ClinVar Miner

Variants with conflicting interpretations studied for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Coded as:
Minimum review status of the submission for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome: Collection method of the submission for Pyogenic arthritis-pyoderma gangrenosum-acne 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 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
462 57 0 19 13 0 0 30

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
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome uncertain significance likely benign benign
uncertain significance 0 8 7
likely benign 8 0 19
benign 7 19 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
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 462 57 0 19 13 0 0 30

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_003978.5(PSTPIP1):c.1145C>T (p.Ala382Val) rs202205180 0.00022
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_003978.5(PSTPIP1):c.-124C>T rs760819203 0.00008
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=) rs368114895 0.00005
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755 0.00001
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys) rs760587319 0.00001
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln) rs776576205 0.00001
NM_003978.5(PSTPIP1):c.1119+5G>C rs756068066
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met) rs553718554

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