C0268581[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203770	NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	HLCS (R665* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 426486	NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	HLCS (R565* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1909	NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	HLCS (R508W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 2432485	NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)	HLCS (V427E +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 751798	NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GConflicting classifications of pathogenicity
Select item 1983627	NM_001352514.2(HLCS):c.1631del (p.Asp544fs)	HLCS (D544fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 418250	NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)	HLCS (V317L +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 418249	NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)	HLCS (R302S +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2432486	NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)	HLCS (Y236C +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 2440735	NM_001352514.2(HLCS):c.958dup (p.Gln320fs)	HLCS (Q173fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2432487	NM_000411.8(HLCS):c.-393+2558C>T	HLCS	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GUncertain significance