Table I.

Novel genomic variants reported in genes recently discovered in patients with an inherited bleeding disorder following next-generation sequencing. Gene and phenotypes associated with variants are shown. Heterozygous nucleotide changes (unless indicated) present in patients with inherited bleeding and their predicted effects on the resulting RNA or protein are also shown. Genomic variations are numbered according to positions in the publication of the reference indicated. dbSNP ID is given for each variant if known or is a novel variant not reported in the available databases.

Gene Associated phenotypes	Genomic variation	Protein effect	Variation type	dbSNP ID	Reference
NBEAL2	c.256 A>G	p.Ile86Val	Missense	rs754407148	[37]
Thrombocytopenia, large platelets, lack of α-granules.	c.1163T>C	p.Leu388Pro	Missense	rs387907113	[37]
	c.1928 A>T	p.Glu643Val	Missense	rs387907114	[37]
	c.2044 >T	p.Ile682Phe	Missense	rs773164015	[37]
	c.6299 C>T	p.Pro2100Leu	Missense	rs387907115	[37]
	c.6802-2 A>AGGAGT		Splice site		[37]
	c.6806 C>T	p.Ser2269Leu	Missense	rs749896920	[12]
	c.7658 G>A	p.Gly2553Glu	Missense	rs144664865	[37]
ACTN1	c.64 G>A	p.Asp22Asn	Missense	rs387907346	[41]
Thrombocytopenia, large platelets	c.94 C>A	p.Gln32Lys	Missense	rs747559032	[40]
.	c.136 C>T	p.Arg46Trp	Missense	rs387907348	[41]
	c.137 G>A	p.Arg46Gln	Missense	rs387907345	[40,41]
	c.313 G>A	p.Val105Ile	Missense	rs387907350	[40]
	c.673 G>A	p.Glu225Lys	Missense		[40,41]
	c.751 G>C	p.Gly251Arg	Missense		[41]
	c.2210 C>A	p.Thr737Asn	Missense	rs387907349	[41]
	c.2212 C>T	p.Arg738Trp	Missense	rs387907347	[40,41]
	c.2255 G>A	p.Arg752Gln	Missense		[40,41]
	c.2289 G>A	p.Gly764Ser	Missense		[41]
	c.2305 G>A	p.Glu769Lys	Missense		[41]
SRC	c.1579 G>A	p.Glu527Lys	Missense		[42]
Thrombocytopenia, sometimes large platelets, lack of α-granules.
SLFN14	c.652 A>G	p.Lys218Glu	Missense		[45]
Thrombocytopenia, reduced δ-granules.	c.657 T>A	p.Lys219Asn	Missense		[45]
	c.659 T>A	p.Val220Asp	Missense		[45]
	c.667 C>T	p.Arg223Trp	Missense	rs766076920	[7]
ETV6	c.641 C>T	p.Pro214Leu	Missense	rs724159947	[49]
Thrombocytopenia, hematologic malignancy.	c.1106 G>A	p.Arg369Gln	Missense	rs724159946	[49]
	c.1195 C>T	p.Arg399Cys	Missense	rs724159945	[49]
FYB	c.393 G>AHom	p.Trp131StopHom	Nonsense		[51]
Thrombocytopenia, small platelets.
PRKACG	c.222 C>GHom	p.Ile74MetHom	Missense	rs724159972	[52]
Thrombocytopenia, giant platelets.
RBM8A	c.-21 G>A		Regulatory SNP	rs139428292	[53]
Thrombocytopenia, absence of radius bones.	c.67+32G>C		Regulatory SNP	rs201779890	[53]