"Laboratory of Inherited Metabolic Diseases, Research centre for medic - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554669	NM_000282.4(PCCA):c.183+4_183+7del	PCCA	Microsatellite (splice donor variant +1 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 997844	NM_000282.4(PCCA):c.468+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic
Select item 850378	NM_000282.4(PCCA):c.717-2A>G	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 568750	NM_000282.4(PCCA):c.819+9A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 997845	NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)	PCCA (V370G +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic
Select item 997846	NM_000282.4(PCCA):c.1284+2dup	PCCA	Duplication (splice donor variant)	Propionic acidemia	GPathogenic
Select item 254165	NM_000282.4(PCCA):c.1353+5_1353+9del	PCCA	Deletion (splice donor variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 553799	NM_000282.4(PCCA):c.1643+1_1643+2dup	PCCA	Duplication (splice donor variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 997847	NM_000282.4(PCCA):c.1899+2_1899+3insCT	PCCA	Insertion (splice donor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 218256	NM_000282.4(PCCA):c.2040G>A (p.Ala680=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 459938	NM_000282.4(PCCA):c.2119-9A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GPathogenic/Likely pathogenic