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
147 48 1 4 14 0 2 20

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 12 1
likely benign 0 0 1 0 0
benign 0 0 0 3 0

Condition to condition summary #

Total conditions: 5
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 6 0 3 11 0 0 14
Seizures 0 9 0 0 4 0 1 5
not provided 0 40 0 0 2 0 1 3
Epilepsy, nocturnal frontal lobe, type 1 0 0 1 1 0 0 1 2
Nocturnal frontal lobe epilepsy 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
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HGVS dbSNP
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950
NM_000742.4(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met) rs121912266
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.1360G>A (p.Gly454Ser) rs78306886
NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.6(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832
NM_000748.3(CHRNB2):c.210+9A>G rs3926124
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000756.4(CRH):c.89C>G (p.Pro30Arg) rs748404250
NM_001256573.2(CHRNA4):c.699_700inv (p.Val234Ile)

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