Table 2.

Incidence of congenital cardiovascular and skeletal malformations in individuals with Holt–Oram syndrome causing TBX5 mutations

Class of mutation	Amino acid residues	Families	No. of Individuals	All cardiac malform.	All skeletal malform.	Composite cardiac malform.	Severe skeletal malform.
Truncation		E, F, IIa, IIb, IId, IIj, II1, IIq	26	21	26	16	18
Missense	80	A	19	19	19	4	0
Missense	237	B, IIg, V	26	14	26	1	9

Malform., malformations.