List of variants in gene STXBP1 reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 107

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 9q34.11(chr9:130363849-130455691)x1
NM_001032221.6(STXBP1):c.1012C>T (p.Gln338Ter)	rs1057517856
NM_001032221.6(STXBP1):c.1017del (p.Glu340fs)	rs1841566082
NM_001032221.6(STXBP1):c.1029+1G>A	rs727504173
NM_001032221.6(STXBP1):c.1029+1G>T	rs727504173
NM_001032221.6(STXBP1):c.1030-1G>T	rs796053364
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg)	rs886041337
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)	rs796053365
NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter)	rs1841613716
NM_001032221.6(STXBP1):c.1075C>T (p.Gln359Ter)	rs1554778215
NM_001032221.6(STXBP1):c.1079del (p.Gly360fs)	rs1841614275
NM_001032221.6(STXBP1):c.107T>G (p.Leu36Ter)	rs1085307900
NM_001032221.6(STXBP1):c.1092del (p.Lys364fs)	rs1841615616
NM_001032221.6(STXBP1):c.1095_1096del (p.Cys366fs)	rs1057518154
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	rs796053366
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	rs121918321
NM_001032221.6(STXBP1):c.1169_1175dup (p.Ile393fs)	rs796053384
NM_001032221.6(STXBP1):c.1176del (p.Ile393fs)	rs1841724942
NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs)	rs1064793414
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)	rs886041246
NM_001032221.6(STXBP1):c.1249+1G>C	rs1057519189
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)	rs886041668
NM_001032221.6(STXBP1):c.124del (p.Ser42fs)	rs796053380
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)	rs886039435
NM_001032221.6(STXBP1):c.1296dup (p.Pro433fs)	rs796053385
NM_001032221.6(STXBP1):c.1359+1G>A	rs796053370
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs)	rs1554778657
NM_001032221.6(STXBP1):c.1383_1388delinsC (p.Lys461fs)	rs1588346359
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter)	rs1564355614
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)	rs796053368
NM_001032221.6(STXBP1):c.1461+5G>A	rs1841870815
NM_001032221.6(STXBP1):c.1462-2A>G	rs2131528253
NM_001032221.6(STXBP1):c.1470del (p.Ile490fs)	rs796053391
NM_001032221.6(STXBP1):c.148dup (p.Ile50fs)	rs1057518167
NM_001032221.6(STXBP1):c.1510del (p.Thr504fs)	rs796053392
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs)	rs1554778928
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs)	rs1554778930
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs)	rs1842042825
NM_001032221.6(STXBP1):c.1607_1608del (p.Arg536fs)	rs1588354779
NM_001032221.6(STXBP1):c.1611CAT[1] (p.Ile539del)	rs796053386
NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu)	rs1842044352
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)	rs1842044505
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)	rs121918317
NM_001032221.6(STXBP1):c.1644del (p.Asn548fs)	rs1842045865
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser)	rs796053373
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.1652G>C (p.Arg551Pro)	rs796053374
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu)	rs796053374
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)	rs2131536069
NM_001032221.6(STXBP1):c.1662delinsAA (p.Tyr554Ter)	rs1588355023
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)	rs796053376
NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter)	rs1057520544
NM_001032221.6(STXBP1):c.170-1G>C	rs112002192
NM_001032221.6(STXBP1):c.170-2A>G	rs1554776674
NM_001032221.6(STXBP1):c.1702+1G>A	rs796053377
NM_001032221.6(STXBP1):c.1726C>T (p.Gln576Ter)	rs2131561363
NM_001032221.6(STXBP1):c.1726del (p.Gln576fs)	rs796053393
NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys)	rs2132460743
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.294del (p.Lys98fs)	rs1588306826
NM_001032221.6(STXBP1):c.325+2_325+3del	rs1554776853
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	rs794727792
NM_001032221.6(STXBP1):c.388_389del (p.Leu130fs)	rs796053390
NM_001032221.6(STXBP1):c.400_401del (p.Asn134fs)	rs886044141
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032221.6(STXBP1):c.420T>A (p.Tyr140Ter)	rs1064796989
NM_001032221.6(STXBP1):c.430-1G>T	rs796053354
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)	rs2131462357
NM_001032221.6(STXBP1):c.512_513del (p.Arg171fs)	rs1841137524
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	rs1841141204
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	rs796053356
NM_001032221.6(STXBP1):c.578+1G>T	rs796053357
NM_001032221.6(STXBP1):c.578+1dup	rs796053382
NM_001032221.6(STXBP1):c.579-2A>G	rs112111568
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet)	rs1057519538
NM_001032221.6(STXBP1):c.586A>T (p.Lys196Ter)	rs1564351084
NM_001032221.6(STXBP1):c.616C>T (p.Gln206Ter)	rs2131469253
NM_001032221.6(STXBP1):c.634delinsCAACAATGATG (p.Tyr212delinsGlnGlnTer)	rs886042031
NM_001032221.6(STXBP1):c.662dup (p.Asp224fs)	rs886041917
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)	rs1554777470
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	rs794727970
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs)	rs1841286087
NM_001032221.6(STXBP1):c.709_715del (p.Phe237fs)	rs1064795999
NM_001032221.6(STXBP1):c.748C>T (p.Gln250Ter)	rs1064796720
NM_001032221.6(STXBP1):c.785del (p.Asp262fs)	rs1841291126
NM_001032221.6(STXBP1):c.794+1G>A	rs1554777496
NM_001032221.6(STXBP1):c.794+5G>A	rs1057520631
NM_001032221.6(STXBP1):c.82T>G (p.Trp28Gly)
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310
NM_001032221.6(STXBP1):c.84G>A (p.Trp28Ter)	rs1064793984
NM_001032221.6(STXBP1):c.87+1G>A	rs796053350
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)	rs796053361
NM_001032221.6(STXBP1):c.88-2A>C	rs796053351
NM_001032221.6(STXBP1):c.88-2A>G	rs796053351
NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)	rs1064794322
NM_001032221.6(STXBP1):c.897_898del (p.Ser300fs)	rs796053383
NM_001032221.6(STXBP1):c.902+1G>C	rs886041978
NM_001032221.6(STXBP1):c.904G>T (p.Glu302Ter)	rs796053362
NM_001032221.6(STXBP1):c.906_912del (p.Glu302fs)	rs1841465369
NM_001032221.6(STXBP1):c.963+1G>T	rs1085307465
NM_001032221.6(STXBP1):c.981_987delinsTCAGCACC (p.Ser328fs)	rs1588332693

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