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Links from MedGen

Items: 1 to 100 of 765

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:160097625
GRCh38:
Chr1:160127835
ATP1A2Familial hemiplegic migraineLikely benign
(Oct 21, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr1:160097391
GRCh38:
Chr1:160127601
ATP1A2Familial hemiplegic migraineLikely benign
(Oct 25, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr1:160097403
GRCh38:
Chr1:160127613
ATP1A2Familial hemiplegic migraineLikely benign
(May 19, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr1:160105211
GRCh38:
Chr1:160135421
ATP1A2Familial hemiplegic migraineLikely benign
(Oct 9, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr1:160090729
GRCh38:
Chr1:160120939
ATP1A2A16TFamilial hemiplegic migraineUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr1:160105794
GRCh38:
Chr1:160136004
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 24, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr1:160109759
GRCh38:
Chr1:160139969
ATP1A2R1007Wnot provided, Familial hemiplegic migraineConflicting interpretations of pathogenicity
(Jan 12, 2023)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr1:160109716-160109718
GRCh38:
Chr1:160139926-160139928
ATP1A2L994delFamilial hemiplegic migrainePathogenic
(Oct 14, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:160097502-160097504
GRCh38:
Chr1:160127712-160127714
ATP1A2F305delFamilial hemiplegic migraineLikely pathogenic
(Sep 24, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:160094110
GRCh38:
Chr1:160124320
LOC126805890, ATP1A2E174KFamilial hemiplegic migraineUncertain significance
(May 25, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:160094213
GRCh38:
Chr1:160124423
ATP1A2, LOC126805890G208DFamilial hemiplegic migraineUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:160098892-160098893
GRCh38:
Chr1:160129102-160129103
ATP1A2Familial hemiplegic migraineLikely benign
(Jul 31, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:160099201
GRCh38:
Chr1:160129411
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 21, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:160091034
GRCh38:
Chr1:160121244
ATP1A2L57PFamilial hemiplegic migraineUncertain significance
(Sep 4, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:160106081
GRCh38:
Chr1:160136291
ATP1A2Familial hemiplegic migraineLikely benign
(Jun 23, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:160085674
GRCh38:
Chr1:160115884
ATP1A2Familial hemiplegic migraineLikely benign
(May 28, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:160092987
GRCh38:
Chr1:160123197
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 27, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr1:160106675-160106676
GRCh38:
Chr1:160136885-160136886
ATP1A2Familial hemiplegic migraineLikely benign
(May 16, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:160100367
GRCh38:
Chr1:160130577
ATP1A2C603GFamilial hemiplegic migraineUncertain significance
(Jun 12, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:160094955
GRCh38:
Chr1:160125165
ATP1A2, LOC126805890Familial hemiplegic migraineLikely benign
(Jul 17, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:160094967
GRCh38:
Chr1:160125177
LOC126805890, ATP1A2Familial hemiplegic migraineLikely benign
(Jul 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:160095063
GRCh38:
Chr1:160125273
ATP1A2, LOC126805890Familial hemiplegic migraineLikely benign
(Sep 29, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:160106415
GRCh38:
Chr1:160136625
ATP1A2Familial hemiplegic migraineLikely benign
(Feb 8, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:160104262
GRCh38:
Chr1:160134472
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 31, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr1:160099139
GRCh38:
Chr1:160129349
ATP1A2Familial hemiplegic migraineLikely benign
(Jun 15, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:160109787
GRCh38:
Chr1:160139997
ATP1A2Familial hemiplegic migraineLikely benign
(Jul 30, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:160100406
GRCh38:
Chr1:160130616
ATP1A2Familial hemiplegic migraineLikely benign
(May 10, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:160109680
GRCh38:
Chr1:160139890
ATP1A2Familial hemiplegic migraineUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:160098587
GRCh38:
Chr1:160128797
ATP1A2H388RFamilial hemiplegic migraineUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:160100011
GRCh38:
Chr1:160130221
ATP1A2Familial hemiplegic migraineLikely benign
(Oct 17, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr1:160091022
GRCh38:
Chr1:160121232
ATP1A2Y53CFamilial hemiplegic migraineUncertain significance
(Jan 20, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:160091038
GRCh38:
Chr1:160121248
ATP1A2Familial hemiplegic migraineLikely benign
(Apr 18, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:160105775
GRCh38:
Chr1:160135985
ATP1A2T811AFamilial hemiplegic migraineUncertain significance
(May 8, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:160092996
GRCh38:
Chr1:160123206
ATP1A2Familial hemiplegic migraineUncertain significance
(Sep 25, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr1:160097549
GRCh38:
Chr1:160127759
ATP1A2V319DFamilial hemiplegic migraineUncertain significance
(May 7, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:160111100
GRCh38:
Chr1:160141310
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 21, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:160090721
GRCh38:
Chr1:160120931
ATP1A2A13VFamilial hemiplegic migraineUncertain significance
(May 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:160093089
GRCh38:
Chr1:160123299
ATP1A2Familial hemiplegic migraineLikely benign
(Apr 19, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:160099929
GRCh38:
Chr1:160130139
ATP1A2H500LFamilial hemiplegic migraineUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:160098456
GRCh38:
Chr1:160128666
ATP1A2Familial hemiplegic migraineLikely benign
(Apr 13, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:160097355
GRCh38:
Chr1:160127565
ATP1A2Familial hemiplegic migraineLikely benign
(Apr 10, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:160106378
GRCh38:
Chr1:160136588
ATP1A2G861VFamilial hemiplegic migraineUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:160100027
GRCh38:
Chr1:160130237
ATP1A2D533HFamilial hemiplegic migraineUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:160094101
GRCh38:
Chr1:160124311
ATP1A2, LOC126805890R171WFamilial hemiplegic migraineUncertain significance
(May 8, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:160090696
GRCh38:
Chr1:160120906
ATP1A2A5SFamilial hemiplegic migraineUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:160093225
GRCh38:
Chr1:160123435
ATP1A2Familial hemiplegic migraineLikely benign
(Apr 26, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:160109431
GRCh38:
Chr1:160139641
ATP1A2N948HFamilial hemiplegic migraineUncertain significance
(Mar 21, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:160106166
GRCh38:
Chr1:160136376
ATP1A2Familial hemiplegic migraineUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr1:160099200
GRCh38:
Chr1:160129410
ATP1A2Familial hemiplegic migraineLikely benign
(Mar 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:160109750
GRCh38:
Chr1:160139960
ATP1A2L1004FFamilial hemiplegic migraineUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:160105349
GRCh38:
Chr1:160135559
ATP1A2Familial hemiplegic migraineLikely benign
(Mar 12, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:160093157
GRCh38:
Chr1:160123367
ATP1A2L111PFamilial hemiplegic migraineUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:160104929
GRCh38:
Chr1:160135139
ATP1A2Familial hemiplegic migraineLikely benign
(Mar 18, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:160100279
GRCh38:
Chr1:160130489
ATP1A2Familial hemiplegic migraineLikely benign
(Mar 2, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:160106510
GRCh38:
Chr1:160136720
ATP1A2Familial hemiplegic migraineUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:160105732
GRCh38:
Chr1:160135942
ATP1A2Familial hemiplegic migraineLikely benign
(Feb 23, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr1:160105283
GRCh38:
Chr1:160135493
ATP1A2Familial hemiplegic migraineLikely benign
(Feb 21, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:160093172
GRCh38:
Chr1:160123382
ATP1A2Q116RFamilial hemiplegic migraineUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:160097441
GRCh38:
Chr1:160127651
ATP1A2A283EFamilial hemiplegic migraineUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:160097338
GRCh38:
Chr1:160127548
ATP1A2Familial hemiplegic migraineLikely benign
(Jan 28, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:160095059
GRCh38:
Chr1:160125269
ATP1A2, LOC126805890Familial hemiplegic migraineLikely benign
(Sep 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:160105747
GRCh38:
Chr1:160135957
ATP1A2Familial hemiplegic migraineLikely benign
(Jan 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr1:160104923
GRCh38:
Chr1:160135133
ATP1A2Familial hemiplegic migraineLikely benign
(Jan 21, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:160105050
GRCh38:
Chr1:160135260
ATP1A2Q694KFamilial hemiplegic migraineUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:160106150
GRCh38:
Chr1:160136360
ATP1A2Familial hemiplegic migraineLikely benign
(May 22, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:160105305
GRCh38:
Chr1:160135515
ATP1A2I733VFamilial hemiplegic migraineUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:160093010
GRCh38:
Chr1:160123220
ATP1A2T62SFamilial hemiplegic migraineUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:160098785
GRCh38:
Chr1:160128995
ATP1A2K411RFamilial hemiplegic migraineUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr1:160106675
GRCh38:
Chr1:160136885
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 19, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:160098516
GRCh38:
Chr1:160128726
ATP1A2Familial hemiplegic migraineLikely benign
(Jul 6, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:160100005
GRCh38:
Chr1:160130215
ATP1A2Familial hemiplegic migraineLikely benign
(Jun 10, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:160104920
GRCh38:
Chr1:160135130
ATP1A2Familial hemiplegic migraineLikely benign
(Mar 14, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:160100301
GRCh38:
Chr1:160130511
ATP1A2C581RFamilial hemiplegic migraineUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:160109541-160109544
GRCh38:
Chr1:160139751-160139754
ATP1A2Familial hemiplegic migraineLikely benign
(Feb 1, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:160104921
GRCh38:
Chr1:160135131
ATP1A2Familial hemiplegic migraineLikely benign
(Jul 6, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:160106451
GRCh38:
Chr1:160136661
ATP1A2Familial hemiplegic migraineLikely benign
(Sep 15, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:160109792-160109795
GRCh38:
Chr1:160140002-160140005
ATP1A2Familial hemiplegic migraineLikely benign
(Mar 14, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:160109759
GRCh38:
Chr1:160139969
ATP1A2Familial hemiplegic migraineLikely benign
(Sep 23, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr1:160105666
GRCh38:
Chr1:160135876
ATP1A2Familial hemiplegic migraineLikely benign
(Dec 22, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr1:160105768
GRCh38:
Chr1:160135978
ATP1A2D808EFamilial hemiplegic migraineUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr1:160085672
GRCh38:
Chr1:160115882
ATP1A2Familial hemiplegic migraineLikely benign
(Mar 29, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr1:160093857
GRCh38:
Chr1:160124067
ATP1A2Familial hemiplegic migraineLikely benign
(Sep 27, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:160106447
GRCh38:
Chr1:160136657
ATP1A2R884HFamilial hemiplegic migraineUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:160094158
GRCh38:
Chr1:160124368
ATP1A2, LOC126805890E190KFamilial hemiplegic migraineUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr1:160106504
GRCh38:
Chr1:160136714
ATP1A2W903*Familial hemiplegic migrainePathogenic
(Dec 13, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr1:160100404
GRCh38:
Chr1:160130614
ATP1A2Familial hemiplegic migraineLikely benign
(Dec 16, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr1:160098754
GRCh38:
Chr1:160128964
ATP1A2Familial hemiplegic migraineLikely benign
(Sep 1, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:160098750-160098751
GRCh38:
Chr1:160128960-160128961
ATP1A2Familial hemiplegic migraineBenign
(Jan 31, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:160100285
GRCh38:
Chr1:160130495
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 23, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:160100068
GRCh38:
Chr1:160130278
ATP1A2Familial hemiplegic migraineLikely benign
(Jan 16, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:160091032
GRCh38:
Chr1:160121242
ATP1A2Familial hemiplegic migraineLikely benign
(Oct 7, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr1:160106792
GRCh38:
Chr1:160137002
ATP1A2Familial hemiplegic migraineLikely benign
(Feb 8, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr1:160109505
GRCh38:
Chr1:160139715
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 19, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:160097326
GRCh38:
Chr1:160127536
ATP1A2Familial hemiplegic migraineBenign
(Oct 22, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:160098819
GRCh38:
Chr1:160129029
ATP1A2Familial hemiplegic migraineLikely benign
(Oct 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:160093056
GRCh38:
Chr1:160123266
ATP1A2Familial hemiplegic migraineLikely benign
(Oct 8, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:160100201
GRCh38:
Chr1:160130411
ATP1A2Familial hemiplegic migraineBenign
(Sep 6, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:160095039
GRCh38:
Chr1:160125249
ATP1A2, LOC126805890Familial hemiplegic migraineLikely benign
(Sep 30, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:160093716
GRCh38:
Chr1:160123926
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 16, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:160109448
GRCh38:
Chr1:160139658
ATP1A2Familial hemiplegic migraineLikely benign
(Aug 2, 2022)
criteria provided, single submitter
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