Table 1 Table indicating demographics, variant details with American College of Medical Genetics and Genomics classifications predicted by Franklin/Varsome, allele frequencies, and variants found in other genes flagged as potentially causative of the clinical condition in each cohort member

1

M,

6–10

p.R698W

p.N1017S

VUS

VUS

2.78 × 10⁻⁵

1.59 × 10⁻⁵

CNOT3 (VUS)

2

F,

6–10

c.1453A>G/p.K485E

c.2129G>A/p.R710H

LB/VUS

LB/VUS

7.08 × 10⁻⁴

5.17 × 10⁻⁵

-

3

M,

16–20

c.611_612insG/p.K205X

LP

N/A

-

4³

F,

6–10

c.1622A>G/p.D541G

VUS

N/A

-

5³

F,

deceased 6–10

c.3811del/p.Q1271Rfs*67

VUS/P

N/A

-

7

F,

11–15

c.1363T>C/p.S455P

c.3733G>A/p.A1245T

VUS

LB/VUS

N/A

7.96 × 10⁻⁶

PEX1 (P)

8

M,

11–15

c.1453A>G/p.K485E

c.3475C>T/p.R1159W

LB/VUS

VUS

7.08 × 10⁻⁴

9.20 × 10⁻⁵

HERC2 (VUS), MYBPC3 (P)

9

F,

deceased 0–5

c.950-20_950-17delTTTT

c.3233G>A/p.R1078Q

LB

LB/VUS

4.06 × 10⁻⁵

2.62 × 10⁻⁴

TBCK (LB/VUS)

10²

F,

11–15

c.2547del/p.K850Sfs*11

P

N/A

-

12

M,

0–5

c.2314C>T/p.R772X

c.3013T>A/p.L1005M

P

VUS

3.19 × 10⁻⁵

N/A

CNV: 697 kb

gain 6q25.3

14

M,

0–5

c.2180dupG/p.S728fs*34

P

N/A

-

15²

F,

11–15

c.517_518delGA/p.D173Qfs*8

P

N/A

-

16²

F,

deceased

c.517_518delGA/p.D173Qfs*8

P

N/A

-

18

F,

16–20

c.2283+1G>T

c.3018dupG/p.K1007Efs*10

VUS/LP

LP

N/A

N/A

-

19

M,

6–10

c.407C>G/p.T136R

c.2864C>T/p.P955L

VUS

VUS

N/A

1.59 × 10⁻⁵

CACNA1C (LP/P)

20

M,

0–5

Exon 1-14 dup

VUS

N/A

-

21

M,

16–20

c.1549C>T/p.R517W

Exon 1 del

VUS

LP

7.96 × 10⁻⁶

N/A

-

22

M,

11–15

c.955C>T/p.Q319X

P

N/A

CDH4 (VUS)

23

M,

11–15

c.949+1G>A

LP

N/A

-

25

F,

0–5

c.3605del/p.V1202Afs*52

LP

N/A

-

26

M,

0–5

c.623G>A/p.C208Y

VUS

N/A

-

27

M,

0-5

c.949+1G>A

LP

N/A

-

28

F,

0–5

c.949+1G>A

LP

N/A

-

30

M,

0–5

c.3095G>C/p.Arg1032Thr

c.3116C>A/p.Thr1039Asn

VUS

VUS

N/A

N/A

-