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Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:74154102
GRCh38:
Chr2:73926975
DGUOK, LOC129934096P22LMitochondrial DNA depletion syndrome 3 (hepatocerebral type), Memory impairment, Hypoplasia of the corpus callosum,
Cognitive impairment, Increased CSF lactate, Cerebral atrophy,
Increased serum pyruvate, Migraine with aura, not provided
Uncertain significance
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr2:74173868
GRCh38:
Chr2:73946741
DGUOKG93EMitochondrial DNA depletion syndrome 3 (hepatocerebral type), Migraine with aura, Increased CSF lactate,
Increased serum pyruvate, Memory impairment, Cerebral atrophy,
Hypoplasia of the corpus callosum, Cognitive impairment
Uncertain significance
(Jan 1, 2017)
criteria provided, single submitter