Table 1 Mutations of FRMD7 in 56 pedigrees and 34 sporadic patients with infantile nystagmus.

1

F1

M

7

Intron 1

c.57 + 1G > A

Splicing

PMID: 28656292

0.4/0.6

Pathogenic

PVS1, PS4, PM2

–

24

–

DL(0.96)

2

S1

M

6

Intron 1

c.57 + 2 T > C

Splicing

None

0.5/0.5

Likely pathogenic

PVS1, PM2

–

23.4

–

DL(0.92)

3

F2

M

9

Intron 1

c.58-3 T > A

Splicing

None

0.6/0.7

Uncertain

PM2

–

–

–

AL(0.78)

4

F3

M

5

Exon 1

Exon1

Deletion

None

0.6/0.6

Likely pathogenic

PVS1, PM2

–

–

–

5

F4

M

4

Exon 2

c.70G > T

p.G24W

Missense

PMID: 18431453

0.4/0.5

Pathogenic

PS4, PM1, PM2, PM5, PP3

0

33

1

6

F5

F

6

Exon 2

c.70G > A

p.G24R

Missense

PMID: 17013395

0.6/0.6

Pathogenic

PS4, PM1, PM2, PM5, PP3

0

29.6

1

7

F6

F

17

Intron 3

c.162 + 2 T > C

Splicing

PMID: 28623544

0.4/0.5

Pathogenic

PVS1, PS4, PM2

–

24.5

–

DL(0.97)

8

F7

M

8

Exon 3

c.170 T > G

p.L57R

Missense

None

0.6/0.6

Uncertain

PM2, PP3

0

25.3

0.999

9

F8

M

7

Exon 3

c.170 T > G

p.L57R

Missense

None

0.9/0.8

Uncertain

PM2, PP3

0

25.3

0.999

10

F9

M

7

Intron 4

c.206-1G > A

Splicing

PMID: 28623544

0.4/0.4

Pathogenic

PVS1, PS4, PM2

–

25.3

–

AG(0.53) AL(0.75)

11

F10

M

6

Intron 4

c.206-2 T > G

Splicing

None

0.5/0.4

Likely pathogenic

PVS1, PM2

–

24.1

–

AG(1.00) AL(0.75)

12

F11

M

9

Exon 4

c.253G > T

p.D85Y

Missense

None

0.5/0.5

Uncertain

PM2, PP3

0.01

29.2

0.992

13

F12

F

3

Exon 4

c.284G > T

p.R95M

Missense

PMID: 28623544

NA

Likely pathogenic

PS4, PM2, PP3

0

28.6

0.987

14

F13

M

3

Exon 5

c.367 T > C

p.S123P

Missense

None

0.4/0.4

Uncertain

PM2, PP3

0.001

29

0.997

15

F14

M

6

Intron 6

c.498-2A > T

Splicing

None

0.5/0.4

Likely pathogenic

PVS1, PM2

–

25.9

–

AG(0.95) AL(0.97)

16

F15

F

8

Exon 7

c.521A > T

p.D174V

Missense

PMID: 28623544

0.5/0.5

Likely pathogenic

PS4, PM2, PP3

0

27.8

0.967

17

S2

M

9

Exon 7

c.580G > A

p.A194T

Missense

PMID: 32446246

0.8/0.7

Uncertain

PM1, PM5, PP3

0.004

34

0.998

18

F16

F

6

Exon 7

c.586G > T

p.D196Y

Missense

None

0.6/0.4

Uncertain

PM2, PM5, PP3

0

30

0.999

19

F17

F

13

Exon 7

c.601C > T

p.Q201X

Nonsense

PMID: 17013395

0.7/0.7

Pathogenic

PVS1, PS4, PM2

–

37

–

20

F18

M

8

Exon 7

c.616G > A

p.V206I

Missense

None

0.5/0.6

Uncertain

PM2

0.005

29.2

0.994

21

F19

F

11

Exon 7

c.623A > G

p.H208R

Missense

PMID: 21365021

0.8/0.8

Likely pathogenic

PS4, PM2, PP3

0.001

24.7

0.994

22

F20

M

7

Exon 7

c.623A > G

p.H208R

Missense

PMID: 21365021

0.4/0.3

Likely pathogenic

PS4, PM2, PP3

0.001

24.7

0.994

23

F21

M

9

Exon 7

c.628G > C

p.G210R

Missense

None

0.5/0.6

Uncertain

PM2, PP3

0

33

1

24

F22

M

9

Intron 7

c.645 + 1delinsAT

Splicing

None

0.4/0.4

Uncertain

PM2

–

–

–

DL(0.98)

25

F23

F

5

Exon 8

c.685C > T

p.R229C

Missense

PMID: 17768376

0.5/0.5

Pathogenic

PS4, PM1, PM2, PM5, PP3

0.001

34

0.999

26

S3

F

2

Exon 8

c.686G > A

p.R229H

Missense

None

NA

Likely pathogenic

PM1, PM2, PM5, PP3

0.001

35

0.999

27

F24

M

9

Exon 8

c.689-690delAG

p.S232Ffs*2

Deletion

PMID: 18431453

0.7/0.7

Likely pathogenic

PVS1, PM2

–

–

–

28

F25

M

12

Exon 8

c.694_695delAG

p.S232FfsX233

Deletion

PMID: 18431453

0.9/0.9

Pathogenic

PVS1, PS4, PM2

–

–

–

29

F26

M

7

Exon 9

c.773 T > C

p.M258T

Missense

None

0.5/0.4

Likely pathogenic

PM1, PM2, PM5, PP3

0

26.2

0.974

30

F27

M

9

Exon 9

c.773 T > C

p.M258T

Missense

None

0.7/0.7

Likely pathogenic

PM1, PM2, PM5, PP3

0

26.2

0.974

31

F28

M

8

Exon 9

c.766 T > A

p.F256I

Missense

PMID: 28623544

0.4/0.4

Likely pathogenic

PS4, PM2, PP3

0

29.4

0.996

32

S4

M

4

Exon 9

c.781C > T

p.R261X

Nonsense

None

0.5/0.6

Likely pathogenic

PVS1, PM2

–

38

–

33

F29

F

7

Exon 9

c.782G > A

p.R261Q

Missense

PMID: 18431453

0.7/0.7

Pathogenic

PS4, PM1, PM2, PM5, PP3

0.002

34

0.996

34

F30

M

5

Exon 9

c.782G > A

p.R261Q

Missense

PMID: 18431453

0.5/0.5

Pathogenic

PS4, PM1, PM2, PM5, PP3

0.002

34

0.996

35

F31

M

9

Exon 9

c.811 T > C

p.C271R

Missense

PMID: 28623544

0.6/0.5

Pathogenic

PS4, PM1, PM2, PM5, PP3

0

26.7

0.998

36

F32

F

7

Exon 9

c.812G > T

p.C271F

Missense

PMID: 18431453

1.0/1.0

Pathogenic

PS4, PM1, PM2, PM5, PP3

0

33

0.997

37

F33

M

8

Exon 9

c.837G > C

p.R279S

Missense

PMID: 18685727

0.8/0.7

Likely pathogenic

PS4, PM2, PP3

0

25.1

0.996

38

F34

M

6

Exon 9

c.849G > C

p.E283D

Missense

None

0.5/0.6

Uncertain

PM2

0.017

26.2

0.99

39

F35

F

8

Exon 9

c.887G > C

p.G296R

Missense

None

0.4/0.4

Uncertain

PM2, PM5, PP3

0.002

28.2

0.999

40

F36

F

11

Exon 9

c.887G > C

p.G296R

Missense

None

0.7/0.6

Uncertain

PM2, PM5, PP3

0.002

28.2

0.999

41

F37

M

9

Exon 9

c.887G > C

p.G296R

Missense

None

0.5/0.5

Uncertain

PM2, PM5, PP3

0.002

28.2

0.999

42

F38

M

5

Exon 9

c.887G > A

p.G296D

Missense

None

0.5/0.7

Uncertain

PM2, PM5, PP3

0

32

1

43

S5

F

4

Exon 9

c.887G > T

p.G296V

Missense

None

0.6/0.6

Uncertain

PM2, PM5, PP3

0

33

1

44

F39

M

7

Exon 10

c.910C > T

p.R304X

Nonsense

PMID: 18431453

0.4/0.6

Pathogenic

PVS1, PS4, PM2

–

37

–

45

F40

M

3

Exon 10

c.922C > A

p.Q308K

Missense

None

NA

Uncertain

PM2, PP3

0.002

28.5

0.991

46

F41

M

9

Exon 10

c.973A > G

p.R325G

Missense

PMID: 28623544

0.4/0.5

Uncertain

PM2, PM5, PP3

0

24

0.359

47

F42

F

2

Exon 10

c.974G > A

p.R325K

Missense

None

NA

Uncertain

PM2, PM5

0.089

25.1

0.269

48

S6

M

20

Intron 10

c.974 + 2 T > C

Splicing

None

0.4/0.4

Likely pathogenic

PVS1, PM2

–

24.5

–

DL(0.77)

49

F43

M

5

Exon 11

c.980_987delATTACCCAinsCCAA

p.H327Pfs *27

Deletion

PMID: 23733424

0.4/0.4

Pathogenic

PVS1, PS4, PM2

–

–

–

50

F44

M

6

Exon 11

c.986C > A

p.P329Q

Missense

PMID: 23733424

0.6/0.7

Likely pathogenic

PS4, PM2, BP4

0.37

23.9

0.037

51

F45

M

7

Exon 11

c.999delT

p.H333fs*22

Deletion

PMID: 28623544

0.5/0.5

Pathogenic

PVS1, PS4, PM2

–

–

–

52

F46

F

6

Exon 11

c.1003C > T

p.R335X

Nonsense

PMID: 17013395

0.7/0.7

Pathogenic

PVS1, PS4

–

39

–

53

F47

M

3

Exon12

c.1074T > G

p.Y358X

Nonsense

None

NA

Likely pathogenic

PVS1, PM2

–

36

–

54

F48

F

10

Exon12

c.1241delT

p.F414Sfs*30

Deletion

None

0.8/0.8

Likely pathogenic

PVS1, PM2

–

–

–

55

F49

M

5

Exon12

c.1442_1443insAT

p.P482Ffs*43

Insertion

None

0.5/0.6

Likely pathogenic

PVS1, PM2

–

–

–

56

F50

M

6

Exon12

c.1523G > A

p.W508X

Nonsense

None

0.8/0.8

Likely pathogenic

PVS1, PM2

–

33

–

57

F51

F

8

Exon12

c.1860_1861delAG

p.D621Pfs*27

Deletion

None

0.4/0.6

Likely pathogenic

PVS1, PM2

–

–

–

58

F52

M

7

Exon12

c.1918delA

p.S640fs

Deletion

None

0.6/0.7

Likely pathogenic

PVS1, PM2

–

–

–