"Soonchunhyang University Bucheon Hospital, Soonchunhyang University M - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225385	NM_000183.3(HADHB):c.209+1G>A	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 225384	NM_000183.3(HADHB):c.919A>G (p.Asn307Asp)	HADHB (N307D +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance