Table 2.

Summary of two disorders with promising candidate variants.

Famlily	Initial Diagnosis	Candidate Gene	Chr.	Position (−)	Position (+)	Ref./Mut.	Mutation Type	Inheritance Mode
7	Mitochondrial Disease	BCKDHA	19	41928938	41928938	C/T	missense	de novo
		IGF2, INS-IGF2	11	2170355	2170355	C/T	splicing	imprinted (paternally expressed)
25	Klippel-Trenaunay-Weber Syndrome	FBN3	19	8188820	8188820	C/T	missense	AR

Note: Ref. = reference allele; Mut. = mutation allele; AR = autosomal recessive.