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Items: 1 to 100 of 134

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
CHRNA1Congenital myasthenic syndrome 1B, fast-channelPathogenic
(Dec 15, 2008)
no assertion criteria provided
2.
CHRNA1Congenital myasthenic syndrome 1B, fast-channelPathogenic
(Dec 15, 2008)
no assertion criteria provided
3.
CHRNA1Lethal multiple pterygium syndromePathogenic
(Feb 1, 2008)
no assertion criteria provided
4.
CHRNA1Congenital myasthenic syndrome 1B, fast-channelPathogenic
(Feb 1, 2003)
no assertion criteria provided
5.
GRCh37:
Chr2:175612391
GRCh38:
Chr2:174747663
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr2:175612426
GRCh38:
Chr2:174747698
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr2:175612430
GRCh38:
Chr2:174747702
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr2:175612438
GRCh38:
Chr2:174747710
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr2:175612441
GRCh38:
Chr2:174747713
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr2:175612494
GRCh38:
Chr2:174747766
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr2:175612564
GRCh38:
Chr2:174747836
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr2:175612577
GRCh38:
Chr2:174747849
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr2:175612881
GRCh38:
Chr2:174748153
CHRNA1not providedUncertain significance
(Feb 28, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr2:175612893
GRCh38:
Chr2:174748165
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Jan 6, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr2:175612894
GRCh38:
Chr2:174748166
CHRNA1Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, Congenital Myasthenic Syndrome, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Oct 27, 2017)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:175612905
GRCh38:
Chr2:174748177
CHRNA1Lethal multiple pterygium syndrome, Seizures, not provided,
Autism, seizures
Pathogenic/Likely pathogenic
(Mar 16, 2018)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr2:175612906
GRCh38:
Chr2:174748178
CHRNA1not specifiedLikely benigncriteria provided, single submitter
18.
GRCh37:
Chr2:175612912
GRCh38:
Chr2:174748184
CHRNA1Myasthenic syndrome, slow-channel congenitalPathogenic
(Jul 1, 2006)
no assertion criteria provided
19.
GRCh37:
Chr2:175612932
GRCh38:
Chr2:174748204
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr2:175612933
GRCh38:
Chr2:174748205
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr2:175612972
GRCh38:
Chr2:174748244
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Jan 19, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr2:175612978
GRCh38:
Chr2:174748250
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr2:175612979
GRCh38:
Chr2:174748251
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr2:175613021
GRCh38:
Chr2:174748293
CHRNA1not specifiedBenigncriteria provided, single submitter
25.
GRCh37:
Chr2:175613273
GRCh38:
Chr2:174748545
CHRNA1not specifiedBenigncriteria provided, single submitter
26.
GRCh37:
Chr2:175613298
GRCh38:
Chr2:174748570
CHRNA1not specifiedLikely benign
(Apr 7, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr2:175613317
GRCh38:
Chr2:174748589
CHRNA1Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, not specified,
Congenital Myasthenic Syndrome, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Dec 19, 2017)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr2:175613351
GRCh38:
Chr2:174748623
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Oct 27, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr2:175613397
GRCh38:
Chr2:174748669
CHRNA1not providedUncertain significance
(Feb 28, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr2:175613411
GRCh38:
Chr2:174748683
CHRNA1Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 1B, fast-channel, Myasthenic syndrome, slow-channel congenital
Conflicting interpretations of pathogenicity
(Oct 30, 2017)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr2:175613462
GRCh38:
Chr2:174748734
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Mar 19, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr2:175613462
GRCh38:
Chr2:174748734
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Jul 21, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr2:175613477
GRCh38:
Chr2:174748749
CHRNA1Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, not specified,
Congenital Myasthenic Syndrome, Dominant/Recessive
Benign/Likely benign
(Dec 23, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:175613483
GRCh38:
Chr2:174748755
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(May 11, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr2:175613578-175613580
GRCh38:
Chr2:174748850-174748852
CHRNA1not specifiedBenigncriteria provided, single submitter
36.
GRCh37:
Chr2:175614665
GRCh38:
Chr2:174749937
CHRNA1Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, Congenital Myasthenic Syndrome, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Sep 29, 2017)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr2:175614716
GRCh38:
Chr2:174749988
CHRNA1Multiple pterygium syndrome Escobar type, not specified, Congenital Myasthenic Syndrome, Dominant/Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:175614728
GRCh38:
Chr2:174750000
CHRNA1Lethal multiple pterygium syndrome, not specifiedConflicting interpretations of pathogenicity
(Dec 28, 2017)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr2:175614730
GRCh38:
Chr2:174750002
CHRNA1not providedLikely pathogenic
(Apr 6, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr2:175614734-175614742
GRCh38:
Chr2:174750006-174750014
CHRNA1not specifiedUncertain significance
(Dec 14, 2015)
criteria provided, single submitter
41.
GRCh37:
Chr2:175614753
GRCh38:
Chr2:174750025
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Aug 3, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr2:175614763
GRCh38:
Chr2:174750035
CHRNA1Congenital myasthenic syndrome 1B, fast-channelPathogenic
(Mar 1, 1999)
no assertion criteria provided
43.
GRCh37:
Chr2:175614764
GRCh38:
Chr2:174750036
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Apr 6, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr2:175614792
GRCh38:
Chr2:174750064
CHRNA1not providedLikely pathogenic
(Oct 31, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr2:175614810
GRCh38:
Chr2:174750082
CHRNA1Myasthenic syndrome, slow-channel congenitalPathogenic
(May 1, 1997)
no assertion criteria provided
46.
GRCh37:
Chr2:175614850
GRCh38:
Chr2:174750122
CHRNA1Congenital myasthenic syndrome 1B, fast-channelPathogenic
(Apr 13, 2004)
no assertion criteria provided
47.
GRCh37:
Chr2:175614855
GRCh38:
Chr2:174750127
CHRNA1Myasthenic syndrome, slow-channel congenitalPathogenic
(May 1, 1997)
no assertion criteria provided
48.
GRCh37:
Chr2:175614863
GRCh38:
Chr2:174750135
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr2:175614871
GRCh38:
Chr2:174750143
CHRNA1Myasthenic syndrome, slow-channel congenital, Inborn genetic diseasesLikely pathogenic
(Apr 12, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr2:175614896
GRCh38:
Chr2:174750168
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Apr 3, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr2:175614908-175614909
GRCh38:
Chr2:174750180-174750181
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr2:175614909-175614910
GRCh38:
Chr2:174750181-174750182
CHRNA1Multiple pterygium syndrome Escobar type, not specified, Congenital Myasthenic Syndrome, Dominant/Recessive
Benign
(Mar 14, 2018)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:175614909
GRCh38:
Chr2:174750181
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr2:175618231
GRCh38:
Chr2:174753503
CHRNA1not providedLikely pathogenic
(Mar 24, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr2:175618240
GRCh38:
Chr2:174753512
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Feb 7, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr2:175618252
GRCh38:
Chr2:174753524
CHRNA1Congenital myasthenic syndrome 1B, fast-channelPathogenic
(Mar 1, 1999)
no assertion criteria provided
57.
GRCh37:
Chr2:175618260
GRCh38:
Chr2:174753532
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Apr 2, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr2:175618272
GRCh38:
Chr2:174753544
CHRNA1Myasthenic syndrome, slow-channel congenitalPathogenic
(Jun 15, 1999)
no assertion criteria provided
59.
GRCh37:
Chr2:175618272
GRCh38:
Chr2:174753544
CHRNA1Myasthenic syndrome, slow-channel congenitalPathogenic
(Jun 15, 1999)
no assertion criteria provided
60.
GRCh37:
Chr2:175618286
GRCh38:
Chr2:174753558
CHRNA1Lethal multiple pterygium syndrome, not providedBenign/Likely benign
(Feb 28, 2018)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:175618298
GRCh38:
Chr2:174753570
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Apr 22, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr2:175618298
GRCh38:
Chr2:174753570
CHRNA1Myasthenic syndrome, slow-channel congenitalPathogenic
(Sep 1, 1996)
no assertion criteria provided
63.
GRCh37:
Chr2:175618299
GRCh38:
Chr2:174753571
CHRNA1EpilepsyUncertain significance
(Sep 5, 2017)
no assertion criteria provided
64.
GRCh37:
Chr2:175618304
GRCh38:
Chr2:174753576
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr2:175618322
GRCh38:
Chr2:174753594
CHRNA1Non-immune hydrops fetalisLikely pathogenic
(May 13, 2012)
criteria provided, single submitter
66.
GRCh37:
Chr2:175618323
GRCh38:
Chr2:174753595
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Feb 14, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr2:175618323
GRCh38:
Chr2:174753595
CHRNA1Lethal multiple pterygium syndromePathogenic
(Feb 1, 2008)
no assertion criteria provided
68.
GRCh37:
Chr2:175618354
GRCh38:
Chr2:174753626
CHRNA1Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, not specified,
Congenital Myasthenic Syndrome, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 3, 2018)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr2:175618361
GRCh38:
Chr2:174753633
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Oct 6, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr2:175618366
GRCh38:
Chr2:174753638
CHRNA1Multiple pterygium syndrome Escobar type, not specified, Congenital Myasthenic Syndrome, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jul 15, 2016)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr2:175618387
GRCh38:
Chr2:174753659
CHRNA1not providedLikely pathogenic
(Oct 7, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr2:175618388
GRCh38:
Chr2:174753660
CHRNA1Lethal multiple pterygium syndrome, not specifiedBenign/Likely benign
(Jan 4, 2018)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:175618404
GRCh38:
Chr2:174753676
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr2:175618434
GRCh38:
Chr2:174753706
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Nov 6, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr2:175618943
GRCh38:
Chr2:174754215
CHRNA1Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, not specified,
Congenital Myasthenic Syndrome, Dominant/Recessive
Benign/Likely benign
(Jan 4, 2018)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:175618951
GRCh38:
Chr2:174754223
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(May 25, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr2:175618961
GRCh38:
Chr2:174754233
CHRNA1Myasthenic syndrome, slow-channel congenitalPathogenic
(May 1, 1997)
no assertion criteria provided
78.
GRCh37:
Chr2:175618969
GRCh38:
Chr2:174754241
CHRNA1not providedPathogenic
(Apr 1, 2015)
criteria provided, single submitter
79.
GRCh37:
Chr2:175618970
GRCh38:
Chr2:174754242
CHRNA1Lethal multiple pterygium syndrome, Myasthenic syndrome, slow-channel congenitalPathogenic
(Feb 7, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr2:175618974
GRCh38:
Chr2:174754246
CHRNA1Lethal multiple pterygium syndromeLikely benign
(May 26, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr2:175619033
GRCh38:
Chr2:174754305
CHRNA1Congenital myasthenic syndrome 1B, fast-channelPathogenic
(Feb 1, 2003)
no assertion criteria provided
82.
GRCh37:
Chr2:175619063
GRCh38:
Chr2:174754335
CHRNA1Myasthenic syndrome, slow-channel congenitalUncertain significancecriteria provided, single submitter
83.
GRCh37:
Chr2:175619077
GRCh38:
Chr2:174754349
CHRNA1not providedUncertain significance
(Nov 30, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr2:175619104
GRCh38:
Chr2:174754376
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Nov 10, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr2:175619130
GRCh38:
Chr2:174754402
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Nov 13, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr2:175619152
GRCh38:
Chr2:174754424
CHRNA1Lethal multiple pterygium syndromeLikely benign
(Nov 6, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr2:175622318
GRCh38:
Chr2:174757590
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Dec 4, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr2:175622318
GRCh38:
Chr2:174757590
CHRNA1not specifiedUncertain significance
(Jul 10, 2015)
criteria provided, single submitter
89.
GRCh37:
Chr2:175622319
GRCh38:
Chr2:174757591
CHRNA1Juvenile myoclonic epilepsy, Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome,
Congenital Myasthenic Syndrome, Dominant/Recessive
Uncertain significance
(Oct 5, 2017)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:175622358
GRCh38:
Chr2:174757630
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(May 25, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr2:175622371
GRCh38:
Chr2:174757643
CHRNA1Multiple pterygium syndrome Escobar type, Congenital Myasthenic Syndrome, Dominant/RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr2:175622373
GRCh38:
Chr2:174757645
CHRNA1Lethal multiple pterygium syndromeUncertain significance
(Oct 7, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr2:175622404
GRCh38:
Chr2:174757676
CHRNA1not providedLikely pathogenic
(May 20, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr2:175622726
GRCh38:
Chr2:174757998
CHRNA1not specifiedUncertain significance
(Nov 9, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr2:175622761
GRCh38:
Chr2:174758033
CHRNA1not specifiedLikely benigncriteria provided, single submitter
96.
GRCh37:
Chr2:175622788
GRCh38:
Chr2:174758060
CHRNA1not specifiedBenigncriteria provided, single submitter
97.
GRCh37:
Chr2:175624069
GRCh38:
Chr2:174759341
CHRNA1Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, Congenital Myasthenic Syndrome, Dominant/Recessive
Uncertain significance
(Apr 4, 2018)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:175624089
GRCh38:
Chr2:174759361
CHRNA1not specifiedUncertain significance
(Mar 21, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr2:175624108
GRCh38:
Chr2:174759380
CHRNA1Multiple pterygium syndrome Escobar type, not specified, Congenital Myasthenic Syndrome, Dominant/Recessive
Benign
(Mar 14, 2018)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:175624204
GRCh38:
Chr2:174759476
CHRNA1not specifiedLikely benign
(Mar 1, 2017)
criteria provided, single submitter
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