"Blueprint Genetics"[submitter] AND "LOC122152296"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801616	NM_206933.4(USH2A):c.2809+1G>A	LOC122152296, USH2A	Single nucleotide variant (splice donor variant)	Retinal dystrophy +4 more	GPathogenic
Select item 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 48491	NM_206933.4(USH2A):c.2777G>A (p.Arg926His)	LOC122152296, USH2A (R926H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GUncertain significance
Select item 866924	NM_206933.4(USH2A):c.2761del (p.Leu921fs)	LOC122152296, USH2A (L921fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 550419	NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	LOC122152296, USH2A (H885Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GConflicting classifications of pathogenicity
Select item 866539	NM_206933.4(USH2A):c.2649dup (p.Pro884fs)	LOC122152296, USH2A (P884fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 557167	NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	LOC122152296, USH2A (C870*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +5 more	GPathogenic
Select item 178583	NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)	LOC122152296, USH2A (D778Y)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GConflicting classifications of pathogenicity
Select item 557761	NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)	LOC122152296, USH2A (E771del)	Microsatellite (inframe_deletion)	Usher syndrome type 2A +2 more	GUncertain significance