View unique variants in gene USH2A

Information The variants shown are described using the transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 c.-355C>G p.(=) - - - - r.(=) - 1 Unknown - g.216596706G>C - - - USH2A_000111 MSCV_0015712 - - ; clinvar; - - - -
./. 1 c.-289C>A p.(=) - - - - r.(=) - 1 Unknown - g.216596640G>T - - - USH2A_000110 MSCV_0015711 - - ; clinvar; - - - -
./. 1 c.-289C>T p.(=) - - - - r.(=) - 1 Unknown - g.216596640G>A - - - USH2A_000109 MSCV_0015710 - - ; clinvar; - - - -
./. 1 c.-229C>T p.(=) - - - - r.(=) - 1 Unknown - g.216596580G>A - - - USH2A_000108 MSCV_0015709 - - ; clinvar; - - - -
./. 1 c.-181C>T p.(=) - - - - r.(=) - 1 Unknown - g.216595859G>A - - - USH2A_000107 MSCV_0015708 - - ; clinvar; - - - -
./. 1 c.-159G>C p.(=) - - - - r.(=) - 1 Unknown - g.216595837C>G - - - USH2A_000106 MSCV_0015707 - - ; clinvar; - - - -
./. 1 c.126C>T p.(=) - - - - r.(=) - 1 Unknown - g.216595553G>A - - - USH2A_000105 MSCV_0015706 - - ; clinvar; - - - -
./. 1 c.373G>A p.(Ala125Thr) - - - - r.(?) - 1 Unknown - g.216595306C>T - - - USH2A_000153 MSCV_0015705 - - ; clinvar; - - - -
./. 1 c.485+12T>C p.(=) - - - - r.(=) - 1 Unknown - g.216595182A>G - - - USH2A_000152 MSCV_0015704 - - ; clinvar; - - - -
./. 1 c.486-15C>T p.(=) - - - - r.(=) - 1 Unknown - g.216592036G>A - - - USH2A_000154 MSCV_0015703 - - ; clinvar; - - - -
./. 1 c.504A>G p.(=) - - - - r.(=) - 1 Unknown - g.216592003T>C - - - USH2A_000156 MSCV_0015702 - - ; clinvar; - - - -
./. 1 c.651+15A>G p.(=) - - - - r.(=) - 1 Unknown - g.216591841T>C - - - USH2A_000155 MSCV_0015701 - - ; clinvar; - - - -
+?/+? 1 c.653T>A p.(Val218Glu) missense_variant,splice_region_variant - 4/21 probably_damaging(0.962) r.(?) deleterious(0) 1 Unknown subst g.216538426A>T - 5.500 - USH2A_000028 MSCV_0000173 rs397518026 - ; clinvar; 17405132;11311042;20052763;18281613 - - -
+/+ 1 c.820C>T p.(Arg274*) stop_gained - 5/21 - r.(?) - 1 Unknown subst g.216500961G>A - 4.850 - USH2A_000027 MSCV_0000172 rs397518036 - ; clinvar; 22004887 - - -
./. 1 c.849-4A>G p.? - - - - r.spl? - 1 Unknown - g.216498945T>C - - - USH2A_000104 MSCV_0015700 - - ; clinvar; - - - -
?/? 1 c.920_921insGCCA p.(Ser307Argfs*17) frameshift_variant - 6/21 - r.(?) - 1 Unknown ins g.216498869_216498870insTGGC - - - USH2A_000026 MSCV_0000171 - - ; - - - -
?/? 1 c.923_924insGCCA p.(His308Glnfs*16) - - - - r.(?) - 1 Unknown ins g.216498866_216498867insTGGC - - - USH2A_000046 MSCV_0000170 rs397518043 - ; 10729113;10909849;15025721;18641288;19683999;14970843;18273898;15241801;15325563;11311042 - - -
+/+ 1 c.949C>A p.(=) synonymous_variant - 6/21 - r.(=) - 1 Unknown subst g.216498841G>T - 1.900 - USH2A_000045 MSCV_0000169 rs111033272 - ; clinVar; Ensembl; 15325563;18273898;15015129;15043528;15241801 - - -
./. 1 c.950G>A p.(Arg317Gln) - - - - r.(?) - 1 Unknown - g.216498840C>T - - - USH2A_000103 MSCV_0015699 - - ; clinvar; - - - -
+?/+? 1 c.1036A>C p.(Asn346His) missense_variant - 6/21 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.216498754T>G - 5.360 - USH2A_000044 MSCV_0000168 rs369522997 - ; clinvar; 10909849;15025721;17405132;22681893;10729113;15241801 - - -
+/+ 1 c.1143+1G>A p.? splice_donor_variant - - - r.spl? - 1 Unknown subst g.216498646C>T - 4.450 - USH2A_000043 MSCV_0000167 rs397517974 - ; clinvar; - - - -
./. 1 c.1179A>G p.(=) - - - - r.(=) - 1 Unknown - g.216497659T>C - - - USH2A_000102 MSCV_0015698 - - ; clinvar; - - - -
+?/+? 1 c.1227G>C p.(Trp409Cys) missense_variant - 7/21 probably_damaging(0.997) r.(?) deleterious(0) 1 Unknown subst g.216497611C>G - 5.640 - USH2A_000062 MSCV_0000166 rs397517979 - ; clinvar; - - - -
+/+ 1 c.1256G>T p.(Cys419Phe) missense_variant - 7/21 probably_damaging(1) r.(?) deleterious(0) 1 Unknown subst g.216497582C>A - 5.420 - USH2A_000061 MSCV_0000165 rs121912600 - ; clinVar; Ensembl; 10729113;15241801;15015129;15325563 - - -
./. 1 c.1327A>G p.(Asn443Asp) - - - - r.(?) - 1 Unknown - g.216497511T>C - - - USH2A_000101 MSCV_0015697 - - ; clinvar; - - - -
./. 1 c.1363A>G p.(Ser455Gly) - - - - r.(?) - 1 Unknown - g.216497003T>C - - - USH2A_000100 MSCV_0015696 - - ; clinvar; - - - -
./. 1 c.1419C>T p.(=) - - - - r.(=) - 1 Unknown - g.216496947G>A - - - USH2A_000099 MSCV_0015695 - - ; clinvar; - - - -
./. 1 c.1530C>T p.(=) - - - - r.(=) - 1 Unknown - g.216496836G>A - - - USH2A_000098 MSCV_0015694 - - ; clinvar; - - - -
./. 1 c.1539C>T p.(=) - - - - r.(=) - 1 Unknown - g.216496827G>A - - - USH2A_000097 MSCV_0015693 - - ; clinvar; - - - -
+/+ 1 c.1606T>C p.(Cys536Arg) missense_variant - 9/21 probably_damaging(0.999) r.(?) deleterious(0) 1 Unknown subst g.216495263A>G - 5.650 - USH2A_000060 MSCV_0000164 rs111033273 - ; clinVar; Ensembl; 15043528;10909849 - - -
./. 1 c.1731C>T p.(=) - - - - r.(=) - 1 Unknown - g.216465626G>A - - - USH2A_000096 MSCV_0015692 - - ; clinvar; - - - -
./. 1 c.1789C>A p.(His597Asn) - - - - r.(?) - 1 Unknown - g.216465568G>T - - - USH2A_000095 MSCV_0015691 - - ; clinvar; - - - -
+/+ 1 c.1841-2A>G p.? splice_acceptor_variant - - - r.spl? - 1 Unknown subst g.216462754T>C - 5.430 - USH2A_000021 MSCV_0000163 rs397518003 - ; clinvar; 18641288;19683999;12525556;15823922;20497194;21487335;21738395;22004887 - - -
./. 1 c.1900G>T p.(Ala634Ser) - - - - r.(?) - 1 Unknown - g.216462693C>A - - - USH2A_000094 MSCV_0015690 - - ; clinvar; - - - -
./. 1 c.1903A>G p.(Ile635Val) - - - - r.(?) - 1 Unknown - g.216462690T>C - - - USH2A_000126 MSCV_0015689 - - ; clinvar; - - - -
./. 1 c.2001C>T p.(=) - - - - r.(=) - 1 Unknown - g.216424411G>A - - - USH2A_000125 MSCV_0015688 - - ; clinvar; - - - -
./. 1 c.2137G>C p.(Gly713Arg) - - - - r.(?) - 1 Unknown - g.216424275C>G - - - USH2A_000124 MSCV_0015687 - - ; clinvar; - - - -
+/+ 1 c.2209C>T p.(Arg737*) stop_gained - 13/21 - r.(?) - 1 Unknown subst g.216420527G>A - 3.590 - USH2A_000020 MSCV_0000162 rs111033334 - ; clinVar; Ensembl; 17296898;18452394 - - -
+/+ 1 c.2276G>T p.(Cys759Phe) missense_variant - 13/21 probably_damaging(0.999) r.(?) deleterious(0) 1 Unknown subst g.216420460C>A - 5.790 - USH2A_000019 MSCV_0000161 rs80338902 - ; clinVar; Ensembl; 10909849;16098008;17085681;17405132;18641288;10775529;21151602;12525556;14970843;15325563;{PMID - - -
./. 1 c.2279A>G p.(Asn760Ser) - - - - r.(?) - 1 Unknown - g.216420457T>C - - - USH2A_000082 MSCV_0015686 - - ; clinvar; - - - -
+/+ 1 c.2299del p.(Glu767Serfs*21) - - - - r.(?) - 1 Unknown del g.216420437del - 2.370 - USH2A_000018 MSCV_0000160 rs80338903 - ; clinVar; Ensembl; 12112664;14970843;20301515;10909849;11402400;10729113;15025721 - - -
./. 1 c.2459A>G p.(Asn820Ser) - - - - r.(?) - 1 Unknown - g.216420277T>C - - - USH2A_000123 MSCV_0015685 - - ; clinvar; - - - -
+/+ 1 c.2898del p.(Thr967Leufs*44) - - - - r.(?) - 1 Unknown del g.216405390del - -11.900 - USH2A_000017 MSCV_0000159 rs397518008 - ; clinvar; 19683999;15325563;10729113;9624053 - - -
./. 1 c.3045C>G p.(His1015Gln) - - - - r.(?) - 1 Unknown - g.216390841G>C - - - USH2A_000122 MSCV_0015684 - - ; clinvar; - - - -
./. 1 c.3157+12C>T p.(=) - - - - r.(=) - 1 Unknown - g.216390717G>A - - - USH2A_000081 MSCV_0015683 - - ; clinvar; - - - -
./. 1 c.3177G>A p.(=) - - - - r.(=) - 1 Unknown - g.216380754C>T - - - USH2A_000121 MSCV_0015682 - - ; clinvar; - - - -
+/+ 1 c.3309C>A p.(Tyr1103*) stop_gained - 16/21 - r.(?) - 1 Unknown subst g.216380622G>T - 1.800 - USH2A_000016 MSCV_0000158 rs397518011 - ; clinvar; - - - -
./. 1 c.3317-14del p.(=) - - - - r.(=) - 1 Unknown - g.216373477del - - - USH2A_000080 MSCV_0015681 - - ; clinvar; - - - -
./. 1 c.3320T>G p.(Ile1107Ser) - - - - r.(?) - 1 Unknown - g.216373460A>C - - - USH2A_000079 MSCV_0015680 - - ; clinvar; - - - -
./. 1 c.3342C>T p.(=) - - - - r.(=) - 1 Unknown - g.216373438G>A - - - USH2A_000078 MSCV_0015679 - - ; clinvar; - - - -
+/+ 1 c.3435del p.(Val1147Serfs*6) - - - - r.(?) - 1 Unknown del g.216373345del - -6.640 - USH2A_000040 MSCV_0000157 rs397518012 - ; clinvar; - - - -
./. 1 c.3532C>G p.(Pro1178Ala) - - - - r.(?) - 1 Unknown - g.216373248G>C - - - USH2A_000075 MSCV_0015678 - - ; clinvar; - - - -
+/+ 1 c.3547_3548del p.(Ile1183Phefs*19) - - - - r.(?) - 1 Unknown del g.216373232_216373233del - - - USH2A_000039 MSCV_0000156 rs397518013 - ; clinvar; - - - -
+/+ 1 c.3558del p.(Cys1186Trpfs*51) - - - - r.(?) - 1 Unknown del g.216373222del - -3.680 - USH2A_000038 MSCV_0000155 rs397518014 - ; clinvar; 20613545 - - -
./. 1 c.3621C>T p.(=) - - - - r.(=) - 1 Unknown - g.216373159G>A - - - USH2A_000120 MSCV_0015677 - - ; clinvar; - - - -
./. 1 c.3648C>T p.(=) - - - - r.(=) - 1 Unknown - g.216373132G>A - - - USH2A_000119 MSCV_0015676 - - ; clinvar; - - - -
./. 1 c.3700A>G p.(Ile1234Val) - - - - r.(?) - 1 Unknown - g.216373080T>C - - - USH2A_000118 MSCV_0015675 - - ; clinvar; - - - -
./. 1 c.3725C>T p.(Pro1242Leu) - - - - r.(?) - 1 Unknown - g.216373055G>A - - - USH2A_000117 MSCV_0015674 - - ; clinvar; - - - -
./. 1 c.3801G>A p.(=) - - - - r.(=) - 1 Unknown - g.216372979C>T - - - USH2A_000116 MSCV_0015673 - - ; clinvar; - - - -
./. 1 c.3812-8T>G p.(=) - - - - r.(=) - 1 Unknown - g.216371934A>C - - - USH2A_000115 MSCV_0015672 - - ; clinvar; - - - -
./. 1 c.3884G>A p.(Arg1295Gln) - - - - r.(?) - 1 Unknown - g.216371854C>T - - - USH2A_000114 MSCV_0015671 - - ; clinvar; - - - -
./. 1 c.3969G>A p.(Met1323Ile) - - - - r.(?) - 1 Unknown - g.216371769C>T - - - USH2A_000113 MSCV_0015670 - - ; clinvar; - - - -
?/? 1 c.4133_4134insTC p.(Asn1379Profs*54) frameshift_variant - 19/21 - r.(?) - 1 Unknown ins g.216370012_216370013insGA - - - USH2A_000037 MSCV_0000154 - - ; - - - -
?/? 1 c.4134_4135insTC p.(Asn1379Serfs*54) - - - - r.(?) - 1 Unknown ins g.216370011_216370012insGA - - - USH2A_000036 MSCV_0000153 rs397518015 - ; - - - -
./. 1 c.4252-16_4252-13del p.(=) - - - - r.(=) - 1 Unknown - g.216363722_216363725del - - - USH2A_000112 MSCV_0015668 - - ; clinvar; - - - -
./. 1 c.4252-13_4252-12insCTTT p.(=) - - - - r.(=) - 1 Unknown - g.216363721_216363722insAAAG - - - USH2A_000151 MSCV_0015669 - - ; clinvar; - - - -
./. 1 c.4276G>A p.(Glu1426Lys) - - - - r.(?) - 1 Unknown - g.216363685C>T - - - USH2A_000150 MSCV_0015667 - - ; clinvar; - - - -
+/+ 1 c.4338_4339del p.(Cys1447Glnfs*29) - - - - r.(?) - 1 Unknown del g.216363622_216363623del - - - USH2A_000035 MSCV_0000152 rs111033367 - ; clinVar; Ensembl; 15325563;10729113;20613545;18665195;9624053 - - -
./. 1 c.4349T>C p.(Val1450Ala) - - - - r.(?) - 1 Unknown - g.216363612A>G - - - USH2A_000149 MSCV_0015666 - - ; clinvar; - - - -
./. 1 c.4366G>A p.(Ala1456Thr) - - - - r.(?) - 1 Unknown - g.216363595C>T - - - USH2A_000148 MSCV_0015665 - - ; clinvar; - - - -
./. 1 c.4412G>C p.(Arg1471Thr) - - - - r.(?) - 1 Unknown - g.216348809C>G - - - USH2A_000147 MSCV_0015664 - - ; clinvar; - - - -
./. 1 c.4440C>T p.(=) - - - - r.(=) - 1 Unknown - g.216348781G>A - - - USH2A_000146 MSCV_0015663 - - ; clinvar; - - - -
./. 1 c.4445C>T p.(Thr1482Ile) - - - - r.(?) - 1 Unknown - g.216348776G>A - - - USH2A_000145 MSCV_0015662 - - ; clinvar; - - - -
./. 1 c.4586A>T p.(Lys1529Ile) - - - - r.(?) - 1 Unknown - g.216348635T>A - - - USH2A_000144 MSCV_0015661 - - ; clinvar; - - - -
./. 1 c.*131T>G p.(=) - - - - r.(=) - 1 Unknown - g.216348449A>C - - - USH2A_000143 MSCV_0015660 - - ; clinvar; - - - -
./. 1 c.*147T>C p.(=) - - - - r.(=) - 1 Unknown - g.216348433A>G - - - USH2A_000142 MSCV_0015659 - - ; clinvar; - - - -
./. 1 c.*267T>C p.(=) - - - - r.(=) - 1 Unknown - g.216348313A>G - - - USH2A_000141 MSCV_0015658 - - ; clinvar; - - - -
./. 1 c.*316A>G p.(=) - - - - r.(=) - 1 Unknown - g.216348264T>C - - - USH2A_000140 MSCV_0015657 - - ; clinvar; - - - -
./. 1 c.*397A>G p.(=) - - - - r.(=) - 1 Unknown - g.216348183T>C - - - USH2A_000139 MSCV_0015656 - - ; clinvar; - - - -
./. 1 c.*547T>C p.(=) - - - - r.(=) - 1 Unknown - g.216348033A>G - - - USH2A_000138 MSCV_0015655 - - ; clinvar; - - - -
./. 1 c.*548C>T p.(=) - - - - r.(=) - 1 Unknown - g.216348032G>A - - - USH2A_000137 MSCV_0015654 - - ; clinvar; - - - -
./. 1 c.*575C>A p.(=) - - - - r.(=) - 1 Unknown - g.216348005G>T - - - USH2A_000136 MSCV_0015653 - - ; clinvar; - - - -
./. 1 c.*596G>A p.(=) - - - - r.(=) - 1 Unknown - g.216347984C>T - - - USH2A_000135 MSCV_0015652 - - ; clinvar; - - - -
./. 1 c.*685C>A p.(=) - - - - r.(=) - 1 Unknown - g.216347895G>T - - - USH2A_000134 MSCV_0015651 - - ; clinvar; - - - -
./. 1 c.*787C>G p.(=) - - - - r.(=) - 1 Unknown - g.216347793G>C - - - USH2A_000133 MSCV_0015650 - - ; clinvar; - - - -
./. 1 c.*799C>T p.(=) - - - - r.(=) - 1 Unknown - g.216347781G>A - - - USH2A_000132 MSCV_0015649 - - ; clinvar; - - - -
./. 1 c.*837A>G p.(=) - - - - r.(=) - 1 Unknown - g.216347743T>C - - - USH2A_000131 MSCV_0015648 - - ; clinvar; - - - -
./. 1 c.*937_*938del p.(=) - - - - r.(=) - 1 Unknown - g.216347642_216347643del - - - USH2A_000130 MSCV_0015647 - - ; clinvar; - - - -
./. 1 c.*1024T>C p.(=) - - - - r.(=) - 1 Unknown - g.216347556A>G - - - USH2A_000129 MSCV_0015646 - - ; clinvar; - - - -
./. 1 c.*1077T>C p.(=) - - - - r.(=) - 1 Unknown - g.216347503A>G - - - USH2A_000128 MSCV_0015645 - - ; clinvar; - - - -
./. 1 c.*1128G>T p.(=) - - - - r.(=) - 1 Unknown - g.216347452C>A - - - USH2A_000127 MSCV_0015644 - - ; clinvar; - - - -
./. 1 c.*1191_*1194del p.(=) - - - - r.(=) - 1 Unknown - g.216347386_216347389del - - - USH2A_000157 MSCV_0015643 - - ; clinvar; - - - -
Legend