ClinVar for MedGen (Select 101075) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373916	NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)	ABCA4 (C230S)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +1 more	GPathogenic
Select item 92871	NM_000350.3(ABCA4):c.67-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic