Table 2 List of pathogenic variants reported in RIPK4

1

c.121del

p. H41fs

not provided

Likely pathogenic

2

c.242 T > A

p. I81N

Bartsocas-Papas syndrome 1dup

Pathogenic

3

c.362 T > A

p. I121N

Bartsocas-Papas syndrome 1dup

Pathogenic

4

c.722G > A

p. R241H

Bartsocas-Papas syndrome 1dup

Likely pathogenic

5

c.777dup

p. R260fs

Bartsocas-Papas syndrome 1dup

Pathogenic

6

c.850G > A

p. E284K

Curly hair, ankyloblepharon, nail dysplasia syndrome

Pathogenic

7

c.1074dup

p. E359*

Bartsocas-Papas syndrome 1dup

Pathogenic

8

c.1127C > A

p. S376*

Bartsocas-Papas syndrome 1dup

Pathogenic