"PreventionGenetics, part of Exact Sciences"[submitter] AND "USH2A"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282144	NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)	USH2A (A5165G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 48454	NM_206933.4(USH2A):c.15090G>A (p.Ser5030=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +4 more	GLikely benign
Select item 177760	NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	USH2A (R4935*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 1103387	NM_206933.4(USH2A):c.14292C>T (p.Ile4764=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 517427	NM_206933.4(USH2A):c.14100C>T (p.Ser4700=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 48421	NM_206933.4(USH2A):c.13704C>T (p.Phe4568=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +5 more	GLikely benign
Select item 424929	NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)	USH2A (V4550G)	Single nucleotide variant (missense variant)	Usher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1119118	NM_206933.4(USH2A):c.13620G>A (p.Leu4540=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 806349	NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)	USH2A (R4495H)	Single nucleotide variant (missense variant)	USH2A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 198341	NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)	USH2A (R4493H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 48413	NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 558585	NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	USH2A (Q4371fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 860622	NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)	USH2A (D4320H)	Single nucleotide variant (missense variant)	USH2A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 750902	NM_206933.4(USH2A):c.12918C>T (p.Leu4306=)	USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder +2 more	GLikely benign
Select item 550300	NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)	USH2A (E4264K)	Single nucleotide variant (missense variant)	USH2A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 48403	NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)	USH2A	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 48400	NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)	USH2A (I4186T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 166435	NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	USH2A (T4169A)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 418537	NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)	USH2A (E4051fs)	Insertion (frameshift variant)	USH2A-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 229616	NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)	USH2A (A4049T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1184582	NM_206933.4(USH2A):c.12066+4409C>G	USH2A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 166439	NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)	USH2A (V4016M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 48387	NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GBenign
Select item 48384	NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome type 3A +10 more	GPathogenic
Select item 48381	NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GBenign
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)	not specified +4 more	GBenign/Likely benign
Select item 281728	NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)	USH2A (V3823I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 811930	NM_206933.4(USH2A):c.11390-10C>T	USH2A	Single nucleotide variant (intron variant)	USH2A-related disorder +4 more	GLikely benign
Select item 48367	NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)	USH2A (E3731Q)	Single nucleotide variant (missense variant)	not specified +2 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 864738	NM_206933.4(USH2A):c.10734T>C (p.Ser3578=)	USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder +1 more	GLikely benign
Select item 48344	NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)	USH2A (E3411A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 197932	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A (C3358Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +6 more	GPathogenic/Likely pathogenic
Select item 179253	NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 48631	NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)	USH2A (N3199D)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GBenign
Select item 228418	NM_206933.4(USH2A):c.9570+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Rare genetic deafness +5 more	GPathogenic
Select item 48623	NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)	USH2A (T3115A)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign
Select item 1157224	NM_206933.4(USH2A):c.9141T>C (p.Asn3047=)	USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder +1 more	GLikely benign
Select item 227148	NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)	USH2A (R3037H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3054019	NM_206933.4(USH2A):c.9055+3G>A	USH2A	Single nucleotide variant (intron variant)	USH2A-related disorder	GLikely benign
Select item 1896089	NM_206933.4(USH2A):c.8978A>G (p.Tyr2993Cys)	USH2A (Y2993C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 166467	NM_206933.4(USH2A):c.8937A>G (p.Val2979=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 229628	NM_206933.4(USH2A):c.8845+6_8845+9del	USH2A	Microsatellite (splice donor variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1125629	NM_206933.4(USH2A):c.8826C>T (p.Asp2942=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 197510	NM_206933.4(USH2A):c.8682-9A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48607	NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)	USH2A (L2886F)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 48606	NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)	USH2A (R2875Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 48599	NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)	USH2A (F2786S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 848662	NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)	USH2A (W2744C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1059568	NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe)	USH2A (L2576F)	Single nucleotide variant (missense variant)	USH2A-related disorder +1 more	GUncertain significance
Select item 505133	NM_206933.4(USH2A):c.7617G>A (p.Pro2539=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 197447	NM_206933.4(USH2A):c.7595-3C>G	USH2A	Single nucleotide variant (intron variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 48585	NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 48584	NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1626661	NM_206933.4(USH2A):c.7311C>T (p.Gly2437=)	USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder +1 more	GLikely benign
Select item 558501	NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)	USH2A (R2323*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 137896	NM_206933.4(USH2A):c.6957+19A>G	USH2A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 384319	NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	USH2A (G2313C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +6 more	GConflicting classifications of pathogenicity
Select item 209202	NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	USH2A (G2224C)	Single nucleotide variant (missense variant)	USH2A-related disorder +6 more	GUncertain significance
Select item 228220	NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)	USH2A (I2189V)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 48562	NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)	USH2A (I2169T)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GBenign
Select item 739654	NM_206933.4(USH2A):c.6387A>G (p.Thr2129=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
Select item 228218	NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)	USH2A (A2122S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 48559	NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)	USH2A (H2116R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 517292	NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)	USH2A (R2001C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 48547	NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	USH2A (Y1992C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 178652	NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)	USH2A (P1978S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 3037018	NM_206933.4(USH2A):c.5896T>C (p.Leu1966=)	USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder	GLikely benign
Select item 263276	NM_206933.4(USH2A):c.5857+17A>C	USH2A, USH2A-AS2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 766342	NM_206933.4(USH2A):c.5829T>C (p.Asp1943=)	USH2A-AS2, USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1109874	NM_206933.4(USH2A):c.5643C>T (p.Ser1881=)	USH2A, USH2A-AS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 178579	NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)	USH2A, USH2A-AS2 (N1875S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48535	NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)	USH2A, USH2A-AS2 (G1861S)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 552599	NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)	USH2A, USH2A-AS2 (G1723R)	Single nucleotide variant (missense variant)	USH2A-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 228215	NM_206933.4(USH2A):c.5130C>T (p.Pro1710=)	USH2A, USH2A-AS2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1103396	NM_206933.4(USH2A):c.5028A>G (p.Val1676=)	USH2A, USH2A-AS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 48527	NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)	USH2A, USH2A-AS2	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GBenign
Select item 179773	NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	USH2A, USH2A-AS2 (G1671D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic FDA Recognized database
Select item 48525	NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)	USH2A, USH2A-AS2 (I1665T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2631249	NM_206933.4(USH2A):c.4873G>A (p.Gly1625Arg)	USH2A (G1625R)	Single nucleotide variant (missense variant)	USH2A-related disorder	GUncertain significance
Select item 195788	NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)	USH2A (G1599D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 550873	NM_206933.4(USH2A):c.4397-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +4 more	GLikely pathogenic
Select item 263275	NM_206933.4(USH2A):c.4335T>G (p.Thr1445=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GLikely benign
Select item 991450	NM_206933.4(USH2A):c.4252-15dup	USH2A	Duplication (intron variant)	USH2A-related disorder +3 more	GBenign/Likely benign
Select item 178671	NM_206933.4(USH2A):c.4252-36CTTT[5]	USH2A	Microsatellite (intron variant)	Retinitis Pigmentosa, Recessive +5 more	GBenign/Likely benign
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A, USH2A-AS1 (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 194908	NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 48508	NM_206933.4(USH2A):c.3812-8T>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GBenign
Select item 755320	NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)	USH2A-AS1, USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 166511	NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	USH2A, USH2A-AS1 (G1132D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 295433	NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)	USH2A, USH2A-AS1 (I1107S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 48492	NM_206933.4(USH2A):c.2829C>A (p.Gly943=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1649440	NM_206933.4(USH2A):c.2799G>A (p.Gln933=)	LOC122152296, USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Rare genetic deafness +22 more	GConflicting classifications of pathogenicity
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48486	NM_206933.4(USH2A):c.2256T>C (p.His752=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +5 more	GBenign/Likely benign

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