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Items: 3

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:111899327
GRCh38:
Chr11:112028603
DLATInborn genetic diseasesUncertain significance
(Sep 4, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr11:111931812
GRCh38:
Chr11:112061088
DLAT, PIH1D2Pyruvate dehydrogenase E2 deficiencyPathogenic
(Aug 1, 2005)
no assertion criteria provided
3.
DLATPyruvate dehydrogenase E2 deficiencyPathogenic
(Aug 1, 2005)
no assertion criteria provided
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