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Links from MedGen

Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHNAK2
(Q2036D +1 more)
Indel
(missense variant)
Migraine
+1 more
GUncertain significance
TANGO2
Deletion
Hereditary episodic ataxia
+2 more
GPathogenic
CACNA1A
(Q2231R +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNB4, LOC129934925
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GLikely benign
SLC1A3
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
GLikely benign
SLC1A3
Deletion
(3 prime UTR variant)
Hereditary episodic ataxia
GBenign
SLC1A3
Duplication
(3 prime UTR variant)
Hereditary episodic ataxia
GUncertain significance
SLC1A3
Deletion
(3 prime UTR variant)
Hereditary episodic ataxia
GLikely benign
SLC1A3
Duplication
(3 prime UTR variant)
Hereditary episodic ataxia
GUncertain significance
SLC1A3
Deletion
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GConflicting classifications of pathogenicity
SLC1A3
Single nucleotide variant
Hereditary episodic ataxia
GUncertain significance
SLC1A3
Single nucleotide variant
Hereditary episodic ataxia
GLikely benign
CACNB4, LOC129934925
Single nucleotide variant
(5 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
CACNB4
Duplication
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Duplication
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GLikely benign
CACNB4
Deletion
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
CACNB4
Duplication
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GLikely benign
CACNB4
Deletion
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Duplication
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GConflicting classifications of pathogenicity
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+2 more
GBenign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Duplication
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GConflicting classifications of pathogenicity
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Deletion
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GConflicting classifications of pathogenicity
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
KCNA1
Deletion
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GBenign
KCNA1
Duplication
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+2 more
GConflicting classifications of pathogenicity
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+2 more
GConflicting classifications of pathogenicity
KCNA1
Microsatellite
(3 prime UTR variant)
Myokymia
+1 more
GUncertain significance
KCNA1
Microsatellite
(3 prime UTR variant)
Myokymia
+1 more
GLikely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GConflicting classifications of pathogenicity
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Myokymia
+1 more
GLikely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Hereditary episodic ataxia
+2 more
GConflicting classifications of pathogenicity
KCNA1
(M455K)
Single nucleotide variant
(missense variant)
Myokymia
+2 more
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1, LOC130007218
Single nucleotide variant
(5 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+2 more
GBenign
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+2 more
GBenign/Likely benign
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GConflicting classifications of pathogenicity
KCNA1
Microsatellite
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GBenign/Likely benign
KCNA1
Duplication
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GLikely benign
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GBenign
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Episodic ataxia type 1
+1 more
GBenign
KCNA1
Microsatellite
(5 prime UTR variant)
Myokymia
+1 more
GLikely benign
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
KCNA1
Single nucleotide variant
(5 prime UTR variant)
Hereditary episodic ataxia
+1 more
GUncertain significance
SCN2A
(S987I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 11
+5 more
GPathogenic/Likely pathogenic
CACNA1A
(T501M +1 more)
Single nucleotide variant
(missense variant)
Hereditary episodic ataxia
+3 more
GPathogenic
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