RS1064794262 CACNA1A
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What This Variant Does
"CLNSIG=5
Associated Conditions
Epileptic encephalopathy
Bulbar palsy
Recurrent respiratory infections
Developmental and epileptic encephalopathy
42
Episodic ataxia type 2
CACNA1A-related disorder
Inborn genetic diseases
Epileptic encephalopathy
Bulbar palsy
Recurrent respiratory infections
Developmental and epileptic encephalopathy
42
Episodic ataxia type 2
CACNA1A-related disorder
Other Variants in CACNA1A