Table 5.

X-Linked Congenital Stationary Night Blindness: Notable Pathogenic Variants by Gene

GeneReference SequencesDNA Nucleotide Change (Alias 1)Predicted Protein Change (Alias 1)Comment [Reference]
CACNA1F NM_005183​.2 c.3166dupC
(c.3167_3168dupC)		p.Leu1056ProfsTer11
(Leu991insC)		Founder variant reported in persons of Dutch-German Mennonite descent [Boycott et al 2000]
NYX NM_022567​.2
NP_072089​.1 		c.85_108delp.Arg_Ala36delFounder variant identified in the US [Bech-Hansen et al 2000]
c.856delGp.Asp286ThrfsTer62Identified in Flemish persons from Belgium [Leroy et al 2009]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

From: X-Linked Congenital Stationary Night Blindness

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