"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164552	NM_006269.2(RP1):c.5066G>A (p.Ser1689Asn)	LOC126860392, RP1 (S1689N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 624326	NM_006269.2(RP1):c.5377C>T (p.Pro1793Ser)	LOC126860392, RP1 (P1793S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 252662	NM_006269.2(RP1):c.5673G>T (p.Leu1891Phe)	LOC126860392, RP1 (L1891F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 363309	NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe)	LOC126860392, RP1 (L1901F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +2 more	GBenign/Likely benign
Select item 1045914	NM_006269.2(RP1):c.5737C>T (p.Leu1913Phe)	LOC126860392, RP1 (L1913F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284370	NM_006269.2(RP1):c.5746C>T (p.Gln1916Ter)	LOC126860392, RP1 (Q1916*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic

ClinVar