ClinVar Miner

Variants in gene GJB2 with conflicting interpretations

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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
137 86 13 58 16 1 22 83

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 association drug response
pathogenic 13 45 14 6 2 1 1
likely pathogenic 44 0 15 4 1 0 0
uncertain significance 13 15 0 15 8 0 0
likely benign 5 4 15 0 14 0 0
benign 1 1 8 14 0 0 0

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.630_631GT[1] (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
Single allele

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