C5830374[trait identifier] AND "Undiagnosed Diseases Network, NIH"[sub - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203752	NM_000183.3(HADHB):c.1059del (p.Gly354fs)	HADHB (G339fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency 2 +1 more	GPathogenic
Select item 3359235	NM_000183.3(HADHB):c.1390-515_1390-499del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency 2	GPathogenic