ClinVar for MedGen (Select 863780) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627610	NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)	IMPG2 (F1016S)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 5	GLikely pathogenic
Select item 1801828	NM_016247.4(IMPG2):c.86-8C>G	IMPG2	Single nucleotide variant (intron variant)	Vitelliform macular dystrophy 5	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 1167430	NM_016247.4(IMPG2):c.828+17_828+18insC	IMPG2	Insertion (intron variant)	Vitelliform macular dystrophy 5 +2 more	GBenign
Select item 1032727	NM_016247.4(IMPG2):c.2636G>C (p.Ser879Thr)	IMPG2 (S879T)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 5 +1 more	GUncertain significance
Select item 978983	NM_016247.4(IMPG2):c.2346_2347del (p.Arg782fs)	IMPG2 (R782fs)	Microsatellite (frameshift variant)	Vitelliform macular dystrophy 5	GPathogenic
Select item 959814	NM_016247.4(IMPG2):c.1658del (p.Val553fs)	IMPG2 (V553fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 866736	NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro)	IMPG2 (A243P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 599088	NM_016247.4(IMPG2):c.2816T>A (p.Leu939His)	IMPG2 (L939H)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 5	GLikely pathogenic
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 191183	NM_016247.4(IMPG2):c.101C>G (p.Ser34Cys)	IMPG2 (S34C)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 5	GUncertain significance
Select item 191182	NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro)	IMPG2 (R127P)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 5	GLikely pathogenic
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 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 162138	NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe)	IMPG2 (C1077F)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 5	GPathogenic
Select item 143151	NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	IMPG2 (R1088*)	Single nucleotide variant (nonsense)	Retinal dystrophy +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 3550	NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)	IMPG2 (F124L)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 20