Table 1 Reported findings of potential medical relevance for the first 20 MedSeq genomes

SPATA7

c.94 + 2 T > C

p.?

Leber congenital amaurosis

LP

AR

Carrier Risk

LOF

ERCC5

c.3238C > T

p.Arg1080X

Xeroderma pigmentosum

LP

AR

Carrier Risk

LOF

COL7A1

c.7557 + 1G > T

p.?

Epidermolysis bullosa dystrophica

LP

AR

Carrier Risk

LOF

C2

c.841_849 + 19del

p.Val281_Arg283del

C2 deficiency

LP

AR

Carrier Risk

LOF

MYO7A

c.5648G > A

p.Arg1883Gln

Usher syndrome type I

LP

AR

Carrier Risk

HGMD

NAGA

c.479C > G

p.Ser160Cys

Alpha-N-acetylgalactosaminidase deficiency

LP

AR

Carrier Risk

HGMD

KCNQ1

c.826delT

p.Ser276ProfsX13

Jervell and Lange-Nielsen syndrome

LP

AR

Carrier Risk

LOF

LAMA2

c.5563-2A > G

p.?

Congenital muscular dystrophy type IA

LP

AR

Carrier Risk

LOF

SP110

c.877A > T

p.Lys293X

Hepatic veno-occlusive disease with immunodeficiency

LP

AR

Carrier Risk

LOF

ARSB

c.1450A > G

p.Arg484Gly

Mucopolysaccharidosis type VI

LP

AR

Carrier Risk

HGMD

BEST1

c.602 T > C

p.Ile201Thr

Autosomal recessive bestrophinopathy

LP

AR

Carrier Risk

HGMD

ACOX1

c.1851delT

p.Gly618AlafsX24

Peroxisomal acyl-CoA oxidase deficiency

LP

AR

Carrier Risk

LOF

LIFR

c.2074C > T

p.Arg692X

Stuve-Wiedemann syndrome

LP

AR

Carrier Risk

LOF

PAH

c.842 + 5G > A

p.?

Phenylketonuria

LP

AR

Carrier Risk

HGMD, LOF

MMACHC

c.271dupA

p.Arg91LysfsX14

Methylmalonic aciduria and homocystinuria cblC type

P

AR

Carrier Risk

LOF

CFTR

c.3846G > A

p.Trp1282X

Cystic fibrosis

P

AR

Carrier Risk

HGMD, LOF

PFKM

c.237 + 1G > A

p.?

Glycogen storage disease 7

P

AR

Carrier Risk

HGMD, LOF

CUBN

c.6928_6934del

p.Glu2310CysfsX3

Imerslund-Gräsbeck syndrome

P

AR

Carrier Risk

LOF

DUOX2

c.3847 + 2 T > C

p.?

Hypothyroidism

P

AR

Carrier Risk

LOF

ABCA4

c.5882G > A

p.Gly1961Glu

Stargardt disease

P

AR

Carrier Risk

HGMD

MPO

c.2031-2A > C

p.?

Myeloperoxidase deficiency

P

AR

Carrier Risk

HGMD

SERPINA1

c.1096G > A

p.Glu366Lys

Chronic obstructive pulmonary disease

P

AR

Carrier Risk

HGMD

USH2A

c.1214del

p. Asn405IlefsX3

Usher syndrome type II

P

AR

Carrier Risk

LOF

CLRN1

c.528 T > G

p.Tyr176X

Usher syndrome type III

P

AR

Carrier Risk

HGMD, LOF

CYP1B1

c.171G > A

p.Trp57X

Primary congenital glaucoma

P

AR

Carrier Risk

LOF

NLRP7

c.337_338insG

p.Glu113GlyfsX7

Recurrent hydatidiform mole

P

AR

Carrier Risk

LOF

BTD

c.1330G > C

p.Asp444His

Biotinidase deficiency

P

AR

Carrier Risk

HGMD

SPG7

c.1529C > T

p.Ala510Val

Spastic paraplegia type 7

P

AR

Carrier Risk

HGMD

PYGL

c.25_44dup

p.Ser15ArgfsX21

Glycogen storage disease 6

P

AR

Carrier Risk

LOF

WFS1

c.124C > T

p.Arg42X

Wolfram syndrome

P

AR

Carrier Risk

LOF

CYP1B1

c.1103G > A

p.Arg368His

Primary congenital glaucoma

P

AR

Carrier Risk

HGMD

TCIRG1

c.1674-1G > A

p.?

Infantile malignant osteopetrosis

P

AR

Carrier Risk

HGMD, LOF

LTBP4

c.254delT

p.Leu85ArgfsX15

Cutis laxa, autosomal recessive, type IC

P

AR

Carrier Risk

LOF

RAPSN

c.264C > A

p.Asn88Lys

Congenital myasthenic syndrome

P

AR

Carrier Risk

HGMD

TCTN2

c.1877 T > A

p.Leu626X

Joubert syndrome

P

AR

Carrier Risk

LOF

DUOX2

c.2895_2898del

p.Phe966SerfsX29

Congenital hypothyroidism

P

AR

Carrier Risk

LOF

HFE

c.845G > A

p.Cys282Tyr

Hereditary hemochromatosis

P

AR

Carrier Risk

HGMD

GJB2

c.109G > A

p.Val37Ile

Hearing loss

P

AR

Carrier Risk

HGMD

RAB27A

c.259G > C

p.Ala87Pro

Familial hemophagocytic lymphohistiocytosis

VUS:FP

AR

Carrier Risk

HGMD

CNGA3

c.1669G > A

p.Gly557Arg

Achromatopsia

VUS:FP

AR

Carrier Risk

HGMD

KCNQ1

c.826delT

p.Ser276ProfsX13

Romano Ward syndrome

LP

AD

Monogenic

LOF

MYBPC3

c.3742-3759dup

p.Gly1248_Cys1253dup

Hypertrophic cardiomyopathy

LP

AD

Monogenic

HGMD

MYBPC3

c.2827C > T

p.Arg943X

Hypertrophic cardiomyopathy

P

AD

Monogenic

HGMD, LOF

MYBPC3

c.772G > A

p.Glu258Lys

Hypertrophic cardiomyopathy

P

AD

Monogenic

HGMD

LHX4

c.452-2A > C

p.?

Combined pituitary hormone deficiency

P

AD

Monogenic

LOF

PTPN11

c.1403C > T

p.Thr468Met

LEOPARD syndrome

P

AD

Monogenic

HGMD

PPOX

c.199delC

p.Leu67X

Variegate porphyria

P

AD

Monogenic

HGMD, LOF

MYH7

c.1987C > T

p.Arg663Cys

Hypertrophic cardiomyopathy

P

AD

Monogenic

HGMD

ARSE

c.410G > C

p.Gly137Ala

Chondrodysplasia punctata

VUS:FP

XL

Monogenic

HGMD