ClinVar for MedGen (Select 120653) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456841.	NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs) GRCh37: Chr21:38308903-38308911 GRCh38: Chr21:36936603-36936611	HLCS	V280fs, V427fs	Holocarboxylase synthetase deficiency	Likely pathogenic (Feb 27, 2023)	criteria provided, single submitter
Select item 24407352.	NM_001352514.2(HLCS):c.958dup (p.Gln320fs) GRCh37: Chr21:38309227-38309228 GRCh38: Chr21:36936927-36936928	HLCS	Q173fs, Q320fs	Holocarboxylase synthetase deficiency	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 24324873.	NM_000411.8(HLCS):c.-393+2558C>T GRCh37: Chr21:38359900 GRCh38: Chr21:36987600	HLCS		Holocarboxylase synthetase deficiency	Uncertain significance (Jan 18, 2021)	criteria provided, single submitter
Select item 24324864.	NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys) GRCh37: Chr21:38309038 GRCh38: Chr21:36936738	HLCS	Y236C, Y383C	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 24324855.	NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu) GRCh37: Chr21:38269331 GRCh38: Chr21:36897031	HLCS	V427E, V574E	Holocarboxylase synthetase deficiency	Uncertain significance (Jun 22, 2021)	criteria provided, single submitter
Select item 24230406.	NC_000021.8:g.(?_38126547)_(38139606_?)del GRCh37: Chr21:38126547-38139606	HLCS		Holocarboxylase synthetase deficiency	Likely pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 24230397.	NC_000021.8:g.(?_38269150)_(38269441_?)del GRCh37: Chr21:38269150-38269441	HLCS		Holocarboxylase synthetase deficiency	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 24211548.	NM_001352514.2(HLCS):c.732G>A (p.Glu244=) GRCh37: Chr21:38309454 GRCh38: Chr21:36937154	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 24203389.	NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu) GRCh37: Chr21:38309587 GRCh38: Chr21:36937287	HLCS	P200L, P53L	Holocarboxylase synthetase deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 241892810.	NM_001352514.2(HLCS):c.1551C>G (p.Thr517=) GRCh37: Chr21:38302620 GRCh38: Chr21:36930320	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 241703911.	NM_001352514.2(HLCS):c.1769dup (p.Met590fs) GRCh37: Chr21:38269282-38269283 GRCh38: Chr21:36896982-36896983	HLCS	M443fs, M590fs	Holocarboxylase synthetase deficiency	Pathogenic (Jul 9, 2022)	criteria provided, single submitter
Select item 241365212.	NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile) GRCh37: Chr21:38126618 GRCh38: Chr21:36754317	HLCS	V704I, V851I	Holocarboxylase synthetase deficiency	Uncertain significance (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220251413.	NM_001352514.2(HLCS):c.1123G>C (p.Asp375His) GRCh37: Chr21:38309063 GRCh38: Chr21:36936763	HLCS	D375H, D228H	Holocarboxylase synthetase deficiency	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 220214714.	NM_001352514.2(HLCS):c.809C>T (p.Ala270Val) GRCh37: Chr21:38309377 GRCh38: Chr21:36937077	HLCS	A123V, A270V	Holocarboxylase synthetase deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 220182615.	NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn) GRCh37: Chr21:38309183 GRCh38: Chr21:36936883	HLCS	D335N, D188N	Holocarboxylase synthetase deficiency	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 220091516.	NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala) GRCh37: Chr21:38137464 GRCh38: Chr21:36765163	HLCS	G657A, G510A	Holocarboxylase synthetase deficiency	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 218974317.	NM_001352514.2(HLCS):c.606G>A (p.Gln202=) GRCh37: Chr21:38309580 GRCh38: Chr21:36937280	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 218898618.	NM_001352514.2(HLCS):c.2496C>A (p.Ser832=) GRCh37: Chr21:38126673 GRCh38: Chr21:36754372	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 218851419.	NM_001352514.2(HLCS):c.1896G>A (p.Leu632=) GRCh37: Chr21:38139583 GRCh38: Chr21:36767282	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 218806120.	NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys) GRCh37: Chr21:38308910 GRCh38: Chr21:36936610	HLCS	E279K, E426K	Holocarboxylase synthetase deficiency	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 218526221.	NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys) GRCh37: Chr21:38269355 GRCh38: Chr21:36897055	HLCS	S419C, S566C	Holocarboxylase synthetase deficiency	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 218485822.	NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp) GRCh37: Chr21:38139537 GRCh38: Chr21:36767236	HLCS	R501W, R648W	Holocarboxylase synthetase deficiency	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 218424223.	NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe) GRCh37: Chr21:38309354 GRCh38: Chr21:36937054	HLCS	L131F, L278F	Holocarboxylase synthetase deficiency	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 218364724.	NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr) GRCh37: Chr21:38132054 GRCh38: Chr21:36759753	HLCS	M590T, M737T	Holocarboxylase synthetase deficiency	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 218280225.	NM_001352514.2(HLCS):c.1137G>A (p.Lys379=) GRCh37: Chr21:38309049 GRCh38: Chr21:36936749	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 217867826.	NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter) GRCh37: Chr21:38269253 GRCh38: Chr21:36896953	HLCS	L600, L453	Holocarboxylase synthetase deficiency	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 217131327.	NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe) GRCh37: Chr21:38309156 GRCh38: Chr21:36936856	HLCS	L197F, L344F	Holocarboxylase synthetase deficiency	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 217040728.	NM_001352514.2(HLCS):c.2406G>A (p.Gly802=) GRCh37: Chr21:38128887 GRCh38: Chr21:36756586	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 216625829.	NM_001352514.2(HLCS):c.2368G>A (p.Val790Met) GRCh37: Chr21:38128925 GRCh38: Chr21:36756624	HLCS	V790M, V643M	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 216618030.	NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn) GRCh37: Chr21:38311162 GRCh38: Chr21:36938862	HLCS	D155N, D8N	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 216540231.	NM_001352514.2(HLCS):c.939C>G (p.Leu313=) GRCh37: Chr21:38309247 GRCh38: Chr21:36936947	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 216146632.	NM_001352514.2(HLCS):c.2460A>C (p.Gln820His) GRCh37: Chr21:38126709 GRCh38: Chr21:36754408	HLCS	Q673H, Q820H	Holocarboxylase synthetase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 215868933.	NM_001352514.2(HLCS):c.1834T>C (p.Leu612=) GRCh37: Chr21:38269218 GRCh38: Chr21:36896918	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 215808834.	NM_001352514.2(HLCS):c.2547C>T (p.Gly849=) GRCh37: Chr21:38126622 GRCh38: Chr21:36754321	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215652035.	NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser) GRCh37: Chr21:38308891 GRCh38: Chr21:36936591	HLCS	L285S, L432S	Holocarboxylase synthetase deficiency	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 215600536.	NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro) GRCh37: Chr21:38309128 GRCh38: Chr21:36936828	HLCS	L206P, L353P	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 14, 2022)	criteria provided, single submitter
Select item 215552137.	NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter) GRCh37: Chr21:38309228 GRCh38: Chr21:36936928	HLCS	Q320, Q173	Holocarboxylase synthetase deficiency	Pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 215471538.	NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu) GRCh37: Chr21:38309267 GRCh38: Chr21:36936967	HLCS	K160E, K307E	Holocarboxylase synthetase deficiency	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 215434439.	NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu) GRCh37: Chr21:38128963 GRCh38: Chr21:36756662	HLCS	P777L, P630L	Holocarboxylase synthetase deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 215389740.	NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs) GRCh37: Chr21:38302571-38302572 GRCh38: Chr21:36930271-36930272	HLCS	Y534fs, Y387fs	Holocarboxylase synthetase deficiency	Pathogenic (Jun 12, 2022)	criteria provided, single submitter
Select item 215297841.	NM_001352514.2(HLCS):c.2450+4A>G GRCh37: Chr21:38128839 GRCh38: Chr21:36756538	HLCS		Holocarboxylase synthetase deficiency	Uncertain significance (Apr 27, 2021)	criteria provided, single submitter
Select item 215139442.	NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe) GRCh37: Chr21:38309600 GRCh38: Chr21:36937300	HLCS	L196F, L49F	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 214708243.	NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp) GRCh37: Chr21:38126555 GRCh38: Chr21:36754254	HLCS	R725W, R872W	Holocarboxylase synthetase deficiency	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 214690144.	NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys) GRCh37: Chr21:38309240 GRCh38: Chr21:36936940	HLCS	G169C, G316C	Holocarboxylase synthetase deficiency	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 214676245.	NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp) GRCh37: Chr21:38308772 GRCh38: Chr21:36936472	HLCS	G325W, G472W	Holocarboxylase synthetase deficiency	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 214606046.	NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln) GRCh37: Chr21:38126551 GRCh38: Chr21:36754250	HLCS	R726Q, R873Q	Holocarboxylase synthetase deficiency	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 214592947.	NM_001352514.2(HLCS):c.1880G>A (p.Arg627His) GRCh37: Chr21:38269172 GRCh38: Chr21:36896872	HLCS	R480H, R627H	Holocarboxylase synthetase deficiency	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 214345748.	NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys) GRCh37: Chr21:38269173 GRCh38: Chr21:36896873	HLCS	R480C, R627C	Holocarboxylase synthetase deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214340649.	NM_001352514.2(HLCS):c.1608G>T (p.Leu536=) GRCh37: Chr21:38302563 GRCh38: Chr21:36930263	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 214270950.	NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr) GRCh37: Chr21:38139543 GRCh38: Chr21:36767242	HLCS	A499T, A646T	Holocarboxylase synthetase deficiency	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 214075851.	NM_001352514.2(HLCS):c.1658_1659del (p.His553fs) GRCh37: Chr21:38269393-38269394 GRCh38: Chr21:36897093-36897094	HLCS	H406fs, H553fs	Holocarboxylase synthetase deficiency	Pathogenic (Apr 2, 2022)	criteria provided, single submitter
Select item 214075352.	NM_001352514.2(HLCS):c.2080G>A (p.Val694Met) GRCh37: Chr21:38137354 GRCh38: Chr21:36765053	HLCS	V694M, V547M	Holocarboxylase synthetase deficiency	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 213793753.	NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu) GRCh37: Chr21:38302733 GRCh38: Chr21:36930433	HLCS	V333L, V480L	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 213482954.	NM_001352514.2(HLCS):c.1452A>C (p.Leu484=) GRCh37: Chr21:38302719 GRCh38: Chr21:36930419	HLCS		Holocarboxylase synthetase deficiency	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213404155.	NM_001352514.2(HLCS):c.1326C>A (p.Pro442=) GRCh37: Chr21:38308860 GRCh38: Chr21:36936560	HLCS		Holocarboxylase synthetase deficiency	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 213400756.	NM_001352514.2(HLCS):c.1134G>A (p.Gln378=) GRCh37: Chr21:38309052 GRCh38: Chr21:36936752	HLCS		Holocarboxylase synthetase deficiency	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 213171357.	NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val) GRCh37: Chr21:38126588 GRCh38: Chr21:36754287	HLCS	F861V, F714V	Holocarboxylase synthetase deficiency	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 212681958.	NM_001352514.2(HLCS):c.882C>T (p.Ser294=) GRCh37: Chr21:38309304 GRCh38: Chr21:36937004	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212585059.	NM_001352514.2(HLCS):c.494-2A>T GRCh37: Chr21:38309694 GRCh38: Chr21:36937394	HLCS		Holocarboxylase synthetase deficiency	Likely pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 212451060.	NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs) GRCh37: Chr21:38132051-38132052 GRCh38: Chr21:36759750-36759751	HLCS	G738fs, G591fs	Holocarboxylase synthetase deficiency	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 212398261.	NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro) GRCh37: Chr21:38309084 GRCh38: Chr21:36936784	HLCS	T221P, T368P	Holocarboxylase synthetase deficiency	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 212142762.	NM_001352514.2(HLCS):c.497T>C (p.Val166Ala) GRCh37: Chr21:38309689 GRCh38: Chr21:36937389	HLCS	V166A, V19A	Holocarboxylase synthetase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 211984063.	NM_001352514.2(HLCS):c.810G>T (p.Ala270=) GRCh37: Chr21:38309376 GRCh38: Chr21:36937076	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 211911964.	NM_001352514.2(HLCS):c.1960+1G>A GRCh37: Chr21:38139518 GRCh38: Chr21:36767217	HLCS		Holocarboxylase synthetase deficiency	Likely pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 211797465.	NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr) GRCh37: Chr21:38311140 GRCh38: Chr21:36938840	HLCS	K15T, K162T	Holocarboxylase synthetase deficiency	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 211638666.	NM_001352514.2(HLCS):c.1230G>A (p.Leu410=) GRCh37: Chr21:38308956 GRCh38: Chr21:36936656	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 211309567.	NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr) GRCh37: Chr21:38302636 GRCh38: Chr21:36930336	HLCS	R512T, R365T	Holocarboxylase synthetase deficiency	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 211273968.	NM_001352514.2(HLCS):c.1509C>T (p.Ser503=) GRCh37: Chr21:38302662 GRCh38: Chr21:36930362	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 211258469.	NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr) GRCh37: Chr21:38308922 GRCh38: Chr21:36936622	HLCS	A422T, A275T	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 211133070.	NM_001352514.2(HLCS):c.2114_2121+5del GRCh37: Chr21:38137308-38137320 GRCh38: Chr21:36765007-36765019	HLCS		Holocarboxylase synthetase deficiency	Likely pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 210838171.	NM_001352514.2(HLCS):c.2450+9T>C GRCh37: Chr21:38128834 GRCh38: Chr21:36756533	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210791372.	NM_001352514.2(HLCS):c.555C>T (p.Ala185=) GRCh37: Chr21:38309631 GRCh38: Chr21:36937331	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210597673.	NM_001352514.2(HLCS):c.1197T>C (p.Phe399=) GRCh37: Chr21:38308989 GRCh38: Chr21:36936689	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210532174.	NM_001352514.2(HLCS):c.1812C>T (p.Arg604=) GRCh37: Chr21:38269240 GRCh38: Chr21:36896940	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210100575.	NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe) GRCh37: Chr21:38126674 GRCh38: Chr21:36754373	HLCS	S685F, S832F	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 209419776.	NM_001352514.2(HLCS):c.2055C>A (p.Ile685=) GRCh37: Chr21:38137379 GRCh38: Chr21:36765078	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209321277.	NM_001352514.2(HLCS):c.1425T>G (p.Ala475=) GRCh37: Chr21:38308761 GRCh38: Chr21:36936461	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209290278.	NM_001352514.2(HLCS):c.1631dup (p.Asp544fs) GRCh37: Chr21:38269420-38269421 GRCh38: Chr21:36897120-36897121	HLCS	D544fs, D397fs	Holocarboxylase synthetase deficiency	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 208768279.	NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer) GRCh37: Chr21:38132129-38132136 GRCh38: Chr21:36759828-36759835	HLCS		Holocarboxylase synthetase deficiency	Pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 208416880.	NM_001352514.2(HLCS):c.1182T>C (p.Ser394=) GRCh37: Chr21:38309004 GRCh38: Chr21:36936704	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jan 24, 2022)	criteria provided, single submitter
Select item 208153581.	NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe) GRCh37: Chr21:38126564 GRCh38: Chr21:36754263	HLCS	L722F, L869F	Holocarboxylase synthetase deficiency	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 208024682.	NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe) GRCh37: Chr21:38309682 GRCh38: Chr21:36937382	HLCS	L21F, L168F	Holocarboxylase synthetase deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 207836283.	NM_001352514.2(HLCS):c.1017T>C (p.Ile339=) GRCh37: Chr21:38309169 GRCh38: Chr21:36936869	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207763984.	NM_001352514.2(HLCS):c.2236+13A>T GRCh37: Chr21:38132015 GRCh38: Chr21:36759714	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 207612485.	NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu) GRCh37: Chr21:38311144 GRCh38: Chr21:36938844	HLCS	Q14E, Q161E	Holocarboxylase synthetase deficiency	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 207452186.	NM_001352514.2(HLCS):c.1960+7C>T GRCh37: Chr21:38139512 GRCh38: Chr21:36767211	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207439187.	NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser) GRCh37: Chr21:38269311 GRCh38: Chr21:36897011	HLCS	P434S, P581S	Holocarboxylase synthetase deficiency	Uncertain significance (May 20, 2021)	criteria provided, single submitter
Select item 207327488.	NM_001352514.2(HLCS):c.460A>G (p.Met154Val) GRCh37: Chr21:38311165 GRCh38: Chr21:36938865	HLCS	M154V, M7V	Holocarboxylase synthetase deficiency	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 207236189.	NM_001352514.2(HLCS):c.2079C>T (p.Ser693=) GRCh37: Chr21:38137355 GRCh38: Chr21:36765054	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 207028590.	NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val) GRCh37: Chr21:38269421 GRCh38: Chr21:36897121	HLCS	D397V, D544V	Holocarboxylase synthetase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 206105391.	NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser) GRCh37: Chr21:38126597 GRCh38: Chr21:36754296	HLCS	G858S, G711S	Holocarboxylase synthetase deficiency	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 206076092.	NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp) GRCh37: Chr21:38309683 GRCh38: Chr21:36937383	HLCS	L168W, L21W	Holocarboxylase synthetase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 205837893.	NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu) GRCh37: Chr21:38137377 GRCh38: Chr21:36765076	HLCS	P686L, P539L	Holocarboxylase synthetase deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 205815594.	NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala) GRCh37: Chr21:38308862 GRCh38: Chr21:36936562	HLCS	P442A, P295A	Holocarboxylase synthetase deficiency	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 205686695.	NM_001352514.2(HLCS):c.2295A>G (p.Thr765=) GRCh37: Chr21:38128998 GRCh38: Chr21:36756697	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 205564996.	NM_001352514.2(HLCS):c.1467C>T (p.Asn489=) GRCh37: Chr21:38302704 GRCh38: Chr21:36930404	HLCS		Holocarboxylase synthetase deficiency	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 205520297.	NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys) GRCh37: Chr21:38129047 GRCh38: Chr21:36756746	HLCS	F749C, F602C	Holocarboxylase synthetase deficiency	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 205038098.	NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His) GRCh37: Chr21:38308874 GRCh38: Chr21:36936574	HLCS	Y438H, Y291H	Holocarboxylase synthetase deficiency	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 204907799.	NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu) GRCh37: Chr21:38137467 GRCh38: Chr21:36765166	HLCS	G509E, G656E	Holocarboxylase synthetase deficiency	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 2045052100.	NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter) GRCh37: Chr21:38128854 GRCh38: Chr21:36756553	HLCS	Y666, Y813	Holocarboxylase synthetase deficiency	Pathogenic (Oct 28, 2022)	criteria provided, single submitter

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