C0268579[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 40

	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 1202771	NM_000532.5(PCCB):c.373-1292C>T	PCCB	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia +1 more	GLikely benign
Select item 93229	NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)	PCCB (F129* +1 more)	Indel (nonsense)	not provided +1 more	GPathogenic
Select item 12015	NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	PCCB (E168K +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 658152	NM_000532.5(PCCB):c.543G>C (p.Leu181=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GUncertain significance
Select item 198428	NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	PCCB (P228L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
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 198740	NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)	PCCB (R272Q +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 933396	NM_000532.5(PCCB):c.876C>G (p.His292Gln)	PCCB (H312Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566744	NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)	PCCB (T304I +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +2 more	GUncertain significance
Select item 167423	NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	PCCB (E351* +1 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 1517231	NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)	PCCB (D382G +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 12014	NM_000532.5(PCCB):c.1173dup (p.Val392fs)	PCCB (V412fs +1 more)	Duplication (frameshift variant)	Propionic acidemia +1 more	GPathogenic
Select item 38875	NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	PCCB (G427fs +1 more)	Indel (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 900700	NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)	PCCB (A438G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 12018	NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)	PCCB (Y435C +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 343475	NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)	PCCB (A458T +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1427380	NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)	PCCB (I480V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 38877	NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)	PCCB (A497V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 38878	NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)	PCCB (R499* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia +1 more	GPathogenic
Select item 217895	NM_000532.5(PCCB):c.1498+2T>C	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic
Select item 849881	NM_000532.5(PCCB):c.1535G>A (p.Arg512His)	PCCB (R512H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 217893	NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	PCCB (R514* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 38880	NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)	PCCB (L519P +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
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 (frameshift variant +2 more)	PCCA-related disorder +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)	not provided +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

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Items: 40