Table 2 Classification of all CDHR1 variants identified in this study according to ACMG standards.

From: CDHR1 mutations in retinal dystrophies

DNA change

Protein change

Classification

c.56-1 G > A

p.?

Pathogenic

c.296 A > G

p.E99G

Uncertain significance

c.639 + 1delG

p.?

Pathogenic

c.783 G > A

p.P261P/p.?

Uncertain significance

c.928 C > T

p.Q310*

Pathogenic

c.1311_1316del

p.L437_T438del

Likely pathogenic

c.1448 A > G

p.E483G

Likely pathogenic

c.1700T > C

p.L567P

Uncertain significance

c.2040 + 5 G > T

p.?

Likely pathogenic

c.2108 G > A

p.G703D

Uncertain significance

c.2522_2528del

p.I841Sfs*119

Pathogenic

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