ClinVar Miner

Variants in gene DSG2 with conflicting interpretations

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
803 81 0 38 41 0 10 76

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 0 7 4 1 0
likely pathogenic 7 0 6 2 1
uncertain significance 4 6 0 37 8
likely benign 1 2 37 0 31
benign 0 1 8 31 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
NM_001943.5(DSG2):c.*2C>T rs183494886
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.1280+18G>C rs141175168
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279
NM_001943.5(DSG2):c.1491C>T (p.Pro497=) rs587780928
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.5(DSG2):c.1652-12C>T rs140850369
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) rs794728081
NM_001943.5(DSG2):c.217-5G>T rs80073511
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001943.5(DSG2):c.2334+9G>A rs776516070
NM_001943.5(DSG2):c.2335-9T>C rs757355636
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546
NM_001943.5(DSG2):c.45+9C>G rs376573409
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012

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