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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191123	NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)	MERTK (K109*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GPathogenic
Select item 957448	NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)	MERTK (E434fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 979013	NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs)	MERTK (A446fs)	Deletion (frameshift variant)	Retinitis pigmentosa 38	GPathogenic
Select item 191124	NM_006343.3(MERTK):c.1604+2T>G	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 5402	NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)	MERTK (R651*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 979014	NM_006343.3(MERTK):c.2079+2T>G	MERTK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 5403	NM_006343.3(MERTK):c.2189+1G>T	MERTK	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic
Select item 265244	NM_006343.3(MERTK):c.2214del (p.Cys738fs)	MERTK (C738fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 979015	NM_006343.3(MERTK):c.2219C>T (p.Ala740Val)	MERTK (A740V)	Single nucleotide variant (missense variant)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 191125	NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)	MERTK (Y754*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 37305	NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)	MERTK (R775*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 979020	NM_006343.2:c.(1144+1_1145-1)_(1296+1_1297-1)del	MERTK	Deletion	Autosomal recessive retinitis pigmentosa	GPathogenic