ClinVar Miner

Variants in gene USH2A with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
765 290 4 97 86 0 41 200

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 56 11 0 0
likely pathogenic 56 1 38 5 3
uncertain significance 11 38 0 74 24
likely benign 0 5 74 0 41
benign 0 3 24 41 0

All variants with conflicting interpretations #

Total variants: 200
Download table as spreadsheet
HGVS dbSNP
NM_007123.5(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_007123.5(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_007123.5(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_007123.5(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_007123.5(USH2A):c.3547_3548delAT (p.Ile1183Phefs) rs397518013
NM_007123.5(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_007123.5(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_007123.5(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_007123.5(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_007123.5(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_007123.5(USH2A):c.485+12T>C rs201857884
NM_007123.5(USH2A):c.486-15C>T rs114194722
NM_206933.2(USH2A):c.1000C>T (p.Arg334Trp) rs397517963
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.2(USH2A):c.10190_10191delAA (p.Lys3397Argfs) rs397517964
NM_206933.2(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.2(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.2(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.2(USH2A):c.10517C>T (p.Thr3506Met) rs397517966
NM_206933.2(USH2A):c.10552G>A (p.Val3518Ile) rs75397806
NM_206933.2(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.2(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.2(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.2(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.2(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969
NM_206933.2(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.2(USH2A):c.1111_1112delAT (p.Ile371Phefs) rs1366496013
NM_206933.2(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.2(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.2(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272
NM_206933.2(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.2(USH2A):c.11467G>A (p.Val3823Ile) rs142481947
NM_206933.2(USH2A):c.11549-1G>A rs878853407
NM_206933.2(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.2(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582
NM_206933.2(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.2(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.2(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.2(USH2A):c.12067-1G>C rs397517977
NM_206933.2(USH2A):c.12093C>T (p.Tyr4031=) rs55921307
NM_206933.2(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.2(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170
NM_206933.2(USH2A):c.12295-2A>G rs151148854
NM_206933.2(USH2A):c.12295-3T>A rs111033518
NM_206933.2(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.2(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.2(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.2(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.2(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572
NM_206933.2(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640
NM_206933.2(USH2A):c.12817T>C (p.Tyr4273His) rs79654794
NM_206933.2(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.2(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.2(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.2(USH2A):c.13097C>T (p.Ala4366Val) rs727505097
NM_206933.2(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.2(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.2(USH2A):c.13134G>T (p.Pro4378=) rs148975669
NM_206933.2(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.2(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.2(USH2A):c.13404A>G (p.Arg4468=) rs146994147
NM_206933.2(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.2(USH2A):c.13478G>A (p.Arg4493His) rs138879998
NM_206933.2(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.2(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.2(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.2(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607
NM_206933.2(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.2(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.2(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.2(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.2(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586
NM_206933.2(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.2(USH2A):c.14516C>T (p.Thr4839Met) rs139065588
NM_206933.2(USH2A):c.14517G>A (p.Thr4839=) rs397517991
NM_206933.2(USH2A):c.14664G>A (p.Thr4888=) rs111033525
NM_206933.2(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.2(USH2A):c.1486A>C (p.Thr496Pro) rs145114473
NM_206933.2(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.2(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.2(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.2(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.2(USH2A):c.1590A>T (p.Thr530=) rs144343161
NM_206933.2(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.2(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.2(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.2(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.2(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.2(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.2(USH2A):c.2094C>T (p.Thr698=) rs141489104
NM_206933.2(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.2(USH2A):c.2167+5G>A rs771583281
NM_206933.2(USH2A):c.2168-2A>G rs993185407
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.2(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.2(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.2(USH2A):c.2809+2T>A rs1553320397
NM_206933.2(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.2(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.2(USH2A):c.313C>T (p.Leu105Phe) rs375083165
NM_206933.2(USH2A):c.3158-6A>G rs397518010
NM_206933.2(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.2(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.2(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.2(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.2(USH2A):c.3558delT (p.Cys1186Trpfs) rs397518014
NM_206933.2(USH2A):c.3812-8T>G rs646094
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.2(USH2A):c.4252-16_4252-13delCTTT rs372388546
NM_206933.2(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.2(USH2A):c.4560C>T (p.Ile1520=) rs148000219
NM_206933.2(USH2A):c.4578G>T (p.Gly1526=) rs147560504
NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.2(USH2A):c.4758+3A>G rs117798425
NM_206933.2(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.2(USH2A):c.4837A>G (p.Ile1613Val) rs397518017
NM_206933.2(USH2A):c.486-14G>A rs374536346
NM_206933.2(USH2A):c.486-1G>C rs876657730
NM_206933.2(USH2A):c.5858-12A>G rs727503727
NM_206933.2(USH2A):c.5858-1G>A rs397518023
NM_206933.2(USH2A):c.5877delT (p.Ser1961Glnfs) rs727505343
NM_206933.2(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
NM_206933.2(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.2(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096
NM_206933.2(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883
NM_206933.2(USH2A):c.6134A>G (p.His2045Arg) rs111033514
NM_206933.2(USH2A):c.6159delA (p.Glu2054Lysfs) rs769838859
NM_206933.2(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.2(USH2A):c.6347A>G (p.His2116Arg) rs111033450
NM_206933.2(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231
NM_206933.2(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.2(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.2(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.2(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.2(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.2(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.2(USH2A):c.688G>A (p.Val230Met) rs45500891
NM_206933.2(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.2(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.2(USH2A):c.7038C>T (p.His2346=) rs145718407
NM_206933.2(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.2(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.2(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.2(USH2A):c.7301-6C>T rs375499259
NM_206933.2(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.2(USH2A):c.7451+3G>A rs397518030
NM_206933.2(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.2(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NM_206933.2(USH2A):c.7595-2144A>G rs786200928
NM_206933.2(USH2A):c.7595-3C>G rs201657446
NM_206933.2(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.2(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032
NM_206933.2(USH2A):c.802G>A (p.Gly268Arg) rs111033280
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.2(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452
NM_206933.2(USH2A):c.8319C>T (p.Ser2773=) rs56829872
NM_206933.2(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.2(USH2A):c.8458G>A (p.Val2820Ile) rs59174500
NM_206933.2(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.2(USH2A):c.8559-7G>A rs199618999
NM_206933.2(USH2A):c.8681+1G>A rs876657733
NM_206933.2(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.2(USH2A):c.8937A>G (p.Val2979=) rs139100097
NM_206933.2(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.2(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535
NM_206933.2(USH2A):c.908G>A (p.Arg303His) rs371777049
NM_206933.2(USH2A):c.9110G>A (p.Arg3037His) rs533700989
NM_206933.2(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.2(USH2A):c.9258+1G>A rs748810737
NM_206933.2(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_206933.2(USH2A):c.9307A>G (p.Ile3103Val) rs143352618
NM_206933.2(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654
NM_206933.2(USH2A):c.9459C>T (p.Cys3153=) rs73090721
NM_206933.2(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.2(USH2A):c.9571-2A>G rs751111524
NM_206933.2(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000
NM_206933.2(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.2(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.2(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.2(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.2(USH2A):c.9959-11T>G rs116150014
NM_206933.2(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371Argfs) rs768161313
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.3(USH2A):c.8682-9A>G rs372347027

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