Gene	Genetic Variant	Protein Variant	Variant type	Biallelic	Monoallelic	Described >1 patient	Functional studies	Bibliography
STXBP2	c.37+5G>A	Unknown	splicing	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/20558610
STXBP2	c.38_87del	p.Lys13Serfs*24	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26684649
STXBP2	c.56T>C	p.Ile19Thr	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26684649
STXBP2	c.87+2T>C	Unknown	splicing	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424
STXBP2	c.88-1G>A	Unknown	splicing	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21152410
STXBP2	c.116G>C	p.Arg39Pro	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/20558610
STXBP2	c.184A>G	p.Asn62Asp	missense	Yes	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/26451869, https://www.ncbi.nlm.nih.gov/pubmed/27781387
STXBP2	c.193C>T	p.Arg65Trp	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25564401
STXBP2	c.194G>A	p.Arg65Gln	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/24194549, https://www.ncbi.nlm.nih.gov/pubmed/25564401
STXBP2	c.224_227del	p.Tyr75Cysfs*2	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/20558610
STXBP2	c.260del	p.Leu87Argfs*32	frameshift	-	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.279del	p.Thr94Profs*25	frameshift	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424
STXBP2	c.301_303del	p.Ala101del	in-frame deletion	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21152410
STXBP2	c.310A>T	p.Ile104Phe	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424, https://www.ncbi.nlm.nih.gov/pubmed/24194549
STXBP2	c.326-23_326-16del	Unknown	splicing	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/23382066
STXBP2	c.389T>C	p.Leu130Ser	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/22791290
STXBP2	c.395A>C	p.Glu132Ala	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20798128, https://www.ncbi.nlm.nih.gov/pubmed/24194549
STXBP2	c.416C>G	p.Pro139Arg	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/24194549, https://www.ncbi.nlm.nih.gov/pubmed/22970278
STXBP2	c.474_483delinsGA	p.Cys158Trpfs*78	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/22336081, https://www.ncbi.nlm.nih.gov/pubmed/24194549, https://www.ncbi.nlm.nih.gov/pubmed/22791290
STXBP2	c.497C>T	p.Thr166Met	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/31388699
STXBP2	c.502dup	p.Gln168Profs*71	frameshift	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424
STXBP2	c.568C>T	p.Arg190Cys	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24916509
STXBP2	c.575G>A	p.Arg192His	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/27781387
STXBP2	c.577A>C	Unknown	splicing	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/26451869
STXBP2	c.626T>C	p.Leu209Pro	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.693_695del	p.Ile232del	in-frame deletion	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.704G>T	p.Arg235Leu	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/27781387
STXBP2	c.704G>C	p.Arg235Pro	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26684649
STXBP2	c.706del	p.Ala236Glnfs*24	frameshift	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.715C>T	p.Pro239Ser	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24916509
STXBP2	c.767T>C	p.Leu256Pro	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/27781387
STXBP2	c.769_771del	p.Leu257del	in-frame deletion	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/20558610
STXBP2	c.781C>T	p.Gln261*	nonsense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/28936583
STXBP2	c.795-4C>T	Unknown	splicing	Yes	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/21881043, https://www.ncbi.nlm.nih.gov/pubmed/25047945
STXBP2	c.875G>A	p.Arg292His	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.902+6T>G	Unknown	splicing	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/23382066
STXBP2	c.902+5G>A	Unknown	splicing	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/20558610
STXBP2	c.911C>T	p.Thr304Met	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24916509
STXBP2	c.971A>G	p.Lys324Arg	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/25901543
STXBP2	c.1001C>T	p.Pro334Leu	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/22336081, https://www.ncbi.nlm.nih.gov/pubmed/24194549
STXBP2	c.1034C>T	p.Thr345Met	missense	Yes	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/22791290
STXBP2	c.1066_1074del	p.His356_Lys358del	in-frame deletion	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/20558610
STXBP2	c.1103_1107+4del	Unknown	splicing	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/23382066
STXBP2	c.1172del	p.Pro391Argfs*27	frameshift	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24139496
STXBP2	c.1213C>T	p.Arg405Trp	missense	-	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.1213C>G	p.Arg405Gly	missense	Yes	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/28353193
STXBP2	c.1214G>A	p.Arg405Gln	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.1247-1G>C	Unknown	splicing	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19804848, https://www.ncbi.nlm.nih.gov/pubmed/25491289
STXBP2	c.1252_1255del	p.Ser418Argfs*7	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21152410
STXBP2	c.1294C>T	p.Gln432*	nonsense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20558610, https://www.ncbi.nlm.nih.gov/pubmed/23100279
STXBP2	c.1298C>T	p.Ala433Val	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22791290
STXBP2	c.1356+1G>A	Unknown	splicing	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/20823128
STXBP2	c.1430C>T	p.Pro477Leu	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19804848
STXBP2	c.1444G>A	p.Val482Ile	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26451869
STXBP2	c.1452+1G>A	Unknown	splicing	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/27848944
STXBP2	c.1459G>A	p.Val487Met	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24916509
STXBP2	c.1586G>C	p.Arg529Pro	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24916509
STXBP2	c.1601T>C	p.Leu534Pro	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424
STXBP2	c.1621G>A	p.Gly541Ser	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20798128, https://www.ncbi.nlm.nih.gov/pubmed/26320718
STXBP2	c.1634C>T	p.Ser545Leu	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20558610, https://www.ncbi.nlm.nih.gov/pubmed/23100279
STXBP2	c.1663A>G	p.Arg555Gly	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/28353193
STXBP2	c.1696+1G>A	Unknown	splicing	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424
STXBP2	c.1697G>A	p.Gly566Asp	missense	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/22796692, https://www.ncbi.nlm.nih.gov/pubmed/22451424
STXBP2	c.1718C>T	p.Pro573Leu	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24194549
STXBP2	c.1724_1729del	p.Arg575_Phe576del	in-frame deletion	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424
STXBP2	c.1726T>C	p.Phe576Leu	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/21600143
STXBP2	c.1727del	p.Phe576Serfs*5	frameshift	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/22451424