Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Table 3 Rare variants identified in MYH9 and validated by Sanger sequencing

Case	Transcript variant ENST00000216181	Protein variant ENSP00000216181	HGMD variant	Classification	PLT, ×10 ⁹ /L	MPV, fL and/or presence of macrothrombocytes	Other *MYH9* -RD characteristics
B200760	22:36744995 G/A	S96L	Yes	PV	180	Macrothrombocytes	None
B200771	22:36705438 C/A	D578Y	No	VUS	184	10.1	None
B200423	22:36696237 G/A	A971V	No	VUS	262	10.2	None
B200024	22:36691696 A/G	S1114P	Yes	VUS	164	NA	None
B200245				VUS	53	11.1, Macrothrombocytes	None
B200243	22:36691115 G/A	R1165C	Yes	PV	22	Macrothrombocytes	None
B200594				PV	46	Macrothrombocytes	None
B200595^a				PV	61	Macrothrombocytes	None
B200614	22:36688151 C/T	D1409N	No	VUS	319	9.8	None
B200752				VUS	149	10.1, Macrothrombocytes	None
B200855				VUS	95	16.8, Macrothrombocytes	None
B200208	22:36688106 C/T	D1424N	Yes	PV	99	13.6	None
B200010	22:36685249 G/C	S1480W	No	VUS	244	NA	None
B200244	22:36678800 G/A	R1933X	Yes	PV	26	Macrothrombocytes	Döhle inclusions

Other MYH9-RD characteristics sought were the presence of Döhle inclusions, cataract, deafness or renal pathology.
^aFather of B200594.

ISSN: 1756-994X