"Natera, Inc."[submitter] AND "LOC122152296"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1066803	NM_206933.4(USH2A):c.2809+1G>C	LOC122152296, USH2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	Usher syndrome +5 more	GConflicting classifications of pathogenicity
Select item 856761	NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg)	LOC122152296, USH2A (C934R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 991453	NM_206933.4(USH2A):c.2726C>A (p.Pro909His)	LOC122152296, USH2A (P909H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 842442	NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile)	LOC122152296, USH2A (T907I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018385	NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr)	LOC122152296, USH2A (D903Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 550419	NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	LOC122152296, USH2A (H885Y)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 166515	NM_206933.4(USH2A):c.2633G>A (p.Arg878His)	LOC122152296, USH2A (R878H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 857792	NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)	USH2A, LOC122152296 (V874E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 557167	NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)	LOC122152296, USH2A (C870*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 48488	NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	LOC122152296, USH2A (C849Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 969252	NM_206933.4(USH2A):c.2514A>G (p.Gln838=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 229624	NM_206933.4(USH2A):c.2479A>C (p.Asn827His)	LOC122152296, USH2A (N827H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 797818	NM_206933.4(USH2A):c.2460T>C (p.Asn820=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 286632	NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)	LOC122152296, USH2A (N820S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 957934	NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr)	LOC122152296, USH2A (A800T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 751828	NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)	LOC122152296, USH2A (V789I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 959217	NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)	USH2A, LOC122152296 (C777Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity