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Items: 1 to 100 of 634

  • The following terms were not found in ClinVar: %22sharing, scrp%22.
VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:3329337
GRCh38:
Chr1:3412773
PRDM16not specified, Left ventricular noncompaction 8Uncertain significance
(Nov 28, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr1:20964449
GRCh38:
Chr1:20637956
PINK1not provided, PINK1-Related ParkinsonismPathogenic
(Sep 22, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr1:23408767
GRCh38:
Chr1:23082274
KDM1ACleft palate, psychomotor retardation, and distinctive facial featuresPathogenic
(Sep 30, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr1:27106799
GRCh38:
Chr1:26780308
ARID1Anot provided, Coffin-Siris syndromeLikely pathogenic
(Nov 28, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr1:43396501
GRCh38:
Chr1:42930830
SLC2A1GLUT1 deficiency syndrome 2, Dystonia, not specified,
Glucose transporter type 1 deficiency syndrome
Conflicting interpretations of pathogenicity
(Nov 21, 2016)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr1:45797841
GRCh38:
Chr1:45332169
MUTYHnot specifiedUncertain significance
(Apr 21, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr1:53668099
GRCh38:
Chr1:53202427
CPT2Carnitine palmitoyltransferase II deficiency, infantile, Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced, Carnitine palmitoyltransferase II deficiency, lethal neonatal,
Carnitine palmitoyltransferase II deficiency, Encephalopathy, acute, infection-induced, 4, susceptibility to, not provided,
Inborn genetic diseases, Rhabdomyolysis
Pathogenic
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:78401691
GRCh38:
Chr1:77936006
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20, not specified,
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant
Uncertain significance
(Jun 9, 2017)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:94467548
GRCh38:
Chr1:94001992
ABCA4Stargardt disease 1, not specified, not provided,
Cone/cone-rod dystrophy, Macular degeneration, Cone-Rod Dystrophy, Recessive,
Stargardt Disease, Recessive, Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Feb 17, 2017)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr1:94514477
GRCh38:
Chr1:94048921
ABCA4Stargardt disease 1, not specified, not provided,
Macular degeneration, Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive,
Retinitis Pigmentosa, Recessive
Conflicting interpretations of pathogenicity
(Sep 14, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr1:100379113
GRCh38:
Chr1:99913557
AGLGlycogen storage disease type III, Glycogen storage disease IIIa, not provided
Pathogenic
(Jun 26, 2017)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:155205634
GRCh38:
Chr1:155235843
GBA, LOC106627981Lewy body dementia, Gaucher's disease, type 1, Acute neuronopathic Gaucher's disease,
Subacute neuronopathic Gaucher's disease, Gaucher disease, perinatal lethal, Gaucher disease type 3C,
Parkinson disease, late-onset, Dementia, Lewy body, susceptibility to, Gaucher disease,
not provided, RigidityAkinesia,
Susceptibility to Parkinson's Disease, ...see more
Conflicting interpretations of pathogenicity, risk factor
(Dec 3, 2017)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr1:156104586
GRCh38:
Chr1:156134795
LMNAnot providedPathogenic
(Jan 10, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr1:156104650
GRCh38:
Chr1:156134859
LMNAnot specified, not providedConflicting interpretations of pathogenicity
(Jan 20, 2017)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr1:156104692
GRCh38:
Chr1:156134901
LMNAnot providedPathogenic
(Jan 14, 2013)
criteria provided, single submitter
16.
GRCh37:
Chr1:156105704
GRCh38:
Chr1:156135913
LMNAnot providedPathogenic
(Jun 14, 2013)
no assertion criteria provided
17.
GRCh37:
Chr1:156105731
GRCh38:
Chr1:156135940
LMNAPrimary familial hypertrophic cardiomyopathy, Charcot-Marie-Tooth disease, type 2, not specified,
not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Oct 2, 2017)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr1:156837937
GRCh38:
Chr1:156868145
NTRK1Hereditary insensitivity to pain with anhidrosis, not specifiedUncertain significance
(Nov 3, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:161042657
GRCh38:
Chr1:161072867
NECTIN4Ectodermal dysplasia-syndactyly syndrome 1, not specifiedUncertain significance
(Mar 3, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:179530462
GRCh38:
Chr1:179561327
NPHS2Nephrotic syndrome, idiopathic, steroid-resistant, not provided, Steroid-resistant nephrotic syndrome,
Idiopathic nephrotic syndrome
Conflicting interpretations of pathogenicity
(Dec 8, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr1:201328369
GRCh38:
Chr1:201359241
TNNT2not specified, not providedConflicting interpretations of pathogenicity
(Mar 5, 2015)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr1:201328373
GRCh38:
Chr1:201359245
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6, Familial hypertrophic cardiomyopathy 1,
Familial restrictive cardiomyopathy 3, Costello syndrome, Primary familial hypertrophic cardiomyopathy,
not specified, not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jan 29, 2018)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr1:201330455
GRCh38:
Chr1:201361327
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6, Primary familial hypertrophic cardiomyopathy,
not specified, not provided
Conflicting interpretations of pathogenicity
(Apr 28, 2017)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr1:201332518
GRCh38:
Chr1:201363390
TNNT2not specified, not providedConflicting interpretations of pathogenicity
(May 27, 2016)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr1:201334419
GRCh38:
Chr1:201365291
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6, Familial restrictive cardiomyopathy 3,
not specified, not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jan 29, 2018)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr1:209823368
GRCh38:
Chr1:209650023
LAMB3Junctional epidermolysis bullosa gravis of Herlitz, not providedPathogenic
(Sep 16, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:216243560
GRCh38:
Chr1:216070218
USH2Anot specified, not providedConflicting interpretations of pathogenicity
(Apr 6, 2018)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr1:236925893
GRCh38:
Chr1:236762593
ACTN2Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 12, 2017)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr1:237580365
GRCh38:
Chr1:237417065
RYR2not providedLikely pathogenic
(May 28, 2013)
no assertion criteria provided
30.
GRCh37:
Chr1:237608789
GRCh38:
Chr1:237445489
RYR2Long QT syndrome, not provided, Cardiovascular phenotype
Pathogenic
(Apr 4, 2018)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:237617717
GRCh38:
Chr1:237454417
RYR2Catecholaminergic polymorphic ventricular tachycardia type 1, not specifiedUncertain significance
(Nov 16, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr1:237664074
GRCh38:
Chr1:237500774
RYR2Paroxysmal familial ventricular fibrillation 1, Arrhythmogenic right ventricular cardiomyopathy, not specified,
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia
Conflicting interpretations of pathogenicity
(Oct 4, 2017)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:237955441
GRCh38:
Chr1:237792141
RYR2not specified, not providedUncertain significance
(Oct 30, 2015)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:237955604
GRCh38:
Chr1:237792304
RYR2not specifiedUncertain significance
(Jul 24, 2015)
no assertion criteria provided
35.
GRCh37:
Chr1:247587343
GRCh38:
Chr1:247424041
NLRP3Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness, Familial cold urticaria,
not specified, not provided, Familial cold autoinflammatory syndrome,
Cryopyrin associated periodic syndrome
Conflicting interpretations of pathogenicity
(Jan 5, 2018)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr2:26437316
GRCh38:
Chr2:26214447
HADHAMitochondrial trifunctional protein deficiency, not providedLikely pathogenic
(Jun 16, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr2:47637248
GRCh38:
Chr2:47410109
MSH2Lynch syndrome, not specified, not provided,
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
Conflicting interpretations of pathogenicity
(Jan 4, 2018)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr2:47641500
GRCh38:
Chr2:47414361
MSH2Lynch syndrome I, not specified, not provided,
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
Conflicting interpretations of pathogenicity
(Sep 7, 2017)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr2:47702331
GRCh38:
Chr2:47475192
MSH2Ovarian cancer, not specified, not provided,
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
Uncertain significance
(Sep 25, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:47707952-47707960
GRCh38:
Chr2:47480813-47480821
MSH2Lynch syndrome I, Lynch syndrome, not specified,
not provided, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
Conflicting interpretations of pathogenicity
(Feb 5, 2018)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr2:69302734
GRCh38:
Chr2:69075602
ANTXR1Odontotrichomelic syndromeLikely pathogenic
(May 1, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr2:71753425
GRCh38:
Chr2:71526295
DYSFMiyoshi muscular dystrophy 1, Limb-girdle muscular dystrophy, type 2B, not provided,
DYSF- Related Disorder
Pathogenic
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:73799896
GRCh38:
Chr2:73572769
ALMS1Alstrom syndrome, not specifiedUncertain significance
(Dec 21, 2017)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:166221738
GRCh38:
Chr2:165365228
SCN2Anot specifiedUncertain significance
(Nov 16, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr2:178936994
GRCh38:
Chr2:178072267
PDE11APigmented nodular adrenocortical disease, primary, 2, not specifiedConflicting interpretations of pathogenicity
(Jul 12, 2016)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr2:179399071
GRCh38:
Chr2:178534344
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Distal myopathy Markesbery-Griggs type,
Hereditary myopathy with early respiratory failure, not specified, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Dec 29, 2017)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr2:179425420
GRCh38:
Chr2:178560693
TTN, TTN-AS1not specifiedUncertain significance
(Jun 12, 2014)
no assertion criteria provided
48.
GRCh37:
Chr2:179430978
GRCh38:
Chr2:178566251
TTN, TTN-AS1not specifiedUncertain significance
(Dec 2, 2014)
no assertion criteria provided
49.
GRCh37:
Chr2:179456997
GRCh38:
Chr2:178592270
TTN, TTN-AS1not specifiedUncertain significance
(Oct 16, 2013)
no assertion criteria provided
50.
GRCh37:
Chr2:179460312
GRCh38:
Chr2:178595585
TTN, TTN-AS1not specified, not provided, Cardiovascular phenotype
Likely pathogenic
(Sep 22, 2015)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:179462478
GRCh38:
Chr2:178597751
TTN, TTN-AS1Primary dilated cardiomyopathy, not specified, not provided
Conflicting interpretations of pathogenicity
(Jul 22, 2015)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr2:179496893-179496894
GRCh38:
Chr2:178632166-178632167
TTNnot specified, not providedUncertain significance
(Apr 28, 2014)
criteria provided, single submitter
53.
GRCh37:
Chr2:179571683
GRCh38:
Chr2:178706956
TTNPrimary dilated cardiomyopathy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
not specified
Conflicting interpretations of pathogenicity
(Sep 6, 2017)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr2:179620947
GRCh38:
Chr2:178756220
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
Conflicting interpretations of pathogenicity
(Oct 24, 2017)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr2:189849536
GRCh38:
Chr2:188984810
COL3A1Ehlers-Danlos syndrome, type 4, not specified, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Dec 4, 2017)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr2:189855743
GRCh38:
Chr2:188991017
COL3A1Ehlers-Danlos syndrome, type 4, not specified, not provided,
Cardiovascular phenotype
Benign/Likely benign
(Jan 31, 2018)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:189859787
GRCh38:
Chr2:188995061
COL3A1Ehlers-Danlos syndrome, type 4, not providedPathogenic
(Oct 20, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr2:189873678
GRCh38:
Chr2:189008952
COL3A1Ehlers-Danlos syndrome, type 4, not providedLikely pathogenic
(Aug 12, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr2:189917735
GRCh38:
Chr2:189053009
COL5A2not specified, not provided, Cardiovascular phenotype
Uncertain significance
(Dec 12, 2017)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:191155151
GRCh38:
Chr2:190290425
HIBCHBeta-hydroxyisobutyryl-CoA deacylase deficiency, not provided, Inborn genetic diseases
Pathogenic/Likely pathogenic
(Nov 9, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:200173527
GRCh38:
Chr2:199308804
SATB2Chromosome 2q32-q33 deletion syndrome, not providedLikely pathogenic
(Aug 29, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr2:211481257
GRCh38:
Chr2:210616533
CPS1Congenital hyperammonemia, type I, not specified, not provided
Benign
(Jun 28, 2017)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:220284876
GRCh38:
Chr2:219420154
DESMyofibrillar myopathy 1, Congenital diaphragmatic hernia, Myofibrillar myopathy,
not specified, not provided, Muscular dystrophy, limb-girdle, type 2r,
Scapuloperoneal weakness, Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant,
Myofibrillar Myopathy, Dominant
Conflicting interpretations of pathogenicity
(Jan 5, 2018)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr2:223085955
GRCh38:
Chr2:222221236
PAX3Waardenburg syndrome type 1, Craniofacial deafness hand syndrome, Congenital diaphragmatic hernia,
Waardenburg syndrome, not specified
Conflicting interpretations of pathogenicity
(Sep 8, 2017)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr2:241702676
GRCh38:
Chr2:240763259
KIF1ASpastic paraplegia 30, autosomal recessive, Hereditary sensory and autonomic neuropathy type II, Hereditary sensory and autonomic neuropathy type IIC,
Mental retardation, autosomal dominant 9, not specified, Intellectual Disability, Dominant,
Spastic Paraplegia, Recessive
Uncertain significance
(Dec 7, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:241715280
GRCh38:
Chr2:240775863
KIF1AMental retardation, autosomal dominant 9, not provided, Inborn genetic diseases
Pathogenic
(Feb 23, 2017)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr3:8787540
GRCh38:
Chr3:8745854
CAV3Long QT syndrome, not specifiedConflicting interpretations of pathogenicity
(Nov 13, 2017)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr3:11067480
GRCh38:
Chr3:11025794
SLC6A1not provided, Myoclonic-atonic epilepsyLikely pathogenic
(Jun 6, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr3:14183153
GRCh38:
Chr3:14141653
TMEM43not specified, Cardiovascular phenotypeUncertain significance
(Dec 10, 2012)
criteria provided, single submitter
70.
GRCh37:
Chr3:30691910
GRCh38:
Chr3:30650418
TGFBR2Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection, not specified,
Familial thoracic aortic aneurysm
Uncertain significance
(Jul 27, 2017)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr3:37035028
GRCh38:
Chr3:36993537
MLH1not specified, not providedUncertain significance
(Feb 24, 2017)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr3:37038114
GRCh38:
Chr3:36996623
MLH1Lynch syndrome I, not providedPathogenic
(Oct 10, 2014)
reviewed by expert panel
73.
GRCh37:
Chr3:37038193
GRCh38:
Chr3:36996702
MLH1Lynch syndrome II, Lynch syndrome, not provided,
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
74.
GRCh37:
Chr3:37042540
GRCh38:
Chr3:37001049
MLH1Lynch syndrome I, not provided, Hereditary cancer-predisposing syndrome
Likely pathogenic
(Mar 9, 2018)
reviewed by expert panel
75.
GRCh37:
Chr3:37053590
GRCh38:
Chr3:37012099
MLH1Lynch syndrome, not provided, Hereditary nonpolyposis colon cancer
Likely pathogenic
(Sep 5, 2013)
reviewed by expert panel
76.
GRCh37:
Chr3:37058999
GRCh38:
Chr3:37017508
MLH1Lynch syndrome II, Lynch syndrome, not provided,
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
77.
GRCh37:
Chr3:37070339
GRCh38:
Chr3:37028848
MLH1Lynch syndrome, not provided, Hereditary cancer-predisposing syndrome,
Hereditary nonpolyposis colon cancer
Uncertain significance
(Sep 5, 2013)
reviewed by expert panel
78.
GRCh37:
Chr3:37089174
GRCh38:
Chr3:37047683
MLH1Lynch syndrome II, Lynch syndrome, not provided,
Hereditary nonpolyposis colon cancer
Pathogenic
(Sep 5, 2013)
reviewed by expert panel
79.
GRCh37:
Chr3:38591902
GRCh38:
Chr3:38550411
SCN5AAtrial fibrillation, Atrial fibrillation, familial, 10, not specified,
Atrial fibrillation
Uncertain significance
(Jul 5, 2017)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr3:38591990
GRCh38:
Chr3:38550499
SCN5ALong QT syndrome, Brugada syndrome, not specified,
not provided
Uncertain significance
(Sep 14, 2017)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr3:38592012
GRCh38:
Chr3:38550521
SCN5ALong QT syndrome 2, not provided, Atrial fibrillation,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Nov 19, 2015)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr3:38592093
GRCh38:
Chr3:38550602
SCN5ABrugada syndrome 1, Brugada syndrome, not provided
Conflicting interpretations of pathogenicity
(Jun 14, 2017)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr3:38592125
GRCh38:
Chr3:38550634
SCN5Anot specified, Congenital long QT syndrome, Cardiovascular phenotype
Uncertain significance
(Apr 26, 2016)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr3:38592152
GRCh38:
Chr3:38550661
SCN5ALong QT syndrome, Brugada syndrome, not specified,
not provided, Death in infancy, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Sep 11, 2017)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr3:38592174
GRCh38:
Chr3:38550683
SCN5ALong QT syndrome, Brugada syndrome, not specified,
not provided
Uncertain significance
(Dec 7, 2017)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr3:38592239
GRCh38:
Chr3:38550748
SCN5Anot provided, Atrial fibrillationLikely pathogenic
(Jun 27, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr3:38592369
GRCh38:
Chr3:38550878
SCN5ALong QT syndrome, Brugada syndrome, not specified,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jul 27, 2017)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr3:38592386
GRCh38:
Chr3:38550895
SCN5ALong QT syndrome 3, SUDDEN INFANT DEATH SYNDROME, Brugada syndrome,
not specified, Congenital long QT syndrome, Cardiovascular phenotype
Uncertain significance
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr3:38592408
GRCh38:
Chr3:38550917
SCN5ALong QT syndrome 2/3, digenic, Long QT syndrome, Brugada syndrome,
not specified, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(Dec 29, 2017)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr3:38592458
GRCh38:
Chr3:38550967
SCN5Anot provided, Congenital long QT syndromeLikely pathogenic
(Feb 3, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr3:38592485
GRCh38:
Chr3:38550994
SCN5Anot specified, not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jan 10, 2017)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr3:38592561
GRCh38:
Chr3:38551070
SCN5ALong QT syndrome 3, Brugada syndrome, not provided,
Congenital long QT syndrome, Cardiovascular phenotype
Pathogenic
(Mar 22, 2017)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:38592636
GRCh38:
Chr3:38551145
SCN5ABrugada syndrome, not providedPathogenic
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:38592734
GRCh38:
Chr3:38551243
SCN5ABrugada syndrome 1, Paroxysmal familial ventricular fibrillation 1, Brugada syndrome,
not provided, Ventricular fibrillation, Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Aug 24, 2017)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr3:38592825
GRCh38:
Chr3:38551334
SCN5ASudden cardiac death, Brugada syndrome, not specified,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Mar 5, 2018)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr3:38592885
GRCh38:
Chr3:38551394
SCN5Anot provided, Congenital long QT syndrome, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Feb 1, 2018)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr3:38592929
GRCh38:
Chr3:38551438
SCN5ABrugada syndrome, not provided, Congenital long QT syndrome
Conflicting interpretations of pathogenicity
(May 8, 2017)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr3:38592932
GRCh38:
Chr3:38551441
SCN5ALong QT syndrome 3, Brugada syndrome, not provided,
Congenital long QT syndrome, Cardiovascular phenotype
Pathogenic
(Dec 27, 2017)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr3:38592986
GRCh38:
Chr3:38551495
SCN5Anot provided, Congenital long QT syndrome, Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Jan 16, 2017)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr3:38595800
GRCh38:
Chr3:38554309
SCN5AProgressive familial heart block type 1A, Brugada syndrome, not provided,
Atrioventricular block
Pathogenic/Likely pathogenic
(Dec 22, 2017)
criteria provided, multiple submitters, no conflicts
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