Table 1 Pathogenic variants identified following routine diagnostic testing

1

AHI1

NM_001134830.1

c.1983del (p.Trp662Glyfs*24)

No mutation detected

2

AHI1

NM_001134830.1

c.2495del (p.Leu832*)

c.2495del (p.Leu832*)

[24, 25]

3

CC2D2A

NM_001080522.2

c.2803C > T (p.Arg935*)

c.3774dup (p.Glu1259*)

4

CC2D2A

NM_001080522.2

c.2875del (p.Glu959Asnfs*3)

c.2875del (p.Glu959Asnfs*3)

5

CEP290

NM_025114.3

c.1975A > T (p.Lys659*)

c.5668G > T (p.Gly1890*)

[26–28]

6

MKS1

NM_017777.3

c.262-2A > G (p.?)

No mutation detected

7

TCTN2

NM_024809.4

c.1506-2A > G (p.?)

No mutation detected

[29]

8

TCTN2

NM_024809.4

c.1506-2A > G (p.?)

c.1506-2A > G (p.?)

[29]

9

TCTN2

NM_024809.4

c.1506-2A > G (p.?)

c.1506-2A > G (p.?)

[29]

10

TCTN2

NM_024809.4

c.1506-2A > G (p.?)

c.1506-2A > G (p.?)

[29]

11

TMEM67

NM_153704.5

c.415_416del (p.Asp139Hisfs*2)

c.415_416del (p.Asp139Hisfs*2)

12

TMEM67

NM_153704.5

c.514C > T (p.Arg172*)

c.622A > T (p.Arg208*)

[30, 31]

13

TMEM67

NM_153704.5

c.579_580del (p.Gly195Ilefs*13)

c.579_580del (p.Gly195Ilefs*13)

[32]

14

TMEM67

NM_153704.5

c.1319G > A (p.Arg440Gln)

c.1319G > A (p.Arg440Gln)

[31–34]

15

TMEM67

NM_153704.5

c.1960 + 1G > A (p.?)

c.1046 T > C (p.Leu349Ser)

[32, 33, 35]

16

TMEM237

NM_001044385.2

c.709del (p.Ala237Leufs*10)

No mutation detected