"Laboratory of Metabolic Disorders, Peking University First Hospital"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638034	NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)	PCCB (F122S)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 638035	NM_000532.5(PCCB):c.410A>G (p.His137Arg)	PCCB (H137R +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 638036	NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)	PCCB (T235P +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 638037	NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)	PCCB (G245S +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 638038	NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)	PCCB (A267D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 638039	NM_000532.5(PCCB):c.839del (p.Leu280fs)	PCCB (L280fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 638040	NM_000532.5(PCCB):c.968TTG[1] (p.Val324del)	PCCB (V324del +1 more)	Microsatellite (inframe_deletion)	Propionic acidemia	GPathogenic
Select item 638041	NM_000532.5(PCCB):c.1220del (p.Gly407fs)	PCCB (G407fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 638042	NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)	PCCB (G412S +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 638043	NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)	PCCB (L447F +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 638044	NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)	PCCB (A458V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic