"Genomics England Pilot Project, Genomics England"[submitter] AND "USH - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184580	NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)	USH2A (W4552*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 558124	NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)	USH2A (G4403fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 438009	NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter)	USH2A (Y4318*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 1184581	NM_206933.4(USH2A):c.12356T>C (p.Phe4119Ser)	USH2A (F4119S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GPathogenic
Select item 197932	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A (C3358Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GPathogenic/Likely pathogenic
Select item 197447	NM_206933.4(USH2A):c.7595-3C>G	USH2A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 384319	NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	USH2A (G2313C)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +5 more	GConflicting classifications of pathogenicity
Select item 1184583	NM_206933.4(USH2A):c.6486-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 504513	NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)	USH2A (R1549*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic
Select item 224745	NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter)	USH2A (E1492*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 265288	NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)	USH2A, USH2A-AS1 (Q1063fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +22 more	GPathogenic
Select item 2359	NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)	USH2A (C419F)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic
Select item 48347	NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	USH2A (N346H)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Usher syndrome +7 more	GPathogenic
Select item 1184479	NM_206933.4(USH2A):c.163C>T (p.Gln55Ter)	USH2A (Q55*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic