"Fulgent Genetics, Fulgent Genetics"[submitter] AND "USH2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553718	NM_206933.4(USH2A):c.15577del (p.Glu5193fs)	USH2A (E5193fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 48468	NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)	USH2A (S5188G)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 969763	NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)	USH2A (A5183T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48467	NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 48465	NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	USH2A (I5166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 178568	NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)	USH2A (R5143C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GBenign/Likely benign
Select item 48462	NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)	USH2A (I5126T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 951601	NM_206933.4(USH2A):c.15371del (p.Leu5124fs)	USH2A (L5124fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 48461	NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)	USH2A (C5122R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GConflicting classifications of pathogenicity
Select item 166415	NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)	USH2A (P5094L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 971154	NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)	USH2A (T4986M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 552512	NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)	USH2A (R4972C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 177760	NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	USH2A (R4935*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +4 more	GPathogenic
Select item 1303297	NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly)	USH2A (C4878G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 48444	NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)	USH2A (R4848Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 1209711	NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)	USH2A (R4848W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 48442	NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	USH2A (L4840P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GUncertain significance
Select item 1457880	NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)	USH2A (S4830*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 504509	NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)	USH2A (P4818L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GPathogenic/Likely pathogenic
Select item 1041351	NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)	USH2A (P4732S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 229621	NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)	USH2A (G4731R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 852059	NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)	USH2A (A4718E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 48427	NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	USH2A (G4692R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 48426	NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)	USH2A (A4678fs)	Duplication	not provided +3 more	GPathogenic
Select item 48423	NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)	USH2A (S4588Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 229620	NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)	USH2A (K4578E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1019805	NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)	USH2A (A4542G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1008496	NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)	USH2A (Y4505C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 844463	NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)	USH2A (R4495C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 969923	NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)	USH2A (R4493C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 1016248	NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)	USH2A (I4474M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 198344	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A (T4439I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1677152	NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)	USH2A (W4438R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 949836	NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)	USH2A (L4323F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48407	NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)	USH2A (H4248R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 850897	NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)	USH2A (T4234M)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 865757	NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)	USH2A (R4187H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 866067	NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)	USH2A (R4120H)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 805743	NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)	USH2A (R4115H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GConflicting classifications of pathogenicity
Select item 48396	NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	USH2A (S4111F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 1520801	NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)	USH2A (G4106R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48390	NM_206933.4(USH2A):c.12067-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +4 more	GPathogenic
Select item 198318	NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	USH2A (Q3959fs)	Microsatellite (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Retinal dystrophy +10 more	GPathogenic
Select item 178574	NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)	USH2A (E3939K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 813344	NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)	USH2A (W3918*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 more	GPathogenic
Select item 236537	NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)	USH2A (R3905C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 48378	NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)	USH2A (M3868V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 48377	NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)	USH2A (T3835I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 48375	NM_206933.4(USH2A):c.11411del (p.Pro3804fs)	USH2A (P3804fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 1492289	NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)	USH2A (D3736N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 852750	NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)	USH2A (V3712I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 178647	NM_206933.4(USH2A):c.11048-15C>T	USH2A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
Select item 225512	NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)	USH2A (T3667P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 179843	NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)	USH2A (T3635N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 48360	NM_206933.4(USH2A):c.10851C>T (p.Asn3617=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
Select item 48356	NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)	USH2A (C3575Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 48355	NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	USH2A (T3571M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +7 more	GPathogenic/Likely pathogenic
Select item 229614	NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)	USH2A (R3522G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 836001	NM_206933.4(USH2A):c.10182+5T>C	USH2A	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
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 552620	NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)	USH2A (G3308S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 226441	NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	USH2A (C3307W)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48635	NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)	USH2A (E3305D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GBenign/Likely benign
Select item 438035	NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	USH2A (H3287fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 179132	NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)	USH2A (C3281F)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1470450	NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)	USH2A (M3271I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 555916	NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)	USH2A (Q3157*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 178645	NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
Select item 73556	NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	USH2A (L3145F)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 558652	NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)	USH2A (R3119C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 505625	NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)	USH2A (P3114S)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 48618	NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)	USH2A (E3088K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 265980	NM_206933.4(USH2A):c.9258+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 48607	NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)	USH2A (L2886F)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 970261	NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)	USH2A (P2870L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48604	NM_206933.4(USH2A):c.8559-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 555751	NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)	USH2A (R2853*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 178648	NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)	USH2A (V2820I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
Select item 48597	NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	USH2A (A2774T)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 1411191	NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)	USH2A (T2674N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 560527	NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)	USH2A (N2651D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 801613	NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)	USH2A (W2644*)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 551583	NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)	USH2A (H2589D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 48586	NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)	USH2A (N2560S)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
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 429973	NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)	USH2A (N2514H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 1297564	NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)	USH2A (R2460H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 48581	NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	USH2A (S2445F)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 1462637	NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)	USH2A (N2413T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1038947	NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)	USH2A (L2395F)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 1326780	NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)	USH2A (G2367E)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 225513	NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)	USH2A (N2334D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 558501	NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)	USH2A (R2323*)	Single nucleotide variant (nonsense)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1474379	NM_206933.4(USH2A):c.6957+1G>C	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A +2 more	GLikely pathogenic
Select item 166476	NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 374591	NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)	USH2A (G2295R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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