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
597 121 0 61 45 0 13 103

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 16 6 1 1
likely pathogenic 16 0 9 0 0
uncertain significance 6 9 0 42 15
likely benign 1 0 42 0 45
benign 1 0 15 45 0

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_001040142.2(SCN2A):c.1536A>G (p.Glu512=) rs201680546
NM_001040142.2(SCN2A):c.1571G>A (p.Arg524Gln) rs186154973
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu) rs148275498
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_001040142.2(SCN2A):c.1904T>C (p.Leu635Pro) rs558887330
NM_001040142.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala) rs796053111
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574
NM_001040142.2(SCN2A):c.2157A>G (p.Glu719=) rs779574574
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile) rs142128956
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441
NM_001040142.2(SCN2A):c.2563-4C>A rs561375550
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.2919+8G>A rs552318566
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841
NM_001040142.2(SCN2A):c.4134C>T (p.Ser1378=) rs145465905
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535
NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=) rs373913233
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.5544T>C (p.Ser1848=) rs761713186
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=) rs752845880
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.606-159A>G rs1553567473
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys) rs149987700
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054

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