"Illumina Laboratory Services, Illumina"[submitter] AND "PCCA"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 310839	NM_000282.3(PCCA):c.-60C>T	PCCA	Single nucleotide variant	Propionic acidemia	GUncertain significance
Select item 310840	NM_000282.4(PCCA):c.-20G>A	PCCA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 310841	NM_000282.4(PCCA):c.-5C>T	PCCA	Single nucleotide variant (5 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 255736	NM_000282.4(PCCA):c.24A>G (p.Thr8=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia +2 more	GBenign/Likely benign
Select item 388157	NM_000282.4(PCCA):c.42C>T (p.Ala14=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 310842	NM_000282.4(PCCA):c.231+15C>T	PCCA	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 882425	NM_000282.4(PCCA):c.346C>G (p.Pro116Ala)	PCCA (P90A +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 310843	NM_000282.4(PCCA):c.432A>G (p.Gly144=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
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 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 631694	NM_000282.4(PCCA):c.615dup (p.Val206fs)	PCCA (V206fs +1 more)	Duplication (frameshift variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
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 884132	NM_000282.4(PCCA):c.638-5G>A	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 884133	NM_000282.4(PCCA):c.717-4A>G	PCCA	Single nucleotide variant (intron variant)	Propionic acidemia	GUncertain significance
Select item 884134	NM_000282.4(PCCA):c.762C>T (p.Gly254=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 310845	NM_000282.4(PCCA):c.778A>C (p.Ile260Leu)	PCCA (I260L +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
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 385588	NM_000282.4(PCCA):c.828T>C (p.Gly276=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 880840	NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)	PCCA (A289T +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 736130	NM_000282.4(PCCA):c.945G>A (p.Ala315=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 880841	NM_000282.4(PCCA):c.946A>T (p.Met316Leu)	PCCA (M316L +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 880842	NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)	PCCA (E34D +2 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 511808	NM_000282.4(PCCA):c.1065+5C>T	PCCA	Single nucleotide variant (intron variant)	PCCA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 880843	NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)	PCCA (N366S +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 654854	NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)	PCCA (C398S +2 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GConflicting classifications of pathogenicity
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 386515	NM_000282.4(PCCA):c.1257G>A (p.Gln419=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
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 882229	NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)	PCCA (D105E +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 882230	NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)	PCCA (Y110C +5 more)	Single nucleotide variant (missense 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 194593	NM_000282.4(PCCA):c.1429+7A>G	PCCA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 882231	NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)	PCCA (I408T +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 429410	NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)	PCCA (S520C +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia +3 more	GConflicting classifications of pathogenicity
Select item 38865	NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)	PCCA (V551F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 882472	NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)	PCCA (K253E +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
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 882473	NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)	PCCA (V292F +5 more)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GUncertain significance
Select item 706830	NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)	PCCA (L543P +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 884188	NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)	PCCA (R300C +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 459937	NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)	PCCA (V673L +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
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 310849	NM_000282.4(PCCA):c.2039C>T (p.Ala680Val)	PCCA (A680V +7 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 310850	NM_000282.4(PCCA):c.2040+11dup	PCCA	Duplication (intron variant)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 310851	NM_000282.4(PCCA):c.2172C>T (p.Leu724=)	PCCA	Single nucleotide variant (synonymous variant +1 more)	PCCA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 884189	NM_001195087.2(GGACT):c.*1930T>G	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310852	NM_001195087.2(GGACT):c.1904_1907del	GGACT, PCCA	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 884190	NM_001195087.2(GGACT):c.*1873T>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310853	NM_001195087.2(GGACT):c.*1849G>A	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GLikely benign
Select item 310854	NM_001195087.2(GGACT):c.*1848C>T	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310855	NM_001195087.2(GGACT):c.*1811dup	GGACT, PCCA	Duplication (3 prime UTR variant +1 more)	Propionic acidemia +1 more	GBenign/Likely benign
Select item 310856	NM_001195087.2(GGACT):c.*1805A>C	GGACT, PCCA	Single nucleotide variant (non-coding transcript variant +1 more)	Propionic acidemia	GLikely benign
Select item 310858	NM_001195087.2(GGACT):c.*1774G>A	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310857	NM_001195087.2(GGACT):c.*1774G>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 880903	NM_001195087.2(GGACT):c.*1741A>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic

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Items: 63