RS142347031 POLG
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What This Variant Does
"CLNSIG=5
Associated Conditions
Progressive sclerosing poliodystrophy
POLG-related disorder
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
POLG-related disorder
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Other Variants in POLG