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Links from MedGen

Items: 31

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:43393294
GRCh38:
Chr1:42927623
SLC2A1M420IEpilepsy, idiopathic generalized, susceptibility to, 12Likely pathogenic
(Apr 18, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr1:43392788
GRCh38:
Chr1:42927117
SLC2A1R468QEpilepsy, idiopathic generalized, susceptibility to, 12Uncertain significance
(Aug 8, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr1:43395543
GRCh38:
Chr1:42929872
SLC2A1Epilepsy, idiopathic generalized, susceptibility to, 12Likely pathogenicno assertion criteria provided
4.
GRCh37:
Chr1:43395539
GRCh38:
Chr1:42929868
SLC2A1Dystonia 9, Epilepsy, idiopathic generalized, susceptibility to, 12, Encephalopathy due to GLUT1 deficiency,
Childhood onset GLUT1 deficiency syndrome 2, Hereditary cryohydrocytosis with reduced stomatin, not provided,
GLUT1 deficiency syndrome 1, autosomal recessive		Uncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:43396840
GRCh38:
Chr1:42931169
SLC2A1R51HDystonia 9, Epilepsy, idiopathic generalized, susceptibility to, 12, Hereditary cryohydrocytosis with reduced stomatin,
Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2, Inborn genetic diseases,
GLUT1 deficiency syndrome 1, autosomal recessive		Uncertain significance
(Feb 20, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:43396421
GRCh38:
Chr1:42930750
SLC2A1V131AInborn genetic diseases, Epilepsy, idiopathic generalized, susceptibility to, 12, GLUT1 deficiency syndrome 1, autosomal recessive
Uncertain significance
(Feb 22, 2023)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:43408910
GRCh38:
Chr1:42943239
SLC2A1N34SDystonia 9, Hereditary cryohydrocytosis with reduced stomatin, Encephalopathy due to GLUT1 deficiency,
Childhood onset GLUT1 deficiency syndrome 2, Epilepsy, idiopathic generalized, susceptibility to, 12, not provided,
Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1, autosomal recessive		Pathogenic
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:43408936
GRCh38:
Chr1:42943265
SLC2A1Dystonia 9, Hereditary cryohydrocytosis with reduced stomatin, Epilepsy, idiopathic generalized, susceptibility to, 12,
Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2		Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr1:43396800
GRCh38:
Chr1:42931129
SLC2A1Dystonia 9, Hereditary cryohydrocytosis with reduced stomatin, Epilepsy, idiopathic generalized, susceptibility to, 12,
Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1, autosomal recessive
Conflicting interpretations of pathogenicity
(Mar 30, 2021)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr1:43395436
GRCh38:
Chr1:42929765
SLC2A1R232Hnot provided, Epilepsy, idiopathic generalized, susceptibility to, 12, GLUT1 deficiency syndrome 1, autosomal recessive
Conflicting interpretations of pathogenicity
(Sep 20, 2023)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr1:43396830-43396831
GRCh38:
Chr1:42931159-42931160
SLC2A1S55fsHereditary cryohydrocytosis with reduced stomatin, Dystonia 9, Epilepsy, idiopathic generalized, susceptibility to, 12,
Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2		Pathogeniccriteria provided, single submitter
12.
GRCh37:
Chr1:43408997
GRCh38:
Chr1:42943326
SLC2A1GLUT1 deficiency syndrome 1, autosomal recessive, not provided, not specified,
Epilepsy, idiopathic generalized, susceptibility to, 12		Conflicting interpretations of pathogenicity
(Oct 16, 2022)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr1:43394950
GRCh38:
Chr1:42929279
SLC2A1GLUT1 deficiency syndrome 1, autosomal recessive, not provided, Encephalopathy due to GLUT1 deficiency,
Childhood onset GLUT1 deficiency syndrome 2, Hereditary cryohydrocytosis with reduced stomatin, Epilepsy, idiopathic generalized, susceptibility to, 12,
Dystonia 9		Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:43395434
GRCh38:
Chr1:42929763
SLC2A1G233RGLUT1 deficiency syndrome 1, autosomal recessive, Childhood onset GLUT1 deficiency syndrome 2, Epilepsy, idiopathic generalized, susceptibility to, 12,
Encephalopathy due to GLUT1 deficiency, Dystonia 9, Hereditary cryohydrocytosis with reduced stomatin
Uncertain significance
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr1:43394617
GRCh38:
Chr1:42928946
SLC2A1A354Tnot provided, GLUT1 deficiency syndrome 1, autosomal recessiveUncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:43396804
GRCh38:
Chr1:42931133
SLC2A1T63MDystonia 9, Epilepsy, idiopathic generalized, susceptibility to, 12, Encephalopathy due to GLUT1 deficiency,
Childhood onset GLUT1 deficiency syndrome 2, Hereditary cryohydrocytosis with reduced stomatin, GLUT1 deficiency syndrome 1, autosomal recessive,
not provided, Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr1:43395287
GRCh38:
Chr1:42929616
SLC2A1Q282*not provided, Epilepsy, idiopathic generalized, susceptibility to, 12, GLUT1 deficiency syndrome 1, autosomal recessive
Pathogenic
(Dec 19, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:43392784
GRCh38:
Chr1:42927113
SLC2A1Q469Hnot provided, Epilepsy, idiopathic generalized, susceptibility to, 12, GLUT1 deficiency syndrome 1, autosomal recessive,
Muscle weakness, Myopathy, Abnormality of the musculature,
Exercise-induced myalgia, Migraine, Increased muscle glycogen content,
Myalgia		Uncertain significance
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:43392796
GRCh38:
Chr1:42927125
SLC2A1Dystonia 9, Hereditary cryohydrocytosis with reduced stomatin, Encephalopathy due to GLUT1 deficiency,
Childhood onset GLUT1 deficiency syndrome 2, Epilepsy, idiopathic generalized, susceptibility to, 12, Inborn genetic diseases,
not specified, GLUT1 deficiency syndrome 1, autosomal recessive, not provided
Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr1:43408994
GRCh38:
Chr1:42943323
SLC2A1Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2, Hereditary cryohydrocytosis with reduced stomatin,
Epilepsy, idiopathic generalized, susceptibility to, 12, Dystonia 9, not provided
Pathogenic
(Dec 31, 2017)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:43395556
GRCh38:
Chr1:42929885
SLC2A1R223WDystonia 9, Hereditary cryohydrocytosis with reduced stomatin, Epilepsy, idiopathic generalized, susceptibility to, 12,
Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2, not provided,
Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1, autosomal recessive		Pathogenic
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr1:43396500
GRCh38:
Chr1:42930829
SLC2A1V105MHereditary cryohydrocytosis with reduced stomatin, Epilepsy, idiopathic generalized, susceptibility to, 12, Encephalopathy due to GLUT1 deficiency,
Childhood onset GLUT1 deficiency syndrome 2, not provided, Dystonia 9,
GLUT1 deficiency syndrome 1, autosomal recessive, Encephalopathy due to GLUT1 deficiency		Conflicting interpretations of pathogenicity
(Apr 13, 2023)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr1:43394671
GRCh38:
Chr1:42929000
SLC2A1L336Vnot provided, Epilepsy, idiopathic generalized, susceptibility to, 12Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:43394661
GRCh38:
Chr1:42928990
SLC2A1I339THereditary cryohydrocytosis with reduced stomatin, Dystonia 9, Hereditary cryohydrocytosis with reduced stomatin,
Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2, Epilepsy, idiopathic generalized, susceptibility to, 12,
Inborn genetic diseases, not specified, Epilepsy, idiopathic generalized, susceptibility to, 12,
not provided, GLUT1 deficiency syndrome 1, autosomal recessive ...see more		Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr1:43394680
GRCh38:
Chr1:42929009
SLC2A1R333WGLUT1 deficiency syndrome, Inborn genetic diseases, Dystonia 9,
Hereditary cryohydrocytosis with reduced stomatin, Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2,
Epilepsy, idiopathic generalized, susceptibility to, 12, not provided, GLUT1 deficiency syndrome 1, autosomal recessive,
Childhood onset GLUT1 deficiency syndrome 2		Pathogenic/Likely pathogenic
(Apr 18, 2023)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:43395463
GRCh38:
Chr1:42929792
SLC2A1Dystonia 9, Encephalopathy due to GLUT1 deficiency, Epilepsy, idiopathic generalized, susceptibility to, 12,
Hereditary cryohydrocytosis with reduced stomatin, Childhood onset GLUT1 deficiency syndrome 2, not specified,
GLUT1 deficiency syndrome 1, autosomal recessive		Benign/Likely benign
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:43396546
GRCh38:
Chr1:42930875
SLC2A1Dystonia 9, Encephalopathy due to GLUT1 deficiency, Epilepsy, idiopathic generalized, susceptibility to, 12,
Hereditary cryohydrocytosis with reduced stomatin, Childhood onset GLUT1 deficiency syndrome 2, not specified,
GLUT1 deficiency syndrome 1, autosomal recessive		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:43393322
GRCh38:
Chr1:42927651
SLC2A1N411Snot provided, GLUT1 deficiency syndrome 1, autosomal recessiveConflicting interpretations of pathogenicity
(Feb 24, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr1:43392819
GRCh38:
Chr1:42927148
SLC2A1R458WEncephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2, Hereditary cryohydrocytosis with reduced stomatin,
Epilepsy, idiopathic generalized, susceptibility to, 12, Dystonia 9, not provided,
GLUT1 deficiency syndrome 1, autosomal recessive		Pathogenic/Likely pathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr1:43395555
GRCh38:
Chr1:42929884
SLC2A1R223PEpilepsy, idiopathic generalized, susceptibility to, 12risk factor
(Jun 4, 2015)		no assertion criteria provided
31.
GRCh37:
Chr1:43395437
GRCh38:
Chr1:42929766
SLC2A1R232Cnot provided, GLUT1 deficiency syndrome 1, autosomal recessivePathogenic/Likely pathogenic
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
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