ClinVar Miner

Variants with conflicting interpretations studied for Usher syndrome, type 2A; Retinitis pigmentosa 39

Coded as:
Minimum review status of the submission for Usher syndrome, type 2A; Retinitis pigmentosa 39: Y axis collection method of the submission for Usher syndrome, type 2A; Retinitis pigmentosa 39:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
259 138 1 51 27 0 28 97

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.

All conditions
Usher syndrome, type 2A; Retinitis pigmentosa 39 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 17 2 0 0
likely pathogenic 33 1 11 0 0
uncertain significance 2 14 0 25 1
likely benign 0 0 1 0 4

Condition to condition summary #

Total conditions: 11
Download table as spreadsheet
Condition 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
not specified 0 87 0 4 27 0 2 32
Usher syndrome, type 2A 0 33 1 22 0 0 2 25
not provided 0 35 0 20 0 0 5 24
Retinitis pigmentosa 0 19 0 5 0 0 13 17
Retinitis pigmentosa 39 0 8 0 3 0 0 4 7
Usher syndrome 0 9 0 6 0 0 1 7
Usher syndrome, type 2A; Retinitis pigmentosa 39 478 13 0 3 0 0 0 3
Hearing impairment 0 0 0 1 0 0 0 1
Retinal dystrophy 0 8 0 0 0 0 1 1
USH2A-Related Disorders 0 2 0 0 0 0 1 1
Usher syndrome, type 1 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 97
Download table as spreadsheet
HGVS dbSNP
NM_007123.5(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
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.10517C>T (p.Thr3506Met) rs397517966
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.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.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.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.2(USH2A):c.12067-1G>C rs397517977
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.12505A>G (p.Thr4169Ala) rs113107803
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.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.13126T>G (p.Trp4376Gly) rs775490668
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.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.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.2(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
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.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.1859G>T (p.Cys620Phe) rs758571672
NM_206933.2(USH2A):c.2167+5G>A rs771583281
NM_206933.2(USH2A):c.2168-2A>G rs993185407
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.313C>T (p.Leu105Phe) rs375083165
NM_206933.2(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.2(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.2(USH2A):c.4027A>C (p.Asn1343His) rs754634823
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.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.2(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.2(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.2(USH2A):c.5857+2T>C rs397518022
NM_206933.2(USH2A):c.5858-12A>G rs727503727
NM_206933.2(USH2A):c.5858-1G>A rs397518023
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.6134A>G (p.His2045Arg) rs111033514
NM_206933.2(USH2A):c.6159delA (p.Glu2054Lysfs) rs769838859
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.6967C>T (p.Arg2323Ter) rs1485173724
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.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.2(USH2A):c.7451+3G>A rs397518030
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.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.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.2(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.2(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.2(USH2A):c.8681+1G>A rs876657733
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.9258+1G>A rs748810737
NM_206933.2(USH2A):c.9307A>G (p.Ile3103Val) rs143352618
NM_206933.2(USH2A):c.9571-2A>G rs751111524
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.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.2(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371Argfs) rs768161313
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376
NM_206933.3(USH2A):c.8682-9A>G rs372347027

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