Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000274.4(OAT):c.3G>A (p.Met1Ile)	SNV Germline	Chr10:124412169	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113913	rs_121965034	3 SubmittersRCV000000169
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)	SNV Germline	Chr10:124398076	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA113920	rs_121965036	6 SubmittersRCV000000172 RCV000760452 RCV004814786
NM_000274.4(OAT):c.163T>C (p.Tyr55His)	SNV Germline	Chr10:124412009	Pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA113924	rs_121965037	1 SubmittersRCV000000173
NM_000274.4(OAT):c.278G>T (p.Cys93Phe)	SNV Germline	Chr10:124408887	Pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA113926	rs_121965038	1 SubmittersRCV000000174
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)	SNV Germline	Chr10:124408601	Likely pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA113928	rs_121965039	4 SubmittersRCV000000175 RCV001824555
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)	SNV Germline	Chr10:124405545	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113931	rs_121965040	3 SubmittersRCV000000176
NM_000274.4(OAT):c.808G>C (p.Ala270Pro)	SNV Germline	Chr10:124403019	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA113934	rs_121965041	2 SubmittersRCV000000177
NM_000274.4(OAT):c.812G>A (p.Arg271Lys)	SNV Germline	Chr10:124403015	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113937	rs_121965042	4 SubmittersRCV000000178
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)	SNV Germline	Chr10:124398057	Pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA113940	rs_121965043	4 SubmittersRCV000000179 RCV002509140
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	SNV Germline	Chr10:124398012	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113943	rs_121965044	9 SubmittersRCV000000180
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)	SNV Germline	Chr10:124400875	Likely pathogenic	Ornithine aminotransferase deficiency Retinal dystrophy Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA113949	rs_121965045	4 SubmittersRCV000000182 RCV001073881 RCV005887118
NM_000274.4(OAT):c.734A>G (p.Tyr245Cys)	SNV Germline	Chr10:124403835	Pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA113952	rs_121965046	1 SubmittersRCV000000183
NM_000274.4(OAT):c.994G>A (p.Val332Met)	SNV Germline	Chr10:124401746	Pathogenic/Likely pathogenic	Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113959	rs_121965047	5 SubmittersRCV000000185 RCV000049551
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)	SNV Germline	Chr10:124412010	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency not specified	Criteria Provided Conflicting Classifications	CA113962	rs_121965048	4 SubmittersRCV000000186 RCV005430909
NM_000274.4(OAT):c.955C>T (p.His319Tyr)	SNV Germline	Chr10:124401785	Pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA113964	rs_121965049	1 SubmittersRCV000000187
NM_000274.4(OAT):c.550G>A (p.Ala184Thr)	SNV Germline	Chr10:124405534	Pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA113971	rs_121965050	1 SubmittersRCV000000190
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	SNV Germline	Chr10:124403847	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA113975	rs_121965051	7 SubmittersRCV000000191 RCV003234882
NM_000274.4(OAT):c.749G>C (p.Arg250Pro)	SNV Germline	Chr10:124403820	Pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA113978	rs_121965052	1 SubmittersRCV000000192
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)	SNV Germline	Chr10:124400941	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA113981	rs_121965053	6 SubmittersRCV000000193 RCV001091422
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter)	SNV Germline	Chr10:124398090	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA113984	rs_386833596	2 SubmittersRCV000000194
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter)	SNV Germline	Chr10:124398061	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113990	rs_121965055	3 SubmittersRCV000000196
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)	SNV Germline	Chr10:124405457	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA113994	rs_121965056	7 SubmittersRCV000000198
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)	SNV Germline	Chr10:124402930	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA113998	rs_121965057	9 SubmittersRCV000000199 RCV001074426 RCV003237409
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)	SNV Germline	Chr10:124397986	Pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA114002	rs_121965058	6 SubmittersRCV000000200 RCV002271362
NM_000274.4(OAT):c.533G>A (p.Trp178Ter)	SNV Germline	Chr10:124405551	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA114006	rs_267606923	2 SubmittersRCV000000202
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	SNV Germline	Chr10:124403003	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA114010	rs_267606924	4 SubmittersRCV000000203
NM_000274.4(OAT):c.677C>T (p.Ala226Val)	SNV Germline	Chr10:124403892	Pathogenic/Likely pathogenic	Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA114014	rs_121965059	5 SubmittersRCV000000204 RCV001208929 RCV004689396
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	SNV Germline	Chr10:124405488	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA114019	rs_267606925	4 SubmittersRCV000000206
NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)	SNV Germline	Chr10:124398081	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA144137	rs_386833597	3 SubmittersRCV000049523
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)	SNV Germline	Chr10:124397955	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA144139	rs_386833598	4 SubmittersRCV000049524 RCV003317066
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)	SNV Germline	Chr10:124397951	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency Condition: not provided Ovarian serous cystadenocarcinoma Lung cancer not specified	Criteria Provided Conflicting Classifications	CA144141	rs_1800456	7 SubmittersRCV000049525 RCV000513174 RCV005890358 RCV005890359 RCV005055552
NM_000274.4(OAT):c.199+303C>G	SNV Germline	Chr10:124411670	Likely pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Single Submitter	CA144142	rs_386833601	3 SubmittersRCV000049528 RCV005406791
NM_000274.4(OAT):c.267C>A (p.Asn89Lys)	SNV Unknown	Chr10:124408898	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA144143	rs_386833602	1 SubmittersRCV000049529
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)	SNV Germline	Chr10:124408893	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency not specified OAT-related disorder	Criteria Provided Conflicting Classifications	CA144145	rs_386833603	5 SubmittersRCV000049530 RCV003330418 RCV003905013
NM_000274.4(OAT):c.311A>G (p.Gln104Arg)	SNV Unknown	Chr10:124408854	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA144148	rs_386833604	1 SubmittersRCV000049531
NM_000274.4(OAT):c.362G>A (p.Gly121Asp)	SNV Unknown	Chr10:124408803	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA144150	rs_386833605	1 SubmittersRCV000049532
NM_000274.4(OAT):c.425-2A>G	SNV Germline	Chr10:124408639	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA144157	rs_386833608	2 SubmittersRCV000049535
NM_000274.4(OAT):c.425G>A (p.Gly142Glu)	SNV Unknown	Chr10:124408637	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA144158	rs_386833610	1 SubmittersRCV000049537
NM_000274.4(OAT):c.542C>T (p.Thr181Met)	SNV Germline	Chr10:124405542	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA144165	rs_386833613	3 SubmittersRCV000049540
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)	SNV Germline	Chr10:124405501	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Conflicting Classifications	CA144168	rs_386833614	3 SubmittersRCV000049541 RCV005237487
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)	SNV Germline	Chr10:124403871	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA144171	rs_386833615	5 SubmittersRCV000049542
NM_000274.4(OAT):c.710G>A (p.Gly237Asp)	SNV Germline	Chr10:124403859	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA144174	rs_386833616	3 SubmittersRCV000049543
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)	SNV Germline	Chr10:124403821	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA144177	rs_386833617	3 SubmittersRCV000049544
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)	SNV Germline	Chr10:124403027	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA144180	rs_386833618	7 SubmittersRCV000049545
NM_000274.4(OAT):c.901-2A>G	SNV Unknown	Chr10:124401841	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA144182	rs_386833619	1 SubmittersRCV000049546
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)	SNV Germline	Chr10:124401788	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA144183	rs_386833621	5 SubmittersRCV000049547
NM_000274.4(OAT):c.978T>A (p.Asn326Lys)	SNV Unknown	Chr10:124401762	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA144186	rs_386833622	1 SubmittersRCV000049549
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	SNV Germline	Chr10:124401749	Pathogenic	Ornithine aminotransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA144189	rs_386833623	7 SubmittersRCV000049550 RCV002251431
NM_000274.4(OAT):c.1224T>C (p.His408=)	SNV Germline	Chr10:124398038	Conflicting classifications of pathogenicity	Condition: not provided Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA239102	rs_201864147	4 SubmittersRCV000173664 RCV000266334
NM_000274.4(OAT):c.969C>T (p.Tyr323=)	SNV Germline	Chr10:124401771	Conflicting classifications of pathogenicity	Condition: not provided Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA247507	rs_138895801	5 SubmittersRCV000180123 RCV001083247
NM_000274.4(OAT):c.639C>T (p.Pro213=)	SNV Germline	Chr10:124405445	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA5733481	rs_773314783	2 SubmittersRCV000385085
NM_000274.4(OAT):c.1160-13T>A	SNV Germline	Chr10:124398115	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA5733305	rs_372850085	2 SubmittersRCV000323800
NM_000274.4(OAT):c.123T>C (p.Asp41=)	SNV Germline	Chr10:124412049	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency OAT-related disorder	Criteria Provided Conflicting Classifications	CA10635186	rs_376051303	3 SubmittersRCV000315463 RCV003930250
NM_000274.4(OAT):c.875A>G (p.Lys292Arg)	SNV Unknown	Chr10:124402952	Likely pathogenic	Optic atrophy Abnormal choroid morphology Visual field defect Pain Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA16043446	rs_1057518927	1 SubmittersRCV000415047 RCV001198514
NM_014989.7(RIMS1):c.3194+1G>A	SNV Germline	Chr6:72265053	Conflicting classifications of pathogenicity	Condition: not provided Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA16043853	rs_1057519205	3 SubmittersRCV000415728 RCV001199743
NM_000274.4(OAT):c.772-1G>A	SNV Germline	Chr10:124403056	Pathogenic/Likely pathogenic	Condition: not provided Ornithine aminotransferase deficiency Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA5733417	rs_770390524	6 SubmittersRCV000513591 RCV000995825 RCV004817743
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)	SNV Germline	Chr10:124398070	Pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA5733296	rs_200068769	5 SubmittersRCV000542545 RCV002298643
NM_000274.4(OAT):c.314T>C (p.Val105Ala)	SNV Germline	Chr10:124408851	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5733560	rs_199957428	4 SubmittersRCV001106378 RCV003362825
NM_000274.4(OAT):c.736C>T (p.Leu246=)	SNV Germline	Chr10:124403833	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA5733452	rs_146882296	3 SubmittersRCV001103332
NM_000274.4(OAT):c.48C>T (p.Arg16=)	SNV Germline	Chr10:124412124	Conflicting classifications of pathogenicity	Condition: not provided Ornithine aminotransferase deficiency OAT-related disorder	Criteria Provided Conflicting Classifications	CA5733623	rs_143526711	5 SubmittersRCV000733681 RCV001106381 RCV003938124
NM_000274.4(OAT):c.899C>T (p.Pro300Leu)	SNV Germline	Chr10:124402928	Pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA378635040	rs_759979499	1 SubmittersRCV000735677
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)	SNV Germline	Chr10:124412065	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency Inborn genetic diseases OAT-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5733611	rs_140786333	6 SubmittersRCV001106380 RCV002539165 RCV004756058 RCV004761843
NM_000274.4(OAT):c.1015-6A>G	SNV Germline	Chr10:124400990	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency Condition: not provided Uterine corpus endometrial carcinoma Lung cancer Sarcoma	Criteria Provided Conflicting Classifications	CA5733343	rs_561800688	5 SubmittersRCV001103331 RCV003480887 RCV005907097 RCV005907096 RCV005907095
NM_000274.4(OAT):c.900+1G>A	SNV Germline	Chr10:124402926	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635038	rs_1589700702	3 SubmittersRCV001003104
NM_000274.4(OAT):c.980C>G (p.Pro327Arg)	SNV Germline	Chr10:124401760	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided	CA378633954	rs_1589698958	1 SubmittersRCV001029755
NM_000274.4(OAT):c.1014+1G>A	SNV Germline	Chr10:124401725	Likely pathogenic	Retinal dystrophy Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA378633838	rs_1951414426	4 SubmittersRCV001074447 RCV001862828
NM_000274.4(OAT):c.1245G>A (p.Ala415=)	SNV Germline	Chr10:124398017	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA5733285	rs_751449034	2 SubmittersRCV001103329
NM_000274.4(OAT):c.478G>A (p.Val160Met)	SNV Germline	Chr10:124408584	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5733524	rs_148433929	5 SubmittersRCV001105247 RCV004032108
NM_000274.4(OAT):c.477C>T (p.Thr159=)	SNV Germline	Chr10:124408585	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA5733525	rs_575839041	2 SubmittersRCV001106377
NM_000274.4(OAT):c.534G>A (p.Trp178Ter)	SNV Germline	Chr10:124405550	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA215250677	rs_890106099	1 SubmittersRCV001203269
NM_000274.4(OAT):c.648+1G>A	SNV Germline	Chr10:124405435	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA378636072	rs_1951546023	2 SubmittersRCV001212701
NM_000274.4(OAT):c.461G>A (p.Arg154His)	SNV Germline	Chr10:124408601	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency	Criteria Provided Conflicting Classifications	CA5733526	rs_121965039	3 SubmittersRCV001317107
NM_000274.4(OAT):c.416T>G (p.Met139Arg)	SNV Germline	Chr10:124408749	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA215254025	rs_1043163922	4 SubmittersRCV001327620 RCV004762090
NM_000274.4(OAT):c.901-1G>A	SNV Germline	Chr10:124401840	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378634350	rs_1951420329	1 SubmittersRCV001377882
NM_000274.4(OAT):c.520+1G>T	SNV Germline	Chr10:124408541	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378636876	rs_2134476814	1 SubmittersRCV001379927
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter)	SNV Germline	Chr10:124400849	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378633518	rs_1285313333	1 SubmittersRCV001389086
NM_000274.4(OAT):c.1A>G (p.Met1Val)	SNV Germline	Chr10:124412171	Pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA378638384	rs_1283361732	2 SubmittersRCV001385599 RCV005057358
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser)	SNV Germline	Chr10:124398013	Conflicting classifications of pathogenicity	Ornithine aminotransferase deficiency OAT-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5733284	rs_763915205	4 SubmittersRCV001990500 RCV003401984 RCV005253989
NM_000274.4(OAT):c.649-1G>C	SNV Germline	Chr10:124403921	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635946	rs_551144161	1 SubmittersRCV001966080
NM_000274.4(OAT):c.772-1G>T	SNV Germline	Chr10:124403056	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635679	rs_770390524	1 SubmittersRCV002000369
NM_000274.4(OAT):c.881T>A (p.Leu294His)	SNV Germline	Chr10:124402946	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA5733404	rs_752974288	1 SubmittersRCV001893527
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)	SNV Germline	Chr10:124403031	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA378635591	rs_1951458291	2 SubmittersRCV002037794
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter)	SNV Germline	Chr10:124398099	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378633273	rs_2134440659	1 SubmittersRCV001943000
NM_000274.4(OAT):c.1159+1G>A	SNV Germline	Chr10:124400839	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378633495	rs_2134450136	1 SubmittersRCV001885922
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)	SNV Germline	Chr10:124412020	Pathogenic/Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA5733602	rs_11553554	2 SubmittersRCV003062303
NM_000274.4(OAT):c.473A>C (p.Tyr158Ser)	SNV Germline	Chr10:124408589	Likely pathogenic	Ornithine aminotransferase deficiency Hyperornithinemia	Criteria Provided Multiple Submitters No Conflicts	CA378636982	rs_2494500513	2 SubmittersRCV003079116 RCV005406579
NM_000274.4(OAT):c.697C>T (p.Gln233Ter)	SNV Germline	Chr10:124403872	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635839	rs_780716161	1 SubmittersRCV002621041
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)	SNV Germline	Chr10:124408564	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378636924	rs_1270151043	1 SubmittersRCV002686238
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)	SNV Germline	Chr10:124398098	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378633271	rs_2494428598	1 SubmittersRCV002985439
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)	SNV Germline	Chr10:124408594	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378636993	rs_2494500603	1 SubmittersRCV003016614
NM_000274.4(OAT):c.759C>A (p.Cys253Ter)	SNV Unknown	Chr10:124403810	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635718	rs_2494464815	1 SubmittersRCV003471620
NM_000274.4(OAT):c.1160-1G>C	SNV Unknown	Chr10:124398103	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378633282	rs_2494428671	1 SubmittersRCV003471621
NM_000274.4(OAT):c.900+1G>C	SNV Unknown	Chr10:124402926	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635037	rs_1589700702	1 SubmittersRCV003463214
NM_000274.4(OAT):c.969C>G (p.Tyr323Ter)	SNV Unknown	Chr10:124401771	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378633991	rs_138895801	1 SubmittersRCV003471624
NM_000274.4(OAT):c.582C>G (p.Tyr194Ter)	SNV Unknown	Chr10:124405502	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378636457	rs_754489812	1 SubmittersRCV003471625
NM_000274.4(OAT):c.49G>T (p.Gly17Ter)	SNV Unknown	Chr10:124412123	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378638281	rs_760716065	1 SubmittersRCV003463217
NM_000274.4(OAT):c.771+2T>C	SNV Germline	Chr10:124403796	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635686	rs_2494464646	1 SubmittersRCV003598299
NM_000274.4(OAT):c.424+1G>A	SNV Germline	Chr10:124408740	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378637094	rs_2494502096	1 SubmittersRCV003599615
NM_000274.4(OAT):c.889G>T (p.Gly297Cys)	SNV Germline	Chr10:124402938	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635106	rs_2494457225	1 SubmittersRCV003988684
NM_000274.4(OAT):c.742G>T (p.Gly248Ter)	SNV Germline	Chr10:124403827	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter	CA378635749	rs_2494465030	1 SubmittersRCV004018212
NM_000274.4(OAT):c.627T>G (p.Tyr209Ter)	SNV Unknown	Chr10:124405457	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter		rs_121965056	1 SubmittersRCV004574407
NM_000274.4(OAT):c.450T>A (p.Cys150Ter)	SNV Unknown	Chr10:124408612	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter		rs_1273610101	1 SubmittersRCV004574409
NM_000274.4(OAT):c.648+2T>C	SNV Germline	Chr10:124405434	Pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004699070
NM_000274.4(OAT):c.1264G>T (p.Glu422Ter)	SNV Germline	Chr10:124397998	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005043017
NM_000274.4(OAT):c.1159+2T>A	SNV Germline	Chr10:124400838	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005032986
NM_000274.4(OAT):c.520+1G>A	SNV Germline	Chr10:124408541	Likely pathogenic	Ornithine aminotransferase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005043048 RCV006605424
NM_000274.4(OAT):c.1235T>C (p.Ile412Thr)	SNV Germline	Chr10:124398027	Likely pathogenic	Ornithine aminotransferase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005609477
NM_000274.4(OAT):c.772-1G>C	SNV Germline	Chr10:124403056	Likely pathogenic	Ornithine aminotransferase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006507126

NM_000274.4(OAT):c.3G>A (p.Met1Ile)

SNV
Germline

Chr10:124412169

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113913

rs_121965034

3 SubmittersRCV000000169

NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)

SNV
Germline

Chr10:124398076

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA113920

rs_121965036

6 SubmittersRCV000000172 RCV000760452 RCV004814786

NM_000274.4(OAT):c.163T>C (p.Tyr55His)

SNV
Germline

Chr10:124412009

Pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA113924

rs_121965037

1 SubmittersRCV000000173

NM_000274.4(OAT):c.278G>T (p.Cys93Phe)

SNV
Germline

Chr10:124408887

Pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA113926

rs_121965038

1 SubmittersRCV000000174

NM_000274.4(OAT):c.461G>T (p.Arg154Leu)

SNV
Germline

Chr10:124408601

Likely pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA113928

rs_121965039

4 SubmittersRCV000000175 RCV001824555

NM_000274.4(OAT):c.539G>C (p.Arg180Thr)

SNV
Germline

Chr10:124405545

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113931

rs_121965040

3 SubmittersRCV000000176

NM_000274.4(OAT):c.808G>C (p.Ala270Pro)

SNV
Germline

Chr10:124403019

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA113934

rs_121965041

2 SubmittersRCV000000177

NM_000274.4(OAT):c.812G>A (p.Arg271Lys)

SNV
Germline

Chr10:124403015

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113937

rs_121965042

4 SubmittersRCV000000178

NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)

SNV
Germline

Chr10:124398057

Pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA113940

rs_121965043

4 SubmittersRCV000000179 RCV002509140

NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)

SNV
Germline

Chr10:124398012

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113943

rs_121965044

9 SubmittersRCV000000180

NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)

SNV
Germline

Chr10:124400875

Likely pathogenic

Ornithine aminotransferase deficiency
Retinal dystrophy
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA113949

rs_121965045

4 SubmittersRCV000000182 RCV001073881 RCV005887118

NM_000274.4(OAT):c.734A>G (p.Tyr245Cys)

SNV
Germline

Chr10:124403835

Pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA113952

rs_121965046

1 SubmittersRCV000000183

NM_000274.4(OAT):c.994G>A (p.Val332Met)

SNV
Germline

Chr10:124401746

Pathogenic/Likely pathogenic

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113959

rs_121965047

5 SubmittersRCV000000185 RCV000049551

NM_000274.4(OAT):c.162C>A (p.Asn54Lys)

SNV
Germline

Chr10:124412010

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA113962

rs_121965048

4 SubmittersRCV000000186 RCV005430909

NM_000274.4(OAT):c.955C>T (p.His319Tyr)

SNV
Germline

Chr10:124401785

Pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA113964

rs_121965049

1 SubmittersRCV000000187

NM_000274.4(OAT):c.550G>A (p.Ala184Thr)

SNV
Germline

Chr10:124405534

Pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA113971

rs_121965050

1 SubmittersRCV000000190

NM_000274.4(OAT):c.722C>T (p.Pro241Leu)

SNV
Germline

Chr10:124403847

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA113975

rs_121965051

7 SubmittersRCV000000191 RCV003234882

NM_000274.4(OAT):c.749G>C (p.Arg250Pro)

SNV
Germline

Chr10:124403820

Pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA113978

rs_121965052

1 SubmittersRCV000000192

NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)

SNV
Germline

Chr10:124400941

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA113981

rs_121965053

6 SubmittersRCV000000193 RCV001091422

NM_000274.4(OAT):c.1172G>A (p.Trp391Ter)

SNV
Germline

Chr10:124398090

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA113984

rs_386833596

2 SubmittersRCV000000194

NM_000274.4(OAT):c.1201G>T (p.Gly401Ter)

SNV
Germline

Chr10:124398061

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113990

rs_121965055

3 SubmittersRCV000000196

NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)

SNV
Germline

Chr10:124405457

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA113994

rs_121965056

7 SubmittersRCV000000198

NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)

SNV
Germline

Chr10:124402930

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA113998

rs_121965057

9 SubmittersRCV000000199 RCV001074426 RCV003237409

NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)

SNV
Germline

Chr10:124397986

Pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA114002

rs_121965058

6 SubmittersRCV000000200 RCV002271362

NM_000274.4(OAT):c.533G>A (p.Trp178Ter)

SNV
Germline

Chr10:124405551

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA114006

rs_267606923

2 SubmittersRCV000000202

NM_000274.4(OAT):c.824G>A (p.Trp275Ter)

SNV
Germline

Chr10:124403003

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA114010

rs_267606924

4 SubmittersRCV000000203

NM_000274.4(OAT):c.677C>T (p.Ala226Val)

SNV
Germline

Chr10:124403892

Pathogenic/Likely pathogenic

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA114014

rs_121965059

5 SubmittersRCV000000204 RCV001208929 RCV004689396

NM_000274.4(OAT):c.596C>A (p.Pro199Gln)

SNV
Germline

Chr10:124405488

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA114019

rs_267606925

4 SubmittersRCV000000206

NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)

SNV
Germline

Chr10:124398081

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA144137

rs_386833597

3 SubmittersRCV000049523

NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)

SNV
Germline

Chr10:124397955

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA144139

rs_386833598

4 SubmittersRCV000049524 RCV003317066

NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)

SNV
Germline

Chr10:124397951

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
Condition: not provided
Ovarian serous cystadenocarcinoma
Lung cancer
not specified

Criteria Provided
Conflicting Classifications

CA144141

rs_1800456

7 SubmittersRCV000049525 RCV000513174 RCV005890358 RCV005890359 RCV005055552

NM_000274.4(OAT):c.199+303C>G

SNV
Germline

Chr10:124411670

Likely pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Single Submitter

CA144142

rs_386833601

3 SubmittersRCV000049528 RCV005406791

NM_000274.4(OAT):c.267C>A (p.Asn89Lys)

SNV
Unknown

Chr10:124408898

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA144143

rs_386833602

1 SubmittersRCV000049529

NM_000274.4(OAT):c.272G>A (p.Gly91Glu)

SNV
Germline

Chr10:124408893

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
not specified
OAT-related disorder

Criteria Provided
Conflicting Classifications

CA144145

rs_386833603

5 SubmittersRCV000049530 RCV003330418 RCV003905013

NM_000274.4(OAT):c.311A>G (p.Gln104Arg)

SNV
Unknown

Chr10:124408854

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA144148

rs_386833604

1 SubmittersRCV000049531

NM_000274.4(OAT):c.362G>A (p.Gly121Asp)

SNV
Unknown

Chr10:124408803

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA144150

rs_386833605

1 SubmittersRCV000049532

NM_000274.4(OAT):c.425-2A>G

SNV
Germline

Chr10:124408639

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA144157

rs_386833608

2 SubmittersRCV000049535

NM_000274.4(OAT):c.425G>A (p.Gly142Glu)

SNV
Unknown

Chr10:124408637

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA144158

rs_386833610

1 SubmittersRCV000049537

NM_000274.4(OAT):c.542C>T (p.Thr181Met)

SNV
Germline

Chr10:124405542

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA144165

rs_386833613

3 SubmittersRCV000049540

NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)

SNV
Germline

Chr10:124405501

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Conflicting Classifications

CA144168

rs_386833614

3 SubmittersRCV000049541 RCV005237487

NM_000274.4(OAT):c.698A>G (p.Gln233Arg)

SNV
Germline

Chr10:124403871

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA144171

rs_386833615

5 SubmittersRCV000049542

NM_000274.4(OAT):c.710G>A (p.Gly237Asp)

SNV
Germline

Chr10:124403859

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA144174

rs_386833616

3 SubmittersRCV000049543

NM_000274.4(OAT):c.748C>T (p.Arg250Ter)

SNV
Germline

Chr10:124403821

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA144177

rs_386833617

3 SubmittersRCV000049544

NM_000274.4(OAT):c.800C>T (p.Thr267Ile)

SNV
Germline

Chr10:124403027

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA144180

rs_386833618

7 SubmittersRCV000049545

NM_000274.4(OAT):c.901-2A>G

SNV
Unknown

Chr10:124401841

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA144182

rs_386833619

1 SubmittersRCV000049546

NM_000274.4(OAT):c.952G>A (p.Glu318Lys)

SNV
Germline

Chr10:124401788

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA144183

rs_386833621

5 SubmittersRCV000049547

NM_000274.4(OAT):c.978T>A (p.Asn326Lys)

SNV
Unknown

Chr10:124401762

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA144186

rs_386833622

1 SubmittersRCV000049549

NM_000274.4(OAT):c.991C>T (p.Arg331Ter)

SNV
Germline

Chr10:124401749

Pathogenic

Ornithine aminotransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA144189

rs_386833623

7 SubmittersRCV000049550 RCV002251431

NM_000274.4(OAT):c.1224T>C (p.His408=)

SNV
Germline

Chr10:124398038

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA239102

rs_201864147

4 SubmittersRCV000173664 RCV000266334

NM_000274.4(OAT):c.969C>T (p.Tyr323=)

SNV
Germline

Chr10:124401771

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA247507

rs_138895801

5 SubmittersRCV000180123 RCV001083247

NM_000274.4(OAT):c.639C>T (p.Pro213=)

SNV
Germline

Chr10:124405445

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA5733481

rs_773314783

2 SubmittersRCV000385085

NM_000274.4(OAT):c.1160-13T>A

SNV
Germline

Chr10:124398115

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA5733305

rs_372850085

2 SubmittersRCV000323800

NM_000274.4(OAT):c.123T>C (p.Asp41=)

SNV
Germline

Chr10:124412049

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
OAT-related disorder

Criteria Provided
Conflicting Classifications

CA10635186

rs_376051303

3 SubmittersRCV000315463 RCV003930250

NM_000274.4(OAT):c.875A>G (p.Lys292Arg)

SNV
Unknown

Chr10:124402952

Likely pathogenic

Optic atrophy
Abnormal choroid morphology
Visual field defect
Pain
Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA16043446

rs_1057518927

1 SubmittersRCV000415047 RCV001198514

NM_014989.7(RIMS1):c.3194+1G>A

SNV
Germline

Chr6:72265053

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA16043853

rs_1057519205

3 SubmittersRCV000415728 RCV001199743

NM_000274.4(OAT):c.772-1G>A

SNV
Germline

Chr10:124403056

Pathogenic/Likely pathogenic

Condition: not provided
Ornithine aminotransferase deficiency
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5733417

rs_770390524

6 SubmittersRCV000513591 RCV000995825 RCV004817743

NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)

SNV
Germline

Chr10:124398070

Pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5733296

rs_200068769

5 SubmittersRCV000542545 RCV002298643

NM_000274.4(OAT):c.314T>C (p.Val105Ala)

SNV
Germline

Chr10:124408851

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5733560

rs_199957428

4 SubmittersRCV001106378 RCV003362825

NM_000274.4(OAT):c.736C>T (p.Leu246=)

SNV
Germline

Chr10:124403833

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA5733452

rs_146882296

3 SubmittersRCV001103332

NM_000274.4(OAT):c.48C>T (p.Arg16=)

SNV
Germline

Chr10:124412124

Conflicting classifications of pathogenicity

Condition: not provided
Ornithine aminotransferase deficiency
OAT-related disorder

Criteria Provided
Conflicting Classifications

CA5733623

rs_143526711

5 SubmittersRCV000733681 RCV001106381 RCV003938124

NM_000274.4(OAT):c.899C>T (p.Pro300Leu)

SNV
Germline

Chr10:124402928

Pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA378635040

rs_759979499

1 SubmittersRCV000735677

NM_000274.4(OAT):c.107G>C (p.Gly36Ala)

SNV
Germline

Chr10:124412065

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
Inborn genetic diseases
OAT-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5733611

rs_140786333

6 SubmittersRCV001106380 RCV002539165 RCV004756058 RCV004761843

NM_000274.4(OAT):c.1015-6A>G

SNV
Germline

Chr10:124400990

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
Condition: not provided
Uterine corpus endometrial carcinoma
Lung cancer
Sarcoma

Criteria Provided
Conflicting Classifications

CA5733343

rs_561800688

5 SubmittersRCV001103331 RCV003480887 RCV005907097 RCV005907096 RCV005907095

NM_000274.4(OAT):c.900+1G>A

SNV
Germline

Chr10:124402926

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635038

rs_1589700702

3 SubmittersRCV001003104

NM_000274.4(OAT):c.980C>G (p.Pro327Arg)

SNV
Germline

Chr10:124401760

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

CA378633954

rs_1589698958

1 SubmittersRCV001029755

NM_000274.4(OAT):c.1014+1G>A

SNV
Germline

Chr10:124401725

Likely pathogenic

Retinal dystrophy
Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA378633838

rs_1951414426

4 SubmittersRCV001074447 RCV001862828

NM_000274.4(OAT):c.1245G>A (p.Ala415=)

SNV
Germline

Chr10:124398017

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA5733285

rs_751449034

2 SubmittersRCV001103329

NM_000274.4(OAT):c.478G>A (p.Val160Met)

SNV
Germline

Chr10:124408584

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5733524

rs_148433929

5 SubmittersRCV001105247 RCV004032108

NM_000274.4(OAT):c.477C>T (p.Thr159=)

SNV
Germline

Chr10:124408585

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA5733525

rs_575839041

2 SubmittersRCV001106377

NM_000274.4(OAT):c.534G>A (p.Trp178Ter)

SNV
Germline

Chr10:124405550

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA215250677

rs_890106099

1 SubmittersRCV001203269

NM_000274.4(OAT):c.648+1G>A

SNV
Germline

Chr10:124405435

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA378636072

rs_1951546023

2 SubmittersRCV001212701

NM_000274.4(OAT):c.461G>A (p.Arg154His)

SNV
Germline

Chr10:124408601

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency

Criteria Provided
Conflicting Classifications

CA5733526

rs_121965039

3 SubmittersRCV001317107

NM_000274.4(OAT):c.416T>G (p.Met139Arg)

SNV
Germline

Chr10:124408749

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA215254025

rs_1043163922

4 SubmittersRCV001327620 RCV004762090

NM_000274.4(OAT):c.901-1G>A

SNV
Germline

Chr10:124401840

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378634350

rs_1951420329

1 SubmittersRCV001377882

NM_000274.4(OAT):c.520+1G>T

SNV
Germline

Chr10:124408541

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378636876

rs_2134476814

1 SubmittersRCV001379927

NM_000274.4(OAT):c.1150G>T (p.Glu384Ter)

SNV
Germline

Chr10:124400849

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378633518

rs_1285313333

1 SubmittersRCV001389086

NM_000274.4(OAT):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:124412171

Pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA378638384

rs_1283361732

2 SubmittersRCV001385599 RCV005057358

NM_000274.4(OAT):c.1249C>T (p.Pro417Ser)

SNV
Germline

Chr10:124398013

Conflicting classifications of pathogenicity

Ornithine aminotransferase deficiency
OAT-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5733284

rs_763915205

4 SubmittersRCV001990500 RCV003401984 RCV005253989

NM_000274.4(OAT):c.649-1G>C

SNV
Germline

Chr10:124403921

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635946

rs_551144161

1 SubmittersRCV001966080

NM_000274.4(OAT):c.772-1G>T

SNV
Germline

Chr10:124403056

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635679

rs_770390524

1 SubmittersRCV002000369

NM_000274.4(OAT):c.881T>A (p.Leu294His)

SNV
Germline

Chr10:124402946

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA5733404

rs_752974288

1 SubmittersRCV001893527

NM_000274.4(OAT):c.796C>T (p.Gln266Ter)

SNV
Germline

Chr10:124403031

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA378635591

rs_1951458291

2 SubmittersRCV002037794

NM_000274.4(OAT):c.1163G>A (p.Trp388Ter)

SNV
Germline

Chr10:124398099

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378633273

rs_2134440659

1 SubmittersRCV001943000

NM_000274.4(OAT):c.1159+1G>A

SNV
Germline

Chr10:124400839

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378633495

rs_2134450136

1 SubmittersRCV001885922

NM_000274.4(OAT):c.152G>A (p.Gly51Asp)

SNV
Germline

Chr10:124412020

Pathogenic/Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA5733602

rs_11553554

2 SubmittersRCV003062303

NM_000274.4(OAT):c.473A>C (p.Tyr158Ser)

SNV
Germline

Chr10:124408589

Likely pathogenic

Ornithine aminotransferase deficiency
Hyperornithinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA378636982

rs_2494500513

2 SubmittersRCV003079116 RCV005406579

NM_000274.4(OAT):c.697C>T (p.Gln233Ter)

SNV
Germline

Chr10:124403872

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635839

rs_780716161

1 SubmittersRCV002621041

NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)

SNV
Germline

Chr10:124408564

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378636924

rs_1270151043

1 SubmittersRCV002686238

NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)

SNV
Germline

Chr10:124398098

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378633271

rs_2494428598

1 SubmittersRCV002985439

NM_000274.4(OAT):c.468G>A (p.Trp156Ter)

SNV
Germline

Chr10:124408594

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378636993

rs_2494500603

1 SubmittersRCV003016614

NM_000274.4(OAT):c.759C>A (p.Cys253Ter)

SNV
Unknown

Chr10:124403810

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635718

rs_2494464815

1 SubmittersRCV003471620

NM_000274.4(OAT):c.1160-1G>C

SNV
Unknown

Chr10:124398103

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378633282

rs_2494428671

1 SubmittersRCV003471621

NM_000274.4(OAT):c.900+1G>C

SNV
Unknown

Chr10:124402926

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635037

rs_1589700702

1 SubmittersRCV003463214

NM_000274.4(OAT):c.969C>G (p.Tyr323Ter)

SNV
Unknown

Chr10:124401771

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378633991

rs_138895801

1 SubmittersRCV003471624

NM_000274.4(OAT):c.582C>G (p.Tyr194Ter)

SNV
Unknown

Chr10:124405502

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378636457

rs_754489812

1 SubmittersRCV003471625

NM_000274.4(OAT):c.49G>T (p.Gly17Ter)

SNV
Unknown

Chr10:124412123

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378638281

rs_760716065

1 SubmittersRCV003463217

NM_000274.4(OAT):c.771+2T>C

SNV
Germline

Chr10:124403796

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635686

rs_2494464646

1 SubmittersRCV003598299

NM_000274.4(OAT):c.424+1G>A

SNV
Germline

Chr10:124408740

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378637094

rs_2494502096

1 SubmittersRCV003599615

NM_000274.4(OAT):c.889G>T (p.Gly297Cys)

SNV
Germline

Chr10:124402938

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635106

rs_2494457225

1 SubmittersRCV003988684

NM_000274.4(OAT):c.742G>T (p.Gly248Ter)

SNV
Germline

Chr10:124403827

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

CA378635749

rs_2494465030

1 SubmittersRCV004018212

NM_000274.4(OAT):c.627T>G (p.Tyr209Ter)

SNV
Unknown

Chr10:124405457

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

rs_121965056

1 SubmittersRCV004574407

NM_000274.4(OAT):c.450T>A (p.Cys150Ter)

SNV
Unknown

Chr10:124408612

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

rs_1273610101

1 SubmittersRCV004574409

NM_000274.4(OAT):c.648+2T>C

SNV
Germline

Chr10:124405434

Pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004699070

NM_000274.4(OAT):c.1264G>T (p.Glu422Ter)

SNV
Germline

Chr10:124397998

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005043017

NM_000274.4(OAT):c.1159+2T>A

SNV
Germline

Chr10:124400838

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005032986

NM_000274.4(OAT):c.520+1G>A

SNV
Germline

Chr10:124408541

Likely pathogenic

Ornithine aminotransferase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005043048 RCV006605424

NM_000274.4(OAT):c.1235T>C (p.Ile412Thr)

SNV
Germline

Chr10:124398027

Likely pathogenic

Ornithine aminotransferase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005609477

NM_000274.4(OAT):c.772-1G>C

SNV
Germline

Chr10:124403056

Likely pathogenic

Ornithine aminotransferase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006507126