U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1, A2ML1-AS1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
KCNA1
(T226A)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCNA1
(T226M)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
Gnot provided
KCNA1
(T226R)
Single nucleotide variant
(missense variant)
Episodic ataxia/myokymia syndrome
+1 more
GPathogenic
KCNA1
(V408A)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GPathogenic
Format
Sort by
Choose Destination