"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PCCA"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550747	NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	PCCA (R77W +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1613643	NM_000282.4(PCCA):c.232-20A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
Select item 991690	NM_000282.4(PCCA):c.484G>A (p.Val162Ile)	PCCA (V136I +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 639091	NM_000282.4(PCCA):c.803G>A (p.Arg268His)	PCCA (R242H +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GUncertain significance
Select item 552178	NM_000282.4(PCCA):c.915-1G>C	PCCA	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 310846	NM_000282.4(PCCA):c.923dup (p.Leu308fs)	PCCA (L308fs +1 more)	Duplication (non-coding transcript variant +2 more)	Propionic acidemia +1 more	GPathogenic
Select item 880841	NM_000282.4(PCCA):c.946A>T (p.Met316Leu)	PCCA (M316L +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 740264	NM_000282.4(PCCA):c.1002C>T (p.Thr334=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia +1 more	GLikely benign
Select item 1419339	NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)	PCCA (Y380H +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 279863	NM_000282.4(PCCA):c.1284+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia +2 more	GPathogenic/Likely pathogenic
Select item 388428	NM_000282.4(PCCA):c.1284+16G>A	PCCA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 638030	NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)	PCCA (Y418fs +5 more)	Duplication (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 1396166	NM_000282.4(PCCA):c.1716dup (p.Val573fs)	PCCA (V210fs +5 more)	Duplication (frameshift variant +1 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 459935	NM_000282.4(PCCA):c.1846-9G>T	PCCA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1518317	NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)	PCCA (T317A +5 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 195560	NM_000282.4(PCCA):c.1899+4_1899+7del	PCCA	Deletion (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic