ClinVar for MedGen (Select 462169) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920627	NM_016247.4(IMPG2):c.1468del (p.Thr490fs)	IMPG2 (T490fs)	Deletion (frameshift variant)	Retinitis pigmentosa 56	GLikely pathogenic
Select item 2920626	NM_016247.4(IMPG2):c.2894T>A (p.Met965Lys)	IMPG2 (M965K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 56	GUncertain significance
Select item 1709485	NM_016247.4(IMPG2):c.452T>A (p.Met151Lys)	IMPG2 (M151K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 56	GUncertain significance
Select item 1509063	NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly)	IMPG2 (S963G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1300072	NM_016247.4(IMPG2):c.85+25T>G	IMPG2	Single nucleotide variant (intron variant)	Vitelliform macular dystrophy 5 +2 more	GBenign
Select item 1213854	NM_016247.4(IMPG2):c.3405_3408del (p.Glu1137fs)	IMPG2 (E1137fs)	Deletion (frameshift variant)	Retinitis pigmentosa 56	GPathogenic
Select item 1213852	NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter)	IMPG2 (Q856*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 56	GPathogenic
Select item 1167430	NM_016247.4(IMPG2):c.828+17_828+18insC	IMPG2	Insertion (intron variant)	Vitelliform macular dystrophy 5 +2 more	GBenign
Select item 1065646	NM_016247.4(IMPG2):c.2233del (p.Glu745fs)	IMPG2 (E745fs)	Deletion (frameshift variant)	Retinitis pigmentosa 56 +1 more	GPathogenic
Select item 931664	NM_016247.4(IMPG2):c.1240-2A>G	IMPG2	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 56	GPathogenic
Select item 931480	NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys)	IMPG2 (F1060C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 56 +1 more	GUncertain significance
Select item 931179	NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter)	IMPG2 (Q363*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 56 +1 more	GPathogenic
Select item 930533	NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala)	IMPG2 (T196A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 56	GUncertain significance
Select item 902880	NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe)	IMPG2 (L249F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 866386	NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter)	IMPG2 (W137*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866317	NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe)	IMPG2 (C1038F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 522456	NM_016247.4(IMPG2):c.1826del (p.Val609fs)	IMPG2 (V609fs)	Deletion (frameshift variant)	Retinitis pigmentosa 56	GPathogenic
Select item 522455	NM_016247.4(IMPG2):c.85+2T>A	IMPG2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 56	GPathogenic
Select item 342337	NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GBenign
Select item 194768	NM_016247.4(IMPG2):c.3423-7_3423-4del	IMPG2	Microsatellite (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 95747	NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)	IMPG2 (T674I)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GBenign
Select item 3549	NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)	IMPG2 (R964*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 3548	NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)	IMPG2 (R906*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3547	NM_016247.4(IMPG2):c.887+430_908+274del	IMPG2	Deletion (splice acceptor variant +1 more)	Retinitis pigmentosa 56	GPathogenic
Select item 3546	NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)	IMPG2 (S212*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic

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Items: 25