ClinVar Miner

Variants in gene SCN2A 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 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
457 110 0 51 36 0 9 83

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 12 5 1 0
likely pathogenic 12 0 5 0 0
uncertain significance 5 5 0 33 14
likely benign 1 0 33 0 39
benign 0 0 14 39 0

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NM_021007.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_021007.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_021007.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_021007.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_021007.2(SCN2A):c.1402_1404delTCT (p.Ser468del) rs780584405
NM_021007.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_021007.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546
NM_021007.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973
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.1923T>C (p.Asn641=) rs780183614
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.2016+10A>G rs886042771
NM_021007.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156
NM_021007.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_021007.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308
NM_021007.2(SCN2A):c.2388+9C>A rs191955969
NM_021007.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956
NM_021007.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_021007.2(SCN2A):c.2562+5A>G rs374738441
NM_021007.2(SCN2A):c.2563-4C>A rs561375550
NM_021007.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_021007.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_021007.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407
NM_021007.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_021007.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_021007.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273
NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_021007.2(SCN2A):c.2919+8G>A rs552318566
NM_021007.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_021007.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_021007.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_021007.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
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.3456C>T (p.Ala1152=) rs144325450
NM_021007.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_021007.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_021007.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_021007.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_021007.2(SCN2A):c.387-10G>A rs2304015
NM_021007.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_021007.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302
NM_021007.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_021007.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_021007.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_021007.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_021007.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_021007.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_021007.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991
NM_021007.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_021007.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_021007.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_021007.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_021007.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_021007.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535
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.5319G>A (p.Ala1773=) rs373913233
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.5446G>T (p.Ala1816Ser) rs147084515
NM_021007.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_021007.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924
NM_021007.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_021007.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553
NM_021007.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
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.5919C>T (p.Pro1973=) rs73025979
NM_021007.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_021007.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_021007.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_021007.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_021007.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_021007.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_021007.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700
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.