"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812399	NM_006269.2(RP1):c.688G>T (p.Gly230Ter)	RP1 (G230*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 812400	NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)	RP1 (G723*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 812401	NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter)	RP1 (C727*)	Indel (nonsense +1 more)	not provided	GPathogenic

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