Related gene-specific medical variations for Gene (Select 7399) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383614	NM_206933.4(USH2A):c.4064A>G (p.Glu1355Gly)	USH2A, USH2A-AS1 (E1355G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3382220	NM_206933.4(USH2A):c.1144-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 3370415	NM_206933.4(USH2A):c.1972-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3370414	NM_206933.4(USH2A):c.14343+2T>G	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3370413	NM_206933.4(USH2A):c.14969-1G>C	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
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 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 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 3349561	NM_206933.4(USH2A):c.3207_3261dup (p.Ser1088delinsTyrGlnSerLeuLeuGluSerThrTer)	USH2A, USH2A-AS1	Duplication (nonsense)	USH2A-related disorder	GPathogenic
Select item 3345323	NM_206933.4(USH2A):c.2382del (p.Cys795fs)	LOC122152296, USH2A (C795fs)	Deletion (frameshift variant)	USH2A-related disorder	GPathogenic
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 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 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 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
Select item 3248043	NC_000001.10:g.(?_216143947)_(216144138_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248042	NC_000001.10:g.(?_216221856)_(216222009_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248041	NC_000001.10:g.(?_216251411)_(216251724_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248039	NC_000001.10:g.(?_216270405)_(216270575_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3248038	NC_000001.10:g.(?_216419907)_(216420588_?)del	USH2A	Deletion	not provided	GPathogenic
Select item 3240725	NM_206933.4(USH2A):c.5092del (p.Glu1698fs)	USH2A, USH2A-AS2 (E1698fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240724	NM_206933.4(USH2A):c.1332dup (p.Thr445fs)	USH2A (T445fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240723	NM_206933.4(USH2A):c.14791+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 3240722	NM_206933.4(USH2A):c.7407C>G (p.Tyr2469Ter)	USH2A (Y2469*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240721	NM_206933.4(USH2A):c.14693dup (p.Leu4899fs)	USH2A (L4899fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GPathogenic
Select item 3240720	NM_206933.4(USH2A):c.2615T>A (p.Leu872Ter)	LOC122152296, USH2A (L872*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240718	NM_206933.4(USH2A):c.11403del (p.Glu3802fs)	USH2A (E3802fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240717	NM_206933.4(USH2A):c.9055+1G>T	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240715	NM_206933.4(USH2A):c.5572+1G>T	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240714	NM_206933.4(USH2A):c.10585+2T>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240713	NM_206933.4(USH2A):c.5577_5626dup (p.Leu1876delinsSerValValAlaTer)	USH2A, USH2A-AS2	Duplication (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240712	NM_206933.4(USH2A):c.2241C>A (p.Cys747Ter)	USH2A (C747*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240711	NM_206933.4(USH2A):c.15060_15066dup (p.Thr5023fs)	USH2A (T5023fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240710	NM_206933.4(USH2A):c.3594C>G (p.Tyr1198Ter)	USH2A, USH2A-AS1 (Y1198*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240709	NM_206933.4(USH2A):c.10773del (p.Ser3592fs)	USH2A (S3592fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240707	NM_206933.4(USH2A):c.14525C>A (p.Ser4842Ter)	USH2A (S4842*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 3240706	NM_206933.4(USH2A):c.999dup (p.Arg334fs)	USH2A (R334fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240705	NM_206933.4(USH2A):c.7154_7155del (p.Lys2385fs)	USH2A (K2385fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240704	NM_206933.4(USH2A):c.11865G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 3240703	NM_206933.4(USH2A):c.9959del	USH2A	Deletion (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240702	NM_206933.4(USH2A):c.4552A>T (p.Lys1518Ter)	USH2A (K1518*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240701	NM_206933.4(USH2A):c.8024_8025del (p.Leu2675fs)	USH2A (L2675fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240700	NM_206933.4(USH2A):c.1735dup (p.Ser579fs)	USH2A (S579fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240699	NM_206933.4(USH2A):c.11047+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic

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