C0268579[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 899560	NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)	PCCB (S295T +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 3065599	NM_000532.5(PCCB):c.1163T>A (p.Leu388His)	PCCB (L388H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 3065886	NM_000532.5(PCCB):c.1174G>T (p.Val392Phe)	PCCB (V392F +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 3064461	NM_000532.5(PCCB):c.1523del (p.Pro508fs)	PCCB (P508fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 3065256	NM_000282.4(PCCA):c.111_130del (p.Tyr39fs)	PCCA (Y39fs)	Deletion (frameshift variant +3 more)	Propionic acidemia	GLikely pathogenic
Select item 203880	NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	PCCA (G142D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 3065456	NM_000282.4(PCCA):c.496C>A (p.Pro166Thr)	PCCA (P140T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 310844	NM_000282.4(PCCA):c.522G>A (p.Met174Ile)	PCCA (M174I +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GUncertain significance
Select item 289402	NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	PCCA (R268C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3064985	NM_000282.4(PCCA):c.812A>T (p.Glu271Val)	PCCA (E245V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely benign
Select item 2434593	NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)	PCCA (K272T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 851298	NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)	PCCA (R404* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GPathogenic