HLCS[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897928	NM_001352514.2(HLCS):c.*3253C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339909	NM_001352514.2(HLCS):c.*3247A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339910	NM_001352514.2(HLCS):c.*3226dup	HLCS	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 339911	NM_001352514.2(HLCS):c.*3226del	HLCS	Deletion (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339912	NM_001352514.2(HLCS):c.*3209C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899062	NM_001352514.2(HLCS):c.*3175A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899064	NM_001352514.2(HLCS):c.*3162T>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899063	NM_001352514.2(HLCS):c.*3162T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339913	NM_001352514.2(HLCS):c.3159_3162del	HLCS	Deletion (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339914	NM_001352514.2(HLCS):c.*3161G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899065	NM_001352514.2(HLCS):c.*3156A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339915	NM_001352514.2(HLCS):c.3141_3142dup	HLCS	Duplication (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 899066	NM_001352514.2(HLCS):c.*3050A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894933	NM_001352514.2(HLCS):c.*3043A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339916	NM_001352514.2(HLCS):c.*2952CT[1]	HLCS	Microsatellite (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339917	NM_001352514.2(HLCS):c.*2945C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894934	NM_001352514.2(HLCS):c.*2921A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894935	NM_001352514.2(HLCS):c.*2847G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339918	NM_001352514.2(HLCS):c.*2814C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894936	NM_001352514.2(HLCS):c.*2771C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894937	NM_001352514.2(HLCS):c.*2700C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894938	NM_001352514.2(HLCS):c.*2647T>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339919	NM_001352514.2(HLCS):c.*2624G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 339920	NM_001352514.2(HLCS):c.*2622G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 896375	NM_001352514.2(HLCS):c.*2555T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339921	NM_001352514.2(HLCS):c.*2545C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339922	NM_001352514.2(HLCS):c.*2541C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 896376	NM_001352514.2(HLCS):c.*2444C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339923	NM_001352514.2(HLCS):c.*2434G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 896377	NM_001352514.2(HLCS):c.*2416C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339924	NM_001352514.2(HLCS):c.*2285G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339925	NM_001352514.2(HLCS):c.*2267G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339926	NM_001352514.2(HLCS):c.*2243C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339927	NM_001352514.2(HLCS):c.*2163A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 898005	NM_001352514.2(HLCS):c.*2069T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339928	NM_001352514.2(HLCS):c.*2023G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339929	NM_001352514.2(HLCS):c.*1997G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 898006	NM_001352514.2(HLCS):c.*1953A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339930	NM_001352514.2(HLCS):c.*1856T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339931	NM_001352514.2(HLCS):c.*1852G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339932	NM_001352514.2(HLCS):c.*1827C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 899124	NM_001352514.2(HLCS):c.*1766G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339933	NM_001352514.2(HLCS):c.1761_1762del	HLCS	Deletion (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339934	NM_001352514.2(HLCS):c.*1756C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339935	NM_001352514.2(HLCS):c.*1744G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 339936	NM_001352514.2(HLCS):c.*1725A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339937	NM_001352514.2(HLCS):c.*1614dup	HLCS	Duplication (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339938	NM_001352514.2(HLCS):c.*1589CAAA[2]	HLCS	Microsatellite (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339939	NM_001352514.2(HLCS):c.*1594A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339940	NM_001352514.2(HLCS):c.*1581T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339941	NM_001352514.2(HLCS):c.*1484A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 339942	NM_001352514.2(HLCS):c.*1324T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 339943	NM_001352514.2(HLCS):c.*1273T>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339944	NM_001352514.2(HLCS):c.*1206C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 339945	NM_001352514.2(HLCS):c.*1097G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894991	NM_001352514.2(HLCS):c.*1094T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339946	NM_001352514.2(HLCS):c.*1089G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 894992	NM_001352514.2(HLCS):c.*1085G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339947	NM_001352514.2(HLCS):c.*1084C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 896437	NM_001352514.2(HLCS):c.*1071G>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339948	NM_001352514.2(HLCS):c.*985C>A	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339949	NM_001352514.2(HLCS):c.*779A>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339950	NM_001352514.2(HLCS):c.*590A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339951	NM_001352514.2(HLCS):c.*547C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 339952	NM_001352514.2(HLCS):c.*521C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GBenign
Select item 339953	NM_001352514.2(HLCS):c.*490C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 898064	NM_001352514.2(HLCS):c.*448G>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 898065	NM_001352514.2(HLCS):c.*430T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339954	NM_001352514.2(HLCS):c.*334A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 898066	NM_001352514.2(HLCS):c.*305T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 1187089	NM_001352514.2(HLCS):c.*272C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 339955	NM_001352514.2(HLCS):c.*270dup	HLCS	Duplication (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 339956	NM_001352514.2(HLCS):c.*259T>C	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GBenign
Select item 898067	NM_001352514.2(HLCS):c.*168G>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 256033	NM_001352514.2(HLCS):c.*40A>G	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GBenign/Likely benign
Select item 377964	NM_001352514.2(HLCS):c.*19C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 899189	NM_001352514.2(HLCS):c.*14C>T	HLCS	Single nucleotide variant (3 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 203756	NM_001352514.2(HLCS):c.7_9del	HLCS	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1139420	NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2146060	NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)	HLCS (R726Q +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 137547	NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)	HLCS (R725Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2787606	NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2147082	NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)	HLCS (R725W +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
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 2322312	NM_001352514.2(HLCS):c.2612A>C (p.Lys871Thr)	HLCS (K724T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2081535	NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)	HLCS (L722F +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 2833630	NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 1641908	NM_001352514.2(HLCS):c.2601C>A (p.Leu867=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
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 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 803630	NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)	HLCS (D715A +1 more)	Single nucleotide variant (missense 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 517889	NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GBenign/Likely benign
Select item 2131713	NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)	HLCS (F861V +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 2891977	NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GLikely benign
Select item 2061053	NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)	HLCS (G858S +1 more)	Single nucleotide variant (missense variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
Select item 512137	NM_001352514.2(HLCS):c.2571C>T (p.Asp857=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 899190	NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)	HLCS	Single nucleotide variant (synonymous variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance
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 556455	NM_001352514.2(HLCS):c.2567del (p.Pro856fs)	HLCS (P856fs +1 more)	Deletion (frameshift variant +1 more)	Holocarboxylase synthetase deficiency	GUncertain significance

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