C0268579[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1031611	NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)	PCCB (A12E)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 987105	NM_000532.5(PCCB):c.155_183+17del	PCCB	Deletion (splice donor variant)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 2677528	NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)	PCCB	Indel (inframe_indel)	Propionic acidemia	GPathogenic
Select item 93227	NM_000532.5(PCCB):c.183+3G>C	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 2677523	NM_000532.5(PCCB):c.183+5G>T	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely pathogenic
Select item 217896	NM_000532.5(PCCB):c.183+5G>A	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 2677521	NM_000532.5(PCCB):c.184-2A>C	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 1457385	NM_000532.5(PCCB):c.187_203del	PCCB	Deletion	Propionic acidemia	GPathogenic/Likely pathogenic
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 553380	NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	PCCB (R111*)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 3240045	NM_000532.5(PCCB):c.335_338dup (p.Ile114fs)	PCCB (I114fs)	Duplication (frameshift variant)	Propionic acidemia	GLikely 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 1076408	NM_000532.5(PCCB):c.371del (p.Gln124fs)	PCCB (Q124fs)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
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 2677519	NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)	PCCB (Q139* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic
Select item 1457174	NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)	PCCB (M145fs +1 more)	Insertion (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1958670	NM_000532.5(PCCB):c.446dup (p.Thr150fs)	PCCB (T170fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 38884	NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)	PCCB (A153P +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic
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 529437	NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)	PCCB (G162W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2677518	NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)	PCCB (R165P +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 2677524	NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)	PCCB (Q167* +1 more)	Single nucleotide variant (nonsense)	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 2677517	NM_000532.5(PCCB):c.543+2T>G	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely 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 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 2677522	NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)	PCCB (L210fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 459942	NM_000532.5(PCCB):c.638del (p.Phe213fs)	PCCB (F213fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 12019	NM_000532.5(PCCB):c.654+462A>G	PCCB	Single nucleotide variant (intron variant)	Propionic acidemia	GPathogenic
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 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 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 556164	NM_000532.5(PCCB):c.763+2T>A	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 1416039	NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)	PCCB (R292W +1 more)	Single nucleotide variant (missense 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 343470	NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)	PCCB (P279L +1 more)	Single nucleotide variant (missense variant)	PCCB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2094596	NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)	PCCB (Q303* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677516	NM_000532.5(PCCB):c.854del (p.Pro285fs)	PCCB (P285fs +1 more)	Deletion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 2677527	NM_000532.5(PCCB):c.884+1G>A	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 3240044	NM_000532.5(PCCB):c.925G>T (p.Glu309Ter)	PCCB (E309* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GLikely pathogenic
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 3240041	NM_000532.5(PCCB):c.967-2_971del	PCCB	Deletion (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
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 1458710	NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)	PCCB (E351* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic
Select item 939354	NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)	PCCB (S363P +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic
Select item 802010	NM_000532.5(PCCB):c.1091-8_1091-3del	PCCB	Deletion (intron variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 3240042	NM_000532.5(PCCB):c.1091-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
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 12014	NM_000532.5(PCCB):c.1173dup (p.Val392fs)	PCCB (V412fs +1 more)	Duplication (frameshift variant)	Propionic acidemia +1 more	GPathogenic
Select item 2203445	NM_000532.5(PCCB):c.1199-2A>G	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic
Select item 2677515	NM_000532.5(PCCB):c.1199-1G>A	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 217891	NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)	PCCB (E404K +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic
Select item 2677525	NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)	PCCB (Y405* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GLikely pathogenic
Select item 2203446	NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)	PCCB (I409del +1 more)	Microsatellite (inframe_deletion)	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 12016	NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)	PCCB (T428I +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic
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 836321	NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)	PCCB (G437S +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2203448	NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)	PCCB (A438V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely 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 2629574	NM_000532.5(PCCB):c.1379T>C (p.Ile460Thr)	PCCB (I460T +1 more)	Single nucleotide variant (missense variant)	PCCB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 194181	NM_000532.5(PCCB):c.1398+1G>T	PCCB	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072010	NM_000532.5(PCCB):c.1399-2_1399-1del	PCCB	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2677526	NM_000532.5(PCCB):c.1399-1G>C	PCCB	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
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 1031610	NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)	PCCB (Y506H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1973629	NM_000532.5(PCCB):c.1478del (p.Pro493fs)	PCCB (P513fs +1 more)	Deletion (frameshift variant)	PCCB-related disorder +1 more	GPathogenic/Likely pathogenic
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 217895	NM_000532.5(PCCB):c.1498+2T>C	PCCB	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic
Select item 971266	NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)	PCCB (I505T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3240043	NM_000532.5(PCCB):c.1516dup (p.Ile506fs)	PCCB (I506fs +1 more)	Duplication (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 38879	NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)	PCCB (R512C +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +2 more	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)	not provided +1 more	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 1438951	NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)	PCCB (Q528* +1 more)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 38881	NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)	PCCB (N536D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +1 more	GPathogenic
Select item 813433	NM_000282.4(PCCA):c.39del (p.Ala14fs)	PCCA (A14fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 556623	NM_000282.4(PCCA):c.69_78del (p.Gln23fs)	PCCA (Q23fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677509	NM_000282.4(PCCA):c.105+1G>C	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 2677495	NM_000282.4(PCCA):c.106-2A>G	PCCA	Single nucleotide variant (splice acceptor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 962880	NM_000282.4(PCCA):c.106-1G>A	PCCA	Single nucleotide variant (splice acceptor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2677487	NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)	PCCA (Y40fs)	Deletion (frameshift variant +3 more)	Propionic acidemia	GLikely pathogenic
Select item 1066791	NM_000282.4(PCCA):c.183+1G>A	PCCA	Single nucleotide variant (splice donor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 218257	NM_000282.4(PCCA):c.184-1G>A	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677508	NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)	PCCA	Deletion (non-coding transcript variant +2 more)	Propionic acidemia	GLikely 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 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 550113	NM_000282.4(PCCA):c.231+1G>C	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
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 2046028	NM_000282.4(PCCA):c.300+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic

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