Table 3 Pathogenic and likely pathogenic variants observed in the three commonest disorders

1

Deafness, AR 4, with enlarged vestibular aqueduct, SLC26A4

ENST00000265715

4

c.1001G > T, p.Gly334Val

PS3 + PM2 + PP2 + PP3 + PP4 + PP5

2

c.1226G > C, p.Arg409Pro^a

PM2 + PM5 + PP2 + PP3 + PP5

1

c.1468A > C, p.Ile490Leu^a

PS1 + PM1 + PP2 + PP3 + PP5

1

c.1003 T > C, p.Phe335Leu

PS1 + PP2 + PP3 + PP5

1

2

Deafness, AR,1A, GJB2

ENST00000382844

2

c.231G > A, p.Trp77Ter^a

PVS1 + PS3 + PM1 + PM4 + PP2 + PP3

2

c.71G > A, p.Trp24Ter^a

PVS1 + PS3 + PM1 + PM4 + PP2 + PP3

1

3

Deafness, AR, 8, TMPRSS3

ENST00000291532

2

c.413C > A, p.Ala138Glu

PM1 + PM2 + PP2 + PP3

1

c.323-6G > A^a

PS3 + PS4 + PM2 + PP3

2

4

Deafness AR,7, TMC1

ENST00000297784

1

c.1165C > T, p.Arg389Ter

PVS1 + PS3 + PM2 + PM4 + PP3

1

5

Cystic fibrosis, CFTR

ENST00000003084

9

c.223C > T, p.Arg75Ter

PVS1 + PS3 + PM2 + PM4 + PP2 + PP3

1

c.1646G > A, p.Ser549Asn^a

PS3 + PM1 + PM2 + PM5 + PP2 + PP3 + PP5

1

c.595C > T, p.His199Tyr

PS3 + PM1 + PM2 + PM5 + PP2 + PP3 + PP5

1

c.3209G > A, p.Arg1070Gln

PS3 + PM1 + PM5 + PP2 + PP3 + PP5

1

p.Phe508del

PS3 + PM1 + PM4 + PP2 + PP3

1

c.4096A > T, p.Ile1366Phe

PM1 + PM2 + PP2 + PP3

1

c.1472G > T, p.Cys491Phe

PM1 + PM2 + PP2 + PP3

1

c.4009 T > G, p.Phe1337Val

PM1 + PM2 + PP2 + PP3

1

c.1859A > T, p.His620Leu

PM1 + PM2 + PM5 + PP2 + PP3

1

6

Glycogen storage disease II, GAA

ENST00000302262

1

c.1933G > A, p.Asp645Asn

PS4 + PM1 + PM2 + PM5 + PP2 + PP3 + PP5

3