"Eurofins Ntd Llc (ga)"[submitter] AND "USH2A"[gene] - 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 48468	NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)	USH2A (S5188G)	Single nucleotide variant (missense variant)	Usher syndrome	GBenignFDA Recognized database
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 287641	NM_206933.4(USH2A):c.15520-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 282144	NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)	USH2A (A5165G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benignFDA Recognized database
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenignFDA Recognized database
Select item 48463	NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)	USH2A (R5143H)	Single nucleotide variant (missense variant)	not specified +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 48462	NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)	USH2A (I5126T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 284545	NM_206933.4(USH2A):c.15306C>G (p.Ala5102=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 48459	NM_206933.4(USH2A):c.15297+3A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GBenignFDA Recognized database
Select item 48455	NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)	USH2A (R5031W)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign/Likely benign
Select item 48453	NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)	USH2A (K5026E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 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 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)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 48445	NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 516848	NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)	USH2A (S4881T)	Single nucleotide variant (missense variant)	not provided +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)	not specified +4 more	GBenign
Select item 48441	NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +1 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 198365	NM_206933.4(USH2A):c.14502_14503del (p.Pro4835fs)	USH2A (P4835fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 48438	NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 438016	NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)	USH2A (T4809I)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 198366	NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	USH2A (A4807T)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significanceFDA Recognized database
Select item 283856	NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)	USH2A (W4725*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 48427	NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)	USH2A (G4692R)	Single nucleotide variant (missense variant)	not specified +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 48422	NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)	USH2A (R4570H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 498010	NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter)	USH2A (Y4565*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 287075	NM_206933.4(USH2A):c.13586C>T (p.Pro4529Leu)	USH2A (P4529L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498883	NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)	USH2A (G4516A)	Single nucleotide variant (missense variant)	not specified +1 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 +3 more	GConflicting classifications of pathogenicity
Select item 48419	NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 48418	NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 501245	NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)	USH2A (D4448G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 198344	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A (T4439I)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 48415	NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)	USH2A (V4433L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GBenign
Select item 438011	NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)	USH2A (T4425M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 198342	NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys)	USH2A (Y4417C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 593107	NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)	USH2A (A4400S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 48413	NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 48412	NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	USH2A (S4377*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 558585	NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	USH2A (Q4371fs)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 179743	NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)	USH2A (A4366V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198340	NM_206933.4(USH2A):c.13078A>G (p.Ser4360Gly)	USH2A (S4360G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198343	NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)	USH2A (L4333V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 229619	NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)	USH2A (S4275T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 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 177993	NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 48402	NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)	USH2A (Q4203R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GBenign
Select item 178573	NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)	USH2A (W4200G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenicFDA Recognized database
Select item 166435	NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	USH2A (T4169A)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benignFDA Recognized database
Select item 285037	NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly)	USH2A (E4152G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48399	NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg)	USH2A (W4149R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GBenign
Select item 284008	NM_206933.4(USH2A):c.12443T>C (p.Leu4148Pro)	USH2A (L4148P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48397	NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)	USH2A (R4115C)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenicFDA Recognized database
Select item 96665	NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)	USH2A (N4079fs)	Microsatellite (frameshift variant)	Usher syndrome type 2A +3 more	GPathogenic
Select item 290980	NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)	USH2A (V4043G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 48391	NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 596457	NM_206933.4(USH2A):c.12067-4A>G	USH2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 166439	NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)	USH2A (V4016M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 48387	NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 48386	NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 48385	NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)	USH2A (T3976M)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
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)	not provided +10 more	GPathogenic
Select item 48380	NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)	USH2A (P3893T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 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
Select item 198307	NM_206933.4(USH2A):c.11549-5dup	USH2A	Duplication (intron variant)	not provided +3 more	GBenign
Select item 177774	NM_206933.4(USH2A):c.11549-5del	USH2A	Deletion (intron variant)	not specified +3 more	GBenign
Select item 594997	NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)	USH2A (P3836S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 281728	NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)	USH2A (V3823I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 595855	NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly)	USH2A (R3744G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 48368	NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)	USH2A (N3742S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 593106	NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly)	USH2A (E3730G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198009	NM_206933.4(USH2A):c.11124C>G (p.Pro3708=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 501315	NM_206933.4(USH2A):c.11047+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 593319	NM_206933.4(USH2A):c.10928A>G (p.His3643Arg)	USH2A (H3643R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501010	NM_206933.4(USH2A):c.10901A>G (p.His3634Arg)	USH2A (H3634R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48361	NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)	USH2A (I3620V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
Select item 48359	NM_206933.4(USH2A):c.10836C>A (p.Val3612=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 39 +3 more	GBenign
Select item 177745	NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)	USH2A (S3609I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 48358	NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)	USH2A (P3590L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287390	NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)	USH2A (R3538Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 178577	NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)	USH2A (P3504A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 593854	NM_206933.4(USH2A):c.10497T>C (p.Pro3499=)	USH2A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 48346	NM_206933.4(USH2A):c.10470G>T (p.Val3490=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 596149	NM_206933.4(USH2A):c.10388-17_10388-7del	USH2A	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 209203	NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	USH2A (E3448K)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GPathogenic/Likely pathogenic
Select item 197944	NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)	USH2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598477	NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)	USH2A	Indel (inframe_indel)	not provided +3 more	GUncertain significance
Select item 48344	NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)	USH2A (E3411A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign

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