ClinVar for MedGen (Select 18801) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25017931.	NM_001040716.2(PC):c.736G>A (p.Glu246Lys) GRCh37: Chr11:66638261 GRCh38: Chr11:66870790	PC	E246K	Pyruvate carboxylase deficiency	Likely pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 24416542.	NM_001040716.2(PC):c.488-6C>A GRCh37: Chr11:66638674 GRCh38: Chr11:66871203	PC		Pyruvate carboxylase deficiency	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 24345903.	NM_001040716.2(PC):c.2605G>A (p.Gly869Ser) GRCh37: Chr11:66617804 GRCh38: Chr11:66850333	PC	G869S	Pyruvate carboxylase deficiency	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 24345884.	NM_001040716.2(PC):c.2638A>G (p.Ser880Gly) GRCh37: Chr11:66617771 GRCh38: Chr11:66850300	PC	S880G	Pyruvate carboxylase deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 24345875.	NM_001040716.2(PC):c.2223+4C>A GRCh37: Chr11:66618507 GRCh38: Chr11:66851036	PC		Pyruvate carboxylase deficiency	Uncertain significance (Feb 15, 2019)	criteria provided, single submitter
Select item 24345866.	NM_001040716.2(PC):c.1093_1095del (p.Glu365del) GRCh37: Chr11:66633748-66633750 GRCh38: Chr11:66866277-66866279	PC	E365del	Pyruvate carboxylase deficiency	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 24345857.	NM_001040716.2(PC):c.2000A>G (p.Lys667Arg) GRCh37: Chr11:66618734 GRCh38: Chr11:66851263	PC	K667R	Pyruvate carboxylase deficiency	Uncertain significance (Sep 21, 2021)	criteria provided, single submitter
Select item 24317078.	NM_001040716.2(PC):c.160C>T (p.Arg54Trp) GRCh37: Chr11:66639319 GRCh38: Chr11:66871848	PC	R54W	Pyruvate carboxylase deficiency	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 24284419.	NM_001040716.2(PC):c.3008del (p.Thr1003fs) GRCh37: Chr11:66617221 GRCh38: Chr11:66849750	PC	T1003fs	Pyruvate carboxylase deficiency	Pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 242816810.	NM_001040716.2(PC):c.1603+17C>T GRCh37: Chr11:66620201 GRCh38: Chr11:66852730	PC		Pyruvate carboxylase deficiency	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 242625011.	NM_001040716.2(PC):c.634-4G>C GRCh37: Chr11:66638367 GRCh38: Chr11:66870896	PC		Pyruvate carboxylase deficiency	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 241873612.	NM_001040716.2(PC):c.156G>A (p.Val52=) GRCh37: Chr11:66639323 GRCh38: Chr11:66871852	PC		Pyruvate carboxylase deficiency	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 241758313.	NM_001040716.2(PC):c.2989C>T (p.Arg997Trp) GRCh37: Chr11:66617240 GRCh38: Chr11:66849769	PC	R997W	Pyruvate carboxylase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 241742414.	NM_001040716.2(PC):c.1982+16G>C GRCh37: Chr11:66619245 GRCh38: Chr11:66851774	PC		Pyruvate carboxylase deficiency	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 241444315.	NM_001040716.2(PC):c.2782C>T (p.Arg928Trp) GRCh37: Chr11:66617524 GRCh38: Chr11:66850053	PC	R928W	Pyruvate carboxylase deficiency	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 241417916.	NM_001040716.2(PC):c.2667G>A (p.Glu889=) GRCh37: Chr11:66617742 GRCh38: Chr11:66850271	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 241346517.	NM_001040716.2(PC):c.1024G>A (p.Val342Ile) GRCh37: Chr11:66633819 GRCh38: Chr11:66866348	PC	V342I	Pyruvate carboxylase deficiency	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 220359318.	NM_001040716.2(PC):c.488-8C>T GRCh37: Chr11:66638676 GRCh38: Chr11:66871205	PC		Pyruvate carboxylase deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 220221219.	NM_001040716.2(PC):c.1604-12T>C GRCh37: Chr11:66620143 GRCh38: Chr11:66852672	PC		Pyruvate carboxylase deficiency	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 220215920.	NM_001040716.2(PC):c.1313C>T (p.Thr438Met) GRCh37: Chr11:66631300 GRCh38: Chr11:66863829	PC	T438M	Pyruvate carboxylase deficiency	Uncertain significance (Sep 7, 2021)	criteria provided, single submitter
Select item 220203521.	NM_001040716.2(PC):c.2825G>A (p.Arg942His) GRCh37: Chr11:66617481 GRCh38: Chr11:66850010	PC	R942H	Pyruvate carboxylase deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220176622.	NM_001040716.2(PC):c.3209G>A (p.Arg1070Gln) GRCh37: Chr11:66616780 GRCh38: Chr11:66849309	PC	R1070Q	Pyruvate carboxylase deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 220108723.	NM_001040716.2(PC):c.439C>T (p.Arg147Cys) GRCh37: Chr11:66638834 GRCh38: Chr11:66871363	PC	R147C	Inborn genetic diseases, Pyruvate carboxylase deficiency	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219999624.	NM_001040716.2(PC):c.2209A>G (p.Ile737Val) GRCh37: Chr11:66618525 GRCh38: Chr11:66851054	PC	I737V	Inborn genetic diseases, Pyruvate carboxylase deficiency	Uncertain significance (Mar 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219965925.	NM_001040716.2(PC):c.903+18C>T GRCh37: Chr11:66637755 GRCh38: Chr11:66870284	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 219757526.	NM_001040716.2(PC):c.1021G>A (p.Asp341Asn) GRCh37: Chr11:66636318 GRCh38: Chr11:66868847	PC	D341N	Pyruvate carboxylase deficiency	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 219753327.	NM_001040716.2(PC):c.3386C>T (p.Ala1129Val) GRCh37: Chr11:66616521 GRCh38: Chr11:66849050	PC	A1129V	Pyruvate carboxylase deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 219676528.	NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn) GRCh37: Chr11:66616790 GRCh38: Chr11:66849319	PC	D1067N	Pyruvate carboxylase deficiency	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 219636429.	NM_001040716.2(PC):c.2285G>A (p.Arg762His) GRCh37: Chr11:66618333 GRCh38: Chr11:66850862	PC	R762H	Pyruvate carboxylase deficiency	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 219565030.	NM_001040716.2(PC):c.1249G>A (p.Val417Ile) GRCh37: Chr11:66631364 GRCh38: Chr11:66863893	PC	V417I	Pyruvate carboxylase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 219564831.	NM_001040716.2(PC):c.585G>A (p.Ala195=) GRCh37: Chr11:66638571 GRCh38: Chr11:66871100	PC		Pyruvate carboxylase deficiency	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 219307532.	NM_001040716.2(PC):c.1358G>A (p.Arg453Gln) GRCh37: Chr11:66631255 GRCh38: Chr11:66863784	PC	R453Q	Pyruvate carboxylase deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 219071233.	NM_001040716.2(PC):c.1672C>T (p.Arg558Trp) GRCh37: Chr11:66620063 GRCh38: Chr11:66852592	PC	R558W	Pyruvate carboxylase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218845034.	NM_001040716.2(PC):c.322-12C>T GRCh37: Chr11:66638963 GRCh38: Chr11:66871492	PC		Pyruvate carboxylase deficiency	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 218823135.	NM_001040716.2(PC):c.2523T>C (p.Ala841=) GRCh37: Chr11:66617886 GRCh38: Chr11:66850415	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 218823036.	NM_001040716.2(PC):c.3195G>A (p.Val1065=) GRCh37: Chr11:66616794 GRCh38: Chr11:66849323	PC		Pyruvate carboxylase deficiency	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 218640637.	NM_001040716.2(PC):c.137-5T>A GRCh37: Chr11:66639347 GRCh38: Chr11:66871876	PC		Inborn genetic diseases, Pyruvate carboxylase deficiency	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 218259738.	NM_001040716.2(PC):c.1742G>A (p.Arg581His) GRCh37: Chr11:66619993 GRCh38: Chr11:66852522	PC	R581H	Pyruvate carboxylase deficiency	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 218101439.	NM_001040716.2(PC):c.330C>T (p.Asn110=) GRCh37: Chr11:66638943 GRCh38: Chr11:66871472	PC		Pyruvate carboxylase deficiency	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 218059040.	NM_001040716.2(PC):c.634-14G>T GRCh37: Chr11:66638377 GRCh38: Chr11:66870906	PC		Pyruvate carboxylase deficiency	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 218025741.	NM_001040716.2(PC):c.2755C>A (p.Gln919Lys) GRCh37: Chr11:66617551 GRCh38: Chr11:66850080	PC	Q919K	Pyruvate carboxylase deficiency	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 217613542.	NM_001040716.2(PC):c.1683G>C (p.Pro561=) GRCh37: Chr11:66620052 GRCh38: Chr11:66852581	PC		Pyruvate carboxylase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 217585043.	NM_001040716.2(PC):c.2607C>T (p.Gly869=) GRCh37: Chr11:66617802 GRCh38: Chr11:66850331	PC		Pyruvate carboxylase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 217412744.	NM_001040716.2(PC):c.2907G>A (p.Lys969=) GRCh37: Chr11:66617322 GRCh38: Chr11:66849851	PC		Pyruvate carboxylase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 217223945.	NM_001040716.2(PC):c.1639C>T (p.Arg547Ter) GRCh37: Chr11:66620096 GRCh38: Chr11:66852625	PC	R547*	Pyruvate carboxylase deficiency	Pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 217195346.	NM_001040716.2(PC):c.2719-5C>T GRCh37: Chr11:66617592 GRCh38: Chr11:66850121	PC		Pyruvate carboxylase deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 217131047.	NM_001040716.2(PC):c.2134G>A (p.Asp712Asn) GRCh37: Chr11:66618600 GRCh38: Chr11:66851129	PC	D712N	Pyruvate carboxylase deficiency	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 216852948.	NM_001040716.2(PC):c.751+10C>T GRCh37: Chr11:66638236 GRCh38: Chr11:66870765	PC		Pyruvate carboxylase deficiency	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 216836349.	NM_001040716.2(PC):c.699G>A (p.Leu233=) GRCh37: Chr11:66638298 GRCh38: Chr11:66870827	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216734550.	NM_001040716.2(PC):c.2990G>A (p.Arg997Gln) GRCh37: Chr11:66617239 GRCh38: Chr11:66849768	PC	R997Q	Pyruvate carboxylase deficiency	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 216573551.	NM_001040716.2(PC):c.1544C>T (p.Pro515Leu) GRCh37: Chr11:66620277 GRCh38: Chr11:66852806	PC	P515L	Inborn genetic diseases, Pyruvate carboxylase deficiency	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216366052.	NM_001040716.2(PC):c.2293G>A (p.Asp765Asn) GRCh37: Chr11:66618325 GRCh38: Chr11:66850854	PC	D765N	Pyruvate carboxylase deficiency	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 216171853.	NM_001040716.2(PC):c.3289-20C>T GRCh37: Chr11:66616638 GRCh38: Chr11:66849167	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 216087154.	NM_001040716.2(PC):c.2718+13C>T GRCh37: Chr11:66617678 GRCh38: Chr11:66850207	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 215959655.	NM_001040716.2(PC):c.215C>T (p.Thr72Met) GRCh37: Chr11:66639264 GRCh38: Chr11:66871793	PC	T72M	Pyruvate carboxylase deficiency	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 215953356.	NM_001040716.2(PC):c.3462G>A (p.Glu1154=) GRCh37: Chr11:66616445 GRCh38: Chr11:66848974	PC		Pyruvate carboxylase deficiency	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 215918957.	NM_001040716.2(PC):c.1103G>A (p.Arg368His) GRCh37: Chr11:66633740 GRCh38: Chr11:66866269	PC	R368H	Pyruvate carboxylase deficiency	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215877058.	NM_001040716.2(PC):c.1682C>T (p.Pro561Leu) GRCh37: Chr11:66620053 GRCh38: Chr11:66852582	PC	P561L	Pyruvate carboxylase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215841659.	NM_001040716.2(PC):c.1741C>T (p.Arg581Cys) GRCh37: Chr11:66619994 GRCh38: Chr11:66852523	PC	R581C	Pyruvate carboxylase deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 215747360.	NM_001040716.2(PC):c.3148-12C>T GRCh37: Chr11:66616853 GRCh38: Chr11:66849382	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 215580661.	NM_001040716.2(PC):c.2865C>T (p.Pro955=) GRCh37: Chr11:66617441 GRCh38: Chr11:66849970	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 215529962.	NM_001040716.2(PC):c.3148-9T>A GRCh37: Chr11:66616850 GRCh38: Chr11:66849379	PC		Pyruvate carboxylase deficiency	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 215430463.	NM_001040716.2(PC):c.2380G>C (p.Val794Leu) GRCh37: Chr11:66618238 GRCh38: Chr11:66850767	PC	V794L	Pyruvate carboxylase deficiency	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 215414464.	NM_001040716.2(PC):c.2182G>A (p.Glu728Lys) GRCh37: Chr11:66618552 GRCh38: Chr11:66851081	PC	E728K	Pyruvate carboxylase deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 215270665.	NM_001040716.2(PC):c.562G>A (p.Gly188Ser) GRCh37: Chr11:66638594 GRCh38: Chr11:66871123	PC	G188S	Pyruvate carboxylase deficiency	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 215132866.	NM_001040716.2(PC):c.952G>A (p.Gly318Ser) GRCh37: Chr11:66636387 GRCh38: Chr11:66868916	PC	G318S	Pyruvate carboxylase deficiency	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 215128467.	NM_001040716.2(PC):c.2453G>C (p.Arg818Thr) GRCh37: Chr11:66618165 GRCh38: Chr11:66850694	PC	R818T	Pyruvate carboxylase deficiency	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 214987668.	NM_001040716.2(PC):c.1023-14C>T GRCh37: Chr11:66633834 GRCh38: Chr11:66866363	PC		Pyruvate carboxylase deficiency	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 214981269.	NM_001040716.2(PC):c.820G>A (p.Val274Met) GRCh37: Chr11:66637856 GRCh38: Chr11:66870385	PC	V274M	Pyruvate carboxylase deficiency	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 214850370.	NM_001040716.2(PC):c.2192T>C (p.Val731Ala) GRCh37: Chr11:66618542 GRCh38: Chr11:66851071	PC	V731A	Pyruvate carboxylase deficiency	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 214841371.	NM_001040716.2(PC):c.3042C>G (p.Pro1014=) GRCh37: Chr11:66617187 GRCh38: Chr11:66849716	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 214839572.	NM_001040716.2(PC):c.1514-12C>T GRCh37: Chr11:66620319 GRCh38: Chr11:66852848	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 214838673.	NM_001040716.2(PC):c.2170A>T (p.Met724Leu) GRCh37: Chr11:66618564 GRCh38: Chr11:66851093	PC	M724L	Pyruvate carboxylase deficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 214772474.	NM_001040716.2(PC):c.2805G>T (p.Ala935=) GRCh37: Chr11:66617501 GRCh38: Chr11:66850030	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 214751075.	NM_001040716.2(PC):c.3497T>C (p.Met1166Thr) GRCh37: Chr11:66616410 GRCh38: Chr11:66848939	PC	M1166T	Pyruvate carboxylase deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 214600776.	NM_001040716.2(PC):c.112A>C (p.Lys38Gln) GRCh37: Chr11:66639519 GRCh38: Chr11:66872048	PC	K38Q	Pyruvate carboxylase deficiency	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 214409377.	NM_001040716.2(PC):c.1023C>T (p.Asp341=) GRCh37: Chr11:66633820 GRCh38: Chr11:66866349	PC		Pyruvate carboxylase deficiency	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 214393878.	NM_001040716.2(PC):c.1022+13G>A GRCh37: Chr11:66636304 GRCh38: Chr11:66868833	PC		Pyruvate carboxylase deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214115579.	NM_001040716.2(PC):c.1747C>T (p.Arg583Cys) GRCh37: Chr11:66619988 GRCh38: Chr11:66852517	PC	R583C	Pyruvate carboxylase deficiency	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 214086280.	NM_001040716.2(PC):c.1177C>T (p.Arg393Cys) GRCh37: Chr11:66633666 GRCh38: Chr11:66866195	PC	R393C	Inborn genetic diseases, Pyruvate carboxylase deficiency	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213961681.	NM_001040716.2(PC):c.410G>A (p.Arg137Gln) GRCh37: Chr11:66638863 GRCh38: Chr11:66871392	PC	R137Q	Pyruvate carboxylase deficiency	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 213931582.	NM_001040716.2(PC):c.662A>T (p.Tyr221Phe) GRCh37: Chr11:66638335 GRCh38: Chr11:66870864	PC	Y221F	Pyruvate carboxylase deficiency	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 213716383.	NM_001040716.2(PC):c.3288+1G>A GRCh37: Chr11:66616700 GRCh38: Chr11:66849229	PC		Pyruvate carboxylase deficiency	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 213056284.	NM_001040716.2(PC):c.1826-8C>T GRCh37: Chr11:66619425 GRCh38: Chr11:66851954	PC		Pyruvate carboxylase deficiency	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 213016285.	NM_001040716.2(PC):c.1219C>T (p.Leu407=) GRCh37: Chr11:66631394 GRCh38: Chr11:66863923	PC		Pyruvate carboxylase deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 212749586.	NM_001040716.2(PC):c.110T>C (p.Ile37Thr) GRCh37: Chr11:66639521 GRCh38: Chr11:66872050	PC	I37T	Pyruvate carboxylase deficiency	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 212683087.	NM_001040716.2(PC):c.696G>T (p.Ala232=) GRCh37: Chr11:66638301 GRCh38: Chr11:66870830	PC		Pyruvate carboxylase deficiency	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212433288.	NM_001040716.2(PC):c.2164T>C (p.Tyr722His) GRCh37: Chr11:66618570 GRCh38: Chr11:66851099	PC	Y722H	Pyruvate carboxylase deficiency	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 212401989.	NM_001040716.2(PC):c.2715C>T (p.Ile905=) GRCh37: Chr11:66617694 GRCh38: Chr11:66850223	PC		Pyruvate carboxylase deficiency	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 212336990.	NM_001040716.2(PC):c.639G>A (p.Leu213=) GRCh37: Chr11:66638358 GRCh38: Chr11:66870887	PC		Pyruvate carboxylase deficiency	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 212292291.	NM_001040716.2(PC):c.2943C>T (p.Ser981=) GRCh37: Chr11:66617286 GRCh38: Chr11:66849815	PC		Pyruvate carboxylase deficiency	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 211468292.	NM_001040716.2(PC):c.894C>G (p.Leu298=) GRCh37: Chr11:66637782 GRCh38: Chr11:66870311	PC		Pyruvate carboxylase deficiency	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 211374593.	NM_001040716.2(PC):c.1032G>A (p.Leu344=) GRCh37: Chr11:66633811 GRCh38: Chr11:66866340	PC		Pyruvate carboxylase deficiency	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 211287094.	NM_001040716.2(PC):c.810G>A (p.Arg270=) GRCh37: Chr11:66637866 GRCh38: Chr11:66870395	PC		Pyruvate carboxylase deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211275895.	NM_001040716.2(PC):c.1413C>T (p.Phe471=) GRCh37: Chr11:66620810 GRCh38: Chr11:66853339	PC		Pyruvate carboxylase deficiency	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211269696.	NM_001040716.2(PC):c.3187C>T (p.Leu1063=) GRCh37: Chr11:66616802 GRCh38: Chr11:66849331	PC		Pyruvate carboxylase deficiency	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 211090397.	NM_001040716.2(PC):c.1604-4C>T GRCh37: Chr11:66620135 GRCh38: Chr11:66852664	PC		Pyruvate carboxylase deficiency	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 210953298.	NM_001040716.2(PC):c.2474-9T>C GRCh37: Chr11:66617944 GRCh38: Chr11:66850473	PC		Pyruvate carboxylase deficiency	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 210947499.	NM_001040716.2(PC):c.1333del (p.Arg445fs) GRCh37: Chr11:66631280 GRCh38: Chr11:66863809	PC	R445fs	Pyruvate carboxylase deficiency	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 2107240100.	NM_001040716.2(PC):c.1383C>T (p.Phe461=) GRCh37: Chr11:66620840 GRCh38: Chr11:66853369	PC		Pyruvate carboxylase deficiency	Likely benign (Mar 6, 2022)	criteria provided, single submitter

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