ClinVar Miner

Variants in gene PTPN23 with conflicting interpretations

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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
1200 79 0 18 8 0 10 35

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 1 0 0 0
likely pathogenic 1 0 8 1 1
uncertain significance 0 8 0 7 2
likely benign 0 1 7 0 17
benign 0 1 2 17 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015466.4(PTPN23):c.3388G>A (p.Gly1130Ser) rs138329311 0.00677
NM_015466.4(PTPN23):c.781G>A (p.Glu261Lys) rs147122610 0.00384
NM_015466.4(PTPN23):c.3429C>T (p.Pro1143=) rs114781181 0.00312
NM_015466.4(PTPN23):c.2068C>T (p.Leu690=) rs116521545 0.00309
NM_015466.4(PTPN23):c.2148G>A (p.Pro716=) rs150385027 0.00259
NM_015466.4(PTPN23):c.1113G>A (p.Leu371=) rs143729247 0.00231
NM_015466.4(PTPN23):c.4149G>T (p.Pro1383=) rs147959396 0.00197
NM_015466.4(PTPN23):c.693C>T (p.Gly231=) rs145933393 0.00145
NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu) rs149197378 0.00127
NM_015466.4(PTPN23):c.4618A>G (p.Ile1540Val) rs111852098 0.00120
NM_015466.4(PTPN23):c.3545G>A (p.Arg1182Gln) rs148987427 0.00113
NM_015466.4(PTPN23):c.4179-5C>T rs112931729 0.00110
NM_015466.4(PTPN23):c.4578C>A (p.Pro1526=) rs144497417 0.00077
NM_015466.4(PTPN23):c.2375C>T (p.Pro792Leu) rs374555949 0.00070
NM_015466.4(PTPN23):c.1387T>C (p.Leu463=) rs149474517 0.00064
NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His) rs201017613 0.00051
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp) rs150712932 0.00016
NM_015466.4(PTPN23):c.2136G>A (p.Leu712=) rs539926264 0.00011
NM_015466.4(PTPN23):c.3748G>A (p.Glu1250Lys) rs148689441 0.00011
NM_015466.4(PTPN23):c.1653C>T (p.Ala551=) rs141629698 0.00009
NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln) rs577689618 0.00009
NM_015466.4(PTPN23):c.1748A>G (p.Lys583Arg) rs147293860 0.00008
NM_015466.4(PTPN23):c.546+10C>T rs200803095 0.00007
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491 0.00004
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg) rs770692989 0.00004
NM_015466.4(PTPN23):c.2486C>T (p.Pro829Leu) rs138076291 0.00001
NM_015466.4(PTPN23):c.499G>A (p.Val167Ile) rs377445101 0.00001
NM_015466.4(PTPN23):c.1081_1082del (p.Val361fs) rs2107717354
NM_015466.4(PTPN23):c.1569C>T (p.Val523=)
NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1]) rs552397269
NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3]) rs552397269
NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1]) rs760022693
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del) rs751809435
NM_015466.4(PTPN23):c.4651_4652dup (p.Leu1552fs) rs1576235873

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