ClinVar Miner

Variants with conflicting interpretations studied for Autosomal dominant nocturnal frontal lobe epilepsy

Coded as:
Minimum review status of the submission for Autosomal dominant nocturnal frontal lobe epilepsy: Y axis collection method of the submission for Autosomal dominant nocturnal frontal lobe epilepsy:
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
135 61 1 42 41 0 2 75

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
Autosomal dominant nocturnal frontal lobe epilepsy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 1 1 1 0
uncertain significance 1 0 0 15 1
likely benign 0 0 16 0 8
benign 0 0 9 33 0

Condition to condition summary #

Total conditions: 8
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 48 0 26 17 0 0 43
Seizures 0 29 0 22 6 0 1 29
not provided 0 42 0 6 18 0 1 23
Nocturnal frontal lobe epilepsy 0 7 0 4 1 0 0 5
Epilepsy, nocturnal frontal lobe, type 1 0 2 1 1 1 0 1 3
Epilepsy, nocturnal frontal lobe, type 3 0 1 0 1 1 0 0 2
Epilepsy, nocturnal frontal lobe, type 4 0 2 0 0 2 0 0 2
Generalized seizures 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_000742.3(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
NM_000742.3(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000742.3(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.3(CHRNA2):c.1500C>T (p.Ile500=) rs143223159
NM_000742.3(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.3(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168
NM_000742.3(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950
NM_000742.3(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.3(CHRNA2):c.489C>T (p.Ala163=) rs535699325
NM_000742.3(CHRNA2):c.684C>T (p.Ser228=) rs143536618
NM_000742.3(CHRNA2):c.710C>A (p.Thr237Lys) rs140350483
NM_000742.3(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925
NM_000742.3(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000742.3(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000742.3(CHRNA2):c.913C>T (p.Leu305=) rs114294066
NM_000742.3(CHRNA2):c.984C>T (p.Ile328=) rs371858399
NM_000742.3(CHRNA2):c.987C>T (p.Gly329=) rs147530139
NM_000744.6(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.6(CHRNA4):c.1053C>T (p.Ile351=) rs61737042
NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met) rs121912266
NM_000744.6(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652
NM_000744.6(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.6(CHRNA4):c.1227_1228invTG (p.Val410Ile)
NM_000744.6(CHRNA4):c.1245G>A (p.Pro415=) rs200164578
NM_000744.6(CHRNA4):c.1269G>C (p.Lys423Asn) rs199916140
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.6(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.6(CHRNA4):c.1359C>T (p.His453=) rs121912276
NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000744.6(CHRNA4):c.1376G>A (p.Gly459Glu) rs753201154
NM_000744.6(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.6(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.6(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.6(CHRNA4):c.1550C>T (p.Ser517Leu) rs45622132
NM_000744.6(CHRNA4):c.1584G>A (p.Pro528=) rs199783192
NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.6(CHRNA4):c.1635G>A (p.Thr545=) rs121912283
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1662G>A (p.Pro554=) rs121912284
NM_000744.6(CHRNA4):c.1711G>A (p.Val571Ile) rs121912285
NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.6(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.6(CHRNA4):c.258C>T (p.Asn86=) rs140239470
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.6(CHRNA4):c.296G>A (p.Arg99His) rs143103435
NM_000744.6(CHRNA4):c.492C>T (p.Asp164=) rs200259564
NM_000744.6(CHRNA4):c.729G>A (p.Pro243=) rs121912253
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.6(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000744.6(CHRNA4):c.9A>G (p.Leu3=) rs80075498
NM_000748.2(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.2(CHRNB2):c.1128C>T (p.Leu376=) rs113116986
NM_000748.2(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.2(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.2(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832
NM_000748.2(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.2(CHRNB2):c.1236C>T (p.Gly412=) rs767533378
NM_000748.2(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000748.2(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000748.2(CHRNB2):c.1482A>G (p.Ser494=) rs8192486
NM_000748.2(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000748.2(CHRNB2):c.150C>T (p.Thr50=) rs149921259
NM_000748.2(CHRNB2):c.210+9A>G rs3926124
NM_000748.2(CHRNB2):c.772C>T (p.Leu258=) rs201514209
NM_000748.2(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000756.3(CRH):c.89C>G (p.Pro30Arg) rs748404250

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