Table 2 Pathogenic variants with inconsistent clinical correlation

RD1–12

CRD

Sporadic

C2orf71

NM_001029883.2

c.1514G > A

p.W505*

Heterozygous

CM1511740

[15]

C2orf71

c.3266dup

p.S1090Ifs*17

Heterozygous

Novel

(predicted as pathogenic

BBS4

NM_033028.4

c.1375C > T

p.Q459*

Heterozygous

Novel

(predicted as pathogenic)

TYRP1

NM_000550.2

c.1557 T > G

p.Y519*

Heterozygous

CM135790/rs41302073

[41]

GUCA1A

NM_000409.3

c.149C > T

p.P50L

Heterozygous

CM012969/rs104893968

[13]

RD11–05

RP

Sporadic

GUCA1A

NM_000409.3

c.149C > T

p.P50L

Heterozygous

CM012969/rs104893968

[13]

RD14–05

RP

Sporadic

TRPM1

NM_002420.5

c.1192 T > C

p.W398R

Heterozygous

Novel

(predicted as pathogenic)

TRPM1

c.3914G > A

p.R1305H

Heterozygous

rs13380059

(predicted as unlikely pathogenic

RD11–06

RP

Sporadic

GUCY2D

NM_000180.3

c.1724C > T

p.P575L

Heterozygous

CM023932/rs28743021

[14]

TYR

NM_000372.4

c.1217C > T

p.P406L

Heterozygous

CM910385/rs104894313

[42]

TYRP1

NM_000550.2

c.1261 + 1G > A

IVS9 + 1G > A

Heterozygous

rs140365820

(predicted as pathogenic)

RD4–05

RP

Sporadic

EYS

NM_001142800.1

c.6138G > A

p.W2046*

Heterozygous

Novel

(predicted as pathogenic)

RD11–02

RP

Sporadic

EYS

NM_001142800.1

c.5677_5681del

p.Y1893Rfs*12

Heterozygous

Novel

(predicted as pathogenic)

RD4–03

RP

Sporadic

FLVCR1

NM_014053.3

c.1546C > T

p.R516*

Heterozygous

rs538343832

(pathogenic but likely incidental)

RD14–03

RP

sporadic

ABCA4

NM_000350.2

c.5714 + 5G > A

IVS40 + 5G > A

Heterozygous

CS982057

[43]

USH2A

NM_206933.2

c.8600C > T

p.S2867 L

Heterozygous

rs145468090

(predicted as pathogenic)

USH2A

c.10552G > A

p.V3518I

Heterozygous

rs75397806

(predicted as unlikely pathogenic)

RD15–01

RP

Autosomal recessive

ABCA4

NM_000350.2

c.4685 T > C

p.I1562T

Heterozygous

CM970013

[44]

RPGRIP1

NM_020366.3

c.1753C > T

p.P585S

Heterozygous

CM111852

[45]

LRP5

NM_002335.3

c.4574C > T

p.A1525V

Heterozygous

CM078457

[46]

RD6–06

RP

sporadic

CNGB1

NM_001297.4

c.2957A > T

p.N986I

Heterozygous

CM111413/rs201162411

(predicted as likely pathogenic)

MYO7A

NM_000260.3

c.1132C > T

p.R378C

Heterozygous

rs199818783

(predicted as likely pathogenic)

RD6–02

RP

Sporadic

RIMS1

NM_014989.5

c.3027 T > C

p.=

Heterozygous

Novel

(predicted as affecting splicing)

LCA5

NM_181714.3

c.2050G > C

p.A684P

Heterozygous

rs745875716

(predicted as unlikely pathogenic)