Table 1.

Characteristics and bleeding symptoms of the pathogenic RASGRP2 variants reported to date.

Genomic Variation	Variant Type	Protein Effect	Sex	Platelet Expression	Age at Diagnosis	Age at Presentation	Bleeding Symptoms						Ref
							E	SC	M	DE	S	GI
c.742G>T	Missense	p.Gly248Trp	F	Yes	55	1 year							[58]
			H	Yes	53	1 year
			H	Yes	49	1 year
c.337C>T	Stop codon	p.Arg113*	F	No	55	Lifelong							[59]
			M	No	46	Childhood
c.1142C>T	Missense	p.Ser381Phe	M	No	9	lifelong							[59]
c.1142C>T c.659G>A	Missense Missense	p.Ser381Phe p.Arg220Glu	F	N/D	41	Early childhood							[90]
c.925A>T c.1081_1083delCTG	Stop codon Deletion	p.Lys309* p.Leu360del	F	No	16	Before 3 years							[89]
c.706C>T	Stop codon	p.Gln236*	M	No	8	1 year							[60]
c.887G>A	Missense	p.Cys296Tyr	F	No	4	First year							[60]
c.914G>A	Missense	p.Gly305Asp	M	No	9	Early childhood							[89,91]
			M	Yes (Residual)	24	2 years
c.199delAA	Frameshift	p.Asn67Leufs*24	F	No	23	1 year							[91]
c.372-3C>G	Splice variant	p.(Pro125*)	F	N/D	24	2 years							[91]
c.990C>G	Missense	p.Asn330Lys	F	N/D	21	5 years							[91]
c.778G>T c.886T>C	Stop codon Missense	p.Glu260* p.Cys296Arg	F	No	20	1 year							[91]
c.1482InsG	Frameshift	p.Arg494Alafs*54	M	N/D	60	5 years							[91]
c.1482InsG c. 542T>C	Frameshift Missense	p.Arg494Alafs*54 p.Phe181Ser	M	N/D	13	1 year							[91]
c.1490delT	Frameshift	p.Phe497Serfs*22	M	Yes (Lower MW)	45	5 years							[84,91]
			F	Yes (Lower MW)	55	During the first year
c.1490delT c.1033G>C	Frameshift Missense	p.Phe497Serfs*22 p.Ala345Pro	M	N/D	57	5 years							[91]
c.1490delT c.866A>G	Frameshift Missense	p.Phe497Serfs*22 p.Tyr289Cys	M	N/D	61	4 years							[91]
c.74-1G>C	Splice variant	p.(Asp25Ala*15)	M	N/D	9	3 years							[92]
c.337delC	Deletion	p.Arg113Aspfs*6	M	N/D	9	During the first year							[93]
c.742G>C	Missense	p.Gly248Arg	F	N/D	15	Early childhood							[94]
Newly identified variant
c.1507G>T	Stop codon	p.Glu503*	M	N/D	14	Early childhood
						% of patients	96	84	73	40	40	16

Blue background corresponds to RASGRP2 composite heterozygous variants; pink background corresponds to a RASGRP2 variant associated to a P2RY12 heterozygous variant; yellow background corresponds to a RASGRP2 variant associated to a FERMT3 homozygous variant. E = Epistaxis, SC = Subcutaneous hemorrhage, M = Menorrhagia, DE = Prolonged bleeding after dental extraction, S = Prolonged bleeding after surgery and GI = Gastrointestinal hemorrhage.