"Blueprint Genetics"[submitter] AND "IMPG2"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194768	NM_016247.4(IMPG2):c.3423-7_3423-4del	IMPG2	Microsatellite (intron variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 867020	NM_016247.4(IMPG2):c.3233+8_3233+45del	IMPG2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 865918	NM_016247.4(IMPG2):c.3233G>A (p.Arg1078Lys)	IMPG2 (R1078K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866639	NM_016247.4(IMPG2):c.3229dup (p.Cys1077fs)	IMPG2 (C1077fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 866107	NM_016247.4(IMPG2):c.3172C>T (p.Pro1058Ser)	IMPG2 (P1058S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 867187	NM_016247.4(IMPG2):c.3041G>T (p.Cys1014Phe)	IMPG2 (C1014F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 437941	NM_016247.4(IMPG2):c.3023-6_3030dup	IMPG2	Duplication (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 867047	NM_016247.4(IMPG2):c.3008_3009del (p.Leu1003fs)	IMPG2 (L1003fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867193	NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer)	IMPG2	Indel (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 842719	NM_016247.4(IMPG2):c.2989G>A (p.Ala997Thr)	IMPG2 (A997T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 865823	NM_016247.4(IMPG2):c.2973C>A (p.Tyr991Ter)	IMPG2 (Y991*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866232	NM_016247.4(IMPG2):c.2873G>A (p.Ser958Asn)	IMPG2 (S958N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866240	NM_016247.4(IMPG2):c.2867dup (p.Asn956fs)	IMPG2 (N956fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865816	NM_016247.4(IMPG2):c.2761T>C (p.Ser921Pro)	IMPG2 (S921P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 865938	NM_016247.4(IMPG2):c.2629A>C (p.Met877Leu)	IMPG2 (M877L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866217	NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter)	IMPG2 (Q814*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 865817	NM_016247.4(IMPG2):c.2352G>T (p.Trp784Cys)	IMPG2 (W784C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 862262	NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer)	IMPG2	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866965	NM_016247.4(IMPG2):c.1926T>A (p.Ala642=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866757	NM_016247.4(IMPG2):c.1739T>G (p.Leu580Ter)	IMPG2 (L580*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 865825	NM_016247.4(IMPG2):c.1595C>T (p.Pro532Leu)	IMPG2 (P532L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865937	NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter)	IMPG2 (S530*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 631902	NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs)	IMPG2 (S527fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 849261	NM_016247.4(IMPG2):c.1543+5G>C	IMPG2	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866649	NM_016247.4(IMPG2):c.1328_1335del (p.Ser443fs)	IMPG2 (S443fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867008	NM_016247.4(IMPG2):c.1312A>G (p.Ser438Gly)	IMPG2 (S438G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866148	NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter)	IMPG2 (W421*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 867017	NM_016247.4(IMPG2):c.1000G>A (p.Glu334Lys)	IMPG2 (E334K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866387	NM_016247.4(IMPG2):c.922del (p.Tyr308fs)	IMPG2 (Y308fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865917	NM_016247.4(IMPG2):c.854dup (p.Gly286fs)	IMPG2 (G286fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 286964	NM_016247.4(IMPG2):c.829-1G>T	IMPG2	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866788	NM_016247.4(IMPG2):c.826G>T (p.Glu276Ter)	IMPG2 (E276*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866931	NM_016247.4(IMPG2):c.819T>G (p.Phe273Leu)	IMPG2 (F273L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
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 866547	NM_016247.4(IMPG2):c.667-1G>A	IMPG2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866954	NM_016247.4(IMPG2):c.572C>G (p.Ser191Ter)	IMPG2 (S191*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
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 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 845633	NM_016247.4(IMPG2):c.379C>T (p.Arg127Ter)	IMPG2 (R127*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 866184	NM_016247.4(IMPG2):c.24G>C (p.Gly8=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance

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Items: 42