aThe coding DNA reference sequence of genetic variants (c.) is the CDS of
ENST00000221283.10, which is equivalent to that of NM_006949.3.
bThe protein reference sequence used of protein variants (p.) is ENSP00000221283.4,
which is equivalent to NP_008880.2.
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 STXBP2 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.
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