C0268579[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1487099	NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)	PCCB (L14F)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 343457	NM_000532.5(PCCB):c.82C>G (p.Leu28Val)	PCCB (L28V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2432489	NM_000532.5(PCCB):c.371dup (p.Asp125fs)	PCCB (D125fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 1323418	NM_000532.5(PCCB):c.430-1G>A	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic
Select item 1324854	NM_000532.5(PCCB):c.518_543del (p.Ser172_Leu173insTer)	PCCB	Deletion (nonsense)	Propionic acidemia	GLikely pathogenic
Select item 203881	NM_000532.5(PCCB):c.655-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 704622	NM_000532.5(PCCB):c.774C>G (p.His258Gln)	PCCB (H258Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 968556	NM_000532.5(PCCB):c.818A>T (p.Asp273Val)	PCCB (D273V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 380595	NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)	PCCB (C291Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 203890	NM_000532.5(PCCB):c.890G>A (p.Arg297His)	PCCB (R297H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +1 more	GUncertain significance
Select item 2689666	NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)	PCCB (P300L +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	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 203882	NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	PCCB (Y314* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1323419	NM_000532.5(PCCB):c.1142dup (p.Cys381fs)	PCCB (C381fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GPathogenic
Select item 12016	NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	PCCB (T428I +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic
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 2434595	NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)	PCCB (A438D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 1989879	NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)	PCCB (D450N +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 702785	NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)	PCCB (R514Q +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 2434596	NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)	PCCB (R529C +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 38881	NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)	PCCB (N536D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 631693	NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)	PCCA (R77Q +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 1324851	NM_000282.4(PCCA):c.284del (p.Asp95fs)	PCCA (D69fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1324852	NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)	PCCA (Y121C +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 2689665	NM_000282.4(PCCA):c.574A>G (p.Ile192Val)	PCCA (I166V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 2432477	NM_000282.4(PCCA):c.638-2del	PCCA	Deletion (splice acceptor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2432461	NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs)	PCCA (M203fs +1 more)	Insertion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 551231	NM_000282.4(PCCA):c.722del (p.Gly241fs)	PCCA (G215fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
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 38870	NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	PCCA (R313* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1441505	NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)	PCCA (Y346C +2 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 2434592	NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)	PCCA (A369G +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 218254	NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)	PCCA (E371fs +2 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 1947603	NM_000282.4(PCCA):c.1268dup (p.Leu424fs)	PCCA (L350fs +5 more)	Duplication (frameshift variant +1 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 554310	NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)	PCCA (P423L +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 218264	NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)	PCCA (R476* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2434594	NM_000282.4(PCCA):c.1428A>G (p.Arg476=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GUncertain significance
Select item 553941	NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)	PCCA (R619* +5 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 1324853	NM_000282.4(PCCA):c.1900-2A>G	PCCA	Single nucleotide variant (splice acceptor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 218253	NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)	PCCA (C688R +9 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 2434591	NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)	PCCA (S346F +9 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 2689664	NM_000282.4(PCCA):c.2171T>A (p.Leu724His)	PCCA (L361H +9 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance

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Items: 42