Table 4 Pathogenic and likely pathogenic variants in other genes

1

Methylmalonic aciduria, cbla type, MMAA

ENST00000281317

1

c.433C > T

p.Arg145Ter

PVS1 + PS3 + PM4 + PP2 + PP3

2

2

Epidermolysis bullosa dystrophica, AR, COL7A1

ENST00000328333

1

c.5287C > T

p.Arg1763Ter

PVS1 + PM1 + PM4 + PP2

1

3

Galactosemia, GALT

ENST00000378842

1

c.563A > G

p.Gln188Arg

PS3 + PM1 + PP2 + PP3 + PP4 + PP5

2

4

Smith-Lemli-Opitz syndrome, DHCR7

ENST00000355527

2

c.730G > A

p.Gly244Arg

PS1 + PM2 + PP2 + PP3 + PP4 + PP5

1

5

c.862G > A

p.Glu288Lys

PM2 + PP1 + PP2 + PP3 + PP4 + PP5

1

6

Biotinidase deficiency, BTD

ENST00000303498

1

c.469C > T

p.Arg157Cys

PS3 + PM1 + PM2 + PM5 + PP2 + PP3

1

7

Medium chain ACYL-CoA dehydrogenase deficiency, ACADM

ENST00000420607

1

c.811G > G/A

p.Gly271Arg

PS1 + PS3 + PP2 + PP3 + PP5

1

8

Junctional Epidermolysis bullosa, LAMB3

ENST00000391911

1

c.2138-2A > G^a

PVS1 + PM2 + PP3

2

9

Metachromatic leukodystrophy, ARSA

ENST00000216124

1

c.1210 + 1G > T^a

PVS1 + PM2 + PP3 + PP5

1

10

Peroxisome biogenesis disorder 1A (Zellweger), PEX1

ENST00000248633

1

c.2926 + 2 T > C

PVS1 + PM2 + PP3 + PP5

1

11

Polycystic kidney disease, AR, PKHD1

ENST00000371117

2

c.8441-1G > C^a

PVS1 + PM2 + PP3

1

12

c.1480C > T, p.Arg494Ter

PVS1 + PS3 + PM2 + PM4 + PP2

1

13

Albinism type 2, OCA2

ENST00000354638

1

c.1580 T > G

p.Leu527Arg^b

PM2 + PP2 + PP3 + PP4 + PP5

2

14

Phenylketonuria, PAH

ENST00000553106

1

c.688G > A

p.Val230Ile

PS4 + PM1 + PP2 + PP3 + PP5

2

15

Limb Girdle muscle dystrophy type 2A, CAPN3

ENST00000397163

1

c.1504A > G

p.Ile502Val

PM1 + PM2 + PM5 + PP2 + PP3

1

16

Congenital adrenal hyperplasia, CYP21A2

ENST00000418967

1

c.373C > T

p.Arg125Cys

PM2 + PP2 + PP3 + PP4 + PP5

1

17

Megalencephalic leukoencephalopathy with subcortical cysts, MLC1

ENST00000311597

2

c.65G > A

p.Arg22Gln

PS3 + PP2 + PP3 + PP4

1

18

c.959C > A

p.Thr320Lys

PS3 + PM2 + PP2 + PP3 + PP5

1

19

Primary hyperoxaluria type 1, AGXT

ENST00000307503

1

c.302 T > C

p.Leu101Pro^b

PS3 + PM2 + PP2 + PP3

1

20

Gaucher disease, GBA

ENST00000327247

2

c.866G > C

p.Gly289Ala^b

PM2 + PP2 + PP3 + PP4 + PP5

1

21

c.1448 T > C

p.Leu483Pro^b

PS3 + PM5 + PP2 + PP3 + PP5

1

22

Argininosuccinic aciduria, ASL

ENST00000304874

1

c.857A > G

p.Gln286Arg

PS4 + PP2 + PP3 + PP5

1

23

Canavan disease, ASPA

ENST00000263080

1

c.902 T > C

p.Leu301Pro^b

PM2 + PP2 + PP3 + PP4 + PP5

1

24

Glutaric acidemia type 1, GCDH

ENST00000222214

1

c.281G > A

p.Arg94Gln^b

PM2 + PM5 + PP2 + PP3 + PP4 + PP5

1

25

Krabbe disease, GALC

ENST00000261304

1

c.956A > G

p.Tyr319Cys^b

PM1 + PM2 + PM5 + PP2 + PP3

1

26

Congenital ichthyosis, AR 1, TGM1

ENST00000206765

1

c.550C > T

p.Pro184Ser

PM2 + PM3 + PP2 + PP3 + PP5

1

27

Very Long chain fatty acid acyl-CoA dehydrogenase deficiency, ACADVL

ENST00000543245

1

c.1480 T > C

p.Phe494Leu

PM1 + PM2 + PP2 + PP3

1

28

Niemann Pick disease type C1, NPC1

ENST00000269228

1

c.3560C > T

p.Ala1187Val

PM5 + PP2 + PP3 + PP4 + PP5

1