"Illumina Laboratory Services, Illumina"[submitter] AND "USH2A"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 152

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062094	NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)	USH2A (W4725R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome +11 more	GPathogenic
Select item 3062086	NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)	USH2A (E3052G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 48544	NM_206933.4(USH2A):c.5857+2T>C	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 295404	NM_206933.4(USH2A):c.4627+1205_4627+1208del	USH2A	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa-deafness syndrome +1 more	GUncertain significance
Select item 295405	NM_206933.4(USH2A):c.4627+1142G>T	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 2A +1 more	GBenign
Select item 876910	NM_206933.4(USH2A):c.4627+1133G>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295406	NM_206933.4(USH2A):c.4627+1091T>C	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295407	NM_206933.4(USH2A):c.4627+1038T>C	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign
Select item 874115	NM_206933.4(USH2A):c.4627+981T>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 874116	NM_206933.4(USH2A):c.4627+974T>C	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295408	NM_206933.4(USH2A):c.4627+945AT[3]	USH2A	Microsatellite (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GUncertain significance
Select item 295409	NM_206933.4(USH2A):c.4627+851A>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 875048	NM_206933.4(USH2A):c.4627+850C>T	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295410	NM_206933.4(USH2A):c.4627+813C>T	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295411	NM_206933.4(USH2A):c.4627+801C>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295412	NM_206933.4(USH2A):c.4627+699C>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GBenign
Select item 875974	NM_206933.4(USH2A):c.4627+686T>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 875975	NM_206933.4(USH2A):c.4627+641G>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 295413	NM_206933.4(USH2A):c.4627+610G>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 875976	NM_206933.4(USH2A):c.4627+596A>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295414	NM_206933.4(USH2A):c.4627+589C>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295415	NM_206933.4(USH2A):c.4627+562C>T	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 2A +1 more	GUncertain significance
Select item 295416	NM_206933.4(USH2A):c.4627+561T>C	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 876951	NM_206933.4(USH2A):c.4627+512G>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 874163	NM_206933.4(USH2A):c.4627+510G>A	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 874164	NM_206933.4(USH2A):c.4627+442C>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295417	NM_206933.4(USH2A):c.4627+411A>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 874165	NM_206933.4(USH2A):c.4627+343A>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295418	NM_206933.4(USH2A):c.4627+330A>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 2A +1 more	GUncertain significance
Select item 295419	NM_206933.4(USH2A):c.4627+281T>C	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295420	NM_206933.4(USH2A):c.4627+161T>C	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 2A +1 more	GUncertain significance
Select item 295421	NM_206933.4(USH2A):c.4627+145T>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 876034	NM_206933.4(USH2A):c.4627+48A>T	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 876035	NM_206933.4(USH2A):c.4627+36C>T	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 876036	NM_206933.4(USH2A):c.4627+32G>T	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign
Select item 876037	NM_206933.4(USH2A):c.4627+28A>G	USH2A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 877006	NM_206933.4(USH2A):c.4627+10T>C	USH2A (V1546A)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2A +2 more	GConflicting classifications of pathogenicity
Select item 48520	NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	USH2A (K1529I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 48518	NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 295422	NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)	USH2A (T1482I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 48516	NM_206933.4(USH2A):c.4440C>T (p.Ser1480=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 295423	NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)	USH2A (R1471T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 875140	NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)	USH2A (T1462S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 48515	NM_206933.4(USH2A):c.4371G>A (p.Ser1457=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GBenign
Select item 875141	NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)	USH2A (S1457L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 295424	NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr)	USH2A (A1456T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295425	NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala)	USH2A (V1450A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2353	NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)	USH2A (C1447fs)	Microsatellite (frameshift variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 295426	NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys)	USH2A (E1426K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 295427	NM_206933.4(USH2A):c.4252-36CTTT[7]	USH2A	Microsatellite (intron variant)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
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 295428	NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile)	USH2A, USH2A-AS1 (M1323I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 48510	NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A-AS1, USH2A (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 877053	NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)	USH2A, USH2A-AS1 (R1295L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 295429	NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)	USH2A-AS1, USH2A (R1295Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 166508	NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 729009	NM_206933.4(USH2A):c.3780T>C (p.His1260=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +2 more	GConflicting classifications of pathogenicity
Select item 295430	NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu)	USH2A, USH2A-AS1 (P1242L)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 48506	NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)	USH2A, USH2A-AS1 (I1234V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GConflicting classifications of pathogenicity
Select item 875199	NM_206933.4(USH2A):c.3660A>G (p.Val1220=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166509	NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48505	NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 179130	NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)	USH2A, USH2A-AS1 (C1195F)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
Select item 48503	NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)	USH2A, USH2A-AS1 (I1183fs)	Microsatellite (frameshift variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 295431	NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)	USH2A-AS1, USH2A (P1178A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 194803	NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided +2 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 48500	NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)	USH2A, USH2A-AS1 (S1122A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 295432	NM_206933.4(USH2A):c.3342C>T (p.Asp1114=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 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)	USH2A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 295434	NM_206933.4(USH2A):c.3317-14del	USH2A, USH2A-AS1	Deletion (intron variant)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 295435	NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 552332	NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)	USH2A, USH2A-AS1 (P1059L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 295436	NM_206933.4(USH2A):c.3157+12C>T	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 166512	NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)	USH2A, USH2A-AS1 (L1047V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48495	NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)	USH2A, USH2A-AS1 (H1041Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 179958	NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)	USH2A, USH2A-AS1 (H1015Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 875248	NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)	USH2A, USH2A-AS1 (T946A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	Usher syndrome +5 more	GConflicting classifications of pathogenicity
Select item 550419	NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)	LOC122152296, USH2A (H885Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 166515	NM_206933.4(USH2A):c.2633G>A (p.Arg878His)	LOC122152296, USH2A (R878H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 48488	NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)	LOC122152296, USH2A (C849Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 166517	NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)	USH2A, LOC122152296 (R837Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 286632	NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)	LOC122152296, USH2A (N820S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 156393	NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)	LOC122152296, USH2A (G805A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +23 more	GConflicting classifications of pathogenicity
Select item 295437	NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser)	USH2A (N760S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +1 more	GUncertain significance
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)	USH2A-related condition +5 more	GBenign/Likely benign
Select item 228210	NM_206933.4(USH2A):c.2167+11C>T	USH2A	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48484	NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)	USH2A (G713R)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 48483	NM_206933.4(USH2A):c.2109T>C (p.Asp703=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 48482	NM_206933.4(USH2A):c.2052A>G (p.Gln684=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 874386	NM_206933.4(USH2A):c.2031G>T (p.Gln677His)	USH2A (Q677H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 178582	NM_206933.4(USH2A):c.2001C>T (p.His667=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 875304	NM_206933.4(USH2A):c.1972-4C>T	USH2A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2