C1848634[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166410	NM_206933.4(USH2A):c.*4A>G	USH2A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
Select item 1217401	NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)	USH2A (R5194C)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
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 1358771	NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met)	USH2A (K5192M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
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 179122	NM_206933.4(USH2A):c.15546C>T (p.Asn5182=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 504962	NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)	USH2A (D5176N)	Single nucleotide variant (missense variant)	not specified +3 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 961793	NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)	USH2A (M5167V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2163016	NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)	USH2A (N5160S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 48463	NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)	USH2A (R5143H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign
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 551761	NM_206933.4(USH2A):c.15380del (p.Pro5127fs)	USH2A (P5127fs)	Deletion (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
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 1712003	NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)	USH2A (R5125C)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
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 1149149	NM_206933.4(USH2A):c.15369C>T (p.Val5123=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 971993	NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)	USH2A (R5119Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 1484122	NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)	USH2A (R5116C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1017509	NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)	USH2A (I5115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 555433	NM_206933.4(USH2A):c.15322del (p.Arg5108fs)	USH2A (R5108fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 229623	NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)	USH2A (R5108W)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 48460	NM_206933.4(USH2A):c.15321C>T (p.Pro5107=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2179112	NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)	USH2A (D5103N)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 553864	NM_206933.4(USH2A):c.15298-18_15301dup	USH2A	Duplication (splice acceptor variant)	Usher syndrome type 2A +2 more	GUncertain significance
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 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 556916	NM_206933.4(USH2A):c.15200del (p.Ile5067fs)	USH2A (I5067fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 1297131	NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)	USH2A (L5063P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 1800774	NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)	USH2A (F5058L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1312600	NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)	USH2A (I5057F)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 515188	NM_206933.4(USH2A):c.15144G>C (p.Ala5048=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GLikely benign
Select item 48457	NM_206933.4(USH2A):c.15144G>A (p.Ala5048=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 228206	NM_206933.4(USH2A):c.15105A>C (p.Thr5035=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 48456	NM_206933.4(USH2A):c.15102C>T (p.Ser5034=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
Select item 1209712	NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)	USH2A (S5032N)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 48455	NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)	USH2A (R5031W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 48454	NM_206933.4(USH2A):c.15090G>A (p.Ser5030=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
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 48453	NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)	USH2A (K5026E)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 968415	NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)	USH2A (T5015I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 48452	NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)	USH2A (T5013I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
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 2173643	NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)	USH2A (E5001K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 177792	NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)	USH2A (I4996F)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 555201	NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)	USH2A (F4993fs)	Deletion (frameshift variant)	Retinitis pigmentosa +4 more	GPathogenic
Select item 48451	NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)	USH2A (A4987V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
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 48450	NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2056685	NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)	USH2A (V4973M)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 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 48449	NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	USH2A (R4971*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 1082877	NM_206933.4(USH2A):c.14904C>T (p.Asp4968=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 48448	NM_206933.4(USH2A):c.14901C>T (p.Thr4967=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
Select item 1440511	NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)	USH2A (E4963fs)	Duplication (frameshift variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 666778	NM_206933.4(USH2A):c.14838G>T (p.Val4946=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 289317	NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe)	USH2A (L4944F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 48446	NM_206933.4(USH2A):c.14817G>A (p.Ser4939=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
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 553701	NM_206933.4(USH2A):c.14791+2T>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 813115	NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)	USH2A (E4921*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +2 more	GPathogenic/Likely pathogenic
Select item 178571	NM_206933.4(USH2A):c.14754G>A (p.Thr4918=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GBenign/Likely benign
Select item 1217342	NM_206933.4(USH2A):c.14747del (p.Gly4916fs)	USH2A (G4916fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 179565	NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser)	USH2A (T4888S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1443074	NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala)	USH2A (T4879A)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
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 793969	NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +2 more	GLikely benign
Select item 1707258	NM_206933.4(USH2A):c.14595A>G (p.Gln4865=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +2 more	GLikely benign
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 558160	NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)	USH2A (G4857A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 1005570	NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)	USH2A (N4856S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +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 48440	NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)	USH2A (T4839M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 48439	NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)	USH2A (G4838E)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 228205	NM_206933.4(USH2A):c.14511C>T (p.Ile4837=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 48438	NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)	USH2A	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 1704872	NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)	USH2A (H4825Q)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 177925	NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GBenign/Likely benign
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 1197374	NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe)	USH2A (S4802F)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 556553	NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs)	USH2A (Y4801fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 972620	NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)	USH2A (N4800D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 816987	NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter)	USH2A (Q4789*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +1 more	GPathogenic
Select item 48436	NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp)	USH2A (A4778D)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign
Select item 929930	NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)	USH2A (H4776Q)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 48435	NM_206933.4(USH2A):c.14322C>T (p.Ser4774=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
Select item 48434	NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)	USH2A (S4772F)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign/Likely benign
Select item 48433	NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)	USH2A (G4763R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 179439	NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)	USH2A (Q4750*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic
Select item 870919	NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)	USH2A (V4745fs)	Duplication (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic
Select item 48432	NM_206933.4(USH2A):c.14226G>A (p.Thr4742=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 48430	NM_206933.4(USH2A):c.14184C>T (p.Cys4728=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GLikely benign
Select item 48429	NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter)	USH2A (W4727*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic

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