ClinVar Miner

Variants with conflicting interpretations studied for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

Coded as:
Minimum review status of the submission for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7: Collection method of the submission for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7:
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 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
2631 74 0 16 86 0 0 101

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
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 uncertain significance likely benign benign
uncertain significance 0 5 2
likely benign 62 0 0
benign 23 16 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 17 0 14 45 0 0 59
Inborn genetic diseases 0 59 0 2 56 0 0 57
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2796 5 0 0 5 0 0 5

All variants with conflicting interpretations #

Total variants: 101
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.6672-16C>T rs79610318 0.01836
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00232
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_005045.4(RELN):c.1442-8T>C rs181761096 0.00212
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290 0.00038
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_005045.4(RELN):c.877G>A (p.Asp293Asn) rs200289289 0.00033
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366 0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189 0.00024
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005045.4(RELN):c.1013T>G (p.Val338Gly) rs200513558 0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382 0.00014
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 0.00013
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 0.00012
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903 0.00011
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577 0.00011
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585 0.00007
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.1669T>G (p.Phe557Val) rs757726526 0.00006
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly) rs565236668 0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser) rs755596079 0.00006
NM_005045.4(RELN):c.5345G>A (p.Arg1782His) rs747527621 0.00006
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_005045.4(RELN):c.5002A>G (p.Met1668Val) rs762369288 0.00005
NM_005045.4(RELN):c.1649G>T (p.Arg550Met) rs773589573 0.00004
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile) rs748901010 0.00004
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val) rs764185528 0.00004
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala) rs371476408 0.00004
NM_005045.4(RELN):c.8051G>A (p.Arg2684His) rs201157987 0.00004
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile) rs753782715 0.00003
NM_005045.4(RELN):c.850G>A (p.Val284Met) rs149397714 0.00003
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu) rs761738403 0.00003
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640 0.00002
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp) rs115831287 0.00002
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg) rs780325204 0.00002
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala) rs140090640 0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr) rs371614773 0.00002
NM_005045.4(RELN):c.7916G>A (p.Arg2639His) rs369735904 0.00002
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu) rs778861276 0.00002
NM_005045.4(RELN):c.1480A>G (p.Ile494Val) rs372015884 0.00001
NM_005045.4(RELN):c.1696T>A (p.Ser566Thr) rs200058688 0.00001
NM_005045.4(RELN):c.1796G>A (p.Arg599His) rs201371180 0.00001
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu) rs114993407 0.00001
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847 0.00001
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu) rs896069835 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_005045.4(RELN):c.589A>G (p.Ser197Gly) rs756193988 0.00001
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro) rs1190177632 0.00001
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu) rs755660948 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr) rs779530655
NM_005045.4(RELN):c.1789C>T (p.His597Tyr) rs779014769
NM_005045.4(RELN):c.4933A>T (p.Ile1645Leu)
NM_005045.4(RELN):c.5006G>C (p.Ser1669Thr)
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln) rs372887562
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn) rs768054802
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln) rs141115137
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg) rs73714410

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