aThe coding DNA reference sequence of genetic variants (c.) is the CDS of
ENST00000207549.8, which is equivalent to that of NM_199242.2.
The genomic reference sequence of genetic variants (g.) is the GRCh37
chromosome 17 which is equivalent to NC_000017.10
bThe protein reference sequence used of protein variants (p.) is ENSP00000207549.3,
which is equivalent to NP_954712.1.
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 UNC13D 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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