ClinVar Miner

Variants with conflicting interpretations studied for Early infantile epileptic encephalopathy 12

Coded as:
Minimum review status of the submission for Early infantile epileptic encephalopathy 12: Y axis collection method of the submission for Early infantile epileptic encephalopathy 12:
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 Variants with at least 2 submissions 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 kind of conflict
103 49 0 43 44 0 3 71

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
Early infantile epileptic encephalopathy 12 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
uncertain significance 2 2 0 5 2
likely benign 0 0 19 0 8
benign 0 0 19 36 0

Condition to condition summary #

Total conditions: 11
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 30 0 27 9 0 0 34
not provided 0 34 0 7 18 0 1 26
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 5 0 6 13 0 0 19
Early infantile epileptic encephalopathy 10 0 7 0 4 7 0 1 12
History of neurodevelopmental disorder 0 20 0 9 2 0 0 11
Epileptic encephalopathy 0 4 0 5 5 0 0 10
Seizures 0 17 0 8 1 0 0 9
Early infantile epileptic encephalopathy 12 212 9 0 2 0 0 0 2
Inborn genetic diseases 0 1 0 0 0 0 2 2
Ataxia-oculomotor apraxia 4 0 1 0 0 0 0 1 1
Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4 0 4 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
HGVS dbSNP
NM_007254.2(PNKP):c.603dupT rs796052859
NM_007254.3(PNKP):c.1009G>C (p.Glu337Gln) rs780121125
NM_007254.3(PNKP):c.1029+2T>C rs199919568
NM_007254.3(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.3(PNKP):c.1123G>T (p.Gly375Trp) rs786203983
NM_007254.3(PNKP):c.1126+9C>T rs3739202
NM_007254.3(PNKP):c.1127-8C>T rs3739203
NM_007254.3(PNKP):c.1188+8delC rs763782151
NM_007254.3(PNKP):c.1189-10delG rs3739205
NM_007254.3(PNKP):c.1298+6G>A rs578207030
NM_007254.3(PNKP):c.1299-6C>T rs112635688
NM_007254.3(PNKP):c.1302C>T (p.Tyr434=) rs747244348
NM_007254.3(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
NM_007254.3(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.3(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.3(PNKP):c.1387-3_1387-2delCA rs760066611
NM_007254.3(PNKP):c.1433T>G (p.Val478Gly) rs3739206
NM_007254.3(PNKP):c.1441G>A (p.Gly481Ser) rs146941866
NM_007254.3(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.3(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.3(PNKP):c.1522G>A (p.Glu508Lys) rs146478958
NM_007254.3(PNKP):c.1557C>T (p.Ser519=) rs142180374
NM_007254.3(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.3(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.3(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.3(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.3(PNKP):c.579-5C>T rs767753048
NM_007254.3(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.3(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007254.3(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.3(PNKP):c.636+7G>A rs3739187
NM_007254.3(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.3(PNKP):c.678G>A (p.Lys226=) rs141969535
NM_007254.3(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.3(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.3(PNKP):c.865+9C>T rs1555811201
NM_007254.3(PNKP):c.876A>G (p.Gly292=) rs3739199
NM_007254.3(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_015192.3(PLCB1):c.1167+7T>C rs45466294
NM_015192.3(PLCB1):c.1230G>A (p.Ser410=) rs148848282
NM_015192.3(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015192.3(PLCB1):c.1491C>T (p.Phe497=) rs145869401
NM_015192.3(PLCB1):c.1678+10C>T rs369652433
NM_015192.3(PLCB1):c.1761A>G (p.Val587=) rs143755415
NM_015192.3(PLCB1):c.1881G>A (p.Gln627=) rs45492700
NM_015192.3(PLCB1):c.2088C>T (p.Tyr696=) rs189186909
NM_015192.3(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434
NM_015192.3(PLCB1):c.2199G>A (p.Val733=) rs8118206
NM_015192.3(PLCB1):c.2413+9C>T rs138442805
NM_015192.3(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824
NM_015192.3(PLCB1):c.2565G>A (p.Ala855=) rs2076413
NM_015192.3(PLCB1):c.2673T>G (p.Pro891=) rs142813933
NM_015192.3(PLCB1):c.2841A>G (p.Glu947=) rs35245209
NM_015192.3(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.3(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839
NM_015192.3(PLCB1):c.3120A>G (p.Gln1040=) rs61755436
NM_015192.3(PLCB1):c.3129G>T (p.Thr1043=) rs141102170
NM_015192.3(PLCB1):c.3202T>C (p.Leu1068=) rs41275588
NM_015192.3(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202
NM_015192.3(PLCB1):c.3584A>G (p.His1195Arg) rs186429469
NM_015192.3(PLCB1):c.458A>T (p.Glu153Val) rs45496299
NM_015192.3(PLCB1):c.582T>C (p.Leu194=) rs150770296
NM_015192.3(PLCB1):c.627A>G (p.Pro209=) rs151006778
NM_015192.3(PLCB1):c.639A>C (p.Arg213Ser) rs140899287
NM_015192.3(PLCB1):c.714A>C (p.Pro238=) rs147567110
NM_015192.3(PLCB1):c.724G>A (p.Val242Ile) rs200567140
NM_015192.3(PLCB1):c.816A>G (p.Gln272=) rs773100834
NM_015192.3(PLCB1):c.924A>G (p.Ser308=) rs6056003
NM_015192.3(PLCB1):c.99+8T>C rs6086350

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