ClinVar Miner

Variants with conflicting interpretations studied for Usher syndrome, type 2A

Coded as:
Minimum review status of the submission for Usher syndrome, type 2A: Y axis collection method of the submission for Usher syndrome, type 2A:
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
57 37 3 42 9 1 19 54

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 19 11 0 1
likely pathogenic 15 1 5 0 0
uncertain significance 3 2 0 1 3
likely benign 0 0 1 0 1
benign 0 1 6 10 0
risk factor 1 0 0 0 0

Condition to condition summary #

Total conditions: 19
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 provided 0 26 0 18 6 0 3 25
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 16 1 11 2 0 5 18
Retinitis pigmentosa 0 10 3 6 1 0 5 13
not specified 0 14 0 9 4 0 1 12
Retinitis pigmentosa 39 0 23 0 3 0 0 6 9
Rare genetic deafness 0 18 0 8 0 0 0 8
Usher syndrome 0 9 0 5 0 0 1 6
Usher syndrome, type 2A 132 11 0 3 1 0 1 5
Retinal dystrophy 0 1 0 1 0 0 2 3
Inborn genetic diseases 0 0 0 2 0 0 0 2
Leber congenital amaurosis 0 0 0 1 1 0 0 2
USH2A-Related Disorders 0 2 0 1 0 0 1 2
Blindness; Rod-cone dystrophy; Pigmentary retinopathy; Abnormal macular morphology; Retinal pigment epithelial atrophy 0 0 0 1 0 0 0 1
Cone-rod dystrophy 0 1 0 1 0 0 1 1
DEAFNESS, AUTOSOMAL RECESSIVE 57 0 0 0 0 0 1 0 1
Retinitis Pigmentosa, Recessive 0 0 0 1 0 0 0 1
Retinitis pigmentosa-deafness syndrome 0 0 0 1 0 0 0 1
Usher syndrome type 2 0 4 0 1 0 0 0 1
Usher syndrome, type 1 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_007123.5(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_007123.5(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.3(USH2A):c.11928G>A (p.Thr3976=) rs55961436
NM_206933.3(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.3(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3158-2A>G rs878853404
NM_206933.3(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4758+3A>G rs117798425
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5278del (p.Asp1760fs) rs754374132
NM_206933.3(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.3(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.3(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.3(USH2A):c.7451+3G>A rs397518030
NM_206933.3(USH2A):c.7475C>A (p.Ser2492Ter) rs483353056
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg)
NM_206933.3(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.949C>A (p.Arg317=) rs111033272
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950

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