C0268581[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1677002	NM_001352514.2(HLCS):c.2600del (p.Leu867fs)	HLCS (L720fs +1 more)	Deletion (frameshift variant +1 more)	not specified +1 more	GUncertain significance
Select item 969652	NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)	HLCS (D715N +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
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 1376621	NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)	HLCS (P803S +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
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 (missense variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 1912	NM_001352514.2(HLCS):c.1960+5G>A	HLCS	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1050466	NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)	HLCS (A472G +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 459943	NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)	HLCS (T370I +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 137549	NM_001352514.2(HLCS):c.726C>T (p.Pro242=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign