ClinVar for MedGen (Select 96908) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523415	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	EYS, PHF3 (E2840G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Astigmatism +11 more	GUncertain significance
Select item 374139	NM_000329.3(RPE65):c.1338+1G>A	RPE65	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 2 +5 more	GPathogenic
Select item 374028	NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)	GUCY2D (G439R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +5 more	GConflicting classifications of pathogenicity
Select item 374027	NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	CNGB3	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 283615	NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	GUCY2D	Deletion (inframe_deletion)	Cone-rod dystrophy 6 +7 more	GConflicting classifications of pathogenicity
Select item 184278	NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)	NF1 (G663R)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 65519	m.3700G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database

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