"Counsyl"[submitter] AND "PCCB"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550487	NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)	PCCB	Duplication (inframe_insertion +1 more)	Propionic acidemia	GUncertain significance
Select item 551958	NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)	PCCB	Deletion (inframe_deletion)	Propionic acidemia	GUncertain significance
Select item 556077	NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)	PCCB (L5*)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 343456	NM_000532.5(PCCB):c.45C>T (p.Ser15=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 552199	NM_000532.5(PCCB):c.184-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 289719	NM_000532.5(PCCB):c.184-1G>A	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 550297	NM_000532.5(PCCB):c.196del (p.Ala66fs)	PCCB (A66fs)	Deletion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 554497	NM_000532.5(PCCB):c.292_294del (p.Asp98del)	PCCB (D98del)	Deletion (inframe_deletion)	Propionic acidemia	GUncertain significance
Select item 553178	NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)	PCCB	Deletion (inframe_deletion)	Propionic acidemia	GUncertain significance
Select item 555567	NM_000532.5(PCCB):c.319G>A (p.Val107Met)	PCCB (V107M)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 553380	NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	PCCB (R111*)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
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 217892	NM_000532.5(PCCB):c.372+2T>C	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 552680	NM_000532.5(PCCB):c.373-1297_373-1295del	PCCB (I127del)	Microsatellite (inframe_deletion +1 more)	Propionic acidemia	GLikely benign
Select item 557510	NM_000532.5(PCCB):c.373-1281G>A	PCCB (W132*)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GLikely benign
Select item 557902	NM_000532.5(PCCB):c.373-1271del	PCCB (V136fs)	Deletion (intron variant +1 more)	Propionic acidemia	GLikely benign
Select item 551849	NM_000532.5(PCCB):c.373-1243G>A	PCCB	Single nucleotide variant (splice donor variant +1 more)	Propionic acidemia	GUncertain significance
Select item 557379	NM_000532.5(PCCB):c.429+1G>A	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 557351	NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)	PCCB (A164fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 217894	NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	PCCB (R165W +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 551146	NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)	PCCB (R165Q +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
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 552452	NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	PCCB (L173fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556364	NM_000532.5(PCCB):c.544-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 557071	NM_000532.5(PCCB):c.553dup (p.Thr185fs)	PCCB (T185fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 556277	NM_000532.5(PCCB):c.555G>A (p.Thr185=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 558327	NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)	PCCB (G188R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203888	NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)	PCCB (G188A +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 555816	NM_000532.5(PCCB):c.596C>G (p.Pro199Arg)	PCCB (P199R +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 557043	NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs)	PCCB (A201fs +1 more)	Insertion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 203889	NM_000532.5(PCCB):c.611C>T (p.Ala204Val)	PCCB (A204V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 289718	NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys)	PCCB (Y206C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 550842	NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)	PCCB (S207F +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 203885	NM_000532.5(PCCB):c.649dup (p.Val217fs)	PCCB (V217fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 557030	NM_000532.5(PCCB):c.654+1G>C	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 198428	NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	PCCB (P228L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 551357	NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)	PCCB (G246del +1 more)	Microsatellite (inframe_deletion)	Propionic acidemia	GUncertain significance
Select item 557375	NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)	PCCB (G255S +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 555425	NM_000532.5(PCCB):c.763+1G>A	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 556164	NM_000532.5(PCCB):c.763+2T>A	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 551035	NM_000532.5(PCCB):c.763+3GA[4]	PCCB	Microsatellite (intron variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 552435	NM_000532.5(PCCB):c.838dup (p.Leu280fs)	PCCB (L280fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 557653	NM_000532.5(PCCB):c.884+1G>C	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 556972	NM_000532.5(PCCB):c.885-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
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 203882	NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	PCCB (Y314* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 554742	NM_000532.5(PCCB):c.966+1G>T	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic
Select item 558196	NM_000532.5(PCCB):c.967-2A>C	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 167423	NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	PCCB (E351* +1 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 553179	NM_000532.5(PCCB):c.1090+2T>C	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 558333	NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)	PCCB (R376L +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 558201	NM_000532.5(PCCB):c.1127G>A (p.Arg376His)	PCCB (R376H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 557515	NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr)	PCCB (C381Y +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 343474	NM_000532.5(PCCB):c.1199-8A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 12011	NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	PCCB (R410W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557302	NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)	PCCB (R410Q +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 557335	NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)	PCCB (E421* +1 more)	Duplication (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
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 553749	NM_000532.5(PCCB):c.1300-2A>C	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 554490	NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	PCCB (A434V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
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 225429	NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	PCCB (Y439C +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 558001	NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)	PCCB (I480fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 343476	NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr)	PCCB (A468T +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 552313	NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)	PCCB (E477* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 343478	NM_000532.5(PCCB):c.1452A>G (p.Ala484=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 38878	NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)	PCCB (R499* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 556370	NM_000532.5(PCCB):c.1503del (p.Phe501fs)	PCCB (F501fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GUncertain significance
Select item 343479	NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)	PCCB (Q507R +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 558215	NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del)	PCCB (S510del +1 more)	Microsatellite (inframe_deletion)	Propionic acidemia	GUncertain significance
Select item 217893	NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	PCCB (R514* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557048	NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup)	PCCB	Duplication (inframe_insertion)	Propionic acidemia	GUncertain significance

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Items: 73