Gene	Genetic Variant	Protein Variant	Variant type	Biallelic	Monoallelic	Described >1 patient	Functional studies	Bibliography
STX11	c.9C>A	p.Asp3Glu	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24916509
STX11	c.73G>T	p.Glu25*	nonsense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20486178
STX11	c.106G>C	p.Glu36Gln	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20486178
STX11	c.110del	p.Thr37Argfs*26	frameshift	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/17525286
STX11	c.145C>T	p.Arg49Trp	missense	-	Yes	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/25233452
STX11	c.146G>A	p.Arg49Gln	missense	-	Yes	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/25233452
STX11	c.173T>C	p.Leu58Pro	missense	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/24459464
STX11	c.221C>T	p.Thr74Met	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/24916509
STX11	c.[369_370del;374_376del]	p.Val124Glyfs*60	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/15703195
STX11	c.369_370del	p.Val124Glyfs*61	frameshift	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/19950846
STX11	c.581_584del	p.Leu194Profs*3	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/19967551
STX11	c.616G>A	p.Glu206Lys	missense	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/20486178
STX11	c.627C>A	p.Ser209Arg	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/29665027
STX11	c.646C>A	p.Arg216Ser	missense	-	Yes	-	-	https://www.ncbi.nlm.nih.gov/pubmed/29665027
STX11	c.650T>C	p.Leu217Pro	missense	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/26709266
STX11	c.675_679del	p.Glu226Leufs*127	frameshift	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/19484379
STX11	c.687dup	p.Gln230Alafs*125	frameshift	Yes	-	Yes	Yes	https://www.ncbi.nlm.nih.gov/pubmed/21298754
STX11	c.802C>T	p.Gln268*	nonsense	Yes	-	Yes	-	https://www.ncbi.nlm.nih.gov/pubmed/15703195, https://www.ncbi.nlm.nih.gov/pubmed/17525286
STX11	c.842T>G	p.Phe281Cys	missense	-	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/21600143
STX11	g.144140044_144191939del	Unknown	large rearrangement	Yes	-	-	Yes	https://www.ncbi.nlm.nih.gov/pubmed/28750028
STX11	g.144176890_144196078del	Unknown	large rearrangement	Yes	-	-	-	https://www.ncbi.nlm.nih.gov/pubmed/15703195