C1859499[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323271	NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	MCCC2 (Q43*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 963404	NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)	MCCC2 (E61*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2433668	NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)	MCCC2 (S95F)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 1920	NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	MCCC2 (E99Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324702	NM_022132.5(MCCC2):c.351_353del (p.Gly118del)	MCCC2 (G118del)	Deletion (inframe_deletion)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 1474479	NM_022132.5(MCCC2):c.383+2del	MCCC2	Deletion (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 566363	NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	MCCC2 (R155W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2136201	NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)	MCCC2 (V211G)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1514755	NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)	MCCC2 (R234C)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GUncertain significance
Select item 2433669	NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)	MCCC2 (A245V +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 906077	NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)	MCCC2 (E267G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 167279	NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	MCCC2 (R332* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203805	NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	MCCC2 (V339M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 203806	NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	MCCC2 (L355F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1471664	NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)	MCCC2 (G410R +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 507090	NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)	MCCC2 (N480S +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 194556	NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)	MCCC2 (V481M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1210434	NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)	MCCC2 (S485G +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity