ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_215802146)_(215808055_?)dup
NC_000001.10:g.(?_215807801)_(215808045_?)del
NC_000001.10:g.(?_215967783)_(215972477_?)del
NC_000001.10:g.(?_216049419_216051126del
NC_000001.10:g.(?_216107948)_(216138831_?)dup
NC_000001.10:g.(?_216108028)_(216110946_?)del
NC_000001.10:g.(?_216219884_216227803del
NC_000001.10:g.(?_216363565)_(216373463_?)del
NC_000001.10:g.(?_216372959)_(216373473_?)del
NC_000001.10:g.(?_216591882_216592022del
NC_000001.11:g.(?_215766671)_(215934805_?)del
NC_000001.11:g.(?_215798897)_(215799135_?)del
NM_206933.3(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11389+1G>A rs368770647
NM_206933.3(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387
NM_206933.3(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1391G>A (p.Arg464His) rs771000800
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.486-1_625del rs1571801564
NM_206933.3(USH2A):c.4886-1G>A rs1553300340
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.3(USH2A):c.5167+1G>T rs794727408
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6050-2A>G rs772124060
NM_206933.3(USH2A):c.651+1G>A rs1553257761
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8682-2A>C rs1553271002
NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.10585+3A>G
NM_206933.4(USH2A):c.10586-1G>T
NM_206933.4(USH2A):c.10939+2T>C
NM_206933.4(USH2A):c.11231+1G>C
NM_206933.4(USH2A):c.11389+2T>C
NM_206933.4(USH2A):c.11390-1G>A
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys)
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.14343+1G>A
NM_206933.4(USH2A):c.14344-1G>T
NM_206933.4(USH2A):c.14791+1G>A
NM_206933.4(USH2A):c.14968+2T>G
NM_206933.4(USH2A):c.15297+1G>C
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.1971+1G>T
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374
NM_206933.4(USH2A):c.2809+1G>C
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.3316+2T>A
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.4082-1G>A
NM_206933.4(USH2A):c.4628-2A>G
NM_206933.4(USH2A):c.4885+1G>A
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167G>A (p.Gly1723Arg)
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.6163+1G>A
NM_206933.4(USH2A):c.652-2A>G
NM_206933.4(USH2A):c.6806-2A>G
NM_206933.4(USH2A):c.7300+1G>C
NM_206933.4(USH2A):c.7301-1G>A
NM_206933.4(USH2A):c.7451+1G>A
NM_206933.4(USH2A):c.781_784+1375del
NM_206933.4(USH2A):c.784+2T>C
NM_206933.4(USH2A):c.8224-1G>C
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
NM_206933.4(USH2A):c.848+1G>T
NM_206933.4(USH2A):c.848+2T>C
NM_206933.4(USH2A):c.849-2A>G
NM_206933.4(USH2A):c.8559-1G>T
NM_206933.4(USH2A):c.8655_8681+1681del
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9739+1G>C
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
NM_206933.4(USH2A):c.9958+2T>C
NM_206933.4(USH2A):c.9959-4159A>G

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.