Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)	SNV Germline	ChrX:38401310	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224600	rs_68026851	8 SubmittersRCV000011734 RCV000083434
NM_000531.6(OTC):c.421C>T (p.Arg141Ter)	SNV Germline	ChrX:38401309	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Single Submitter	CA224598	rs_67960011	3 SubmittersRCV000011735 RCV000083433
NM_000531.6(OTC):c.332T>C (p.Leu111Pro)	SNV Germline	ChrX:38381375	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided	CA255645	rs_1800324	1 SubmittersRCV000011736
NM_000531.6(OTC):c.646C>G (p.Gln216Glu)	SNV Germline	ChrX:38403723	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224724	rs_72558423	2 SubmittersRCV000011737 RCV000083523
NM_000531.6(OTC):c.460G>T (p.Glu154Ter)	SNV Germline	ChrX:38401348	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Single Submitter	CA224619	rs_72556267	3 SubmittersRCV000011738 RCV000083446
NM_000531.6(OTC):c.134T>C (p.Leu45Pro)	SNV Germline	ChrX:38367347	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224461	rs_72554312	2 SubmittersRCV000011739 RCV000083338
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	SNV Germline	ChrX:38352773	Pathogenic/Likely pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA255647	rs_68031618	6 SubmittersRCV000011740 RCV000083565 RCV002408456
NM_000531.6(OTC):c.717+2T>C	SNV Germline	ChrX:38408797	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224754	rs_72558431	2 SubmittersRCV000011743 RCV000083544
NM_000531.6(OTC):c.387-2A>T	SNV Germline	ChrX:38401273	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Single Submitter	CA224575	rs_66556380	3 SubmittersRCV000011745 RCV000083419
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)	SNV Germline	ChrX:38408987	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255648	rs_72558454	9 SubmittersRCV000011746 RCV000083586
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)	SNV Germline	ChrX:38408752	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224741	rs_67120076	7 SubmittersRCV000011747 RCV000083536
NM_000531.6(OTC):c.259G>A (p.Glu87Lys)	SNV Germline	ChrX:38369838	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224520	rs_72554338	2 SubmittersRCV000011748 RCV000083376
NM_000531.6(OTC):c.148G>T (p.Gly50Ter)	SNV Germline	ChrX:38367361	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224472	rs_67486158	2 SubmittersRCV000011749 RCV000083346
NM_000531.6(OTC):c.484G>A (p.Gly162Arg)	SNV Germline	ChrX:38401372	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224636	rs_66626662	2 SubmittersRCV000011750 RCV000083456
NM_000531.6(OTC):c.236G>A (p.Gly79Glu)	SNV Germline	ChrX:38369815	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224511	rs_72554331	2 SubmittersRCV000011753 RCV000083369
NM_000531.6(OTC):c.281G>C (p.Arg94Thr)	SNV Germline	ChrX:38369860	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224537	rs_72554345	2 SubmittersRCV000011754 RCV000083388
NM_000531.6(OTC):c.912G>T (p.Leu304Phe)	SNV Germline	ChrX:38411906	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Single Submitter	CA224834	rs_72558465	3 SubmittersRCV000011755 RCV000083607
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp)	SNV Germline	ChrX:38421050	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224444	rs_66469337	2 SubmittersRCV000011756 RCV000083325
NM_000531.6(OTC):c.386G>A (p.Arg129His)	SNV Germline	ChrX:38381429	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224568	rs_66656800	7 SubmittersRCV000011757 RCV000083414
NM_000531.6(OTC):c.444G>C (p.Leu148Phe)	SNV Unknown	ChrX:38401332	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224612	rs_66741318	2 SubmittersRCV000011758 RCV000083441
NM_000531.6(OTC):c.617T>G (p.Met206Arg)	SNV Germline	ChrX:38403694	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Single Submitter	CA224711	rs_72558412	3 SubmittersRCV000011759 RCV000083513
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	SNV Germline	ChrX:38367331	Pathogenic/Likely pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA090910	rs_72554307	12 SubmittersRCV000011760 RCV000083332
NM_000531.6(OTC):c.119G>A (p.Arg40His)	SNV Germline	ChrX:38367332	Pathogenic/Likely pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224454	rs_72554308	14 SubmittersRCV000011761 RCV000083333
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)	SNV Germline	ChrX:38352764	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148660170	3 SubmittersRCV002113113 RCV004046276
NM_000531.6(OTC):c.238A>G (p.Lys80Glu)	SNV Germline	ChrX:38369817	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA221089	rs_72554332	3 SubmittersRCV000079083 RCV003333024
NM_000531.6(OTC):c.1005+2T>C	SNV Germline	ChrX:38412001	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224431	rs_72558484	2 SubmittersRCV000083314 RCV004595917
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)	SNV Germline	ChrX:38421050	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA224442	rs_66469337	3 SubmittersRCV001063477 RCV000083324
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)	SNV Germline	ChrX:38421078	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA224450	rs_72558495	8 SubmittersRCV001095686 RCV000083329
NM_000531.6(OTC):c.122A>G (p.Asp41Gly)	SNV Germline	ChrX:38367335	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224455	rs_74518351	2 SubmittersRCV000083334 RCV001064676
NM_000531.6(OTC):c.131C>T (p.Thr44Ile)	SNV Germline	ChrX:38367344	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224459	rs_72554310	2 SubmittersRCV000083336 RCV001813756
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	SNV Germline	ChrX:38367353	Conflicting classifications of pathogenicity	not specified OTC-related disorder Inborn genetic diseases Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications	CA224463	rs_67939655	8 SubmittersRCV000454814 RCV003945033 RCV004955272 RCV000083340 RCV000148720
NM_000531.6(OTC):c.140A>T (p.Asn47Ile)	SNV Germline	ChrX:38367353	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224465	rs_67939655	2 SubmittersRCV000083341 RCV002513861
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)	SNV Germline	ChrX:38367361	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA224471	rs_67486158	4 SubmittersRCV001027709 RCV002247482 RCV000083345
NM_000531.6(OTC):c.154G>A (p.Glu52Lys)	SNV Germline	ChrX:38367367	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224474	rs_66521141	2 SubmittersRCV000083347 RCV000807816
NM_000531.6(OTC):c.154G>T (p.Glu52Ter)	SNV Germline	ChrX:38367367	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224476	rs_66521141	2 SubmittersRCV000083348 RCV002514458
NM_000531.6(OTC):c.158T>C (p.Ile53Thr)	SNV Germline	ChrX:38367371	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224482	rs_66677059	2 SubmittersRCV000083351 RCV000792966
NM_000531.6(OTC):c.174G>A (p.Trp58Ter)	SNV Germline	ChrX:38367387	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224490	rs_72554322	2 SubmittersRCV000083356 RCV003453009
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)	SNV Germline	ChrX:38367418	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224500	rs_72554326	4 SubmittersRCV000083362 RCV001385349
NM_000531.6(OTC):c.216+1G>A	SNV Germline	ChrX:38367430	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224502	rs_66693137	2 SubmittersRCV000083363 RCV002513862
NM_000531.6(OTC):c.217-1G>A	SNV Germline	ChrX:38369795	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	No Assertion Criteria Provided	CA224504	rs_72554327	2 SubmittersRCV000011752 RCV000083365
NM_000531.6(OTC):c.231G>T (p.Leu77Phe)	SNV Germline	ChrX:38369810	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224507	rs_72554329	2 SubmittersRCV000083367 RCV002514459
NM_000531.6(OTC):c.274C>T (p.Arg92Ter)	SNV Germline	ChrX:38369853	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224530	rs_67418243	4 SubmittersRCV000083383 RCV001854456
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)	SNV Germline	ChrX:38369854	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA285805	rs_66550389	7 SubmittersRCV000083384 RCV000990783
NM_000531.6(OTC):c.298+1G>A	SNV Germline	ChrX:38369878	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224543	rs_68058881	2 SubmittersRCV000083392 RCV000560147
NM_000531.6(OTC):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:38352698	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224547	rs_72552295	2 SubmittersRCV000083397 RCV001854457
NM_000531.6(OTC):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:38352699	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224584	rs_72552296	2 SubmittersRCV000083424 RCV002513863
NM_000531.6(OTC):c.407A>T (p.Asp136Val)	SNV Unknown	ChrX:38401295	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224589	rs_72556257	2 SubmittersRCV000083427 RCV000990785
NM_000531.6(OTC):c.416T>C (p.Leu139Ser)	SNV Germline	ChrX:38401304	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224594	rs_72556259	2 SubmittersRCV000083430 RCV003509490
NM_000531.6(OTC):c.418G>C (p.Ala140Pro)	SNV Germline	ChrX:38401306	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224595	rs_72556260	2 SubmittersRCV000083431 RCV000587672
NM_000531.6(OTC):c.422G>C (p.Arg141Pro)	SNV Unknown	ChrX:38401310	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224601	rs_68026851	2 SubmittersRCV000083435 RCV000990786
NM_000531.6(OTC):c.443T>C (p.Leu148Ser)	SNV Germline	ChrX:38401331	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224608	rs_67016166	2 SubmittersRCV000083439 RCV003323393
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)	SNV Germline	ChrX:38401370	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224635	rs_72556271	4 SubmittersRCV000083455 RCV000793302
NM_000531.6(OTC):c.484G>C (p.Gly162Arg)	SNV Germline	ChrX:38401372	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224637	rs_66626662	2 SubmittersRCV000083457 RCV001854458
NM_000531.6(OTC):c.503A>G (p.His168Arg)	SNV Germline	ChrX:38401391	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224651	rs_66867430	2 SubmittersRCV000083465 RCV001854459
NM_000531.6(OTC):c.505C>G (p.Pro169Ala)	SNV Germline	ChrX:38401393	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224653	rs_72556277	2 SubmittersRCV000083467 RCV000813314
NM_000531.6(OTC):c.506C>T (p.Pro169Leu)	SNV Unknown	ChrX:38401394	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224655	rs_72556278	2 SubmittersRCV000083468 RCV000990789
NM_000531.6(OTC):c.533C>T (p.Thr178Met)	SNV Germline	ChrX:38401421	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224668	rs_72556284	8 SubmittersRCV000083477 RCV001262181
NM_000531.6(OTC):c.540+1G>C	SNV Germline	ChrX:38401429	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224672	rs_72556288	2 SubmittersRCV000083480 RCV003509491
NM_000531.6(OTC):c.540G>C (p.Gln180His)	SNV Germline	ChrX:38401428	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224674	rs_72556287	2 SubmittersRCV000083483 RCV001385352
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)	SNV Germline	ChrX:38403625	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224679	rs_72556293	3 SubmittersRCV000083488 RCV001854460
NM_000531.6(OTC):c.577T>C (p.Trp193Arg)	SNV Germline	ChrX:38403654	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224684	rs_67284661	2 SubmittersRCV000083494 RCV001204241
NM_000531.6(OTC):c.583G>A (p.Gly195Arg)	SNV Germline	ChrX:38403660	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA285807	rs_67294955	4 SubmittersRCV000083497 RCV001232865
NM_000531.6(OTC):c.586G>A (p.Asp196Asn)	SNV Unknown	ChrX:38403663	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224691	rs_66642398	2 SubmittersRCV000083499 RCV004558299
NM_000531.6(OTC):c.586G>T (p.Asp196Tyr)	SNV Germline	ChrX:38403663	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224693	rs_66642398	2 SubmittersRCV000083500 RCV004783740
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)	SNV Germline	ChrX:38403666	Pathogenic/Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224695	rs_72556301	4 SubmittersRCV000083502 RCV001857404
NM_000531.6(OTC):c.596A>G (p.Asn199Ser)	SNV Germline	ChrX:38403673	Pathogenic/Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224702	rs_72558406	4 SubmittersRCV000083507 RCV001795155
NM_000531.6(OTC):c.602T>C (p.Leu201Pro)	SNV Germline	ChrX:38403679	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224704	rs_72558407	2 SubmittersRCV000083508 RCV003509492
NM_000531.6(OTC):c.604C>T (p.His202Tyr)	SNV Germline	ChrX:38403681	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224705	rs_72558408	2 SubmittersRCV000083509 RCV001265563
NM_000531.6(OTC):c.613A>G (p.Met205Val)	SNV Germline	ChrX:38403690	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224709	rs_72558411	2 SubmittersRCV000083512 RCV000634843
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)	SNV Germline	ChrX:38403698	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224715	rs_72558415	3 SubmittersRCV000083516 RCV003225028
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)	SNV Germline	ChrX:38403699	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA224716	rs_72558416	11 SubmittersRCV000083517 RCV001218092 RCV004019582
NM_000531.6(OTC):c.626C>T (p.Ala209Val)	SNV Germline	ChrX:38403703	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224717	rs_72558417	7 SubmittersRCV000083518 RCV000634844
NM_000531.6(OTC):c.663+1G>T	SNV Germline	ChrX:38403741	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224731	rs_68170503	4 SubmittersRCV000083528 RCV000634848
NM_000531.6(OTC):c.663+2T>C	SNV Germline	ChrX:38403742	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224732	rs_72558427	3 SubmittersRCV000083529 RCV002513864
NM_000531.6(OTC):c.67C>T (p.Arg23Ter)	SNV Germline	ChrX:38352763	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224742	rs_72552300	5 SubmittersRCV000083537 RCV001802797
NM_000531.6(OTC):c.698C>T (p.Ala233Val)	SNV Unknown	ChrX:38408776	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224744	rs_72558429	2 SubmittersRCV000083538 RCV004558300
NM_000531.6(OTC):c.717+1G>A	SNV Germline	ChrX:38408796	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224752	rs_66500027	2 SubmittersRCV000083542 RCV001854461
NM_000531.6(OTC):c.717+3A>G	SNV Germline	ChrX:38408798	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Single Submitter	CA224755	rs_72558432	3 SubmittersRCV000011744 RCV000083545
NM_000531.6(OTC):c.717G>A (p.Glu239=)	SNV Germline	ChrX:38408795	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224757	rs_66851495	2 SubmittersRCV000083547 RCV001307378
NM_000531.6(OTC):c.717G>C (p.Glu239Asp)	SNV Germline	ChrX:38408795	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224759	rs_66851495	3 SubmittersRCV000083548 RCV000990790
NM_000531.6(OTC):c.77+1G>A	SNV Germline	ChrX:38352774	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224773	rs_67077695	2 SubmittersRCV000083559 RCV001206949
NM_000531.6(OTC):c.790A>G (p.Thr264Ala)	SNV Germline	ChrX:38408948	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224789	rs_72558444	2 SubmittersRCV000083573 RCV002514461
NM_000531.6(OTC):c.803T>C (p.Met268Thr)	SNV Germline	ChrX:38408961	Pathogenic/Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224799	rs_72558449	3 SubmittersRCV000083580 RCV000702113
NM_000531.6(OTC):c.806G>A (p.Gly269Glu)	SNV Germline	ChrX:38408964	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224800	rs_72558450	2 SubmittersRCV000083581 RCV001378078
NM_000531.6(OTC):c.830G>A (p.Arg277Gln)	SNV Germline	ChrX:38408988	Pathogenic	Condition: not provided not specified Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224808	rs_66724222	6 SubmittersRCV000083587 RCV000507904 RCV001390293
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)	SNV Germline	ChrX:38411897	Pathogenic/Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224823	rs_72558462	5 SubmittersRCV000083598 RCV001228473
NM_000531.6(OTC):c.907T>G (p.Cys303Gly)	SNV Germline	ChrX:38411901	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224831	rs_67468335	2 SubmittersRCV000083605 RCV001854462
NM_000531.6(OTC):c.914C>G (p.Pro305Arg)	SNV Germline	ChrX:38411908	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224836	rs_67501347	2 SubmittersRCV000083609 RCV003509493
NM_000531.6(OTC):c.943G>T (p.Val315Phe)	SNV Germline	ChrX:38411937	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224846	rs_72558470	2 SubmittersRCV000083614 RCV000590461
NM_000531.6(OTC):c.944T>A (p.Val315Asp)	SNV Germline	ChrX:38411938	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224848	rs_67414444	4 SubmittersRCV000083615 RCV000690668
NM_000531.6(OTC):c.944T>G (p.Val315Gly)	SNV Germline	ChrX:38411938	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224850	rs_67414444	2 SubmittersRCV000083616 RCV001854463
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)	SNV Germline	ChrX:38411952	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA285809	rs_72558473	6 SubmittersRCV000083620 RCV000547443 RCV002514462
NM_000531.6(OTC):c.959G>T (p.Arg320Leu)	SNV Germline	ChrX:38411953	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA224858	rs_72558474	2 SubmittersRCV000083621 RCV001039339
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)	SNV Germline	ChrX:38411982	Pathogenic/Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA224864	rs_72558478	3 SubmittersRCV000083625 RCV001857406
NM_000531.6(OTC):c.870T>C (p.Thr290=)	SNV Germline	ChrX:38411864	Conflicting classifications of pathogenicity	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications	CA248002	rs_794727959	2 SubmittersRCV000180515 RCV002054149
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)	SNV Germline	ChrX:38411913	Conflicting classifications of pathogenicity	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications	CA312799	rs_796052013	3 SubmittersRCV000186068 RCV001257236
NM_000531.6(OTC):c.254T>C (p.Ile85Thr)	SNV Germline	ChrX:38369833	Likely pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided	CA10581559	rs_878853245	1 SubmittersRCV000225005
NM_000531.6(OTC):c.365A>G (p.Glu122Gly)	SNV Germline	ChrX:38381408	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412718508	rs_1131691517	2 SubmittersRCV000494134 RCV002527083
NM_000531.6(OTC):c.673C>T (p.Pro225Ser)	SNV Germline	ChrX:38408751	Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA327910816	rs_72558428	2 SubmittersRCV000493220 RCV003621541
NM_000531.6(OTC):c.517C>G (p.Leu173Val)	SNV Germline	ChrX:38401405	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided	CA412723953	rs_1131692152	1 SubmittersRCV000495847
NM_000531.6(OTC):c.298+2T>G	SNV Germline	ChrX:38369879	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412717048	rs_1555972538	4 SubmittersRCV000523661 RCV001049435
NM_000531.6(OTC):c.494A>G (p.Asp165Gly)	SNV Germline	ChrX:38401382	Conflicting classifications of pathogenicity	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications	CA412723703	rs_1555975685	2 SubmittersRCV000519095 RCV003485597
NM_000531.6(OTC):c.540+1G>T	SNV Germline	ChrX:38401429	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412724240	rs_72556288	2 SubmittersRCV000521373 RCV001857958
NM_000531.6(OTC):c.540+265G>A	SNV Germline	ChrX:38401693	Pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency Protein avoidance Hyperammonemia Abnormal circulating ornithine concentration	Criteria Provided Multiple Submitters No Conflicts	CA658658977	rs_1555975756	9 SubmittersRCV000521922 RCV000548908 RCV000626698
NC_000023.11:g.38352591C>A	SNV Germline	ChrX:38352591	Pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA327916723	rs_749748052	5 SubmittersRCV000627032 RCV000757584
NC_000023.11:g.38352558A>G	SNV Unknown	ChrX:38352558	Likely pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided	CA658799699	rs_1555971001	1 SubmittersRCV000627033
NC_000023.11:g.38352555G>A	SNV Germline	ChrX:38352555	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA658799698	rs_1555971000	2 SubmittersRCV000627034
NC_000023.11:g.38352540T>G	SNV Germline	ChrX:38352540	Likely pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided	CA658799697	rs_1555970997	1 SubmittersRCV000627037
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	SNV Germline	ChrX:38403685	Conflicting classifications of pathogenicity	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications	CA412725627	rs_72558410	4 SubmittersRCV000590045 RCV001089878
NM_000531.6(OTC):c.1005+11A>T	SNV Germline	ChrX:38412010	Conflicting classifications of pathogenicity	Global developmental delay Hyperammonemia Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications	CA10385965	rs_375524303	2 SubmittersRCV000626697 RCV001195864
NM_000531.6(OTC):c.593A>G (p.Asn198Ser)	SNV Germline	ChrX:38403670	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter	CA412725470	rs_72558403	1 SubmittersRCV000634847
NM_000531.6(OTC):c.867+1126A>G	SNV Germline	ChrX:38410151	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1569281032	2 SubmittersRCV000692422
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)	SNV Germline	ChrX:38411935	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_137899554	5 SubmittersRCV001276384 RCV002314418 RCV004777855
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)	SNV Germline	ChrX:38421036	Pathogenic/Likely pathogenic	Condition: not provided Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1569282905	3 SubmittersRCV000756453 RCV001376924
NM_000531.6(OTC):c.961T>C (p.Ser321Pro)	SNV Germline	ChrX:38411955	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_1569281354	1 SubmittersRCV000761321
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	SNV Germline	ChrX:38367329	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency not specified OTC-related disorder	Criteria Provided Conflicting Classifications		rs_1602014500	4 SubmittersRCV000810594 RCV001201208 RCV003892732
NM_000531.6(OTC):c.387-1G>A	SNV Unknown	ChrX:38401274	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_1602029522	1 SubmittersRCV000990784
NM_000531.6(OTC):c.491C>T (p.Ser164Leu)	SNV Unknown	ChrX:38401379	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72556274	1 SubmittersRCV000990787
NM_000531.6(OTC):c.485G>T (p.Gly162Val)	SNV Germline	ChrX:38401373	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72556272	1 SubmittersRCV001069139
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)	SNV Germline	ChrX:38401423	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068487136	1 SubmittersRCV001042147
NM_000531.6(OTC):c.614T>A (p.Met205Lys)	SNV Germline	ChrX:38403691	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068501940	1 SubmittersRCV001070203
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)	SNV Germline	ChrX:38421045	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72558491	1 SubmittersRCV001066217
NM_000531.6(OTC):c.652G>C (p.Ala218Pro)	SNV Germline	ChrX:38403729	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068502738	2 SubmittersRCV001089859
NM_000531.6(OTC):c.635G>T (p.Gly212Val)	SNV Germline	ChrX:38403712	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068502421	1 SubmittersRCV001089860
NM_000531.6(OTC):c.584G>C (p.Gly195Ala)	SNV Germline	ChrX:38403661	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068501410	1 SubmittersRCV001089861
NM_000531.6(OTC):c.488T>G (p.Leu163Arg)	SNV Germline	ChrX:38401376	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068486155	1 SubmittersRCV001089862
NM_000531.6(OTC):c.473C>T (p.Pro158Leu)	SNV Germline	ChrX:38401361	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068485732	1 SubmittersRCV001089866
NM_000531.6(OTC):c.298G>T (p.Gly100Cys)	SNV Germline	ChrX:38369877	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068315546	1 SubmittersRCV001089867
NM_000531.6(OTC):c.214G>A (p.Glu72Lys)	SNV Germline	ChrX:38367427	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068302412	1 SubmittersRCV001089868
NM_000531.6(OTC):c.77+5G>C	SNV Germline	ChrX:38352778	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72552302	2 SubmittersRCV001089869
NM_000531.6(OTC):c.766G>T (p.Gly256Ter)	SNV Germline	ChrX:38408924	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068529566	1 SubmittersRCV001089870
NM_000531.6(OTC):c.327T>A (p.Cys109Ter)	SNV Germline	ChrX:38381370	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068375565	1 SubmittersRCV001089871
NM_000531.6(OTC):c.740C>G (p.Thr247Arg)	SNV Germline	ChrX:38408898	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_72558437	1 SubmittersRCV001089873
NM_000531.6(OTC):c.944T>C (p.Val315Ala)	SNV Germline	ChrX:38411938	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_67414444	1 SubmittersRCV001089874
NM_000531.6(OTC):c.946T>G (p.Phe316Val)	SNV Germline	ChrX:38411940	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068545602	1 SubmittersRCV001089875
NM_000531.6(OTC):c.1015G>A (p.Val339Met)	SNV Germline	ChrX:38421032	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_72558488	1 SubmittersRCV001089877
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)	SNV Germline	ChrX:38411890	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications		rs_756772340	4 SubmittersRCV001167558
NM_000531.6(OTC):c.116G>C (p.Gly39Ala)	SNV Germline	ChrX:38367329	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_1602014500	1 SubmittersRCV001170078
NM_000531.6(OTC):c.217-2A>G	SNV Germline	ChrX:38369794	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068314699	1 SubmittersRCV001170079
NM_000531.6(OTC):c.128T>C (p.Leu43Pro)	SNV Germline	ChrX:38367341	Pathogenic	Ornithine carbamoyltransferase deficiency	No Assertion Criteria Provided		rs_2068301622	1 SubmittersRCV001201344
NM_000531.6(OTC):c.604C>G (p.His202Asp)	SNV Germline	ChrX:38403681	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72558408	1 SubmittersRCV001221148
NM_000531.6(OTC):c.959G>C (p.Arg320Pro)	SNV Germline	ChrX:38411953	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72558474	2 SubmittersRCV001203914
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)	SNV Germline	ChrX:38369865	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications		rs_184053962	2 SubmittersRCV001233433
NM_000531.6(OTC):c.626C>A (p.Ala209Glu)	SNV Germline	ChrX:38403703	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72558417	1 SubmittersRCV001227742
NM_000531.6(OTC):c.403G>C (p.Ala135Pro)	SNV Germline	ChrX:38401291	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_770910923	1 SubmittersRCV001240472
NM_000531.6(OTC):c.617T>A (p.Met206Lys)	SNV Germline	ChrX:38403694	Likely pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_72558412	2 SubmittersRCV001244170 RCV001566704
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)	SNV Germline	ChrX:38367298	Conflicting classifications of pathogenicity	not specified Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752916728	4 SubmittersRCV001249000 RCV001511499 RCV002447234
NM_000531.6(OTC):c.588T>A (p.Asp196Glu)	SNV Germline	ChrX:38403665	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068501518	1 SubmittersRCV001295432
NM_000531.6(OTC):c.731T>C (p.Leu244Pro)	SNV Unknown	ChrX:38408889	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72558436	1 SubmittersRCV001329969
NM_000531.6(OTC):c.629A>C (p.Lys210Thr)	SNV Germline	ChrX:38403706	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068502349	1 SubmittersRCV001337278
NM_000531.6(OTC):c.488T>A (p.Leu163Gln)	SNV Germline	ChrX:38401376	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068486155	1 SubmittersRCV001375871
NM_000531.6(OTC):c.505C>T (p.Pro169Ser)	SNV Germline	ChrX:38401393	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72556277	1 SubmittersRCV001378099
NM_000531.6(OTC):c.535C>G (p.Leu179Val)	SNV Germline	ChrX:38401423	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068487136	1 SubmittersRCV001379672
NM_000531.6(OTC):c.674C>A (p.Pro225Gln)	SNV Germline	ChrX:38408752	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_67120076	1 SubmittersRCV001378599
NM_000531.6(OTC):c.429T>A (p.Tyr143Ter)	SNV Germline	ChrX:38401317	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_145777402	1 SubmittersRCV001385350
NM_000531.6(OTC):c.717+5G>A	SNV Germline	ChrX:38408800	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_747637190	2 SubmittersRCV001431007 RCV002377693
NM_000531.6(OTC):c.618G>A (p.Met206Ile)	SNV Germline	ChrX:38403695	Pathogenic/Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_72558413	2 SubmittersRCV001724781
NM_000531.6(OTC):c.241T>C (p.Ser81Pro)	SNV Germline	ChrX:38369820	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_2147324956	2 SubmittersRCV002028760 RCV004774604
NM_000531.6(OTC):c.419C>T (p.Ala140Val)	SNV Germline	ChrX:38401307	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency not specified	Criteria Provided Conflicting Classifications		rs_2147341270	2 SubmittersRCV001977988 RCV004690210
NM_000531.6(OTC):c.89C>A (p.Pro30Gln)	SNV Germline	ChrX:38367302	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_753712951	2 SubmittersRCV001966154 RCV003355712
NM_000531.6(OTC):c.485G>C (p.Gly162Ala)	SNV Germline	ChrX:38401373	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency OTC-related disorder not specified	Criteria Provided Conflicting Classifications		rs_72556272	4 SubmittersRCV001951887 RCV004731199 RCV004801091
NM_000531.6(OTC):c.562G>A (p.Gly188Ser)	SNV Germline	ChrX:38403639	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72556294	1 SubmittersRCV002008441
NM_000531.6(OTC):c.904C>G (p.His302Asp)	SNV Germline	ChrX:38411898	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72558463	1 SubmittersRCV002045039
NM_000531.6(OTC):c.722G>A (p.Gly241Asp)	SNV Germline	ChrX:38408880	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1461226043	3 SubmittersRCV001928943 RCV004656745
NM_000531.6(OTC):c.614T>C (p.Met205Thr)	SNV Germline	ChrX:38403691	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2068501940	1 SubmittersRCV001866601
NM_000531.6(OTC):c.395C>A (p.Ser132Tyr)	SNV Germline	ChrX:38401283	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_72556254	1 SubmittersRCV001942062
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)	SNV Germline	ChrX:38421080	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications		rs_2147349974	2 SubmittersRCV001963887
NM_000531.6(OTC):c.478A>T (p.Ile160Phe)	SNV Germline	ChrX:38401366	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2147341364	1 SubmittersRCV002030590
NM_000531.6(OTC):c.78-1G>T	SNV Germline	ChrX:38367290	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_281865554	1 SubmittersRCV001994992
NM_000531.6(OTC):c.579G>T (p.Trp193Cys)	SNV Germline	ChrX:38403656	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2147342649	1 SubmittersRCV001916012
NM_000531.6(OTC):c.540+1G>A	SNV Germline	ChrX:38401429	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_72556288	2 SubmittersRCV001956543
NM_000531.6(OTC):c.758C>A (p.Ala253Glu)	SNV Germline	ChrX:38408916	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2147345110	1 SubmittersRCV001986043
NM_000531.6(OTC):c.539A>C (p.Gln180Pro)	SNV Germline	ChrX:38401427	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2147341500	1 SubmittersRCV002045240
NM_000531.6(OTC):c.299-2A>G	SNV Germline	ChrX:38381340	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_2147330536	1 SubmittersRCV002038550
NM_000531.6(OTC):c.380C>T (p.Thr127Met)	SNV Germline	ChrX:38381423	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency not specified	Criteria Provided Conflicting Classifications		rs_762910963	2 SubmittersRCV002075289 RCV002282687
NM_000531.6(OTC):c.449C>A (p.Thr150Asn)	SNV Germline	ChrX:38401337	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications		rs_766735977	2 SubmittersRCV002111062
NM_000531.6(OTC):c.736C>G (p.Leu246Val)	SNV Germline	ChrX:38408894	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications		rs_1168053730	2 SubmittersRCV002120626
NM_000531.6(OTC):c.77G>T (p.Arg26Leu)	SNV Germline	ChrX:38352773	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter		rs_68031618	1 SubmittersRCV002249117
NM_000531.6(OTC):c.867G>A (p.Lys289=)	SNV Germline	ChrX:38409025	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications		rs_72558456	2 SubmittersRCV002250167
NM_000531.6(OTC):c.179C>A (p.Ser60Ter)	SNV Unknown	ChrX:38367392	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002309665
NM_000531.6(OTC):c.826A>T (p.Lys276Ter)	SNV Unknown	ChrX:38408984	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002309708
NM_000531.6(OTC):c.262A>T (p.Lys88Ter)	SNV Unknown	ChrX:38369841	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002307193
NM_000531.6(OTC):c.208A>T (p.Lys70Ter)	SNV Unknown	ChrX:38367421	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002307237
NM_000531.6(OTC):c.814G>T (p.Glu272Ter)	SNV Unknown	ChrX:38408972	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002310253
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)	SNV Germline	ChrX:38403740	Pathogenic/Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002469986
NM_000531.6(OTC):c.1039C>T (p.Pro347Ser)	SNV Germline	ChrX:38421056	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041439
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)	SNV Germline	ChrX:38403705	Likely pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002510348 RCV004798004
NM_000531.6(OTC):c.376G>A (p.Asp126Asn)	SNV Germline	ChrX:38381419	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002736053
NM_000531.6(OTC):c.448A>T (p.Thr150Ser)	SNV Germline	ChrX:38401336	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002828383
NM_000531.6(OTC):c.803T>A (p.Met268Lys)	SNV Germline	ChrX:38408961	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002894285
NM_000531.6(OTC):c.929A>T (p.Glu310Val)	SNV Germline	ChrX:38411923	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002881931
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)	SNV Germline	ChrX:38403699	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications			4 SubmittersRCV003009009 RCV004526215 RCV004774772
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)	SNV Germline	ChrX:38352706	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003018428
NM_000531.6(OTC):c.350A>C (p.His117Pro)	SNV Germline	ChrX:38381393	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003022883
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)	SNV Germline	ChrX:38403706	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003014684
NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)	SNV Germline	ChrX:38421051	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003020379
NM_000531.6(OTC):c.134T>G (p.Leu45Arg)	SNV Germline	ChrX:38367347	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003040285
NM_000531.6(OTC):c.853C>T (p.Gln285Ter)	SNV Germline	ChrX:38409011	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003317773
NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)	SNV Unknown	ChrX:38401411	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003333373
NM_000531.6(OTC):c.78-2A>G	SNV Unknown	ChrX:38367289	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003333624
NM_000531.6(OTC):c.607T>C (p.Ser203Pro)	SNV Germline	ChrX:38403684	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003335858
NM_000531.6(OTC):c.437C>A (p.Ser146Ter)	SNV Germline	ChrX:38401325	Pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003335973
NM_000531.6(OTC):c.618G>T (p.Met206Ile)	SNV Germline	ChrX:38403695	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003387702 RCV004587487
NM_000531.6(OTC):c.717G>T (p.Glu239Asp)	SNV Germline	ChrX:38408795	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003447661
NM_000531.6(OTC):c.563G>C (p.Gly188Ala)	SNV Germline	ChrX:38403640	Likely pathogenic	Ornithine carbamoyltransferase deficiency OTC-related disorder	Criteria Provided Single Submitter			2 SubmittersRCV003471646 RCV004731536
NM_000531.6(OTC):c.298+2T>C	SNV Germline	ChrX:38369879	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003471647 RCV004661662
NM_000531.6(OTC):c.1006-2A>G	SNV Unknown	ChrX:38421021	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003476582
NM_000531.6(OTC):c.477T>G (p.Ile159Met)	SNV Unknown	ChrX:38401365	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003455845
NM_000531.6(OTC):c.119G>T (p.Arg40Leu)	SNV Germline	ChrX:38367332	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003509053
NM_000531.6(OTC):c.943G>A (p.Val315Ile)	SNV Germline	ChrX:38411937	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003621784
NM_000531.6(OTC):c.480C>G (p.Ile160Met)	SNV Germline	ChrX:38401368	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003622969
NM_000531.6(OTC):c.804G>C (p.Met268Ile)	SNV Germline	ChrX:38408962	Likely pathogenic	Ornithine carbamoyltransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003831035 RCV004767488
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)	SNV Germline	ChrX:38421044	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003873155
NM_000531.6(OTC):c.502C>T (p.His168Tyr)	SNV Germline	ChrX:38401390	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003985958
NM_000531.6(OTC):c.116G>T (p.Gly39Val)	SNV Germline	ChrX:38367329	Likely pathogenic	Ornithine carbamoyltransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004566520

NM_000531.6(OTC):c.422G>A (p.Arg141Gln)

SNV
Germline

ChrX:38401310

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224600

rs_68026851

8 SubmittersRCV000011734 RCV000083434

NM_000531.6(OTC):c.421C>T (p.Arg141Ter)

SNV
Germline

ChrX:38401309

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA224598

rs_67960011

3 SubmittersRCV000011735 RCV000083433

NM_000531.6(OTC):c.332T>C (p.Leu111Pro)

SNV
Germline

ChrX:38381375

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

CA255645

rs_1800324

1 SubmittersRCV000011736

NM_000531.6(OTC):c.646C>G (p.Gln216Glu)

SNV
Germline

ChrX:38403723

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224724

rs_72558423

2 SubmittersRCV000011737 RCV000083523

NM_000531.6(OTC):c.460G>T (p.Glu154Ter)

SNV
Germline

ChrX:38401348

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA224619

rs_72556267

3 SubmittersRCV000011738 RCV000083446

NM_000531.6(OTC):c.134T>C (p.Leu45Pro)

SNV
Germline

ChrX:38367347

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224461

rs_72554312

2 SubmittersRCV000011739 RCV000083338

NM_000531.6(OTC):c.77G>A (p.Arg26Gln)

SNV
Germline

ChrX:38352773

Pathogenic/Likely pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA255647

rs_68031618

6 SubmittersRCV000011740 RCV000083565 RCV002408456

NM_000531.6(OTC):c.717+2T>C

SNV
Germline

ChrX:38408797

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224754

rs_72558431

2 SubmittersRCV000011743 RCV000083544

NM_000531.6(OTC):c.387-2A>T

SNV
Germline

ChrX:38401273

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA224575

rs_66556380

3 SubmittersRCV000011745 RCV000083419

NM_000531.6(OTC):c.829C>T (p.Arg277Trp)

SNV
Germline

ChrX:38408987

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255648

rs_72558454

9 SubmittersRCV000011746 RCV000083586

NM_000531.6(OTC):c.674C>T (p.Pro225Leu)

SNV
Germline

ChrX:38408752

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224741

rs_67120076

7 SubmittersRCV000011747 RCV000083536

NM_000531.6(OTC):c.259G>A (p.Glu87Lys)

SNV
Germline

ChrX:38369838

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224520

rs_72554338

2 SubmittersRCV000011748 RCV000083376

NM_000531.6(OTC):c.148G>T (p.Gly50Ter)

SNV
Germline

ChrX:38367361

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224472

rs_67486158

2 SubmittersRCV000011749 RCV000083346

NM_000531.6(OTC):c.484G>A (p.Gly162Arg)

SNV
Germline

ChrX:38401372

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224636

rs_66626662

2 SubmittersRCV000011750 RCV000083456

NM_000531.6(OTC):c.236G>A (p.Gly79Glu)

SNV
Germline

ChrX:38369815

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224511

rs_72554331

2 SubmittersRCV000011753 RCV000083369

NM_000531.6(OTC):c.281G>C (p.Arg94Thr)

SNV
Germline

ChrX:38369860

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224537

rs_72554345

2 SubmittersRCV000011754 RCV000083388

NM_000531.6(OTC):c.912G>T (p.Leu304Phe)

SNV
Germline

ChrX:38411906

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA224834

rs_72558465

3 SubmittersRCV000011755 RCV000083607

NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp)

SNV
Germline

ChrX:38421050

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224444

rs_66469337

2 SubmittersRCV000011756 RCV000083325

NM_000531.6(OTC):c.386G>A (p.Arg129His)

SNV
Germline

ChrX:38381429

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224568

rs_66656800

7 SubmittersRCV000011757 RCV000083414

NM_000531.6(OTC):c.444G>C (p.Leu148Phe)

SNV
Unknown

ChrX:38401332

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224612

rs_66741318

2 SubmittersRCV000011758 RCV000083441

NM_000531.6(OTC):c.617T>G (p.Met206Arg)

SNV
Germline

ChrX:38403694

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA224711

rs_72558412

3 SubmittersRCV000011759 RCV000083513

NM_000531.6(OTC):c.118C>T (p.Arg40Cys)

SNV
Germline

ChrX:38367331

Pathogenic/Likely pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA090910

rs_72554307

12 SubmittersRCV000011760 RCV000083332

NM_000531.6(OTC):c.119G>A (p.Arg40His)

SNV
Germline

ChrX:38367332

Pathogenic/Likely pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224454

rs_72554308

14 SubmittersRCV000011761 RCV000083333

NM_000531.6(OTC):c.68G>A (p.Arg23Gln)

SNV
Germline

ChrX:38352764

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148660170

3 SubmittersRCV002113113 RCV004046276

NM_000531.6(OTC):c.238A>G (p.Lys80Glu)

SNV
Germline

ChrX:38369817

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA221089

rs_72554332

3 SubmittersRCV000079083 RCV003333024

NM_000531.6(OTC):c.1005+2T>C

SNV
Germline

ChrX:38412001

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224431

rs_72558484

2 SubmittersRCV000083314 RCV004595917

NM_000531.6(OTC):c.1033T>C (p.Tyr345His)

SNV
Germline

ChrX:38421050

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224442

rs_66469337

3 SubmittersRCV001063477 RCV000083324

NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)

SNV
Germline

ChrX:38421078

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224450

rs_72558495

8 SubmittersRCV001095686 RCV000083329

NM_000531.6(OTC):c.122A>G (p.Asp41Gly)

SNV
Germline

ChrX:38367335

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224455

rs_74518351

2 SubmittersRCV000083334 RCV001064676

NM_000531.6(OTC):c.131C>T (p.Thr44Ile)

SNV
Germline

ChrX:38367344

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224459

rs_72554310

2 SubmittersRCV000083336 RCV001813756

NM_000531.6(OTC):c.140A>C (p.Asn47Thr)

SNV
Germline

ChrX:38367353

Conflicting classifications of pathogenicity

not specified
OTC-related disorder
Inborn genetic diseases
Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

CA224463

rs_67939655

8 SubmittersRCV000454814 RCV003945033 RCV004955272 RCV000083340 RCV000148720

NM_000531.6(OTC):c.140A>T (p.Asn47Ile)

SNV
Germline

ChrX:38367353

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224465

rs_67939655

2 SubmittersRCV000083341 RCV002513861

NM_000531.6(OTC):c.148G>A (p.Gly50Arg)

SNV
Germline

ChrX:38367361

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA224471

rs_67486158

4 SubmittersRCV001027709 RCV002247482 RCV000083345

NM_000531.6(OTC):c.154G>A (p.Glu52Lys)

SNV
Germline

ChrX:38367367

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224474

rs_66521141

2 SubmittersRCV000083347 RCV000807816

NM_000531.6(OTC):c.154G>T (p.Glu52Ter)

SNV
Germline

ChrX:38367367

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224476

rs_66521141

2 SubmittersRCV000083348 RCV002514458

NM_000531.6(OTC):c.158T>C (p.Ile53Thr)

SNV
Germline

ChrX:38367371

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224482

rs_66677059

2 SubmittersRCV000083351 RCV000792966

NM_000531.6(OTC):c.174G>A (p.Trp58Ter)

SNV
Germline

ChrX:38367387

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224490

rs_72554322

2 SubmittersRCV000083356 RCV003453009

NM_000531.6(OTC):c.205C>T (p.Gln69Ter)

SNV
Germline

ChrX:38367418

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224500

rs_72554326

4 SubmittersRCV000083362 RCV001385349

NM_000531.6(OTC):c.216+1G>A

SNV
Germline

ChrX:38367430

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224502

rs_66693137

2 SubmittersRCV000083363 RCV002513862

NM_000531.6(OTC):c.217-1G>A

SNV
Germline

ChrX:38369795

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

No Assertion Criteria Provided

CA224504

rs_72554327

2 SubmittersRCV000011752 RCV000083365

NM_000531.6(OTC):c.231G>T (p.Leu77Phe)

SNV
Germline

ChrX:38369810

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224507

rs_72554329

2 SubmittersRCV000083367 RCV002514459

NM_000531.6(OTC):c.274C>T (p.Arg92Ter)

SNV
Germline

ChrX:38369853

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224530

rs_67418243

4 SubmittersRCV000083383 RCV001854456

NM_000531.6(OTC):c.275G>A (p.Arg92Gln)

SNV
Germline

ChrX:38369854

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA285805

rs_66550389

7 SubmittersRCV000083384 RCV000990783

NM_000531.6(OTC):c.298+1G>A

SNV
Germline

ChrX:38369878

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224543

rs_68058881

2 SubmittersRCV000083392 RCV000560147

NM_000531.6(OTC):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:38352698

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224547

rs_72552295

2 SubmittersRCV000083397 RCV001854457

NM_000531.6(OTC):c.3G>A (p.Met1Ile)

SNV
Germline

ChrX:38352699

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224584

rs_72552296

2 SubmittersRCV000083424 RCV002513863

NM_000531.6(OTC):c.407A>T (p.Asp136Val)

SNV
Unknown

ChrX:38401295

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224589

rs_72556257

2 SubmittersRCV000083427 RCV000990785

NM_000531.6(OTC):c.416T>C (p.Leu139Ser)

SNV
Germline

ChrX:38401304

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224594

rs_72556259

2 SubmittersRCV000083430 RCV003509490

NM_000531.6(OTC):c.418G>C (p.Ala140Pro)

SNV
Germline

ChrX:38401306

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224595

rs_72556260

2 SubmittersRCV000083431 RCV000587672

NM_000531.6(OTC):c.422G>C (p.Arg141Pro)

SNV
Unknown

ChrX:38401310

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224601

rs_68026851

2 SubmittersRCV000083435 RCV000990786

NM_000531.6(OTC):c.443T>C (p.Leu148Ser)

SNV
Germline

ChrX:38401331

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224608

rs_67016166

2 SubmittersRCV000083439 RCV003323393

NM_000531.6(OTC):c.482A>G (p.Asn161Ser)

SNV
Germline

ChrX:38401370

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224635

rs_72556271

4 SubmittersRCV000083455 RCV000793302

NM_000531.6(OTC):c.484G>C (p.Gly162Arg)

SNV
Germline

ChrX:38401372

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224637

rs_66626662

2 SubmittersRCV000083457 RCV001854458

NM_000531.6(OTC):c.503A>G (p.His168Arg)

SNV
Germline

ChrX:38401391

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224651

rs_66867430

2 SubmittersRCV000083465 RCV001854459

NM_000531.6(OTC):c.505C>G (p.Pro169Ala)

SNV
Germline

ChrX:38401393

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224653

rs_72556277

2 SubmittersRCV000083467 RCV000813314

NM_000531.6(OTC):c.506C>T (p.Pro169Leu)

SNV
Unknown

ChrX:38401394

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224655

rs_72556278

2 SubmittersRCV000083468 RCV000990789

NM_000531.6(OTC):c.533C>T (p.Thr178Met)

SNV
Germline

ChrX:38401421

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224668

rs_72556284

8 SubmittersRCV000083477 RCV001262181

NM_000531.6(OTC):c.540+1G>C

SNV
Germline

ChrX:38401429

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224672

rs_72556288

2 SubmittersRCV000083480 RCV003509491

NM_000531.6(OTC):c.540G>C (p.Gln180His)

SNV
Germline

ChrX:38401428

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224674

rs_72556287

2 SubmittersRCV000083483 RCV001385352

NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)

SNV
Germline

ChrX:38403625

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224679

rs_72556293

3 SubmittersRCV000083488 RCV001854460

NM_000531.6(OTC):c.577T>C (p.Trp193Arg)

SNV
Germline

ChrX:38403654

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224684

rs_67284661

2 SubmittersRCV000083494 RCV001204241

NM_000531.6(OTC):c.583G>A (p.Gly195Arg)

SNV
Germline

ChrX:38403660

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA285807

rs_67294955

4 SubmittersRCV000083497 RCV001232865

NM_000531.6(OTC):c.586G>A (p.Asp196Asn)

SNV
Unknown

ChrX:38403663

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224691

rs_66642398

2 SubmittersRCV000083499 RCV004558299

NM_000531.6(OTC):c.586G>T (p.Asp196Tyr)

SNV
Germline

ChrX:38403663

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224693

rs_66642398

2 SubmittersRCV000083500 RCV004783740

NM_000531.6(OTC):c.589G>A (p.Gly197Arg)

SNV
Germline

ChrX:38403666

Pathogenic/Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224695

rs_72556301

4 SubmittersRCV000083502 RCV001857404

NM_000531.6(OTC):c.596A>G (p.Asn199Ser)

SNV
Germline

ChrX:38403673

Pathogenic/Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224702

rs_72558406

4 SubmittersRCV000083507 RCV001795155

NM_000531.6(OTC):c.602T>C (p.Leu201Pro)

SNV
Germline

ChrX:38403679

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224704

rs_72558407

2 SubmittersRCV000083508 RCV003509492

NM_000531.6(OTC):c.604C>T (p.His202Tyr)

SNV
Germline

ChrX:38403681

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224705

rs_72558408

2 SubmittersRCV000083509 RCV001265563

NM_000531.6(OTC):c.613A>G (p.Met205Val)

SNV
Germline

ChrX:38403690

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224709

rs_72558411

2 SubmittersRCV000083512 RCV000634843

NM_000531.6(OTC):c.621C>A (p.Ser207Arg)

SNV
Germline

ChrX:38403698

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224715

rs_72558415

3 SubmittersRCV000083516 RCV003225028

NM_000531.6(OTC):c.622G>A (p.Ala208Thr)

SNV
Germline

ChrX:38403699

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA224716

rs_72558416

11 SubmittersRCV000083517 RCV001218092 RCV004019582

NM_000531.6(OTC):c.626C>T (p.Ala209Val)

SNV
Germline

ChrX:38403703

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224717

rs_72558417

7 SubmittersRCV000083518 RCV000634844

NM_000531.6(OTC):c.663+1G>T

SNV
Germline

ChrX:38403741

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224731

rs_68170503

4 SubmittersRCV000083528 RCV000634848

NM_000531.6(OTC):c.663+2T>C

SNV
Germline

ChrX:38403742

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224732

rs_72558427

3 SubmittersRCV000083529 RCV002513864

NM_000531.6(OTC):c.67C>T (p.Arg23Ter)

SNV
Germline

ChrX:38352763

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224742

rs_72552300

5 SubmittersRCV000083537 RCV001802797

NM_000531.6(OTC):c.698C>T (p.Ala233Val)

SNV
Unknown

ChrX:38408776

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224744

rs_72558429

2 SubmittersRCV000083538 RCV004558300

NM_000531.6(OTC):c.717+1G>A

SNV
Germline

ChrX:38408796

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224752

rs_66500027

2 SubmittersRCV000083542 RCV001854461

NM_000531.6(OTC):c.717+3A>G

SNV
Germline

ChrX:38408798

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA224755

rs_72558432

3 SubmittersRCV000011744 RCV000083545

NM_000531.6(OTC):c.717G>A (p.Glu239=)

SNV
Germline

ChrX:38408795

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224757

rs_66851495

2 SubmittersRCV000083547 RCV001307378

NM_000531.6(OTC):c.717G>C (p.Glu239Asp)

SNV
Germline

ChrX:38408795

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224759

rs_66851495

3 SubmittersRCV000083548 RCV000990790

NM_000531.6(OTC):c.77+1G>A

SNV
Germline

ChrX:38352774

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224773

rs_67077695

2 SubmittersRCV000083559 RCV001206949

NM_000531.6(OTC):c.790A>G (p.Thr264Ala)

SNV
Germline

ChrX:38408948

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224789

rs_72558444

2 SubmittersRCV000083573 RCV002514461

NM_000531.6(OTC):c.803T>C (p.Met268Thr)

SNV
Germline

ChrX:38408961

Pathogenic/Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224799

rs_72558449

3 SubmittersRCV000083580 RCV000702113

NM_000531.6(OTC):c.806G>A (p.Gly269Glu)

SNV
Germline

ChrX:38408964

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224800

rs_72558450

2 SubmittersRCV000083581 RCV001378078

NM_000531.6(OTC):c.830G>A (p.Arg277Gln)

SNV
Germline

ChrX:38408988

Pathogenic

Condition: not provided
not specified
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224808

rs_66724222

6 SubmittersRCV000083587 RCV000507904 RCV001390293

NM_000531.6(OTC):c.903A>T (p.Leu301Phe)

SNV
Germline

ChrX:38411897

Pathogenic/Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224823

rs_72558462

5 SubmittersRCV000083598 RCV001228473

NM_000531.6(OTC):c.907T>G (p.Cys303Gly)

SNV
Germline

ChrX:38411901

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224831

rs_67468335

2 SubmittersRCV000083605 RCV001854462

NM_000531.6(OTC):c.914C>G (p.Pro305Arg)

SNV
Germline

ChrX:38411908

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224836

rs_67501347

2 SubmittersRCV000083609 RCV003509493

NM_000531.6(OTC):c.943G>T (p.Val315Phe)

SNV
Germline

ChrX:38411937

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224846

rs_72558470

2 SubmittersRCV000083614 RCV000590461

NM_000531.6(OTC):c.944T>A (p.Val315Asp)

SNV
Germline

ChrX:38411938

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224848

rs_67414444

4 SubmittersRCV000083615 RCV000690668

NM_000531.6(OTC):c.944T>G (p.Val315Gly)

SNV
Germline

ChrX:38411938

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224850

rs_67414444

2 SubmittersRCV000083616 RCV001854463

NM_000531.6(OTC):c.958C>T (p.Arg320Ter)

SNV
Germline

ChrX:38411952

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA285809

rs_72558473

6 SubmittersRCV000083620 RCV000547443 RCV002514462

NM_000531.6(OTC):c.959G>T (p.Arg320Leu)

SNV
Germline

ChrX:38411953

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA224858

rs_72558474

2 SubmittersRCV000083621 RCV001039339

NM_000531.6(OTC):c.988A>G (p.Arg330Gly)

SNV
Germline

ChrX:38411982

Pathogenic/Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA224864

rs_72558478

3 SubmittersRCV000083625 RCV001857406

NM_000531.6(OTC):c.870T>C (p.Thr290=)

SNV
Germline

ChrX:38411864

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

CA248002

rs_794727959

2 SubmittersRCV000180515 RCV002054149

NM_000531.6(OTC):c.919A>G (p.Lys307Glu)

SNV
Germline

ChrX:38411913

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

CA312799

rs_796052013

3 SubmittersRCV000186068 RCV001257236

NM_000531.6(OTC):c.254T>C (p.Ile85Thr)

SNV
Germline

ChrX:38369833

Likely pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

CA10581559

rs_878853245

1 SubmittersRCV000225005

NM_000531.6(OTC):c.365A>G (p.Glu122Gly)

SNV
Germline

ChrX:38381408

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412718508

rs_1131691517

2 SubmittersRCV000494134 RCV002527083

NM_000531.6(OTC):c.673C>T (p.Pro225Ser)

SNV
Germline

ChrX:38408751

Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA327910816

rs_72558428

2 SubmittersRCV000493220 RCV003621541

NM_000531.6(OTC):c.517C>G (p.Leu173Val)

SNV
Germline

ChrX:38401405

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

CA412723953

rs_1131692152

1 SubmittersRCV000495847

NM_000531.6(OTC):c.298+2T>G

SNV
Germline

ChrX:38369879

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412717048

rs_1555972538

4 SubmittersRCV000523661 RCV001049435

NM_000531.6(OTC):c.494A>G (p.Asp165Gly)

SNV
Germline

ChrX:38401382

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

CA412723703

rs_1555975685

2 SubmittersRCV000519095 RCV003485597

NM_000531.6(OTC):c.540+1G>T

SNV
Germline

ChrX:38401429

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412724240

rs_72556288

2 SubmittersRCV000521373 RCV001857958

NM_000531.6(OTC):c.540+265G>A

SNV
Germline

ChrX:38401693

Pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency
Protein avoidance
Hyperammonemia
Abnormal circulating ornithine concentration

Criteria Provided
Multiple Submitters
No Conflicts

CA658658977

rs_1555975756

9 SubmittersRCV000521922 RCV000548908 RCV000626698

NC_000023.11:g.38352591C>A

SNV
Germline

ChrX:38352591

Pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA327916723

rs_749748052

5 SubmittersRCV000627032 RCV000757584

NC_000023.11:g.38352558A>G

SNV
Unknown

ChrX:38352558

Likely pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

CA658799699

rs_1555971001

1 SubmittersRCV000627033

NC_000023.11:g.38352555G>A

SNV
Germline

ChrX:38352555

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA658799698

rs_1555971000

2 SubmittersRCV000627034

NC_000023.11:g.38352540T>G

SNV
Germline

ChrX:38352540

Likely pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

CA658799697

rs_1555970997

1 SubmittersRCV000627037

NM_000531.6(OTC):c.608C>T (p.Ser203Phe)

SNV
Germline

ChrX:38403685

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

CA412725627

rs_72558410

4 SubmittersRCV000590045 RCV001089878

NM_000531.6(OTC):c.1005+11A>T

SNV
Germline

ChrX:38412010

Conflicting classifications of pathogenicity

Global developmental delay
Hyperammonemia
Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

CA10385965

rs_375524303

2 SubmittersRCV000626697 RCV001195864

NM_000531.6(OTC):c.593A>G (p.Asn198Ser)

SNV
Germline

ChrX:38403670

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

CA412725470

rs_72558403

1 SubmittersRCV000634847

NM_000531.6(OTC):c.867+1126A>G

SNV
Germline

ChrX:38410151

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569281032

2 SubmittersRCV000692422

NM_000531.6(OTC):c.941A>C (p.Glu314Ala)

SNV
Germline

ChrX:38411935

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_137899554

5 SubmittersRCV001276384 RCV002314418 RCV004777855

NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)

SNV
Germline

ChrX:38421036

Pathogenic/Likely pathogenic

Condition: not provided
Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569282905

3 SubmittersRCV000756453 RCV001376924

NM_000531.6(OTC):c.961T>C (p.Ser321Pro)

SNV
Germline

ChrX:38411955

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_1569281354

1 SubmittersRCV000761321

NM_000531.6(OTC):c.116G>A (p.Gly39Asp)

SNV
Germline

ChrX:38367329

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
not specified
OTC-related disorder

Criteria Provided
Conflicting Classifications

rs_1602014500

4 SubmittersRCV000810594 RCV001201208 RCV003892732

NM_000531.6(OTC):c.387-1G>A

SNV
Unknown

ChrX:38401274

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_1602029522

1 SubmittersRCV000990784

NM_000531.6(OTC):c.491C>T (p.Ser164Leu)

SNV
Unknown

ChrX:38401379

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72556274

1 SubmittersRCV000990787

NM_000531.6(OTC):c.485G>T (p.Gly162Val)

SNV
Germline

ChrX:38401373

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72556272

1 SubmittersRCV001069139

NM_000531.6(OTC):c.535C>T (p.Leu179Phe)

SNV
Germline

ChrX:38401423

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068487136

1 SubmittersRCV001042147

NM_000531.6(OTC):c.614T>A (p.Met205Lys)

SNV
Germline

ChrX:38403691

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068501940

1 SubmittersRCV001070203

NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)

SNV
Germline

ChrX:38421045

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72558491

1 SubmittersRCV001066217

NM_000531.6(OTC):c.652G>C (p.Ala218Pro)

SNV
Germline

ChrX:38403729

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068502738

2 SubmittersRCV001089859

NM_000531.6(OTC):c.635G>T (p.Gly212Val)

SNV
Germline

ChrX:38403712

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068502421

1 SubmittersRCV001089860

NM_000531.6(OTC):c.584G>C (p.Gly195Ala)

SNV
Germline

ChrX:38403661

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068501410

1 SubmittersRCV001089861

NM_000531.6(OTC):c.488T>G (p.Leu163Arg)

SNV
Germline

ChrX:38401376

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068486155

1 SubmittersRCV001089862

NM_000531.6(OTC):c.473C>T (p.Pro158Leu)

SNV
Germline

ChrX:38401361

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068485732

1 SubmittersRCV001089866

NM_000531.6(OTC):c.298G>T (p.Gly100Cys)

SNV
Germline

ChrX:38369877

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068315546

1 SubmittersRCV001089867

NM_000531.6(OTC):c.214G>A (p.Glu72Lys)

SNV
Germline

ChrX:38367427

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068302412

1 SubmittersRCV001089868

NM_000531.6(OTC):c.77+5G>C

SNV
Germline

ChrX:38352778

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72552302

2 SubmittersRCV001089869

NM_000531.6(OTC):c.766G>T (p.Gly256Ter)

SNV
Germline

ChrX:38408924

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068529566

1 SubmittersRCV001089870

NM_000531.6(OTC):c.327T>A (p.Cys109Ter)

SNV
Germline

ChrX:38381370

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068375565

1 SubmittersRCV001089871

NM_000531.6(OTC):c.740C>G (p.Thr247Arg)

SNV
Germline

ChrX:38408898

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_72558437

1 SubmittersRCV001089873

NM_000531.6(OTC):c.944T>C (p.Val315Ala)

SNV
Germline

ChrX:38411938

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_67414444

1 SubmittersRCV001089874

NM_000531.6(OTC):c.946T>G (p.Phe316Val)

SNV
Germline

ChrX:38411940

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068545602

1 SubmittersRCV001089875

NM_000531.6(OTC):c.1015G>A (p.Val339Met)

SNV
Germline

ChrX:38421032

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_72558488

1 SubmittersRCV001089877

NM_000531.6(OTC):c.896C>T (p.Thr299Ile)

SNV
Germline

ChrX:38411890

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

rs_756772340

4 SubmittersRCV001167558

NM_000531.6(OTC):c.116G>C (p.Gly39Ala)

SNV
Germline

ChrX:38367329

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_1602014500

1 SubmittersRCV001170078

NM_000531.6(OTC):c.217-2A>G

SNV
Germline

ChrX:38369794

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068314699

1 SubmittersRCV001170079

NM_000531.6(OTC):c.128T>C (p.Leu43Pro)

SNV
Germline

ChrX:38367341

Pathogenic

Ornithine carbamoyltransferase deficiency

No Assertion Criteria Provided

rs_2068301622

1 SubmittersRCV001201344

NM_000531.6(OTC):c.604C>G (p.His202Asp)

SNV
Germline

ChrX:38403681

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72558408

1 SubmittersRCV001221148

NM_000531.6(OTC):c.959G>C (p.Arg320Pro)

SNV
Germline

ChrX:38411953

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72558474

2 SubmittersRCV001203914

NM_000531.6(OTC):c.286T>C (p.Ser96Pro)

SNV
Germline

ChrX:38369865

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

rs_184053962

2 SubmittersRCV001233433

NM_000531.6(OTC):c.626C>A (p.Ala209Glu)

SNV
Germline

ChrX:38403703

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72558417

1 SubmittersRCV001227742

NM_000531.6(OTC):c.403G>C (p.Ala135Pro)

SNV
Germline

ChrX:38401291

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_770910923

1 SubmittersRCV001240472

NM_000531.6(OTC):c.617T>A (p.Met206Lys)

SNV
Germline

ChrX:38403694

Likely pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_72558412

2 SubmittersRCV001244170 RCV001566704

NM_000531.6(OTC):c.85C>G (p.Gln29Glu)

SNV
Germline

ChrX:38367298

Conflicting classifications of pathogenicity

not specified
Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752916728

4 SubmittersRCV001249000 RCV001511499 RCV002447234

NM_000531.6(OTC):c.588T>A (p.Asp196Glu)

SNV
Germline

ChrX:38403665

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068501518

1 SubmittersRCV001295432

NM_000531.6(OTC):c.731T>C (p.Leu244Pro)

SNV
Unknown

ChrX:38408889

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72558436

1 SubmittersRCV001329969

NM_000531.6(OTC):c.629A>C (p.Lys210Thr)

SNV
Germline

ChrX:38403706

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068502349

1 SubmittersRCV001337278

NM_000531.6(OTC):c.488T>A (p.Leu163Gln)

SNV
Germline

ChrX:38401376

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068486155

1 SubmittersRCV001375871

NM_000531.6(OTC):c.505C>T (p.Pro169Ser)

SNV
Germline

ChrX:38401393

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72556277

1 SubmittersRCV001378099

NM_000531.6(OTC):c.535C>G (p.Leu179Val)

SNV
Germline

ChrX:38401423

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068487136

1 SubmittersRCV001379672

NM_000531.6(OTC):c.674C>A (p.Pro225Gln)

SNV
Germline

ChrX:38408752

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_67120076

1 SubmittersRCV001378599

NM_000531.6(OTC):c.429T>A (p.Tyr143Ter)

SNV
Germline

ChrX:38401317

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_145777402

1 SubmittersRCV001385350

NM_000531.6(OTC):c.717+5G>A

SNV
Germline

ChrX:38408800

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_747637190

2 SubmittersRCV001431007 RCV002377693

NM_000531.6(OTC):c.618G>A (p.Met206Ile)

SNV
Germline

ChrX:38403695

Pathogenic/Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_72558413

2 SubmittersRCV001724781

NM_000531.6(OTC):c.241T>C (p.Ser81Pro)

SNV
Germline

ChrX:38369820

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2147324956

2 SubmittersRCV002028760 RCV004774604

NM_000531.6(OTC):c.419C>T (p.Ala140Val)

SNV
Germline

ChrX:38401307

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_2147341270

2 SubmittersRCV001977988 RCV004690210

NM_000531.6(OTC):c.89C>A (p.Pro30Gln)

SNV
Germline

ChrX:38367302

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_753712951

2 SubmittersRCV001966154 RCV003355712

NM_000531.6(OTC):c.485G>C (p.Gly162Ala)

SNV
Germline

ChrX:38401373

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
OTC-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_72556272

4 SubmittersRCV001951887 RCV004731199 RCV004801091

NM_000531.6(OTC):c.562G>A (p.Gly188Ser)

SNV
Germline

ChrX:38403639

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72556294

1 SubmittersRCV002008441

NM_000531.6(OTC):c.904C>G (p.His302Asp)

SNV
Germline

ChrX:38411898

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72558463

1 SubmittersRCV002045039

NM_000531.6(OTC):c.722G>A (p.Gly241Asp)

SNV
Germline

ChrX:38408880

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1461226043

3 SubmittersRCV001928943 RCV004656745

NM_000531.6(OTC):c.614T>C (p.Met205Thr)

SNV
Germline

ChrX:38403691

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2068501940

1 SubmittersRCV001866601

NM_000531.6(OTC):c.395C>A (p.Ser132Tyr)

SNV
Germline

ChrX:38401283

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_72556254

1 SubmittersRCV001942062

NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)

SNV
Germline

ChrX:38421080

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

rs_2147349974

2 SubmittersRCV001963887

NM_000531.6(OTC):c.478A>T (p.Ile160Phe)

SNV
Germline

ChrX:38401366

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2147341364

1 SubmittersRCV002030590

NM_000531.6(OTC):c.78-1G>T

SNV
Germline

ChrX:38367290

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_281865554

1 SubmittersRCV001994992

NM_000531.6(OTC):c.579G>T (p.Trp193Cys)

SNV
Germline

ChrX:38403656

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2147342649

1 SubmittersRCV001916012

NM_000531.6(OTC):c.540+1G>A

SNV
Germline

ChrX:38401429

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_72556288

2 SubmittersRCV001956543

NM_000531.6(OTC):c.758C>A (p.Ala253Glu)

SNV
Germline

ChrX:38408916

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2147345110

1 SubmittersRCV001986043

NM_000531.6(OTC):c.539A>C (p.Gln180Pro)

SNV
Germline

ChrX:38401427

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2147341500

1 SubmittersRCV002045240

NM_000531.6(OTC):c.299-2A>G

SNV
Germline

ChrX:38381340

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_2147330536

1 SubmittersRCV002038550

NM_000531.6(OTC):c.380C>T (p.Thr127Met)

SNV
Germline

ChrX:38381423

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_762910963

2 SubmittersRCV002075289 RCV002282687

NM_000531.6(OTC):c.449C>A (p.Thr150Asn)

SNV
Germline

ChrX:38401337

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

rs_766735977

2 SubmittersRCV002111062

NM_000531.6(OTC):c.736C>G (p.Leu246Val)

SNV
Germline

ChrX:38408894

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

rs_1168053730

2 SubmittersRCV002120626

NM_000531.6(OTC):c.77G>T (p.Arg26Leu)

SNV
Germline

ChrX:38352773

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

rs_68031618

1 SubmittersRCV002249117

NM_000531.6(OTC):c.867G>A (p.Lys289=)

SNV
Germline

ChrX:38409025

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

rs_72558456

2 SubmittersRCV002250167

NM_000531.6(OTC):c.179C>A (p.Ser60Ter)

SNV
Unknown

ChrX:38367392

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002309665

NM_000531.6(OTC):c.826A>T (p.Lys276Ter)

SNV
Unknown

ChrX:38408984

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002309708

NM_000531.6(OTC):c.262A>T (p.Lys88Ter)

SNV
Unknown

ChrX:38369841

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002307193

NM_000531.6(OTC):c.208A>T (p.Lys70Ter)

SNV
Unknown

ChrX:38367421

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002307237

NM_000531.6(OTC):c.814G>T (p.Glu272Ter)

SNV
Unknown

ChrX:38408972

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002310253

NM_000531.6(OTC):c.663G>T (p.Lys221Asn)

SNV
Germline

ChrX:38403740

Pathogenic/Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002469986

NM_000531.6(OTC):c.1039C>T (p.Pro347Ser)

SNV
Germline

ChrX:38421056

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041439

NM_000531.6(OTC):c.628A>G (p.Lys210Glu)

SNV
Germline

ChrX:38403705

Likely pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510348 RCV004798004

NM_000531.6(OTC):c.376G>A (p.Asp126Asn)

SNV
Germline

ChrX:38381419

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002736053

NM_000531.6(OTC):c.448A>T (p.Thr150Ser)

SNV
Germline

ChrX:38401336

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002828383

NM_000531.6(OTC):c.803T>A (p.Met268Lys)

SNV
Germline

ChrX:38408961

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002894285

NM_000531.6(OTC):c.929A>T (p.Glu310Val)

SNV
Germline

ChrX:38411923

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002881931

NM_000531.6(OTC):c.622G>T (p.Ala208Ser)

SNV
Germline

ChrX:38403699

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003009009 RCV004526215 RCV004774772

NM_000531.6(OTC):c.10A>G (p.Asn4Asp)

SNV
Germline

ChrX:38352706

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003018428

NM_000531.6(OTC):c.350A>C (p.His117Pro)

SNV
Germline

ChrX:38381393

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003022883

NM_000531.6(OTC):c.629A>T (p.Lys210Ile)

SNV
Germline

ChrX:38403706

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003014684

NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)

SNV
Germline

ChrX:38421051

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003020379

NM_000531.6(OTC):c.134T>G (p.Leu45Arg)

SNV
Germline

ChrX:38367347

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003040285

NM_000531.6(OTC):c.853C>T (p.Gln285Ter)

SNV
Germline

ChrX:38409011

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003317773

NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)

SNV
Unknown

ChrX:38401411

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003333373

NM_000531.6(OTC):c.78-2A>G

SNV
Unknown

ChrX:38367289

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003333624

NM_000531.6(OTC):c.607T>C (p.Ser203Pro)

SNV
Germline

ChrX:38403684

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003335858

NM_000531.6(OTC):c.437C>A (p.Ser146Ter)

SNV
Germline

ChrX:38401325

Pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003335973

NM_000531.6(OTC):c.618G>T (p.Met206Ile)

SNV
Germline

ChrX:38403695

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003387702 RCV004587487

NM_000531.6(OTC):c.717G>T (p.Glu239Asp)

SNV
Germline

ChrX:38408795

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003447661

NM_000531.6(OTC):c.563G>C (p.Gly188Ala)

SNV
Germline

ChrX:38403640

Likely pathogenic

Ornithine carbamoyltransferase deficiency
OTC-related disorder

Criteria Provided
Single Submitter

2 SubmittersRCV003471646 RCV004731536

NM_000531.6(OTC):c.298+2T>C

SNV
Germline

ChrX:38369879

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003471647 RCV004661662

NM_000531.6(OTC):c.1006-2A>G

SNV
Unknown

ChrX:38421021

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003476582

NM_000531.6(OTC):c.477T>G (p.Ile159Met)

SNV
Unknown

ChrX:38401365

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003455845

NM_000531.6(OTC):c.119G>T (p.Arg40Leu)

SNV
Germline

ChrX:38367332

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003509053

NM_000531.6(OTC):c.943G>A (p.Val315Ile)

SNV
Germline

ChrX:38411937

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003621784

NM_000531.6(OTC):c.480C>G (p.Ile160Met)

SNV
Germline

ChrX:38401368

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003622969

NM_000531.6(OTC):c.804G>C (p.Met268Ile)

SNV
Germline

ChrX:38408962

Likely pathogenic

Ornithine carbamoyltransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003831035 RCV004767488

NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)

SNV
Germline

ChrX:38421044

Conflicting classifications of pathogenicity

Ornithine carbamoyltransferase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003873155

NM_000531.6(OTC):c.502C>T (p.His168Tyr)

SNV
Germline

ChrX:38401390

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003985958

NM_000531.6(OTC):c.116G>T (p.Gly39Val)

SNV
Germline

ChrX:38367329

Likely pathogenic

Ornithine carbamoyltransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004566520