Table 2 Cases with a single heterozygous (likely) causative variant in a gene causing recessive disease

7762

Stargardt disease

ABCA4

NM_000350.2

c.1822T>A

p.(Phe608Ile)^a

Deep-intronic variant c.5196+1137G>A detected

4459

Stargardt disease

ABCA4

NM_000350.2

c.3113C>T

p.(Ala1038Val)^a

Deep-intronic variant c.4539+2001G>A detected

4913

Retinitis pigmentosa

ABCA4

NM_000350.2

c.3113C>T

p.(Ala1038Val)^a

No second variant

0732

Retinitis pigmentosa

ABCA4

NM_000350.2

c.4771G>A

p.(Gly1591Arg)^a

No second variant

4795Z

Cone dystrophy

ABCA4

NM_000350.2

c.5056G>A

p.(Val1686Met)^a

No second variant

4182

Stargardt disease

ABCA4

NM_000350.2

c.5584+6T>C

r.(spl?)^a

Deep-intronic variant c.4539+2001G>A detected

2851

Cone–rod dystrophy

ABCA4

NM_000350.2

c.5882G>A

p.(Gly1961Glu)^a

ND

4261

Macular dystrophy

ABCA4

NM_000350.2

c.6148G>C

p.(Val2050Leu)^a

No second variant

0889

Stargardt disease

ABCA4

NM_000350.2

c.634C>T

p.(Arg212Cys)^a

Deep-intronic variant c.4539+2001G>A detected

3013

Retinitis pigmentosa

ALMS1

NM_015120.4

c.6571_6574del

p.(Ser2191fs)

ND

USH2A

NM_206933.2

c.11815G>A

p.(Glu3939Lys)^a

ND

3988

Leber congenital amaurosis

BBS1

NM_024649.4

c.1131_1135del

p.(Cys377fs)^a

No second variant

5017

Retinitis pigmentosa

BBS5

NM_152384.2

c.551A>G

p.(Asn184Ser)^a

No second variant

3366

Retinitis pigmentosa

C2ORF71

NM_001029883.1

c.530C>T

p.(Pro177Leu)

No second variant

CNGB1

NM_001297.4

c.2360A>G

p.(Tyr787Cys)

No second variant

3803

Leber congenital amaurosis

CEP290

RPE65

NM_025114.3

NM_000329.2

c.1079G>A

c.676G>A

p.(Arg360Gln)

p.(Val226Ile)

No second variant

No second variant

5502

Leber congenital amaurosis

CEP290

NM_025114.3

c.4960C>T

p.(Gln1654*)

Deep-intronic variant c.2991+1655A>G detected

8389

Retinitis pigmentosa

CEP290

NM_025114.3

c.5649dup

p.(Leu1884fs)^a

Deep-intronic variant c.2991+1655A>G detected

6858

Retinal dystrophy

CEP290

NM_025114.3

c.6547C>T

p.(His2183Tyr)

No second variant

8120

Macular dystrophy

CNGA3

NM_001298.2

c.1618G>A

p.(Val540Ile)^a

ND

CDHR1

NM_033100.2

c.783G>A

r.(spl?)^a

ND

0308

Retinitis pigmentosa

EYS

NM_001142800.1

c.1161del

p.(Lys387fs)

Copy number variant c.(2137+1_2138-1)_(2259+1_2260-1)dup detected

2400

Retinitis pigmentosa

EYS

NM_001142800.1

c.5167_5168del

p.(Leu1723fs)

Copy number variant c.(6424+1_6425-1)_(6571+1_6572-1)del detected

3982

Retinitis pigmentosa

EYS

NM_001142800.1

c.5167_5168del

p.(Leu1723fs)

Copy number variant c.(3243+1_3244-1)_(3443+1_3444-1)dup detected

1073

Cone dystrophy

KCNV2

NM_133497.3

c.820G>A

p.(Val274Met)

No second variant

5428

Retinal dystrophy

LEPREL1

NM_018192.3

c.1906C>T

p.(Pro636Ser)

No second variant

3854

Cone–rod dystrophy

MAK

NM_001242957

c.941C>T

p.(Pro314Leu)

ND

5615

Cone dystrophy

MFRP

NM_031433.3

c.855T>A

p.(Cys285*)

No second variant

2666

Developmental eye defect

MKS1

NM_017777.3

c.857A>G

p.(Asp286Gly)^a

No second variant

4368

Macular dystrophy

NMNAT1

NM_022787.3

c.769G>A

p.(Glu257Lys)^a

No second variant

9731

Cone–rod dystrophy

NR2E3

NM_014249.2

c.724_725del

p.(Ser242fs)

Second variant c.119-2A>C detected

4795B

Retinal dystrophy

OCA2

NM_000275.2

c.1025A>G

p.(Tyr342Cys)^a

ND

0235

Retinitis pigmentosa

PDE6B

NM_000283.3

c.(?_-53)_(*785_?)del

p.0

No second variant

6317

Retinitis pigmentosa

PDE6B

NM_000283.3

c.1210A>G

p.(Arg404Gly)

ND

6488

Retinitis pigmentosa

PDE6B

NM_000283.3

c.2193+1G>A

r.(spl?)^a

Copy number variant c.1923_1971delinsTCTGGGTA detected

8843

Retinitis pigmentosa

PDE6B

NM_000283.3

c.2503+5G>C

r.(spl?)^a

ND

7248

Cone dystrophy

RLBP1

NM_000326.4

c.454G>A

p.(Asp152Asn)

ND

8369

Retinitis pigmentosa

RP1

NM_006269.1

c.2005G>A

p.(Ala669Thr)^a

ND

2438

Retinitis pigmentosa

RP1

NM_006269.1

c.368_369dup

p.(Pro124fs)^a

No second variant

4698

Retinitis pigmentosa

RP1

NM_006269.1

c.368_369dup

p.(Pro124fs)^a

ND

9807

Retinitis pigmentosa

RP1

NM_006269.1

c.4961C>T

p.(Ser1654Phe)

ND

MAK

NM_005906.4

c.383C>A

p.(Pro128Gln)

ND

0459

Retinitis pigmentosa

RP1L1

NM_178857.5

c.1153C>T

p.(Arg385Trp)

ND

9088

Retinitis pigmentosa

USH1G

NM_173477.4

c.83C>T

p.(Pro28Leu)

No second variant

1428

Retinitis pigmentosa

USH2A

NM_206933.2

c.10510C>G

p.(Pro3504Ala)^a

No second variant

2681

Retinitis pigmentosa

USH2A

NM_206933.2

c.12823T>A

p.(Ser4275Thr)

ND

0731

Cone–rod dystrophy

USH2A

NM_206933.2

c.15427C>T

p.(Arg5143Cys)^a

ND

8964

Retinitis pigmentosa

USH2A

NM_206933.2

c.1582G>A

p.(Asp528Asn)

No second variant

8481

Retinitis pigmentosa

USH2A

NM_206933.2

c.5516T>A

p.(Val1839Glu)

No second variant

CDH23

NM_022124.5

c.5563C>T

p.(Pro1855Ser)

No second variant

9593

Retinitis pigmentosa

USH2A

NM_206933.2

c.5698T>G

p.(Cys1900Gly)

No second variant