ClinVar Miner

Variants in gene PNKP 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
1012 59 0 29 23 1 6 51

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 protective other
pathogenic 0 3 3 0 0 0 0
likely pathogenic 3 0 3 0 0 0 0
uncertain significance 4 4 0 21 8 1 1
likely benign 0 0 20 0 26 0 0
benign 0 0 7 26 0 0 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_007254.4(PNKP):c.817-47C>T rs3739198 0.01670
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_007254.4(PNKP):c.*15C>T rs1050332 0.00609
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_007254.4(PNKP):c.579-4G>A rs371834726 0.00011
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_007254.4(PNKP):c.817-12C>T rs369567366 0.00003
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850 0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.936+13dup rs3739200
Single allele

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