C1848634[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1011559	NM_206933.4(USH2A):c.15582C>T (p.Arg5194=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1045970	NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)	USH2A (S5188T)	Single nucleotide variant (missense variant)	not provided	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)	Usher syndrome type 2A +3 more	GBenign
Select item 287641	NM_206933.4(USH2A):c.15520-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 1036495	NM_206933.4(USH2A):c.15506A>G (p.His5169Arg)	USH2A (H5169R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961793	NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)	USH2A (M5167V)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 48465	NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)	USH2A (I5166V)	Single nucleotide variant (missense variant)	not provided +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 793968	NM_206933.4(USH2A):c.15432C>T (p.Ser5144=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 48463	NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)	USH2A (R5143H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +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 801608	NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)	USH2A (P5127L)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 48462	NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)	USH2A (I5126T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign/Likely benign
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 971993	NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)	USH2A (R5119Q)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 1007668	NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)	USH2A (R5119W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 283871	NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	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 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 764364	NM_206933.4(USH2A):c.15265T>C (p.Leu5089=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1038950	NM_206933.4(USH2A):c.15249G>C (p.Gln5083His)	USH2A (Q5083H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014883	NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu)	USH2A (Q5083L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 143177	NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)	USH2A (P5078R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1073006	NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)	USH2A (E5070*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1071761	NM_206933.4(USH2A):c.15199del (p.Ile5067fs)	USH2A (I5067fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1051866	NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr)	USH2A (A5048T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047078	NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu)	USH2A (M5047L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856648	NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 859968	NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)	USH2A (S5030L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 48453	NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)	USH2A (K5026E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +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 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 1024750	NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)	USH2A (P5007L)	Single nucleotide variant (missense variant)	not provided +1 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 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 989650	NM_206933.4(USH2A):c.14961G>T (p.Ala4987=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A	GUncertain significance
Select item 754770	NM_206933.4(USH2A):c.14961G>A (p.Ala4987=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 961823	NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)	USH2A (G4976S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GConflicting classifications of pathogenicity
Select item 989651	NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly)	USH2A (S4975G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 730187	NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 861538	NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)	USH2A (G4959D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720548	NM_206933.4(USH2A):c.14859C>T (p.Asp4953=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 177760	NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)	USH2A (R4935*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic
Select item 1038324	NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys)	USH2A (E4921K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286366	NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 177746	NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)	USH2A (T4918M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 950722	NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr)	USH2A (A4894T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 48445	NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 989652	NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)	USH2A (K4886N)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 793969	NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1059659	NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr)	USH2A (C4870Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842339	NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)	USH2A (H4867L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 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 48444	NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)	USH2A (R4848Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GBenign
Select item 1042327	NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys)	USH2A (S4846C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 766094	NM_206933.4(USH2A):c.14532G>A (p.Thr4844=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1007233	NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys)	USH2A (T4844K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48442	NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	USH2A (L4840P)	Single nucleotide variant (missense variant)	Hearing impairment +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)	not specified +4 more	GBenign
Select item 752932	NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg)	USH2A (G4838R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 48438	NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +4 more	GBenign
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 968259	NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)	USH2A (N4812Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198366	NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	USH2A (A4807T)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 806348	NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)	USH2A (V4805I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 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 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 812447	NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)	USH2A (E4784K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 970457	NM_206933.4(USH2A):c.14344-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1014469	NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)	USH2A (E4779K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1047575	NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)	USH2A (G4763E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 177913	NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)	USH2A (G4759E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
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 862614	NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg)	USH2A (T4742R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 48428	NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)	USH2A (E4701K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 949983	NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)	USH2A (S4696P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48427	NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	USH2A (G4692R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign/Likely benign
Select item 289390	NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 667354	NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)	USH2A (Y4690C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 954530	NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)	USH2A (P4660Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1016483	NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn)	USH2A (T4652N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848821	NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)	USH2A (P4636L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989653	NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys)	USH2A (E4629K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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