C3151086[trait identifier] AND "DBGen Ocular Genomics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213911	NM_000329.3(RPE65):c.1443del (p.Asp482fs)	RPE65 (D482fs)	Deletion (frameshift variant)	Retinitis pigmentosa 20	GPathogenic
Select item 1213916	NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter)	RPE65 (S410*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20	GPathogenic
Select item 1213915	NM_000329.3(RPE65):c.314C>T (p.Thr105Ile)	RPE65 (T105I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance

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