ClinVar Miner

Variants with conflicting interpretations studied for Familial hemiplegic migraine

Coded as:
Minimum review status of the submission for Familial hemiplegic migraine: Y axis collection method of the submission for Familial hemiplegic migraine:
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
61 127 0 43 22 0 2 62

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
Familial hemiplegic migraine pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 17 10
likely benign 1 0 7 0 34
benign 0 0 0 12 0

Condition to condition summary #

Total conditions: 11
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 16 0 32 17 0 0 47
not provided 0 23 0 29 16 0 0 42
Familial hemiplegic migraine 237 4 0 6 3 0 0 9
Alternating hemiplegia of childhood 0 80 0 6 2 0 0 8
History of neurodevelopmental disorder 0 10 0 5 3 0 0 8
Severe myoclonic epilepsy in infancy 0 1 0 3 1 0 0 4
Familial hemiplegic migraine type 2 0 0 0 2 0 0 1 3
Early infantile epileptic encephalopathy 0 1 0 2 0 0 0 2
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 2 0 2 0 0 0 2
Rolandic epilepsy 0 0 0 0 0 0 1 1
Seizures; Generalized tonic-clonic seizures; Absence seizures 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_000702.4(ATP1A2):c.-48C>G rs41265761
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542
NM_000702.4(ATP1A2):c.152G>A (p.Arg51His) rs144106169
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941
NM_006920.6(SCN1A):c.1000C>G (p.Leu334Val) rs201870762
NM_006920.6(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_006920.6(SCN1A):c.1171-10_1171-9del rs372840031
NM_006920.6(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_006920.6(SCN1A):c.1410C>T (p.Ser470=) rs142571794
NM_006920.6(SCN1A):c.1662+9C>A rs7559148
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.2011-5del rs549232924
NM_006920.6(SCN1A):c.2143+11A>C rs201604887
NM_006920.6(SCN1A):c.2259T>C (p.Val753=) rs6432860
NM_006920.6(SCN1A):c.2388C>T (p.Phe796=) rs145101180
NM_006920.6(SCN1A):c.2856T>C (p.Ala952=) rs144679294
NM_006920.6(SCN1A):c.3166G>A (p.Ala1056Thr) rs2298771
NM_006920.6(SCN1A):c.333A>G (p.Leu111=) rs201592683
NM_006920.6(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3540T>C (p.Cys1180=) rs750943685
NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.6(SCN1A):c.4518A>G (p.Lys1506=) rs374087499
NM_006920.6(SCN1A):c.4548+12C>T rs886055042
NM_006920.6(SCN1A):c.4698T>C (p.Asn1566=) rs145296488
NM_006920.6(SCN1A):c.4912C>T (p.Leu1638=) rs148546224
NM_006920.6(SCN1A):c.5385G>A (p.Glu1795=) rs140237315
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053

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