C1839413[trait identifier] AND "SingHealth Duke-NUS Institute of Preci - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590822	NM_001135024.2(PDHX):c.-48del	PDHX	Deletion (5 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 590820	NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)	PDHA1 (C108fs +2 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 590821	NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)	PDHA1 (E264fs +3 more)	Microsatellite (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic

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ClinVar