"Eurofins Ntd Llc (ga)"[submitter] AND "LOC126860392"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95352	NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)	LOC126860392, RP1 (A1670T)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 498306	NM_006269.2(RP1):c.5017del (p.Tyr1673fs)	RP1, LOC126860392 (Y1673fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1 +2 more	GPathogenic/Likely pathogenic
Select item 95353	NM_006269.2(RP1):c.5019T>G (p.Tyr1673Ter)	LOC126860392, RP1 (Y1673*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 95354	NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro)	LOC126860392, RP1 (S1691P)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 95355	NM_006269.2(RP1):c.5175A>G (p.Gln1725=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 363308	NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala)	RP1, LOC126860392 (G1875A)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 95356	NM_006269.2(RP1):c.6024A>G (p.Lys2008=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity

ClinVar