"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297109	NM_006269.2(RP1):c.615+1G>T	RP1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812399	NM_006269.2(RP1):c.688G>T (p.Gly230Ter)	RP1 (G230*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 5970	NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	RP1 (T373I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 620129	NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)	RP1 (S542*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic
Select item 1297110	NM_006269.2(RP1):c.2041dup (p.Ile681fs)	RP1 (I681fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 523946	NM_006269.2(RP1):c.5962dup (p.Ile1988fs)	LOC126860392, RP1 (I1988fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar