"Natera, Inc."[submitter] AND "PCCA"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 991687	NM_000282.4(PCCA):c.-4A>C	PCCA	Single nucleotide variant (5 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 557232	NM_000282.4(PCCA):c.2T>C (p.Met1Thr)	PCCA (M1T)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 795037	NM_000282.4(PCCA):c.9G>C (p.Gly3=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1102071	NM_000282.4(PCCA):c.18C>T (p.Val6=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 794384	NM_000282.4(PCCA):c.33G>T (p.Leu11=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 767075	NM_000282.4(PCCA):c.36C>T (p.Val12=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GBenign
Select item 763437	NM_000282.4(PCCA):c.54G>A (p.Gly18=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1210778	NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)	PCCA (P21S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 991688	NM_000282.4(PCCA):c.120T>C (p.Tyr40=)	PCCA	Single nucleotide variant (synonymous variant +3 more)	Propionic acidemia	GUncertain significance
Select item 203876	NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)	PCCA (R49C)	Single nucleotide variant (missense variant +3 more)	Propionic acidemia +1 more	GLikely benign
Select item 554669	NM_000282.4(PCCA):c.183+4_183+7del	PCCA	Microsatellite (splice donor variant +1 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 196244	NM_000282.4(PCCA):c.184-17_184-16del	PCCA	Microsatellite (intron variant)	Propionic acidemia +1 more	GBenign
Select item 568000	NM_000282.4(PCCA):c.202G>A (p.Val68Ile)	PCCA (V68I +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
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 550113	NM_000282.4(PCCA):c.231+1G>C	PCCA	Single nucleotide variant (splice donor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 255735	NM_000282.4(PCCA):c.231+47_231+50del	PCCA	Microsatellite (intron variant)	Propionic acidemia +1 more	GBenign
Select item 1004771	NM_000282.4(PCCA):c.287T>C (p.Val96Ala)	PCCA (V70A +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 203879	NM_000282.4(PCCA):c.328G>C (p.Val110Leu)	PCCA (V110L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 991689	NM_000282.4(PCCA):c.370A>G (p.Met124Val)	PCCA (M124V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Propionic acidemia	GUncertain significance
Select item 632933	NM_000282.4(PCCA):c.415-2A>C	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic
Select item 1007299	NM_000282.4(PCCA):c.415G>A (p.Val139Ile)	PCCA (V113I +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
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 743835	NM_000282.4(PCCA):c.490A>G (p.Ile164Val)	PCCA (I164V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GLikely benign
Select item 310844	NM_000282.4(PCCA):c.522G>A (p.Met174Ile)	PCCA (M174I +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GUncertain significance
Select item 991691	NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)	PCCA (A158G +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 573470	NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)	PCCA (G197A +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 198708	NM_000282.4(PCCA):c.627A>G (p.Ala209=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia +2 more	GBenign
Select item 510998	NM_000282.4(PCCA):c.645T>G (p.Pro215=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 991692	NM_000282.4(PCCA):c.649A>G (p.Met217Val)	PCCA (M191V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 724105	NM_000282.4(PCCA):c.660C>T (p.Ala220=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 646053	NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	PCCA (R230C +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 850378	NM_000282.4(PCCA):c.717-2A>G	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic/Likely 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 459939	NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)	PCCA (E261G +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
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 568750	NM_000282.4(PCCA):c.819+9A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 706632	NM_000282.4(PCCA):c.825A>G (p.Leu275=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 680174	NM_000282.4(PCCA):c.870C>T (p.Cys290=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 728780	NM_000282.4(PCCA):c.914+8T>A	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GLikely benign
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 (non-coding transcript variant +2 more)	Propionic acidemia +1 more	GPathogenic
Select item 788170	NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)	PCCA (A310G +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 573583	NM_000282.4(PCCA):c.929C>T (p.Ala310Val)	PCCA (A310V +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	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 991693	NM_000282.4(PCCA):c.999G>A (p.Gly333=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
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 991694	NM_000282.4(PCCA):c.1214C>A (p.Pro405His)	PCCA (P331H +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310847	NM_000282.4(PCCA):c.1236A>G (p.Pro412=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 968119	NM_000282.4(PCCA):c.1275T>G (p.His425Gln)	PCCA (H425Q +5 more)	Single nucleotide variant (missense variant +1 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 989595	NM_000282.4(PCCA):c.1285-1417T>C	PCCA	Single nucleotide variant (non-coding transcript variant +1 more)	Propionic acidemia	GUncertain significance
Select item 459934	NM_000282.4(PCCA):c.1342A>G (p.Met448Val)	PCCA (M448V +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia +1 more	GUncertain significance
Select item 989596	NM_000282.4(PCCA):c.1383G>A (p.Glu461=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GUncertain significance
Select item 92761	NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)	PCCA (I475V +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia +1 more	GBenign/Likely benign
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 194593	NM_000282.4(PCCA):c.1429+7A>G	PCCA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 726442	NM_000282.4(PCCA):c.1515C>T (p.Ser505=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 937344	NM_000282.4(PCCA):c.1519G>A (p.Val507Met)	PCCA (V144M +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 737431	NM_000282.4(PCCA):c.1576T>C (p.Leu526=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 554477	NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	PCCA (L532del +5 more)	Deletion (inframe_deletion +1 more)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 1056964	NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)	PCCA (V188I +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GLikely benign
Select item 38865	NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)	PCCA (V551F +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 218258	NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)	PCCA (W559L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 703513	NM_000282.4(PCCA):c.1713C>T (p.Thr571=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 235448	NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)	PCCA (S582L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 989597	NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)	PCCA (G224A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Propionic acidemia	GUncertain significance
Select item 989598	NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)	PCCA (S243T +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
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 706830	NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)	PCCA (L543P +5 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 760153	NM_000282.4(PCCA):c.1884G>A (p.Gln628=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1005677	NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)	PCCA (F266C +5 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GUncertain significance
Select item 989599	NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)	PCCA (G268S +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 459936	NM_000282.4(PCCA):c.1896A>G (p.Thr632=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 1207997	NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)	PCCA (V270G +5 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GUncertain significance
Select item 664611	NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)	PCCA (T325S +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 735207	NM_000282.4(PCCA):c.1929C>T (p.Ala643=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1006627	NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)	PCCA (E282K +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 882474	NM_000282.4(PCCA):c.1953G>A (p.Leu651=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
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 310848	NM_000282.4(PCCA):c.2037C>T (p.Asp679=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 989600	NM_000282.4(PCCA):c.2040+9TG[3]	PCCA	Microsatellite (intron variant)	Propionic acidemia	GLikely benign
Select item 310850	NM_000282.4(PCCA):c.2040+11dup	PCCA	Duplication (intron variant)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 552574	NM_000282.4(PCCA):c.2041-2A>G	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 788448	NM_000282.4(PCCA):c.2055A>G (p.Gln685=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	Propionic acidemia	GLikely benign
Select item 989601	NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)	PCCA (K331N +9 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 835996	NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)	PCCA (A627P +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 989602	NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)	PCCA (G342C +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Propionic acidemia	GUncertain significance
Select item 843945	NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)	PCCA (G646R +9 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 550359	NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)	PCCA (D359fs +9 more)	Insertion (frameshift variant +1 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 310851	NM_000282.4(PCCA):c.2172C>T (p.Leu724=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 91