ClinVar for Gene (Select 7399) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369659	NM_206933.4(USH2A):c.2372A>T (p.Asn791Ile)	LOC122152296, USH2A (N791I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369214	NM_206933.4(USH2A):c.3696G>T (p.Leu1232Phe)	USH2A, USH2A-AS1 (L1232F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367335	NM_206933.4(USH2A):c.2114A>G (p.Asp705Gly)	USH2A (D705G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365061	NM_206933.4(USH2A):c.6166C>T (p.Pro2056Ser)	USH2A (P2056S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364604	NM_206933.4(USH2A):c.3794C>T (p.Pro1265Leu)	USH2A, USH2A-AS1 (P1265L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363210	NM_206933.4(USH2A):c.12434C>T (p.Pro4145Leu)	USH2A (P4145L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361687	NM_206933.4(USH2A):c.4748T>C (p.Phe1583Ser)	USH2A (F1583S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360855	NM_206933.4(USH2A):c.5824A>G (p.Ser1942Gly)	USH2A (S1942G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358943	NM_206933.4(USH2A):c.6223del (p.Trp2075fs)	USH2A (W2075fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 3357071	NM_206933.4(USH2A):c.4648A>C (p.Thr1550Pro)	USH2A (T1550P)	Single nucleotide variant (missense variant)	USH2A-related disorder	GUncertain significance
Select item 3355643	NM_206933.4(USH2A):c.15158T>A (p.Ile5053Asn)	USH2A (I5053N)	Single nucleotide variant (missense variant)	USH2A-related disorder	GUncertain significance
Select item 3349561	NM_206933.4(USH2A):c.3207_3261dup (p.Ser1088delinsTyrGlnSerLeuLeuGluSerThrTer)	USH2A, USH2A-AS1	Duplication (nonsense)	USH2A-related disorder	GPathogenic
Select item 3347893	NM_206933.4(USH2A):c.13746A>G (p.Ile4582Met)	USH2A (I4582M)	Single nucleotide variant (missense variant)	USH2A-related disorder	GUncertain significance
Select item 3345323	NM_206933.4(USH2A):c.2382del (p.Cys795fs)	LOC122152296, USH2A (C795fs)	Deletion (frameshift variant)	USH2A-related disorder	GPathogenic
Select item 3344719	NM_206933.4(USH2A):c.14167A>C (p.Ser4723Arg)	USH2A (S4723R)	Single nucleotide variant (missense variant)	USH2A-related disorder	GUncertain significance
Select item 3343967	NM_206933.4(USH2A):c.1150del (p.Tyr384fs)	USH2A (Y384fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 3343387	NM_206933.4(USH2A):c.6255_6290del (p.Thr2086_Ile2097del)	USH2A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3342332	NM_206933.4(USH2A):c.13741C>T (p.His4581Tyr)	USH2A (H4581Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341821	NM_206933.4(USH2A):c.1167C>A (p.Phe389Leu)	USH2A (F389L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341723	NM_206933.4(USH2A):c.7803A>C (p.Glu2601Asp)	USH2A (E2601D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340834	NM_206933.4(USH2A):c.13121T>A (p.Val4374Glu)	USH2A (V4374E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340719	NM_206933.4(USH2A):c.5813G>A (p.Gly1938Asp)	USH2A, USH2A-AS2 (G1938D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339991	NM_206933.4(USH2A):c.5522G>C (p.Gly1841Ala)	USH2A, USH2A-AS2 (G1841A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339961	NM_206933.4(USH2A):c.3839T>C (p.Met1280Thr)	USH2A, USH2A-AS1 (M1280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339836	NM_206933.4(USH2A):c.1256G>A (p.Cys419Tyr)	USH2A (C419Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339164	NM_206933.4(USH2A):c.1551-504C>T	USH2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338933	NM_206933.4(USH2A):c.7783G>A (p.Ala2595Thr)	USH2A (A2595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338159	NM_206933.4(USH2A):c.9258+1466_9371+1991del	USH2A	Deletion (splice acceptor variant +1 more)	Visual impairment	GLikely pathogenic
Select item 3338154	NM_206933.4(USH2A):c.11389+2566A>G	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338153	NM_206933.4(USH2A):c.11711+2233C>T	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338152	NM_206933.4(USH2A):c.652-26660C>T	USH2A	Single nucleotide variant (intron variant)	Visual impairment	GUncertain significance
Select item 3338151	NM_206933.4(USH2A):c.6050-6893T>A	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338150	NM_206933.4(USH2A):c.4627+32137G>T	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338149	NM_206933.4(USH2A):c.4396+5913C>G	USH2A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338148	NM_206933.4(USH2A):c.6806-4524A>T	USH2A	Single nucleotide variant (intron variant)	Visual impairment	GUncertain significance
Select item 3338036	NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)	USH2A (Y3840*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3338019	NM_206933.4(USH2A):c.1546G>A (p.Gly516Arg)	USH2A (G516R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3337775	NM_206933.4:c.8462_12066+14961dup	USH2A	Duplication	not provided	GPathogenic
Select item 3337774	NM_206933.4:c.4628-30483_6325+8825del	USH2A	Deletion	not provided	GPathogenic
Select item 3336573	NM_206933.4(USH2A):c.8395G>C (p.Gly2799Arg)	USH2A (G2799R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336272	NM_206933.4(USH2A):c.949C>T (p.Arg317Trp)	USH2A (R317W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331292	NM_206933.4(USH2A):c.12203G>A (p.Gly4068Glu)	USH2A (G4068E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331290	NM_206933.4(USH2A):c.2284C>T (p.His762Tyr)	USH2A (H762Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331289	NM_206933.4(USH2A):c.7450G>A (p.Glu2484Lys)	USH2A (E2484K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331287	NM_206933.4(USH2A):c.12661A>G (p.Asn4221Asp)	USH2A (N4221D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331286	NM_206933.4(USH2A):c.10058C>A (p.Pro3353Gln)	USH2A (P3353Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331285	NM_206933.4(USH2A):c.7406A>G (p.Tyr2469Cys)	USH2A (Y2469C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331284	NM_206933.4(USH2A):c.13184A>C (p.Asn4395Thr)	USH2A (N4395T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331281	NM_206933.4(USH2A):c.6874C>A (p.Arg2292Ser)	USH2A (R2292S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256574	NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)	USH2A (C1452*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3254934	NM_206933.4(USH2A):c.7040_7043delinsGAAAAGGGC (p.Val2347fs)	USH2A (V2347fs)	Indel (frameshift variant)	Retinitis pigmentosa 39	GPathogenic
Select item 3252202	NM_206933.4(USH2A):c.2076T>A (p.Ser692Arg)	USH2A (S692R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251386	NM_206933.4(USH2A):c.12944C>T (p.Thr4315Ile)	USH2A (T4315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250408	NM_206933.4(USH2A):c.13564C>T (p.Leu4522Phe)	USH2A (L4522F)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3248092	NC_000001.10:g.(?_216219884)_(216227803_?)del	USH2A	Deletion	not provided	GLikely pathogenic
Select item 3248091	NC_000001.10:g.(?_216461143)_(216465592_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248090	NC_000001.10:g.(?_216595257)_(216601343_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248089	NC_000001.10:g.(?_215847294)_(215848756_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248088	NC_000001.10:g.(?_216049419)_(216051126_?)del	USH2A	Deletion	not provided	GLikely pathogenic
Select item 3248087	NC_000001.10:g.(?_216536920)_(216538298_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248086	NC_000001.10:g.(?_216173777)_(216176014_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248085	NC_000001.10:g.(?_216591882)_(216592022_?)del	USH2A	Deletion	not provided	GLikely pathogenic
Select item 3248083	NC_000001.10:g.(?_216591736)_(216592015_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248082	NC_000001.10:g.(?_216373331)_(216375317_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248081	NC_000001.10:g.(?_215953165)_(215972487_?)dup	USH2A	Duplication	not provided	GUncertain significance
Select item 3248080	NC_000001.10:g.(?_216380595)_(216592041_?)dup	USH2A	Duplication	not provided	GLikely pathogenic
Select item 3248079	NC_000001.10:g.(?_216256778)_(216270575_?)dup	USH2A	Duplication	not provided	GLikely pathogenic
Select item 3248078	NC_000001.10:g.(?_216348574)_(216363729_?)dup	USH2A	Duplication	not provided	GLikely pathogenic
Select item 3248077	NC_000001.10:g.(?_216011313)_(216011465_?)dup	USH2A	Duplication	not provided	GLikely pathogenic
Select item 3248076	NC_000001.10:g.(?_216538275)_(216538447_?)dup	USH2A	Duplication	not provided	GLikely pathogenic
Select item 3248075	NC_000001.10:g.(?_216462602)_(216462772_?)dup	USH2A	Duplication	not provided	GLikely pathogenic
Select item 3248074	NC_000001.10:g.(?_215820844)_(215822128_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248072	NC_000001.10:g.(?_215820844)_(215824163_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248071	NC_000001.10:g.(?_215914697)_(215916697_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248070	NC_000001.10:g.(?_215901352)_(215940150_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248069	NC_000001.10:g.(?_216465497)_(216501016_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248068	NC_000001.10:g.(?_216011313)_(216019395_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248067	NC_000001.10:g.(?_215799123)_(216040532_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248066	NC_000001.10:g.(?_216039721)_(216538447_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248065	NC_000001.10:g.(?_216464357)_(216538407_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248064	NC_000001.10:g.(?_215931917)_(216074267_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248063	NC_000001.10:g.(?_215940003)_(216074267_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248061	NC_000001.10:g.(?_216039721)_(216144138_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248060	NC_000001.10:g.(?_216039721)_(216166529_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248059	NC_000001.10:g.(?_216219753)_(216222009_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248058	NC_000001.10:g.(?_216138639)_(216243654_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248057	NC_000001.10:g.(?_216243423)_(216258239_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248056	NC_000001.10:g.(?_216219753)_(216262501_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248055	NC_000001.10:g.(?_216219753)_(216270575_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248054	NC_000001.10:g.(?_216246211)_(216270575_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248053	NC_000001.10:g.(?_216262335)_(216270575_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248052	NC_000001.10:g.(?_216256778)_(216363729_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248050	NC_000001.10:g.(?_216380595)_(216405498_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248049	NC_000001.10:g.(?_216348574)_(216465732_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248048	NC_000001.10:g.(?_216419907)_(216465732_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248047	NC_000001.10:g.(?_216462602)_(216465732_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248046	NC_000001.10:g.(?_215807781)_(215808065_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248045	NC_000001.10:g.(?_215967783)_(215972487_?)del	USH2A	Deletion	not provided	GLikely pathogenic
Select item 3248044	NC_000001.10:g.(?_216538275)_(216538447_?)del	USH2A	Deletion	not provided	GPathogenic

<< First< Prev

Page of 10