So far, all reported variants are heterozygous de novo variants:
QRICH1 NM_017730.3:c.1812_1813delTG; p.(Glu605Glyfs*25)
QRICH1 NM_017730.3:c.2207G>A; p.(Ser736Asn).
QRICH1 NM_017730.3:c.832_833del; p.(Ser278Leufs*25))
QRICH1 NM_017730.3:c.1954C>T; p.(Arg652*))
QRICH1 c.1953dup;p.Arg652Alafs
QRICH1 c.138-139delinsTT;p.(Gln46_Gln47delinsHis*)
QRICH1 c.1606C>T;p.(R536X)
QRICH1 c.1531C>T;p.(Arg511X)
QRICH1