"Blueprint Genetics"[submitter] AND "USH2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801608	NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)	USH2A (P5127L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 845053	NM_206933.4(USH2A):c.15297+1G>C	USH2A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556916	NM_206933.4(USH2A):c.15200del (p.Ile5067fs)	USH2A (I5067fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 552090	NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)	USH2A (S5060P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 865970	NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs)	USH2A (L5041fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 620106	NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)	USH2A (S5030*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +4 more	GPathogenic
Select item 813116	NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)	USH2A (T5022fs)	Indel (frameshift variant)	Usher syndrome type 2A +5 more	GPathogenic/Likely pathogenic
Select item 857774	NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)	USH2A (Q5010L)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 553406	NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)	USH2A (T5006M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 555201	NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)	USH2A (F4993fs)	Deletion (frameshift variant)	Retinitis pigmentosa +4 more	GPathogenic
Select item 866362	NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)	USH2A (L4957fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 100610	NM_206933.4(USH2A):c.14792-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 866233	NM_206933.4(USH2A):c.14791+5G>T	USH2A	Single nucleotide variant (intron variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 817032	NM_206933.4(USH2A):c.14787del (p.Glu4930fs)	USH2A (E4930fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866064	NM_206933.4(USH2A):c.14748C>T (p.Gly4916=)	USH2A	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 866663	NM_206933.4(USH2A):c.14649del (p.Ile4883fs)	USH2A (I4883fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 549961	NM_206933.4(USH2A):c.14582+1G>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +3 more	GLikely pathogenic
Select item 866574	NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)	USH2A (M4853V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 553162	NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)	USH2A (L4795R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 866070	NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)	USH2A (Q4790P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 866724	NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys)	USH2A (Q4790K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866982	NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro)	USH2A (S4747P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 429215	NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	USH2A (A4740D)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 554236	NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter)	USH2A (Q4711*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic
Select item 866573	NM_206933.4(USH2A):c.14125dup (p.Glu4709fs)	USH2A (E4709fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 851480	NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)	USH2A (Q4680*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866969	NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter)	USH2A (Y4673*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 865849	NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs)	USH2A (G4648fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 143174	NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)	USH2A (G4616V)	Single nucleotide variant (missense variant)	Usher syndrome +3 more	GConflicting classifications of pathogenicity
Select item 557745	NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter)	USH2A (R4608*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 556918	NM_206933.4(USH2A):c.13811+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 178937	NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	USH2A (H4603P)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 866445	NM_206933.4(USH2A):c.13803A>T (p.Pro4601=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550628	NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)	USH2A (S4593L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
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 865801	NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)	USH2A (P4532fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 866149	NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)	USH2A (R4526Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438014	NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A (R4526*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 865805	NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)	USH2A (V4523F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 806349	NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)	USH2A (R4495H)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 198341	NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)	USH2A (R4493H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 143173	NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp)	USH2A (G4489D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 667358	NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)	USH2A (Y4477C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 867103	NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)	USH2A (G4472S)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 440396	NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)	USH2A (V4454D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 866208	NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser)	USH2A (P4450S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 438013	NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	USH2A	Indel (inframe_indel)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 554155	NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	USH2A (M4447V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
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 48416	NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)	USH2A (W4438*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 866731	NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp)	USH2A (A4423D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 556334	NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)	USH2A (L4406P)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 558124	NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)	USH2A (G4403fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 841656	NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)	USH2A (P4378L)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 798105	NM_206933.4(USH2A):c.13071A>C (p.Ser4357=)	USH2A	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 143172	NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)	USH2A (T4337M)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 866132	NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866854	NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser)	USH2A (F4311S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 865815	NM_206933.4(USH2A):c.12913del (p.Met4305fs)	USH2A (M4305fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867102	NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser)	USH2A (R4299S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 48409	NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	USH2A (N4292D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic FDA Recognized database
Select item 48408	NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	USH2A (Q4290*)	Single nucleotide variant (nonsense)	Rare genetic deafness +4 more	GPathogenic
Select item 550300	NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)	USH2A (E4264K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 865933	NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter)	USH2A (Q4235*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
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 554725	NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)	USH2A (W4233fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 372544	NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter)	USH2A (Q4231*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556604	NM_206933.4(USH2A):c.12602del (p.Gly4201fs)	USH2A (G4201fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GLikely pathogenic
Select item 867067	NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)	USH2A (C4194Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +7 more	GConflicting classifications of pathogenicity
Select item 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
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 48400	NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)	USH2A (I4186T)	Single nucleotide variant (missense variant)	not provided +2 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 424931	NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)	USH2A (C4140F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 393047	NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)	USH2A (G4139R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 866897	NM_206933.4(USH2A):c.12409del (p.Arg4137fs)	USH2A (R4137fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 48397	NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)	USH2A (R4115C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 865868	NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)	USH2A (N4101del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 866677	NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)	USH2A (Y4100*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 48392	NM_206933.4(USH2A):c.12295-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 378847	NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)	USH2A (G4095D)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 867127	NM_206933.4(USH2A):c.12252del (p.Leu4085fs)	USH2A (L4085fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 96665	NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)	USH2A (N4079fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 553479	NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)	USH2A (E4078*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
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)	Usher syndrome type 2A +5 more	GConflicting classifications of pathogenicity
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 866357	NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)	USH2A (D4008N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 48388	NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)	USH2A (W3985*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 866259	NM_206933.4(USH2A):c.11895del (p.Gln3966fs)	USH2A (Q3966fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
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 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 424932	NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)	USH2A (A3865E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 289232	NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg)	USH2A (T3862R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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