"3billion"[submitter] AND "PCCB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265422	NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)	PCCB (R113*)	Single nucleotide variant (nonsense)	Propionic acidemia +2 more	GPathogenic
Select item 1042105	NM_000532.5(PCCB):c.449C>T (p.Thr150Met)	PCCB (T150M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1333567	NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)	PCCB (P228A +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 1333455	NM_000532.5(PCCB):c.732dup (p.Gly245fs)	PCCB (G245fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 198741	NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)	PCCB (D293N +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +1 more	GUncertain significance
Select item 1687539	NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)	PCCB (P399R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 554490	NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	PCCB (A434V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic

ClinVar