"Clinical Genetics, Academic Medical Center"[submitter] AND "NR2E3"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 963680	NM_014249.4(NR2E3):c.95G>A (p.Trp32Ter)	NR2E3 (W32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +11 more	GPathogenic/Likely pathogenic
Select item 1284887	NM_014249.4(NR2E3):c.155A>G (p.Asp52Gly)	NR2E3 (D52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 558411	NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg)	NR2E3 (K57R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 5530	NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	NR2E3 (R76Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 741396	NM_014249.4(NR2E3):c.372G>A (p.Pro124=)	NR2E3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 260368	NM_014249.4(NR2E3):c.694G>A (p.Val232Ile)	NR2E3 (V232I)	Single nucleotide variant (missense variant)	Enhanced S-cone syndrome +3 more	GBenign/Likely benign
Select item 1165401	NM_014249.4(NR2E3):c.948_951= (p.Asp316_Pro317=)	NR2E3	Variation (no sequence alteration)	not provided	GBenign

ClinVar