RS199759055 POLG
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What This Variant Does
"CLNSIG=4
Associated Conditions
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
autosomal dominant 1
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Other Variants in POLG