C0339525[trait identifier] AND "Faculty of Health Sciences, Beirut Ara - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978975	NM_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser)	SNRNP200 (N2103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191118	NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser)	SNRNP200 (G865S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438226	NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)	PRPF8 (R2310G)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 191106	NM_000554.6(CRX):c.274G>A (p.Ala92Thr)	CRX (A92T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 99605	NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	CRX (Y142C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +4 more	GConflicting classifications of pathogenicity
Select item 191298	NM_000554.6(CRX):c.695del (p.Pro232fs)	CRX (P232fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

ClinVar