List of variants in gene STXBP1 reported as pathogenic for Developmental and epileptic encephalopathy, 4

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: 101

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HGVS	dbSNP	gnomAD frequency
NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)	rs1057519501
NM_001032221.6(STXBP1):c.1018G>T (p.Glu340Ter)	rs2538552971
NM_001032221.6(STXBP1):c.1029+1G>A	rs727504173
NM_001032221.6(STXBP1):c.1029+1G>C	rs727504173
NM_001032221.6(STXBP1):c.1029+1G>T	rs727504173
NM_001032221.6(STXBP1):c.1030-2A>G	rs2538558406
NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs)	rs1841611480
NM_001032221.6(STXBP1):c.103C>T (p.Gln35Ter)
NM_001032221.6(STXBP1):c.103_119del (p.Gln35fs)	rs2539777975
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg)	rs886041337
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.1108C>T (p.Gln370Ter)	rs2131501460
NM_001032221.6(STXBP1):c.1110+2T>G	rs2538559195
NM_001032221.6(STXBP1):c.1111-2A>G	rs1554778417
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	rs121918321
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.1227_1229del (p.Leu410del)	rs2131510168
NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg)	rs2132444527
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer)	rs1588339898
NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg)	rs2131510237
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter)	rs1588341629
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg)	rs121918319
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)	rs1219725395
NM_001032221.6(STXBP1):c.1359+1G>A	rs796053370
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs)	rs1554778657
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs)	rs1554778657
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter)	rs1564355614
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.1454T>C (p.Ile485Thr)	rs1564355642
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)	rs2132444703
NM_001032221.6(STXBP1):c.1461+1G>T	rs2538589846
NM_001032221.6(STXBP1):c.1462-2A>C	rs2131528253
NM_001032221.6(STXBP1):c.1481_1487del (p.Leu494fs)	rs2538599540
NM_001032221.6(STXBP1):c.1492dup (p.His498fs)	rs1564356269
NM_001032221.6(STXBP1):c.1495_1496dup (p.Pro500fs)	rs2538599791
NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter)	rs1564357089
NM_001032221.6(STXBP1):c.1557T>G (p.Tyr519Ter)
NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter)	rs1842039791
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter)	rs756998073
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)	rs1842044505
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)	rs121918317
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)	rs121918317
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)	rs796053374
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)	rs942940725
NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs)	rs2131536257
NM_001032221.6(STXBP1):c.169+1G>A	rs587776641
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.236C>T (p.Pro79Leu)	rs1588302912
NM_001032221.6(STXBP1):c.236del (p.Pro79fs)
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)	rs1461664423
NM_001032221.6(STXBP1):c.246+2_325+14del
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)	rs121918320
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His)	rs1840970680
NM_001032221.6(STXBP1):c.325+1G>A	rs2539799194
NM_001032221.6(STXBP1):c.325+2_325+3del	rs1554776853
NM_001032221.6(STXBP1):c.325+5G>A	rs2539799215
NM_001032221.6(STXBP1):c.326-1G>T	rs1554776948
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	rs794727792
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs)	rs1841026473
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)	rs2539802611
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032221.6(STXBP1):c.430-1G>A	rs796053354
NM_001032221.6(STXBP1):c.478del (p.His160fs)
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr)	rs121918318
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	rs1841141204
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)	rs796053355
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	rs796053356
NM_001032221.6(STXBP1):c.578+1G>A	rs796053357
NM_001032221.6(STXBP1):c.579-1G>A	rs1588317190
NM_001032221.6(STXBP1):c.579-1G>C	rs1588317190
NM_001032221.6(STXBP1):c.614_615del (p.Ile205fs)	rs2539816286
NM_001032221.6(STXBP1):c.663+1G>A	rs1841240415
NM_001032221.6(STXBP1):c.663+1G>C	rs1841240415
NM_001032221.6(STXBP1):c.692dup (p.Ile232fs)	rs1564351388
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)	rs796053359
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.733C>A (p.His245Asn)	rs1554777480
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs)	rs587784454
NM_001032221.6(STXBP1):c.794+1G>A	rs1554777496
NM_001032221.6(STXBP1):c.795-1G>A	rs1554777708
NM_001032221.6(STXBP1):c.795-2A>C	rs2131481227
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter)	rs1564346538
NM_001032221.6(STXBP1):c.830_831delinsC (p.Lys277fs)	rs2539827928
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro)	rs2131481488
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310
NM_001032221.6(STXBP1):c.87+2T>C	rs1554775960
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.898del (p.Ser300fs)	rs2131481907
NM_001032221.6(STXBP1):c.902+1G>A	rs886041978
NM_001032221.6(STXBP1):c.963+2T>C	rs2539835265
NM_003165.6(STXBP1):c.664-1delG	rs2131472407

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