"Genome-Nilou Lab"[submitter] AND "LOC122152296"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504388	NM_206933.4(USH2A):c.2809+2T>A	USH2A, LOC122152296	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 553620	NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)	LOC122152296, USH2A (Q933*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1325998	NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)	LOC122152296, USH2A (C931Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1352951	NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)	LOC122152296, USH2A (Q927*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 551407	NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)	LOC122152296, USH2A (R926C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 228211	NM_206933.4(USH2A):c.2775T>C (p.Asn925=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 805744	NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)	LOC122152296, USH2A (L921M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 931181	NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)	LOC122152296, USH2A (S917N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 991453	NM_206933.4(USH2A):c.2726C>A (p.Pro909His)	LOC122152296, USH2A (P909H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
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 680395	NM_206933.4(USH2A):c.2643G>A (p.Gln881=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +2 more	GLikely benign
Select item 1209842	NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro)	LOC122152296, USH2A (Q881P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 166515	NM_206933.4(USH2A):c.2633G>A (p.Arg878His)	LOC122152296, USH2A (R878H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 1146820	NM_206933.4(USH2A):c.2628T>A (p.Gly876=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 550022	NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)	LOC122152296, USH2A (G873R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 557846	NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)	LOC122152296, USH2A	Deletion (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 166516	NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter)	LOC122152296, USH2A (C847*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +3 more	GPathogenic
Select item 229624	NM_206933.4(USH2A):c.2479A>C (p.Asn827His)	LOC122152296, USH2A (N827H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1213940	NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)	LOC122152296, USH2A (K811fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic/Likely pathogenic
Select item 156393	NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)	LOC122152296, USH2A (G805A)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
Select item 949618	NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer)	LOC122152296, USH2A	Microsatellite (nonsense)	Usher syndrome type 2A +2 more	GPathogenic
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

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Items: 26