RS139590686 POLG
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What This Variant Does
"CLNSIG=5
Associated Conditions
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
autosomal recessive 1
6 conditions
Progressive sclerosing poliodystrophy
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Other Variants in POLG