ClinVar Miner

Variants in gene PANK2 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
447 31 0 26 7 0 9 40

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 19 3 0 0
likely pathogenic 19 0 8 0 0
uncertain significance 3 8 0 7 0
likely benign 0 0 7 0 7
benign 0 0 0 7 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.905+22C>T rs71647841 0.00446
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_001386393.1(PANK2):c.960T>C (p.Thr320=) rs149583615 0.00180
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00026
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00013
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00011
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val) rs761156912 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184 0.00003
NM_001386393.1(PANK2):c.744A>C (p.Ser248=) rs778370524 0.00003
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00003
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) rs763496520 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly) rs768230831 0.00001
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912 0.00001
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650 0.00001
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.1083-13dup rs199905730
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_001386393.1(PANK2):c.1083-3_1083-2del rs760705943
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs) rs748911913
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp) rs974575417
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile) rs763608502
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del) rs1064794317
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872

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