ClinVar (all) for Orgtrack (Select 506614) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547180	NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs)	RP1 (A423fs)	Indel (frameshift variant)	Leber congenital amaurosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 547179	NM_003322.6(TULP1):c.524dup (p.Pro176fs)	TULP1 (P176fs +1 more)	Duplication (frameshift variant)	Leber congenital amaurosis 1	GPathogenic