"GeneDx"[submitter] AND "LOC126860392"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 426262	NM_006269.2(RP1):c.4970G>T (p.Cys1657Phe)	LOC126860392, RP1 (C1657F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1310198	NM_006269.2(RP1):c.5332A>G (p.Asn1778Asp)	LOC126860392, RP1 (N1778D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 426622	NM_006269.2(RP1):c.5375C>G (p.Ala1792Gly)	LOC126860392, RP1 (A1792G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 432787	NM_006269.2(RP1):c.5509G>A (p.Val1837Ile)	LOC126860392, RP1 (V1837I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372953	NM_006269.2(RP1):c.5639C>G (p.Pro1880Arg)	LOC126860392, RP1 (P1880R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 143136	NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)	RP1, LOC126860392 (R1933*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 523946	NM_006269.2(RP1):c.5962dup (p.Ile1988fs)	LOC126860392, RP1 (I1988fs)	Duplication (frameshift variant)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic

ClinVar