STX11

see figure with all variants

Genetic Variant^a	Protein Variant^b	Variant type	Biallelic^c	Monoallelic^d	Described >1 patient	Functional studies^e	Bibliography^f	ACMG Classification^g	ClinVar	ExAC	PolyPhen-2
c.9C>A	p.Asp3Glu	missense	-	Yes	-	-		Uncertain significance		3.3·10^-05	Probably damaging
c.49C>T	p.Gln17*	nonsense	Yes	-	-	Yes		-
c.73G>T	p.Glu25*	nonsense	Yes	-	Yes	Yes		Pathogenic
c.106G>C	p.Glu36Gln	missense	Yes	-	-	Yes		Uncertain significance		5.8·10^-05	Possibly damaging
c.110del	p.Thr37Argfs*26	frameshift	Yes	-	-	Yes	*	Pathogenic
c.121C>A	p.Leu41Met	missense	-	Yes	-	-	*	Likely benign		2.5·10^-05	Benign
c.145C>T	p.Arg49Trp	missense	-	Yes	-	Yes		Uncertain significance			Probably damaging
c.146G>A	p.Arg49Gln	missense	-	Yes	Yes	-		Benign	Benign / Likely benign	7.6·10^-03	Benign
c.173T>C	p.Leu58Pro	missense	Yes	-	Yes	Yes		Likely pathogenic	Pathogenic	1.7·10^-05	Probably damaging
c.221C>T	p.Thr74Met	missense	Yes	Yes	Yes	-		Uncertain significance		1.1·10^-03	Probably damaging
c.313C>A	p.Arg105Ser	missense	-	Yes	-	-	*	Likely benign			Benign
c.326A>G	p.Glu109Gly	missense	-	Yes	-	-	*	Likely benign			Benign
c.[369_370del;374_376del]	p.Val124Glyfs*60	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.369_370del	p.Val124Glyfs*61	frameshift	Yes	-	Yes	-	*	Pathogenic
c.404T>C	p.Leu135Pro	missense	Yes	-	-	-		Uncertain significance			Probably damaging
c.418del	p.Gln140Serfs*12	frameshift	Yes	-	-	-		Pathogenic
c.462_463delinsA	p.Asp155Thrfs*43	frameshift	-	-	-	-	*	Pathogenic
c.581_584del	p.Leu194Profs*3	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.601dup	p.Arg201Profs*154	frameshift	Yes	-	-	-	*	Pathogenic
c.616G>A	p.Glu206Lys	missense	Yes	-	-	Yes		Uncertain significance	Uncertain significance	1.1·10^-03	Probably damaging
c.627C>A	p.Ser209Arg	missense	-	Yes	-	-	*	Likely benign			Possibly damaging
c.646C>A	p.Arg216Ser	missense	-	Yes	-	-	*	Likely benign		1.7·10^-05	Benign
c.650T>A	p.Leu217Gln	missense	-	-	-	-		Uncertain significance		8.4·10^-06	Probably damaging
c.650T>C	p.Leu217Pro	missense	Yes	-	-	-		Uncertain significance			Probably damaging
c.675_679del	p.Glu226Leufs*127	frameshift	-	-	-	-	*	Likely pathogenic
c.687dup	p.Gln230Alafs*125	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.690G>A	p.Gln230=	silent	-	Yes	-	-	*	Uncertain significance
c.748C>T	p.Gln250*	nonsense	-	-	-	-		Pathogenic		8.4·10^-06
c.772C>T	p.Gln258*	nonsense	Yes	-	-	-		Pathogenic
c.784C>T	p.Gln262*	nonsense	-	-	-	-		Pathogenic
c.799G>A	p.Val267Met	missense	-	Yes	-	-	*	Benign	Benign / Likely benign	5.6·10^-03	Probably damaging
c.802C>T	p.Gln268*	nonsense	Yes	-	Yes	-		Pathogenic	Pathogenic
c.829A>G	p.Thr277Ala	missense	-	Yes	-	-		Benign	Benign / Likely benign	1.1·10^-02	Benign
c.842T>G	p.Phe281Cys	missense	-	-	-	-	*	Uncertain significance		4.3·10^-05	Benign
g.144140044_144191939del	Unknown	large rearrangement	Yes	-	-	Yes	*	Pathogenic
g.144176890_144196078del	Unknown	large rearrangement	Yes	-	-	-	*	Pathogenic

Genetic Variant^a	Protein Variant^b	Variant type	Biallelic^c	Monoallelic^d	Described >1 patient	Functional studies^e	Bibliography^f	ACMG Classification^g
c.9C>A	p.Asp3Glu	missense	-	Yes	-	-		Uncertain significance
c.49C>T	p.Gln17*	nonsense	Yes	-	-	Yes		-
c.73G>T	p.Glu25*	nonsense	Yes	-	Yes	Yes		Pathogenic
c.106G>C	p.Glu36Gln	missense	Yes	-	-	Yes		Uncertain significance
c.110del	p.Thr37Argfs*26	frameshift	Yes	-	-	Yes	*	Pathogenic
c.121C>A	p.Leu41Met	missense	-	Yes	-	-	*	Likely benign
c.145C>T	p.Arg49Trp	missense	-	Yes	-	Yes		Uncertain significance
c.146G>A	p.Arg49Gln	missense	-	Yes	Yes	-		Benign
c.173T>C	p.Leu58Pro	missense	Yes	-	Yes	Yes		Likely pathogenic
c.221C>T	p.Thr74Met	missense	Yes	Yes	Yes	-		Uncertain significance
c.313C>A	p.Arg105Ser	missense	-	Yes	-	-	*	Likely benign
c.326A>G	p.Glu109Gly	missense	-	Yes	-	-	*	Likely benign
c.[369_370del;374_376del]	p.Val124Glyfs*60	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.369_370del	p.Val124Glyfs*61	frameshift	Yes	-	Yes	-	*	Pathogenic
c.404T>C	p.Leu135Pro	missense	Yes	-	-	-		Uncertain significance
c.418del	p.Gln140Serfs*12	frameshift	Yes	-	-	-		Pathogenic
c.462_463delinsA	p.Asp155Thrfs*43	frameshift	-	-	-	-	*	Pathogenic
c.581_584del	p.Leu194Profs*3	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.601dup	p.Arg201Profs*154	frameshift	Yes	-	-	-	*	Pathogenic
c.616G>A	p.Glu206Lys	missense	Yes	-	-	Yes		Uncertain significance
c.627C>A	p.Ser209Arg	missense	-	Yes	-	-	*	Likely benign
c.646C>A	p.Arg216Ser	missense	-	Yes	-	-	*	Likely benign
c.650T>A	p.Leu217Gln	missense	-	-	-	-		Uncertain significance
c.650T>C	p.Leu217Pro	missense	Yes	-	-	-		Uncertain significance
c.675_679del	p.Glu226Leufs*127	frameshift	-	-	-	-	*	Likely pathogenic
c.687dup	p.Gln230Alafs*125	frameshift	Yes	-	Yes	Yes	*	Pathogenic
c.690G>A	p.Gln230=	silent	-	Yes	-	-	*	Uncertain significance
c.748C>T	p.Gln250*	nonsense	-	-	-	-		Pathogenic
c.772C>T	p.Gln258*	nonsense	Yes	-	-	-		Pathogenic
c.784C>T	p.Gln262*	nonsense	-	-	-	-		Pathogenic
c.799G>A	p.Val267Met	missense	-	Yes	-	-	*	Benign
c.802C>T	p.Gln268*	nonsense	Yes	-	Yes	-		Pathogenic
c.829A>G	p.Thr277Ala	missense	-	Yes	-	-		Benign
c.842T>G	p.Phe281Cys	missense	-	-	-	-	*	Uncertain significance
g.144140044_144191939del	Unknown	large rearrangement	Yes	-	-	Yes	*	Pathogenic
g.144176890_144196078del	Unknown	large rearrangement	Yes	-	-	-	*	Pathogenic

^aThe coding DNA reference sequence of genetic variants (c.) is the CDS of ENST00000367568.4, which is equivalent to that of NM_003764.4.
The genomic reference sequence of genetic variants (g.) is the GRCh38 chromosome 6 which is equivalent to NC_000006.12 ^bThe protein reference sequence used of protein variants (p.) is ENSP00000356540.4, which is equivalent to NP_003755.2.
^cBiallelic variants include both homozygous and compound heterozygous variants.
^dMonoallelic variants include variants found in one allele. Caution must be exercised in evaluating the role of monoallelic variants since FHL caused by mutations in STX11 is essentially an autosomal recessive disease. Most monoallelic variants reported in FHL are not proven to be disease causing by itself but may represent susceptibility in genetic predisposition to FHL.
^eFunctional studies mean that one or more assays (e.g. Western blot, RNA studies, flow cytometry, etc.) have been done to evaluate the functional impact of the variant.
^fBibliography marked with "*" may contain the variant in a different format. Here, we show the variant following the HGVS guidelines.
^gGenetic variants have been classified as pathogenic, likely pathogenic, uncertain significance, likely benign or benign, according to the American College of Medical Genetics (ACMG) guidelines.
- means no supporting information was found.

Disclaimer: The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.