Related gene-specific medical variations for Gene (Select 3141) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041218	NM_001352514.2(HLCS):c.27C>T (p.Tyr9=)	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	HLCS-related condition	GLikely benign
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 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 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 2676023	NM_000411.8(HLCS):c.1681dup	HLCS	Duplication (splice acceptor variant)	Holocarboxylase synthetase deficiency	GLikely 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 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 2676018	NM_001352514.2(HLCS):c.1961-2A>G	HLCS	Single nucleotide variant (splice acceptor variant)	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 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 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 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 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 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 2676008	NM_001352514.2(HLCS):c.331-1G>C	HLCS	Single nucleotide variant (splice acceptor variant)	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 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 2676004	NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)	HLCS	Duplication (nonsense +1 more)	Holocarboxylase synthetase deficiency	GLikely pathogenic
Select item 2652652	NM_001352514.2(HLCS):c.165C>A (p.Gly55=)	HLCS, HLCS-AS1	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2571147	NM_001352514.2(HLCS):c.130C>G (p.Gln44Glu)	HLCS, HLCS-AS1 (Q44E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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
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 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 1340857	GRCh37/hg19 21q22.13(chr21:38216327-38311768)x1	HLCS	Copy number loss	not provided	GUncertain significance
Select item 1291347	NM_000411.8(HLCS):c.-393+26A>G	HLCS, LOC130066639	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287591	NM_000411.8(HLCS):c.-393+39T>C	HLCS, LOC130066639	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267672	NM_000411.8(HLCS):c.-392-4553C>T	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260725	NM_000411.8(HLCS):c.-392-4660A>C	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246270	NM_000411.8(HLCS):c.-393+88A>G	HLCS, LOC130066639	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237484	NM_000411.8(HLCS):c.-392-4557G>A	LOC130066637, HLCS +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232132	NM_001352514.2(HLCS):c.-31A>G	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1217966	NM_000411.8(HLCS):c.-392-4558G>C	HLCS, HLCS-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050444	NM_001352514.2(HLCS):c.95C>T (p.Ser32Leu)	HLCS, HLCS-AS1 (S32L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 989620	NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)	HLCS (C109F +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 989616	NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)	HLCS (Y595C +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339982	NM_000411.8(HLCS):c.-433C>T	HLCS, LOC130066639	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 339981	NM_000411.8(HLCS):c.-393+7C>T	HLCS, LOC130066639	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 235250	NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr)	HLCS (H669Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 137553	NM_000411.8(HLCS):c.-393+11G>T	HLCS, LOC130066639	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 137552	NM_000411.8(HLCS):c.-405T>C	HLCS, LOC130066639	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign

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Links from Gene

Items: 41