001032221.6(STXBP1):c.82T>G (p.Trp28Gly)

SNV
Germline

Chr9:127651647

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375176143

rs_2539771553

1 SubmittersRCV002280066

NM_001032221.6(STXBP1):c.889G>T (p.Ala297Ser)

SNV
Germline

Chr9:127668174

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374934711

rs_1064794322

1 SubmittersRCV002283283

NM_001032221.6(STXBP1):c.579-1G>C

SNV
Germline

Chr9:127665246

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374933387

rs_1588317190

1 SubmittersRCV002287874

NM_001032221.6(STXBP1):c.1359+5G>C

SNV
Germline

Chr9:127676758

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA2580079573

rs_2131513670

1 SubmittersRCV002289381

NM_001032221.6(STXBP1):c.1419C>A (p.Tyr473Ter)

SNV
Germline

Chr9:127678490

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA374937858

rs_2538589269

1 SubmittersRCV002391753

NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)

SNV
Germline

Chr9:127676730

Pathogenic

Developmental and epileptic encephalopathy, 4

No Assertion Criteria Provided

CA374937514

rs_1219725395

1 SubmittersRCV002444403

NM_001032221.6(STXBP1):c.1110+2T>G

SNV
Germline

Chr9:127673263

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA374936278

rs_2538559195

2 SubmittersRCV003138276

NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)

SNV
Germline

Chr9:127666203

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374933858

rs_2539820308

1 SubmittersRCV002466374

NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)

SNV
Germline

Chr9:127682515

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374939513

rs_1408532785

1 SubmittersRCV002466375

NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)

SNV
Germline

Chr9:127665288

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374933481

rs_2539816328

1 SubmittersRCV002466376

NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)

SNV
Germline

Chr9:127666250

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374934084

rs_1064796720

1 SubmittersRCV002466377

NM_001032221.6(STXBP1):c.1030-2A>G

SNV
Germline

Chr9:127673179

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA374936065

rs_2538558406

2 SubmittersRCV002466378 RCV005098432

NM_001032221.6(STXBP1):c.1462-2A>C

SNV
Germline

Chr9:127680155

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374938427

rs_2131528253

1 SubmittersRCV002471859

NM_001032221.6(STXBP1):c.1315A>T (p.Ile439Phe)

SNV
Germline

Chr9:127676709

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374937465

rs_2538576553

1 SubmittersRCV002508901

NM_001032221.6(STXBP1):c.429+1G>A

SNV
Germline

Chr9:127661206

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374932584

rs_2539802827

1 SubmittersRCV003037332

NM_001032221.6(STXBP1):c.1110+1G>A

SNV
Germline

Chr9:127673262

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374936274

rs_2538559187

1 SubmittersRCV003058233

NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)

SNV
Germline

Chr9:127666232

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200263447

rs_375972545

3 SubmittersRCV003087040 RCV003138516 RCV004073312

NM_001032221.6(STXBP1):c.1702+2T>G

SNV
Germline

Chr9:127682562

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374939837

rs_2538613606

1 SubmittersRCV002812034

NM_001032221.6(STXBP1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr9:127612405

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA375173530

rs_2539639191

2 SubmittersRCV002847027 RCV004794596

NM_001032221.6(STXBP1):c.1011C>G (p.Tyr337Ter)

SNV
Germline

Chr9:127672098

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374935947

rs_1165371723

1 SubmittersRCV002862600

NM_001032221.6(STXBP1):c.1702+2T>C

SNV
Germline

Chr9:127682562

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374939839

rs_2538613606

1 SubmittersRCV002894259

NM_001032221.6(STXBP1):c.1702G>C (p.Gly568Arg)

SNV
Germline

Chr9:127682560

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374939824

rs_2538613542

1 SubmittersRCV002947244

NM_001032221.6(STXBP1):c.663+2T>C

SNV
Germline

Chr9:127665333

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374933588

rs_2539816577

1 SubmittersRCV002938817

NM_001032221.6(STXBP1):c.1074C>G (p.Tyr358Ter)

SNV
Germline

Chr9:127673225

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374936195

rs_1841613716

1 SubmittersRCV003010367

NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)

SNV
Germline

Chr9:127676710

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374937466

rs_2538576581

1 SubmittersRCV003034951

NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)

SNV
Germline

Chr9:127653734

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA375176207

rs_1085307900

1 SubmittersRCV003132817

NM_001032221.6(STXBP1):c.17T>C (p.Leu6Pro)

SNV
Germline

Chr9:127612420

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA375173562

rs_2539639339

1 SubmittersRCV003229392

NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)

SNV
Germline

Chr9:127668115

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA374934579

rs_1478208887

2 SubmittersRCV003318149 RCV003588888

NM_001032221.6(STXBP1):c.325+1G>A

SNV
Germline

Chr9:127660109

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374931845

rs_2539799194

1 SubmittersRCV003318519

NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)

SNV
Unknown

Chr9:127678525

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374937979

rs_1564355642

1 SubmittersRCV003322719

NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)

SNV
Germline

Chr9:127682519

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374939536

rs_2538613011

1 SubmittersRCV003335799

NM_001032221.6(STXBP1):c.429+2T>G

SNV
Germline

Chr9:127661207

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374932590

rs_2539802835

1 SubmittersRCV003338164

NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=)

SNV
Germline

Chr9:127678478

Conflicting classifications of pathogenicity

STXBP1-related disorder
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA5248543

rs_746719502

2 SubmittersRCV004552625 RCV003588908

NM_001032221.6(STXBP1):c.1216C>A (p.Arg406Ser)

SNV
Germline

Chr9:127675909

Likely pathogenic

STXBP1-related disorder

Criteria Provided
Single Submitter

CA374937074

rs_796053367

1 SubmittersRCV004552565

NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)

SNV
Germline

Chr9:127678461

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374937753

rs_1239532436

1 SubmittersRCV003447436

NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)

SNV
Germline

Chr9:127682520

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374939545

rs_142595450

1 SubmittersRCV003448798

NM_001032221.6(STXBP1):c.325+5G>A

SNV
Unknown

Chr9:127660113

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA2695211183

rs_2539799215

1 SubmittersRCV003484525

NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)

SNV
Germline

Chr9:127666256

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374934114

rs_2539820701

1 SubmittersRCV003588952

NM_001032221.6(STXBP1):c.1109A>G (p.Gln370Arg)

SNV
Germline

Chr9:127673260

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374936269

rs_2538559163

2 SubmittersRCV003589904 RCV005602050

NM_001032221.6(STXBP1):c.903-2A>G

SNV
Germline

Chr9:127669896

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374934794

rs_2539834585

1 SubmittersRCV003754277

NM_001032221.6(STXBP1):c.1250-2A>G

SNV
Germline

Chr9:127676642

Likely pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374937230

rs_2538575897

1 SubmittersRCV003754355

NM_001032221.6(STXBP1):c.749A>G (p.Gln250Arg)

SNV
Germline

Chr9:127666251

Pathogenic/Likely pathogenic

Inborn genetic diseases
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA374934089

rs_2539820655

2 SubmittersRCV005505719 RCV003754485

NM_001032221.6(STXBP1):c.1457T>C (p.Met486Thr)

SNV
Germline

Chr9:127678528

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374937989

rs_2131522449

1 SubmittersRCV003754814

NM_001032221.6(STXBP1):c.1461+1G>A

SNV
Germline

Chr9:127678533

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA374938006

rs_2538589846

1 SubmittersRCV003754802

NM_001032221.6(STXBP1):c.223T>C (p.Tyr75His)

SNV
Germline

Chr9:127658428

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA375176484

rs_2539792278

1 SubmittersRCV003752638

NM_001032221.6(STXBP1):c.88-1G>A

SNV
Germline

Chr9:127653714

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA375176164

rs_2539777929

1 SubmittersRCV003753671

NM_001032221.6(STXBP1):c.1547+2T>G

SNV
Germline

Chr9:127680244

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

CA374938899

rs_2538600335

1 SubmittersRCV003991212

NM_001032221.6(STXBP1):c.1018G>T (p.Glu340Ter)

SNV
Germline

Chr9:127672105

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

rs_2538552971

1 SubmittersRCV004566392

NM_001032221.6(STXBP1):c.92T>C (p.Leu31Pro)

SNV
Germline

Chr9:127653719

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

rs_2539777941

1 SubmittersRCV004595101

NM_001032221.6(STXBP1):c.122T>C (p.Leu41Pro)

SNV
Germline

Chr9:127653749

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004697459

NM_001032221.6(STXBP1):c.1252A>T (p.Ile418Phe)

SNV
Germline

Chr9:127676646

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004698141

NM_001032221.6(STXBP1):c.1022T>C (p.Leu341Pro)

SNV
Germline

Chr9:127672109

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004727287

NM_001032221.6(STXBP1):c.863G>A (p.Trp288Ter)

SNV
Germline

Chr9:127668148

Pathogenic

STXBP1-related disorder
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV004727663 RCV004727662

NM_001032221.6(STXBP1):c.1557T>G (p.Tyr519Ter)

SNV
Unknown

Chr9:127682415

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

1 SubmittersRCV004759509

NM_001032221.6(STXBP1):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr9:127653730

Pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

1 SubmittersRCV004771576

NM_001032221.6(STXBP1):c.326-1G>C

SNV
Unknown

Chr9:127661101

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

1 SubmittersRCV004813563

NM_001032221.6(STXBP1):c.269A>G (p.Asp90Gly)

SNV
Germline

Chr9:127660052

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004823310

NM_001032221.6(STXBP1):c.310G>T (p.Val104Phe)

SNV
Germline

Chr9:127660093

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005106801 RCV005365410

NM_001032221.6(STXBP1):c.87+5G>A

SNV
Germline

Chr9:127651657

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005123799

NM_001032221.6(STXBP1):c.751G>C (p.Ala251Pro)

SNV
Germline

Chr9:127666253

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005154485

NM_001032221.6(STXBP1):c.1593C>G (p.Tyr531Ter)

SNV
Germline

Chr9:127682451

Pathogenic

Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

1 SubmittersRCV005204050

NM_001032221.6(STXBP1):c.712G>C (p.Asp238His)

SNV
Germline

Chr9:127666214

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005241785

NM_001032221.6(STXBP1):c.707G>T (p.Gly236Val)

SNV
Germline

Chr9:127666209

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005410866

NM_001032221.6(STXBP1):c.260T>A (p.Leu87His)

SNV
Germline

Chr9:127660043

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005410873

NM_001032221.6(STXBP1):c.1061G>T (p.Cys354Phe)

SNV
Unknown

Chr9:127673212

Likely pathogenic

Developmental and epileptic encephalopathy, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005416155

NM_001032221.6(STXBP1):c.578+49A>G

SNV
Germline

Chr9:127663402

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV005499415

NM_001032221.6(STXBP1):c.193A>T (p.Arg65Ter)

SNV
Germline

Chr9:127658398

Likely pathogenic

Intellectual disability

Criteria Provided
Single Submitter

1 SubmittersRCV005625885