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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143151	NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	IMPG2 (R1088*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +2 more	GPathogenic/Likely pathogenic
Select item 978983	NM_016247.4(IMPG2):c.2346_2347del (p.Arg782fs)	IMPG2 (R782fs)	Microsatellite (frameshift variant)	Vitelliform macular dystrophy 5	GPathogenic
Select item 191180	NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)	IMPG2 (W758*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +1 more	GPathogenic/Likely pathogenic
Select item 978984	NM_016247.4(IMPG2):c.909-802_1154-539del	IMPG2	Deletion (splice acceptor variant +1 more)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 813053	NM_016247.4(IMPG2):c.533+4_533+7del	IMPG2	Deletion (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 191181	NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)	IMPG2 (Y171*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +1 more	GPathogenic
Select item 978976	NM_016247.4(IMPG2):c.189dup (p.Gln64fs)	IMPG2 (Q64fs)	Duplication (frameshift variant)	not provided	GPathogenic

ClinVar