"Baylor Genetics"[submitter] AND "HLCS"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 851334	NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)	HLCS (P709L +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GConflicting classifications of pathogenicity
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 590835	NM_001352514.2(HLCS):c.2451-1G>A	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3241736	NM_001352514.2(HLCS):c.2451-2A>G	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676027	NM_001352514.2(HLCS):c.2450+2T>A	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
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 2676009	NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)	HLCS (D634Y +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
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 2676013	NM_001352514.2(HLCS):c.2237-2A>G	HLCS	Single nucleotide variant (non-coding transcript variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2780984	NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)	HLCS (Y595fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676015	NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)	HLCS (G582R +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 1910	NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	HLCS (G581S +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
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 1685877	NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)	HLCS (W568* +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 2676023	NM_000411.8(HLCS):c.1681dup	HLCS	Duplication (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
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 428585	NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)	HLCS (S515N +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GConflicting classifications of pathogenicity
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 2676026	NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)	HLCS (N511K +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
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 2676018	NM_001352514.2(HLCS):c.1961-2A>G	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
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 2676016	NM_001352514.2(HLCS):c.1892+1G>A	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 1069237	NM_001352514.2(HLCS):c.1869del (p.Thr624fs)	HLCS (T477fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 969373	NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)	HLCS (V468L +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 2417039	NM_001352514.2(HLCS):c.1769dup (p.Met590fs)	HLCS (M443fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676004	NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)	HLCS	Duplication (nonsense +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
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 2140758	NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)	HLCS (H406fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1075784	NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)	HLCS (W402* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
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 553797	NM_001352514.2(HLCS):c.1621-2A>G	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676007	NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)	HLCS (Y387fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely 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 2676005	NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)	HLCS (L371fs +1 more)	Insertion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 1458476	NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer)	HLCS	Deletion (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
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 3241737	NM_001352514.2(HLCS):c.1438-1G>C	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 984054	NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)	HLCS (C331* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676014	NM_001352514.2(HLCS):c.1326del (p.Val443fs)	HLCS (V296fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676017	NM_001352514.2(HLCS):c.1289del (p.Ser430fs)	HLCS (S283fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676010	NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)	HLCS (A262fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676006	NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)	HLCS (G261fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely 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 2676024	NM_001352514.2(HLCS):c.1133del (p.Gln378fs)	HLCS (Q231fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 1913	NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)	HLCS (I366fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
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 1914425	NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)	HLCS (C361* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676025	NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)	HLCS (D208fs +1 more)	Microsatellite (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 582885	NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)	HLCS (E202* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676021	NM_001352514.2(HLCS):c.958del (p.Gln320fs)	HLCS (Q173fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676012	NM_001352514.2(HLCS):c.929del (p.Asn310fs)	HLCS (N163fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 1453907	NM_001352514.2(HLCS):c.863del (p.Ser288fs)	HLCS (S141fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676022	NM_001352514.2(HLCS):c.857del (p.Leu286fs)	HLCS (L139fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3241739	NM_001352514.2(HLCS):c.749del (p.Leu250fs)	HLCS (L103fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 1724963	NM_001352514.2(HLCS):c.726dup (p.Val243fs)	HLCS (V243fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 1460039	NM_001352514.2(HLCS):c.727del (p.Val243fs)	HLCS (V243fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic
Select item 1389118	NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)	HLCS (Q75fs +1 more)	Microsatellite (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 203773	NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)	HLCS (Q75* +1 more)	Single nucleotide variant (nonsense +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676011	NM_001352514.2(HLCS):c.513dup (p.Thr172fs)	HLCS (T172fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GPathogenic/Likely pathogenic
Select item 2676019	NM_001352514.2(HLCS):c.494-1G>A	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 3241738	NM_001352514.2(HLCS):c.493+2T>C	HLCS	Single nucleotide variant (splice donor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676020	NM_001352514.2(HLCS):c.476dup (p.Pro160fs)	HLCS (P13fs +1 more)	Duplication (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2676008	NM_001352514.2(HLCS):c.331-1G>C	HLCS	Single nucleotide variant (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely pathogenic

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Items: 69