"Faculty of Health Sciences, Beirut Arab University"[submitter] AND "A - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Severe early-childhood-onset retinal dystrophy +5 more	GPathogenic
Select item 978987	NM_000350.3(ABCA4):c.5642C>G (p.Ala1881Gly)	ABCA4 (A1881G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
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 190983	NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)	ABCA4	Microsatellite (frameshift variant +1 more)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic
Select item 99275	NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)	ABCA4 (G1439D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 236102	NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	ABCA4 (R1161H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 190985	NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)	ABCA4 (E939* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 191262	NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)	ABCA4 (N545fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 978982	NM_000350.3(ABCA4):c.1615del (p.Leu539fs)	ABCA4 (L539fs)	Deletion (frameshift variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 99033	NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	ABCA4 (N380K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity