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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ABATGamma-aminobutyric acid transaminase deficiencyPathogenic
(Jun 1, 1999)
no assertion criteria provided
2.
GRCh37:
Chr16:8862105
GRCh38:
Chr16:8768248
ABATGamma-aminobutyric acid transaminase deficiencyPathogenic
(Jan 1, 2014)
criteria provided, single submitter
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