C0342793[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689433	NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)	LOC130059554, MLYCD (P25T)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2433755	NM_012213.3(MLYCD):c.315G>C (p.Gln105His)	MLYCD (Q105H)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 1323278	NM_012213.3(MLYCD):c.368dup (p.Gln124fs)	MLYCD (Q124fs)	Duplication (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 4055	NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter)	MLYCD (S187*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1014754	NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)	LOC126862422, MLYCD (R310Q)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 2074866	NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)	MLYCD (S358L)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2433757	NM_012213.3(MLYCD):c.1139G>T (p.Ser380Ile)	MLYCD (S380I)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2083530	NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)	MLYCD (T466A)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 501148	NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)	MLYCD (I474V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity