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. Author manuscript; available in PMC: 2018 Nov 13.
Published in final edited form as: Hum Mutat. 2013 Dec 12;35(2):236–247. doi: 10.1002/humu.22476

Table 6. Summary of the risk of occurrence of extra-hematological manifestations of MYH9-RD according to seven MYH9 genotypes.

Nephropathy Deafness Cataracts
SH3/MD interface substitutions Low risk Before age 60 years in all patients Low risk
R702 substitutions Before age 40 years in all patients Progression to ESRD in all patients Before age 40 years in all patients Low risk
R1165 substitutions Low risk Before age 60 years in all patients Low risk
p.D1424H High risk Progression to ESRD in a minority of patients Before age 60 years in all patients Probably higher risk
p.D1424N Very low risk Low risk Low risk
p.E1841K Low risk Low risk Low risk
NHT deletions Very low risk Low risk Very low risk
HHS Vulnerability Disclosure