"Baylor Genetics"[submitter] AND "PCCA"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3240037	NM_000282.4(PCCA):c.312_313del (p.Lys104fs)	PCCA (K104fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 2677488	NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)	PCCA (A106fs +1 more)	Insertion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3240033	NM_000282.4(PCCA):c.330_333del (p.Cys111fs)	PCCA (C111fs +1 more)	Microsatellite (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 38867	NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)	PCCA (A138T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677501	NM_000282.4(PCCA):c.414+1G>C	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 3240032	NM_000282.4(PCCA):c.414+5G>A	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely pathogenic
Select item 632933	NM_000282.4(PCCA):c.415-2A>C	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic
Select item 2677511	NM_000282.4(PCCA):c.415-1G>C	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 203880	NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	PCCA (G142D +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +2 more	GPathogenic
Select item 557830	NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)	PCCA	Deletion (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 830056	NM_000282.4(PCCA):c.446del (p.Asn149fs)	PCCA (N123fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 2677496	NM_000282.4(PCCA):c.447del (p.Asn149fs)	PCCA (N123fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 3240031	NM_000282.4(PCCA):c.449_468+437inv	PCCA	Inversion (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 850325	NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)	PCCA (E125* +1 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 38868	NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)	PCCA (I164T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 2748441	NM_000282.4(PCCA):c.497del (p.Pro166fs)	PCCA (P140fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677510	NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)	PCCA (G171fs +1 more)	Duplication (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 1358281	NM_000282.4(PCCA):c.600+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic
Select item 2798591	NM_000282.4(PCCA):c.638-2A>G	PCCA	Single nucleotide variant (splice acceptor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 553867	NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)	PCCA (A220D +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 1416645	NM_000282.4(PCCA):c.672dup (p.Gly225fs)	PCCA (G225fs +1 more)	Duplication (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 646053	NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	PCCA (R230C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2677514	NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)	PCCA (W207* +1 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GPathogenic
Select item 3240038	NM_000282.4(PCCA):c.716+1dup	PCCA	Duplication (splice donor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2677498	NM_000282.4(PCCA):c.716+2T>C	PCCA	Single nucleotide variant (splice donor variant +1 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 2677492	NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)	PCCA (S219* +1 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 193576	NM_000282.4(PCCA):c.775_779del (p.Leu259fs)	PCCA (L233fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 459939	NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)	PCCA (E261G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 289402	NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	PCCA (R268C +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 1028666	NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)	PCCA (I244T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 3240035	NM_000282.4(PCCA):c.819+1G>T	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 2825522	NM_000282.4(PCCA):c.819+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 2677491	NM_000282.4(PCCA):c.820-1G>T	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 558720	NM_000282.4(PCCA):c.843del (p.Asn281fs)	PCCA (N255fs +1 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 663694	NM_000282.4(PCCA):c.866_867del (p.Glu289fs)	PCCA (E263fs +1 more)	Microsatellite (frameshift variant +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 38869	NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)	PCCA (R288G +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677506	NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)	PCCA (C264* +1 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GLikely pathogenic
Select item 2677500	NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)	PCCA (Q271* +1 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GLikely pathogenic
Select item 449078	NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	PCCA (K298R +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 2084041	NM_000282.4(PCCA):c.914+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
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)	Propionic acidemia	GPathogenic
Select item 38870	NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	PCCA (R313* +1 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia +1 more	GPathogenic
Select item 2677502	NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)	PCCA (Q293* +2 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GPathogenic
Select item 3240036	NM_000282.4(PCCA):c.1055_1056del (p.Thr352fs)	PCCA (T326fs +2 more)	Deletion (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2677494	NM_000282.4(PCCA):c.1065+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GLikely pathogenic
Select item 1726515	NM_000282.4(PCCA):c.1095del (p.Gly366fs)	PCCA (G340fs +2 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 12024	NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	PCCA (M347K +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 662772	NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)	PCCA (R373W +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic
Select item 3240030	NM_000282.4(PCCA):c.1198del (p.Val400fs)	PCCA (V374fs +2 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 1472931	NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)	PCCA (R84Q +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic
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 279863	NM_000282.4(PCCA):c.1284+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 851298	NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)	PCCA (R404* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GPathogenic
Select item 3240028	NM_000282.4(PCCA):c.1306C>T (p.Gln436Ter)	PCCA (Q121* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2677507	NM_000282.4(PCCA):c.1315del (p.Ser439fs)	PCCA (S124fs +5 more)	Deletion (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2677497	NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)	PCCA (S135* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 254165	NM_000282.4(PCCA):c.1353+5_1353+9del	PCCA	Deletion (splice donor variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 2910343	NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)	PCCA (Y381fs +5 more)	Microsatellite (frameshift variant +1 more)	Propionic acidemia	GPathogenic
Select item 1455330	NM_000282.4(PCCA):c.1477del (p.Arg493fs)	PCCA (R130fs +5 more)	Deletion (frameshift variant +1 more)	Propionic acidemia	GPathogenic
Select item 2910344	NM_000282.4(PCCA):c.1495del (p.Ile499fs)	PCCA (I425fs +5 more)	Deletion (frameshift variant +1 more)	Propionic acidemia	GPathogenic
Select item 3240039	NM_000282.4(PCCA):c.1523del (p.Tyr508fs)	PCCA (Y145fs +5 more)	Deletion (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 3240034	NM_000282.4(PCCA):c.1524T>G (p.Tyr508Ter)	PCCA (Y145* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2677513	NM_000282.4(PCCA):c.1541-1G>C	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 1074143	NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)	PCCA (E158* +5 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 554477	NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	PCCA (L532del +5 more)	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3240040	NM_000282.4(PCCA):c.1684_1685del (p.Val563fs)	PCCA (V200fs +5 more)	Microsatellite (frameshift variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 556480	NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 1459857	NM_000282.4(PCCA):c.1746+1G>A	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic
Select item 2677493	NM_000282.4(PCCA):c.1847_1848del	PCCA	Microsatellite (intron variant +1 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 553941	NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)	PCCA (R619* +5 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677504	NM_000282.4(PCCA):c.1860del (p.Ala621fs)	PCCA (A258fs +5 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 2677503	NM_000282.4(PCCA):c.1899+1G>T	PCCA	Single nucleotide variant (splice donor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 195560	NM_000282.4(PCCA):c.1899+4_1899+7del	PCCA	Deletion (splice donor variant +1 more)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 1506828	NM_000282.4(PCCA):c.1900-1G>A	PCCA	Single nucleotide variant (splice acceptor variant +1 more)	Propionic acidemia	GLikely pathogenic
Select item 2677505	NM_000282.4(PCCA):c.1987dup (p.Arg663fs)	PCCA (R300fs +7 more)	Duplication (intron variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 558610	NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)	PCCA (M666K +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 2677490	NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)	PCCA (G305* +7 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GLikely pathogenic
Select item 218266	NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)	PCCA (G668R +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 558384	NM_000282.4(PCCA):c.2027del (p.Lys676fs)	PCCA (K313fs +7 more)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 3240029	NM_000282.4(PCCA):c.2030_2037dup (p.Ala680fs)	PCCA (A317fs +7 more)	Duplication (frameshift variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 218256	NM_000282.4(PCCA):c.2040G>A (p.Ala680=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 2677489	NM_000282.4(PCCA):c.2041_2044del	PCCA	Deletion (genic downstream transcript variant)	Propionic acidemia	GLikely pathogenic
Select item 648058	NM_000282.4(PCCA):c.2041-1G>T	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GLikely pathogenic
Select item 552545	NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)	PCCA (E686* +9 more)	Single nucleotide variant (nonsense +1 more)	Propionic acidemia	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2