"Molecular Genetics Laboratory, Institute for Ophthalmic Research"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342339	NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp)	IMPG2 (R1048W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 813049	NM_016247.4(IMPG2):c.1045del (p.Tyr349fs)	IMPG2 (Y349fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 493366	NM_016247.4(IMPG2):c.666+5G>A	IMPG2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813259	NM_016247.4(IMPG2):c.634del (p.Ser212fs)	IMPG2 (S212fs)	Deletion (frameshift variant)	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 813054	NM_016247.4(IMPG2):c.501+5G>A	IMPG2	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 813258	NM_016247.4(IMPG2):c.455G>A (p.Gly152Asp)	IMPG2 (G152D)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 2	GPathogenic
Select item 813050	NM_016247.4(IMPG2):c.188_191del (p.Lys63fs)	IMPG2 (K63fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic

ClinVar