ClinVar Miner

Variants with conflicting interpretations studied for Predisposition to invasive fungal disease due to CARD9 deficiency

Coded as:
Minimum review status of the submission for Predisposition to invasive fungal disease due to CARD9 deficiency: Collection method of the submission for Predisposition to invasive fungal disease due to CARD9 deficiency:
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 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
443 33 0 10 15 5 0 29

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
Predisposition to invasive fungal disease due to CARD9 deficiency pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 1 0 0 0 3
likely pathogenic 1 0 0 0 0 0
uncertain significance 0 0 0 13 3 2
likely benign 0 0 13 0 9 0
benign 0 0 3 9 0 0
risk factor 3 0 2 0 0 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Predisposition to invasive fungal disease due to CARD9 deficiency 443 33 0 10 15 5 0 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052813.5(CARD9):c.693G>A (p.Thr231=) rs59902911 0.03899
NM_052813.5(CARD9):c.809A>T (p.Glu270Val) rs114895119 0.00356
NM_052813.5(CARD9):c.324C>T (p.Asp108=) rs34971035 0.00158
NM_052813.5(CARD9):c.288C>A (p.Gly96=) rs137986801 0.00096
NM_052813.5(CARD9):c.951+14C>T rs574158361 0.00075
NM_052813.5(CARD9):c.960G>A (p.Glu320=) rs148158774 0.00056
NM_052813.5(CARD9):c.801C>T (p.Ser267=) rs143884319 0.00043
NM_052813.5(CARD9):c.12C>T (p.Tyr4=) rs35051231 0.00040
NM_052813.5(CARD9):c.406C>T (p.Leu136=) rs143393026 0.00035
NM_052813.5(CARD9):c.513C>T (p.Gly171=) rs78538457 0.00018
NM_052813.5(CARD9):c.1260G>A (p.Thr420=) rs142757984 0.00016
NM_052813.5(CARD9):c.661G>A (p.Glu221Lys) rs200735402 0.00006
NM_052813.5(CARD9):c.185-5C>T rs760533705 0.00001
NM_052813.5(CARD9):c.214G>A (p.Gly72Ser) rs398122362 0.00001
NM_052813.5(CARD9):c.549C>T (p.Tyr183=) rs528585158 0.00001
NM_052813.5(CARD9):c.636G>A (p.Gln212=) rs759411705 0.00001
NM_052813.5(CARD9):c.808-8C>T rs542391727 0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter) rs398122363 0.00001
NM_052813.5(CARD9):c.1090C>A (p.Arg364=) rs151211588
NM_052813.5(CARD9):c.1104C>T (p.His368=) rs145052557
NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro) rs149712114
NM_052813.5(CARD9):c.1153G>C (p.Val385Leu) rs3124993
NM_052813.5(CARD9):c.1312-13CT[2] rs770532797
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs) rs746470735
NM_052813.5(CARD9):c.1383G>A (p.Pro461=) rs138344913
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_052813.5(CARD9):c.808-9C>A rs200458322
NM_052813.5(CARD9):c.820dup (p.Asp274fs) rs753050033
NM_052813.5(CARD9):c.883C>T (p.Gln295Ter) rs121918338

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