ClinVar Miner

Variants with conflicting interpretations studied for Early Infantile Epileptic Encephalopathy, Autosomal Dominant

Coded as:
Minimum review status of the submission for Early Infantile Epileptic Encephalopathy, Autosomal Dominant: Y axis collection method of the submission for Early Infantile Epileptic Encephalopathy, Autosomal Dominant:
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
149 74 0 78 43 0 5 113

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, Autosomal Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 2 0 0 28 12
likely benign 2 1 11 0 72
benign 0 0 0 6 0

Condition to condition summary #

Total conditions: 9
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 19 0 70 37 0 0 103
Early infantile epileptic encephalopathy 0 4 0 40 12 0 0 52
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 0 8 0 17 4 0 0 21
not provided 0 21 0 14 6 0 0 20
Seizures 0 8 0 14 5 0 0 19
History of neurodevelopmental disorder 0 25 0 14 3 0 0 17
Rolandic epilepsy 0 0 0 0 0 0 4 4
Abnormality of brain morphology 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 5 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 113
Download table as spreadsheet
HGVS dbSNP
NM_001032221.3(STXBP1):c.38-3T>C rs138763389
NM_001130438.2(SPTAN1):c.1221+11C>T rs113357847
NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.2(SPTAN1):c.1806+15G>T rs372203791
NM_001130438.2(SPTAN1):c.1807-11T>C rs139049596
NM_001130438.2(SPTAN1):c.2194-13T>G rs28676915
NM_001130438.2(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.2(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.2(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.2(SPTAN1):c.2880G>A (p.Val960=) rs150731568
NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.2(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.2(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602
NM_001130438.2(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
NM_001130438.2(SPTAN1):c.3520-14C>G rs142682344
NM_001130438.2(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.2(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.2(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543
NM_001130438.2(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626
NM_001130438.2(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529
NM_001130438.2(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017
NM_001130438.2(SPTAN1):c.4047-14G>T rs558154123
NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.2(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
NM_001130438.2(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.2(SPTAN1):c.4604G>A (p.Arg1535His) rs745394212
NM_001130438.2(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.2(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.2(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.2(SPTAN1):c.5724C>T (p.Ala1908=) rs886063507
NM_001130438.2(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
NM_001130438.2(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.2(SPTAN1):c.6159C>T (p.His2053=) rs150902677
NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543
NM_001130438.2(SPTAN1):c.6654C>T (p.His2218=) rs372825476
NM_001130438.2(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.2(SPTAN1):c.6708-7C>T rs16930539
NM_001130438.2(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509
NM_001130438.2(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.2(SPTAN1):c.7160+10_7160+13delTTAA rs554161838
NM_001130438.2(SPTAN1):c.7309-12_7309-11delCT rs770948927
NM_001130438.2(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952
NM_001130438.2(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_003165.3(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.3(STXBP1):c.1356C>T (p.Thr452=) rs35099393
NM_003165.3(STXBP1):c.1359+15C>T rs374034782
NM_003165.3(STXBP1):c.1385C>T (p.Pro462Leu) rs752394761
NM_003165.3(STXBP1):c.1548-7T>C rs534556046
NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.3(STXBP1):c.1662C>T (p.Tyr554=) rs142595450
NM_003165.3(STXBP1):c.1702+10C>T rs147607230
NM_003165.3(STXBP1):c.247-8A>G rs199827018
NM_003165.3(STXBP1):c.255C>T (p.His85=) rs768884290
NM_003165.3(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.3(STXBP1):c.325+8C>T rs117372398
NM_003165.3(STXBP1):c.807C>T (p.Ser269=) rs561329680
NM_003165.3(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.3(STXBP1):c.902+9C>A rs200737004
NM_014191.3(SCN8A):c.*3_*5delGAG rs555793953
NM_014191.3(SCN8A):c.-67C>T rs374729451
NM_014191.3(SCN8A):c.1173C>T (p.Phe391=) rs886049582
NM_014191.3(SCN8A):c.141C>T (p.Asp47=) rs149013279
NM_014191.3(SCN8A):c.1677C>T (p.His559=) rs202212399
NM_014191.3(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.3(SCN8A):c.2371-6A>G rs187002252
NM_014191.3(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_014191.3(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.3(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.3(SCN8A):c.3942+7T>C rs757990460
NM_014191.3(SCN8A):c.402T>C (p.Phe134=) rs559668426
NM_014191.3(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.3(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.3(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.3(SCN8A):c.4795+11T>C rs143139673
NM_014191.3(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.3(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.3(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_021007.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_021007.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_021007.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_021007.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_021007.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_021007.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_021007.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_021007.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_021007.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_021007.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_021007.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_021007.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352
NM_021007.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_021007.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_021007.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_021007.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_021007.2(SCN2A):c.387-10G>A rs2304015
NM_021007.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_021007.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_021007.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_021007.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_021007.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_021007.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_021007.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_021007.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_021007.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_021007.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_021007.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_021007.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_021007.2(SCN2A):c.960T>C (p.Ile320=) rs185590667

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.