SERPING1 variants identified by DNA sequencing or multiplex ligation-dependent probe amplification.

(a) The upstream breakpoint for the deletion is located less than 364kb from exon 1. Downstream breakpoint is probably located within intron 4. (b) The upstream breakpoint for the deletion is located less than 364kb from exon 1. Downstream breakpoint is unknown. ● Criteria for classification: Likely pathogenic: - nonsense mutations or out of frame indels. - missense mutations previously reported in two families. Pathogenic: - nonsense mutations or out of frame indels previously reported. - missense mutations previously reported in more than two families. SERPING1 variants identified by DNA sequencing or multiplex ligation-dependent probe amplification.