"The Cell Therapy Center, The University of Jordan"[submitter] AND "AB - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99375	NM_000350.3(ABCA4):c.5460+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 99070	NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	ABCA4 (G550R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +6 more	GPathogenic/Likely pathogenic