"Dept Of Ophthalmology, Nagoya University"[submitter] AND "NRL"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2160136	NM_001354768.3(NRL):c.652C>T (p.Arg218Cys)	LOC130055387, NRL (R113C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3028275	NM_001354768.3(NRL):c.604C>A (p.Arg202=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028276	NM_001354768.3(NRL):c.371A>C (p.Gln124Pro)	NRL (Q124P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 724215	NM_001354768.3(NRL):c.186C>T (p.Thr62=)	NRL	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +1 more	GLikely benign
Select item 916413	NM_001354768.3(NRL):c.152C>T (p.Pro51Leu)	NRL (P51L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 966141	NM_001354768.3(NRL):c.149C>T (p.Ser50Leu)	NRL (S50L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2124360	NM_001354768.3(NRL):c.74G>A (p.Arg25Gln)	NRL (R25Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866730	NM_001354768.3(NRL):c.73C>T (p.Arg25Trp)	NRL (R25W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028277	NM_001354768.3(NRL):c.60G>A (p.Lys20=)	NRL	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028278	NM_001354768.3(NRL):c.36T>C (p.Tyr12=)	NRL	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance