C0268581[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551634	NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)	HLCS (K724fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 558586	NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs)	HLCS (M716fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 556455	NM_001352514.2(HLCS):c.2567del (p.Pro856fs)	HLCS (P856fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 553590	NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)	HLCS (Q696* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 553248	NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)	HLCS (G693A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 553686	NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)	HLCS	Duplication (inframe_insertion +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 551078	NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)	HLCS (N761fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 555891	NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)	HLCS (T610del +1 more)	Deletion (inframe_deletion +1 more)	not specified +1 more	GUncertain significance
Select item 553733	NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	HLCS (S754fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 1908	NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	HLCS (D571N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 550091	NM_001352514.2(HLCS):c.2121+1G>A	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 1911	NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	HLCS (V550M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 370850	NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	HLCS (V659fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 529440	NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)	HLCS (G505R +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GConflicting classifications of pathogenicity
Select item 553944	NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)	HLCS (L470S +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GConflicting classifications of pathogenicity
Select item 554029	NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	HLCS (Y456C +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GConflicting classifications of pathogenicity
Select item 557697	NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)	HLCS	Microsatellite (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 553797	NM_001352514.2(HLCS):c.1621-2A>G	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 554535	NM_001352514.2(HLCS):c.1620+1G>A	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 495865	NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	HLCS (Q379* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 550218	NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	HLCS (V363D +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 552198	NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)	HLCS (E474fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 203777	NM_001352514.2(HLCS):c.1223del (p.Gly408fs)	HLCS (G261fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GPathogenic
Select item 1907	NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	HLCS (L237P +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 1914	NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	HLCS (L216R +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 558038	NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)	HLCS (Y167S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 370852	NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)	HLCS (L139* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 556496	NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)	HLCS (R91fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 558596	NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)	HLCS (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 558375	NM_001352514.2(HLCS):c.442A>G (p.Met148Val)	HLCS (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance

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Items: 34