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

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

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
B200595a     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
  1. Other MYH9-RD characteristics sought were the presence of Döhle inclusions, cataract, deafness or renal pathology.
  2. aFather of B200594.