ClinVar Miner

Variants with conflicting interpretations studied for Blau syndrome

Coded as:
Minimum review status of the submission for Blau syndrome: Y axis collection method of the submission for Blau syndrome:
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
4 73 0 9 16 5 0 25

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
Blau syndrome uncertain significance likely benign benign risk factor
pathogenic 0 0 0 1
uncertain significance 0 2 1 0
likely benign 14 0 8 4
benign 0 1 0 0

Condition to condition summary #

Total conditions: 9
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
Blau syndrome; Inflammatory bowel disease 1 0 10 0 7 8 4 0 19
Inflammatory bowel disease 1 0 0 0 0 1 4 0 5
Yao syndrome 0 0 0 0 0 4 0 4
not provided 0 3 0 0 4 0 0 4
not specified 0 5 0 1 3 0 0 3
Blau syndrome 101 0 0 0 1 0 0 1
Blau syndrome; Inflammatory bowel disease 1; Psoriatic arthritis, susceptibility to; Yao syndrome 0 0 0 1 0 0 0 1
Blau syndrome; Inflammatory bowel disease 1; Yao syndrome 0 0 0 0 1 0 0 1
Crohn disease 0 90 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_022162.3(NOD2):c.1269G>T (p.Val423=) rs77966199
NM_022162.3(NOD2):c.1281G>A (p.Pro427=) rs104895430
NM_022162.3(NOD2):c.1316G>A (p.Arg439His) rs143110172
NM_022162.3(NOD2):c.1833C>T (p.Ala611=) rs61736932
NM_022162.3(NOD2):c.1834G>A (p.Ala612Thr) rs104895438
NM_022162.3(NOD2):c.1834G>T (p.Ala612Ser) rs104895438
NM_022162.3(NOD2):c.2050C>T (p.Arg684Trp) rs5743276
NM_022162.3(NOD2):c.2104C>T (p.Arg702Trp) rs2066844
NM_022162.3(NOD2):c.2107C>T (p.Arg703Cys) rs5743277
NM_022162.3(NOD2):c.2123G>A (p.Arg708His) rs35285618
NM_022162.3(NOD2):c.2372G>A (p.Arg791Gln) rs104895464
NM_022162.3(NOD2):c.2546C>T (p.Ala849Val) rs104895486
NM_022162.3(NOD2):c.2555A>G (p.Asn852Ser) rs104895467
NM_022162.3(NOD2):c.2587A>G (p.Met863Val) rs104895447
NM_022162.3(NOD2):c.2722G>C (p.Gly908Arg) rs2066845
NM_022162.3(NOD2):c.2798+158C>T rs5743289
NM_022162.3(NOD2):c.2863G>A (p.Val955Ile) rs5743291
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022162.3(NOD2):c.413G>A (p.Arg138Gln) rs104895456
NM_022162.3(NOD2):c.484G>A (p.Val162Ile) rs139571975
NM_022162.3(NOD2):c.541-3T>C rs141833420
NM_022162.3(NOD2):c.703C>T (p.Arg235Cys) rs104895422
NM_022162.3(NOD2):c.74-7T>A rs104895421
NM_022162.3(NOD2):c.807G>A (p.Pro269=) rs369766454
NM_022162.3(NOD2):c.931C>T (p.Arg311Trp) rs104895427

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