Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_014251.3(SLC25A13):c.1177+1G>A	SNV Germline	Chr7:96184276	Pathogenic	Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Late-onset citrullinemia Citrin deficiency Citrullinemia, type II, adult-onset	Criteria Provided Multiple Submitters No Conflicts	CA253674	rs_80338722	7 SubmittersRCV000006369 RCV000006370 RCV001277073 RCV000808307 RCV002259301
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	SNV Germline	Chr7:96191189	Pathogenic	Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency Citrullinemia Citrullinemia, type II, adult-onset	Criteria Provided Multiple Submitters No Conflicts	CA340498	rs_80338719	7 SubmittersRCV000006372 RCV001004531 RCV001247797 RCV001826423 RCV003472982
NM_014251.3(SLC25A13):c.1311+1G>A	SNV Germline	Chr7:96170044	Pathogenic	Citrullinemia type II Late-onset citrullinemia Citrin deficiency Condition: not provided Citrullinemia, type II, adult-onset	Criteria Provided Multiple Submitters No Conflicts	CA340500	rs_80338723	6 SubmittersRCV000006373 RCV001277071 RCV000796573 RCV003488327 RCV003472983
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)	SNV Germline	Chr7:96121733	Conflicting classifications of pathogenicity	Citrullinemia type II Inborn genetic diseases Condition: not provided Citrin deficiency Citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency	Criteria Provided Conflicting Classifications	CA253676	rs_121908532	6 SubmittersRCV000006376 RCV001267011 RCV000728351 RCV003581555 RCV001831517 RCV002508184
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	SNV Germline	Chr9:130452268	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253829	rs_121908636	7 SubmittersRCV000006696 RCV001376548
NM_054012.4(ASS1):c.470G>A (p.Arg157His)	SNV Germline	Chr9:130466774	Pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253830	rs_121908637	9 SubmittersRCV000006697 RCV000259104 RCV001376613
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	SNV Germline	Chr9:130470877	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253831	rs_121908638	9 SubmittersRCV000006698 RCV000185782 RCV001376618
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	SNV Germline	Chr9:130489464	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided ASS1-related disorder Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253832	rs_121908639	13 SubmittersRCV000006699 RCV001531743 RCV003934804 RCV001376631
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	SNV Germline	Chr9:130494983	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253833	rs_121908640	12 SubmittersRCV000006700 RCV000185787 RCV001376637
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	SNV Germline	Chr9:130499545	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA253834	rs_121908641	20 SubmittersRCV000006701 RCV000185789 RCV001376575 RCV002512846
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)	SNV Germline	Chr9:130489404	Pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253835	rs_121908642	9 SubmittersRCV000006702 RCV000723845 RCV001376582
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	SNV Germline	Chr9:130452281	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253836	rs_121908643	4 SubmittersRCV000006703 RCV002512847
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	SNV Germline	Chr9:130458482	Pathogenic	Citrullinemia type I Citrullinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253837	rs_121908644	7 SubmittersRCV000006704 RCV001376621 RCV001555941
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	SNV Germline	Chr9:130480446	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA253838	rs_121908645	9 SubmittersRCV000006705 RCV001376581
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	SNV Germline	Chr9:130458549	Conflicting classifications of pathogenicity	Citrullinemia type I not specified Citrullinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA253840	rs_35269064	12 SubmittersRCV000006706 RCV000436562 RCV001273804 RCV001705583
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	SNV Germline	Chr9:130470873	Pathogenic	Citrullinemia, mild Condition: not provided Citrullinemia type I Citrullinemia ASS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA118130	rs_121908646	14 SubmittersRCV000006707 RCV000291508 RCV000256312 RCV001376556 RCV003914816
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)	SNV Germline	Chr9:130494981	Pathogenic	Citrullinemia, mild Condition: not provided Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA118131	rs_121908647	7 SubmittersRCV000006708 RCV000418697 RCV000256322 RCV001851704
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)	SNV Germline	Chr9:130489422	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA253841	rs_121908648	3 SubmittersRCV000006711 RCV002512848
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)	SNV Germline	Chr7:96184376	Pathogenic/Likely pathogenic	Citrin deficiency Citrullinemia type II Late-onset citrullinemia Citrullinemia, type II, adult-onset	Criteria Provided Multiple Submitters No Conflicts	CA342148	rs_80338721	5 SubmittersRCV001058684 RCV001262833 RCV001272101 RCV002259307
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	SNV Germline	Chr7:96121683	Pathogenic/Likely pathogenic	Condition: not provided Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia type II Citrullinemia, type II, adult-onset Citrin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA342157	rs_80338729	7 SubmittersRCV000254826 RCV000020704 RCV002496427 RCV003230369 RCV003473115 RCV002513147
NM_014251.3(SLC25A13):c.615+5G>A	SNV Germline	Chr7:96193032	Pathogenic/Likely pathogenic	Neonatal intrahepatic cholestasis due to citrin deficiency Citrin deficiency Condition: not provided Citrullinemia type II Late-onset citrullinemia Citrullinemia, type II, adult-onset SLC25A13-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA342162	rs_80338717	11 SubmittersRCV000020707 RCV000811639 RCV000733522 RCV000779548 RCV001272104 RCV002259308 RCV003924850
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)	SNV Germline	Chr7:96184390	Conflicting classifications of pathogenicity	Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia type II Citrullinemia type I Citrin deficiency Citrullinemia, type II, adult-onset	Criteria Provided Conflicting Classifications	CA266749	rs_398122839	5 SubmittersRCV000077782 RCV000404137 RCV000292034 RCV001854367 RCV003474671
NM_054012.4(ASS1):c.496-2A>G	SNV Germline	Chr9:130470832	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266752	rs_398123130	3 SubmittersRCV000078020 RCV000723378
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)	SNV Germline	Chr9:130476878	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA285301	rs_376371866	5 SubmittersRCV000259040 RCV000796571 RCV001271730
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	SNV Germline	Chr9:130480398	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA266753	rs_192838388	15 SubmittersRCV000078024 RCV000185783 RCV001376591
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)	SNV Germline	Chr9:130480404	Pathogenic/Likely pathogenic	Condition: not provided Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA266754	rs_148918985	4 SubmittersRCV000078025 RCV001831814 RCV001247325
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	SNV Germline	Chr9:130480405	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA266755	rs_398123131	7 SubmittersRCV000078026 RCV000723811 RCV001383414
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	SNV Germline	Chr9:130480447	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA266756	rs_371265106	7 SubmittersRCV000078027 RCV000723467 RCV001290025
NM_054012.4(ASS1):c.1194-1G>C	SNV Germline	Chr9:130500975	Pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA273302	rs_727503814	8 SubmittersRCV000152808 RCV000723939 RCV001376639
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	SNV Germline	Chr9:130494926	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA274080	rs_786204537	6 SubmittersRCV000169239 RCV002228610
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)	SNV Germline	Chr9:130499515	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA273943	rs_786204460	2 SubmittersRCV000169103 RCV001850390
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	SNV Germline	Chr9:130480416	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA274963	rs_370595480	7 SubmittersRCV000174211 RCV000412912 RCV001290023
NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)	SNV Germline	Chr7:96146574	Conflicting classifications of pathogenicity	not specified Citrin deficiency Citrullinemia type II Condition: not provided	Criteria Provided Conflicting Classifications	CA201166	rs_146111714	4 SubmittersRCV000174767 RCV000876237 RCV001165294 RCV001697124
NM_054012.4(ASS1):c.1134C>T (p.Asn378=)	SNV Germline	Chr9:130499511	Conflicting classifications of pathogenicity	not specified Condition: not provided Citrullinemia Citrullinemia type I	Criteria Provided Conflicting Classifications	CA240420	rs_140715869	4 SubmittersRCV000174824 RCV000723379 RCV001507123 RCV001084361
NM_054012.4(ASS1):c.421-2A>G	SNV Germline	Chr9:130466723	Pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA275377	rs_751930594	9 SubmittersRCV000179704 RCV000723844 RCV001388057
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)	SNV Germline	Chr7:96121309	Conflicting classifications of pathogenicity	Citrullinemia type I Citrin deficiency Condition: not provided Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia type II Citrullinemia type II Late-onset citrullinemia SLC25A13-related disorder	Criteria Provided Conflicting Classifications	CA312978	rs_148962110	7 SubmittersRCV000270533 RCV000381101 RCV000726730 RCV000764738 RCV001095246 RCV001277319 RCV003967465
NM_054012.4(ASS1):c.-4C>T	SNV Germline	Chr9:130452225	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type I Citrullinemia not specified	Criteria Provided Conflicting Classifications	CA312353	rs_138350285	9 SubmittersRCV000185790 RCV000541100 RCV002228803 RCV003230438
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	SNV Germline	Chr9:130494984	Pathogenic/Likely pathogenic	Condition: not provided Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts	CA312352	rs_771937610	6 SubmittersRCV000185788 RCV000633525 RCV002500568
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)	SNV Germline	Chr9:130471489	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA275932	rs_777828000	7 SubmittersRCV000190357 RCV001376580
NM_054012.4(ASS1):c.689G>C (p.Gly230Ala)	SNV Germline	Chr9:130479716	Likely pathogenic	Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts	CA375229025	rs_1085307056	3 SubmittersRCV000490502
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)	SNV Germline	Chr7:96131829	Conflicting classifications of pathogenicity	Neonatal intrahepatic cholestasis due to citrin deficiency Condition: not provided Citrullinemia type II Citrin deficiency Citrullinemia, type II, adult-onset SLC25A13-related disorder	Criteria Provided Conflicting Classifications	CA4352889	rs_139149160	6 SubmittersRCV000239389 RCV000595565 RCV001163201 RCV002057271 RCV003475850 RCV003909878
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	SNV Germline	Chr9:130489413	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283572	rs_183276875	6 SubmittersRCV000255358 RCV000558661 RCV001376643
NM_054012.4(ASS1):c.257G>A (p.Arg86His)	SNV Germline	Chr9:130458483	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5283210	rs_575001023	4 SubmittersRCV000256238 RCV001376558 RCV001582905
NM_054012.4(ASS1):c.773+49C>T	SNV Germline	Chr9:130479849	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA5283474	rs_763389916	4 SubmittersRCV000256264 RCV002521863
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)	SNV Germline	Chr9:130489345	Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA10588902	rs_886039853	3 SubmittersRCV000256276 RCV002519007
NM_054012.4(ASS1):c.970+5G>A	SNV Germline	Chr9:130489469	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia See cases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5283585	rs_372128852	11 SubmittersRCV000256325 RCV001376552 RCV002252073 RCV003324739
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)	SNV Germline	Chr9:130494997	Conflicting classifications of pathogenicity	Citrullinemia type I not specified Condition: not provided Citrullinemia	Criteria Provided Conflicting Classifications	CA5283632	rs_139031154	6 SubmittersRCV000347561 RCV000377334 RCV001726087 RCV001507139
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)	SNV Germline	Chr7:96121909	Conflicting classifications of pathogenicity	not specified Citrin deficiency Late-onset citrullinemia Citrullinemia type II Condition: not provided	Criteria Provided Conflicting Classifications	CA4352820	rs_150082469	6 SubmittersRCV000387748 RCV000533240 RCV001277068 RCV001163199 RCV001726091
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)	SNV Germline	Chr7:96184366	Conflicting classifications of pathogenicity	Citrin deficiency Citrullinemia type I Inborn genetic diseases Citrullinemia type II Late-onset citrullinemia	Criteria Provided Conflicting Classifications	CA4353038	rs_35996658	4 SubmittersRCV000292722 RCV000350029 RCV002519511 RCV001095144 RCV001272331
NM_054012.4(ASS1):c.333C>T (p.Ala111=)	SNV Germline	Chr9:130458559	Conflicting classifications of pathogenicity	Citrullinemia type I not specified Condition: not provided Citrullinemia	Criteria Provided Conflicting Classifications	CA5283228	rs_141568959	5 SubmittersRCV000346855 RCV000780875 RCV001531742 RCV001450054
NM_054012.4(ASS1):c.566+11C>T	SNV Germline	Chr9:130470915	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283345	rs_200527708	3 SubmittersRCV000275092 RCV002523740
NM_054012.4(ASS1):c.858A>T (p.Ala286=)	SNV Germline	Chr9:130489352	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283564	rs_201905628	3 SubmittersRCV000317562 RCV001450074
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)	SNV Germline	Chr9:130489423	Conflicting classifications of pathogenicity	Citrullinemia type I Condition: not provided not specified Citrullinemia	Criteria Provided Conflicting Classifications	CA5283575	rs_199751308	7 SubmittersRCV000286574 RCV000413247 RCV000506573 RCV001376638
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr)	SNV Germline	Chr9:130494911	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283615	rs_145100866	3 SubmittersRCV000377584 RCV001391333
NM_054012.4(ASS1):c.1053G>A (p.Val351=)	SNV Germline	Chr9:130494949	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283620	rs_761241799	2 SubmittersRCV000290227 RCV002058779
NM_014251.3(SLC25A13):c.*570G>A	SNV Germline	Chr7:96120621	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia type II	Criteria Provided Conflicting Classifications	CA4352684	rs_147716687	1 SubmittersRCV000328397 RCV000385134
NM_014251.3(SLC25A13):c.1311+3A>G	SNV Germline	Chr7:96170042	Conflicting classifications of pathogenicity	Citrullinemia type I Citrin deficiency Condition: not provided Citrullinemia type II SLC25A13-related disorder	Criteria Provided Conflicting Classifications	CA4352968	rs_180844972	4 SubmittersRCV000268655 RCV000365675 RCV000594038 RCV001095293 RCV003950281
NM_014251.3(SLC25A13):c.1230+11T>C	SNV Germline	Chr7:96171461	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia type II Citrin deficiency	Criteria Provided Conflicting Classifications	CA4353003	rs_201352939	2 SubmittersRCV000267637 RCV000320495 RCV003581651
NM_054012.4(ASS1):c.240C>T (p.Ser80=)	SNV Germline	Chr9:130458466	Conflicting classifications of pathogenicity	Citrullinemia type I not specified Citrullinemia	Criteria Provided Conflicting Classifications	CA5283204	rs_147910468	4 SubmittersRCV000391907 RCV000605435 RCV001271726
NM_054012.4(ASS1):c.420+13T>G	SNV Germline	Chr9:130464180	Conflicting classifications of pathogenicity	Citrullinemia type I Condition: not provided Citrullinemia ASS1-related disorder	Criteria Provided Conflicting Classifications	CA5283271	rs_201883474	4 SubmittersRCV000307235 RCV000427536 RCV002058778 RCV003972538
NM_054012.4(ASS1):c.846C>T (p.Tyr282=)	SNV Germline	Chr9:130489340	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283561	rs_549085827	2 SubmittersRCV000259935 RCV001434170
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)	SNV Germline	Chr7:96121699	Conflicting classifications of pathogenicity	Citrullinemia type II Citrullinemia type I Citrin deficiency	Criteria Provided Conflicting Classifications	CA4352780	rs_757177279	2 SubmittersRCV000283345 RCV000337119 RCV001447525
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)	SNV Germline	Chr7:96170081	Conflicting classifications of pathogenicity	Citrin deficiency Citrullinemia type I Condition: not provided Late-onset citrullinemia Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia type II SLC25A13-related disorder	Criteria Provided Conflicting Classifications	CA4352975	rs_376416252	7 SubmittersRCV000307465 RCV000360049 RCV000597633 RCV001272329 RCV001507323 RCV001095294 RCV003902403
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=)	SNV Germline	Chr7:96191152	Conflicting classifications of pathogenicity	Citrullinemia type II Citrullinemia type I Citrin deficiency	Criteria Provided Conflicting Classifications	CA10629699	rs_886062529	2 SubmittersRCV000361887 RCV000394124 RCV002519512
NM_014251.3(SLC25A13):c.*792C>T	SNV Germline	Chr7:96120399	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia type II	Criteria Provided Conflicting Classifications	CA4352676	rs_574119069	1 SubmittersRCV000276344 RCV000333730
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)	SNV Germline	Chr7:96171472	Conflicting classifications of pathogenicity	Citrin deficiency Citrullinemia type I Condition: not provided Citrullinemia type II Citrullinemia	Criteria Provided Conflicting Classifications	CA4353006	rs_150021522	4 SubmittersRCV000262455 RCV000358899 RCV000730605 RCV001095143 RCV001828358
NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)	SNV Germline	Chr7:96321951	Conflicting classifications of pathogenicity	Citrullinemia type I Citrin deficiency Citrullinemia type II SLC25A13-related disorder	Criteria Provided Conflicting Classifications	CA4353437	rs_774562949	3 SubmittersRCV000329771 RCV000386707 RCV001095252 RCV003897806
NM_054012.4(ASS1):c.174+4C>A	SNV Germline	Chr9:130454377	Conflicting classifications of pathogenicity	Citrullinemia type I not specified Citrullinemia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5283170	rs_368133957	5 SubmittersRCV000343497 RCV000616413 RCV002523738 RCV002523739
NM_054012.4(ASS1):c.3G>A (p.Met1Ile)	SNV Unknown	Chr9:130452231	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter	CA16041297	rs_1057516960	1 SubmittersRCV000411464
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)	SNV Germline	Chr9:130464159	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA16041300	rs_1057516339	3 SubmittersRCV000409826 RCV003593953
NM_054012.4(ASS1):c.567-1G>T	SNV Unknown	Chr9:130471484	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter	CA16041301	rs_1057517259	1 SubmittersRCV000410192
NM_054012.4(ASS1):c.773+1G>A	SNV Germline	Chr9:130479801	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA16041302	rs_982830431	3 SubmittersRCV000410118 RCV001865271
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	SNV Germline	Chr9:130480425	Pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA5283537	rs_762387914	4 SubmittersRCV000409266 RCV001376574
NM_054012.4(ASS1):c.1127+1G>A	SNV Unknown	Chr9:130495024	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter	CA16041304	rs_1057517402	1 SubmittersRCV000411642
NM_054012.4(ASS1):c.566+1G>T	SNV Germline	Chr9:130470905	Pathogenic/Likely pathogenic	Condition: not provided Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts	CA16605533	rs_1057520659	2 SubmittersRCV000435951 RCV003470378
NM_054012.4(ASS1):c.786C>T (p.Gly262=)	SNV Germline	Chr9:130480397	Conflicting classifications of pathogenicity	not specified Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283531	rs_536799104	5 SubmittersRCV000424288 RCV000864912 RCV001420978
NM_014251.3(SLC25A13):c.468+1G>C	SNV Germline	Chr7:96208837	Likely pathogenic	Citrullinemia type II Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset	Criteria Provided Single Submitter	CA16616908	rs_1060499612	2 SubmittersRCV000477873 RCV004568140
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)	SNV Germline	Chr9:130458488	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA200608041	rs_895822620	3 SubmittersRCV000489131 RCV000527150 RCV001376543
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	SNV Germline	Chr9:130489341	Pathogenic/Likely pathogenic	Condition: not provided Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA5283562	rs_765338121	6 SubmittersRCV000493705 RCV000672066 RCV001290024
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)	SNV Germline	Chr9:130499550	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type I Citrullinemia not specified	Criteria Provided Conflicting Classifications	CA375232708	rs_1554725724	4 SubmittersRCV000497925 RCV000984146 RCV002230974 RCV002282180
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)	SNV Germline	Chr7:96184391	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type II Citrin deficiency Citrullinemia Citrullinemia, type II, adult-onset	Criteria Provided Conflicting Classifications	CA4353042	rs_758827458	5 SubmittersRCV000523426 RCV000779547 RCV000806593 RCV001834681 RCV003476219
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)	SNV Germline	Chr9:130494867	Pathogenic/Likely pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts	CA375231775	rs_1554725034	3 SubmittersRCV002231278 RCV003459204
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)	SNV Germline	Chr9:130464117	Pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts	CA200612215	rs_936192871	6 SubmittersRCV000552381 RCV001783037
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)	SNV Germline	Chr9:130470877	Likely pathogenic	Citrullinemia type I Citrullinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375227223	rs_121908638	4 SubmittersRCV000529881 RCV001376549 RCV002254300
NM_054012.4(ASS1):c.175-16G>T	SNV Germline	Chr9:130458385	Conflicting classifications of pathogenicity	not specified Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283186	rs_373936572	3 SubmittersRCV000601845 RCV000665349 RCV002066899
NM_054012.4(ASS1):c.930A>G (p.Lys310=)	SNV Germline	Chr9:130489424	Conflicting classifications of pathogenicity	not specified Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283576	rs_200219927	3 SubmittersRCV000601514 RCV000963463 RCV001420991
NM_054012.4(ASS1):c.174+10G>A	SNV Germline	Chr9:130454383	Conflicting classifications of pathogenicity	not specified Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283172	rs_371597908	4 SubmittersRCV000615098 RCV000904654 RCV001450088
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr9:130494965	Pathogenic/Likely pathogenic	Citrullinemia type I Condition: not provided Citrullinemia	Criteria Provided Multiple Submitters No Conflicts	CA5283626	rs_756859126	6 SubmittersRCV000633522 RCV000757010 RCV002233956
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	SNV Germline	Chr9:130494899	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications	CA5283610	rs_373514077	5 SubmittersRCV000633519 RCV002529816
NM_054012.4(ASS1):c.175-1G>A	SNV Unknown	Chr9:130458400	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_1554982809	1 SubmittersRCV000670490
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)	SNV Germline	Chr9:130464126	Conflicting classifications of pathogenicity	Citrullinemia type I	Criteria Provided Conflicting Classifications		rs_771794639	4 SubmittersRCV000668864
NM_054012.4(ASS1):c.420+1G>A	SNV Unknown	Chr9:130464168	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_1554983719	1 SubmittersRCV000671912
NM_054012.4(ASS1):c.970+1G>A	SNV Unknown	Chr9:130489465	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_1396766124	1 SubmittersRCV000674371
NM_054012.4(ASS1):c.1A>G (p.Met1Val)	SNV Unknown	Chr9:130452229	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_750780742	1 SubmittersRCV000665063
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)	SNV Germline	Chr9:130458442	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_1554982824	2 SubmittersRCV000666531 RCV002530687
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)	SNV Unknown	Chr9:130480434	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_1554723625	1 SubmittersRCV000673813
NM_054012.4(ASS1):c.971-1G>A	SNV Unknown	Chr9:130494866	Likely pathogenic	Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_1554725033	2 SubmittersRCV000666397
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	SNV Germline	Chr9:130458575	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_770944877	7 SubmittersRCV000671967 RCV001376559
NM_054012.4(ASS1):c.838+1G>T	SNV Germline	Chr9:130480450	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_750214431	3 SubmittersRCV000670816 RCV001376572
NM_054012.4(ASS1):c.1004G>A (p.Arg335His)	SNV Germline	Chr9:130494900	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_555388438	2 SubmittersRCV000670744 RCV002531260
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter)	SNV Unknown	Chr9:130458517	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_1554982847	1 SubmittersRCV000670815
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)	SNV Germline	Chr9:130464127	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_201623252	4 SubmittersRCV000665366 RCV003594016
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)	SNV Germline	Chr9:130479800	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_753078725	4 SubmittersRCV000669784 RCV002531238
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	SNV Germline	Chr9:130480419	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia Glycogen storage disease due to glucose-6-phosphatase deficiency type IA See cases	Criteria Provided Conflicting Classifications		rs_775163147	5 SubmittersRCV000673280 RCV002221574 RCV004544933 RCV004584400
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	SNV Germline	Chr9:130489425	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1301613270	3 SubmittersRCV000668096 RCV002532066
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)	SNV Germline	Chr9:130471495	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_1311437424	3 SubmittersRCV000702722 RCV002232935
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)	SNV Germline	Chr7:96189639	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type II Citrin deficiency not specified	Criteria Provided Conflicting Classifications		rs_531991442	4 SubmittersRCV000730946 RCV001158571 RCV001497957 RCV002233738
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)	SNV Germline	Chr7:96146654	Conflicting classifications of pathogenicity	Condition: not provided Citrullinemia type II Citrin deficiency Late-onset citrullinemia Citrullinemia, type II, adult-onset	Criteria Provided Conflicting Classifications		rs_143877538	7 SubmittersRCV000731811 RCV000791115 RCV001084376 RCV001277321 RCV001526420
NM_054012.4(ASS1):c.174+1G>T	SNV Germline	Chr9:130454374	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_748264993	5 SubmittersRCV000761224 RCV001376557
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)	SNV Germline	Chr9:130464127	Pathogenic	Citrullinemia type I Citrullinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_201623252	5 SubmittersRCV000761475 RCV001386473 RCV003317358
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)	SNV Germline	Chr9:130499543	Conflicting classifications of pathogenicity	Citrullinemia Citrullinemia type I not specified	Criteria Provided Conflicting Classifications		rs_1474017319	4 SubmittersRCV000800006 RCV001830721 RCV003317371
NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)	SNV Germline	Chr7:96208898	Conflicting classifications of pathogenicity	Citrullinemia type II Citrin deficiency SLC25A13-related disorder	Criteria Provided Conflicting Classifications		rs_188486690	3 SubmittersRCV001163308 RCV000872830 RCV003955696
NM_054012.4(ASS1):c.1056C>T (p.Ser352=)	SNV Germline	Chr9:130494952	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_766889925	3 SubmittersRCV000871373 RCV001450064
NM_054012.4(ASS1):c.175-4G>A	SNV Germline	Chr9:130458397	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_370817871	2 SubmittersRCV000871808 RCV001391336
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)	SNV Germline	Chr9:130494979	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_78564724	3 SubmittersRCV000952126 RCV001450087
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)	SNV Germline	Chr9:130499542	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_145288815	3 SubmittersRCV000884331 RCV001507156
NM_054012.4(ASS1):c.39C>T (p.Gly13=)	SNV Germline	Chr9:130452267	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_769672308	2 SubmittersRCV000927057 RCV001450059
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)	SNV Germline	Chr7:96191197	Conflicting classifications of pathogenicity	Citrin deficiency Citrullinemia type II Late-onset citrullinemia	Criteria Provided Conflicting Classifications		rs_200838637	3 SubmittersRCV000928878 RCV001161789 RCV001272332
NM_014251.3(SLC25A13):c.848+1G>T	SNV Germline	Chr7:96189580	Pathogenic/Likely pathogenic	Citrullinemia type I Citrin deficiency Citrullinemia, type II, adult-onset SLC25A13-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_761370420	4 SubmittersRCV000987930 RCV001044508 RCV003473532 RCV003936241
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp)	SNV Germline	Chr9:130458576	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_745404241	2 SubmittersRCV001004328 RCV002549237
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)	SNV Germline	Chr9:130458578	Pathogenic	Citrullinemia type I Citrullinemia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_775305020	6 SubmittersRCV001004329 RCV001376619 RCV002549238
NM_054012.4(ASS1):c.421-2A>C	SNV Unknown	Chr9:130466723	Likely pathogenic	Citrullinemia type I	No Assertion Criteria Provided		rs_751930594	1 SubmittersRCV001004330
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys)	SNV Germline	Chr9:130466773	Pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_770585183	3 SubmittersRCV001004331 RCV001376579
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)	SNV Germline	Chr9:130476920	Conflicting classifications of pathogenicity	Citrullinemia type I not specified Citrullinemia	Criteria Provided Conflicting Classifications		rs_1043964127	4 SubmittersRCV001004333 RCV001585913 RCV002549239
NM_054012.4(ASS1):c.689-2A>C	SNV Germline	Chr9:130479714	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_374586230	3 SubmittersRCV001004534 RCV002509589
NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter)	SNV Germline	Chr9:130479786	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_1588495489	1 SubmittersRCV001004535
NM_054012.4(ASS1):c.774-2A>G	SNV Germline	Chr9:130480383	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia ASS1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1588496214	4 SubmittersRCV001004536 RCV001377855 RCV003425879
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)	SNV Germline	Chr7:96184406	Pathogenic/Likely pathogenic	Citrin deficiency Citrullinemia Citrullinemia type II Citrullinemia, type II, adult-onset Neonatal intrahepatic cholestasis due to citrin deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1312396424	5 SubmittersRCV001061179 RCV001832548 RCV003226430 RCV003473677 RCV004584421
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)	SNV Germline	Chr9:130489340	Pathogenic/Likely pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_549085827	3 SubmittersRCV001042848 RCV001784584
NM_054012.4(ASS1):c.175-1119G>A	SNV Germline	Chr9:130457282	Pathogenic/Likely pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_1488840592	4 SubmittersRCV001051566 RCV001827325
NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)	SNV Germline	Chr7:96146589	Conflicting classifications of pathogenicity	Citrullinemia type II Citrin deficiency	Criteria Provided Conflicting Classifications		rs_201598915	2 SubmittersRCV001165295 RCV001474203
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=)	SNV Germline	Chr7:96191230	Conflicting classifications of pathogenicity	Citrullinemia type II Citrin deficiency	Criteria Provided Conflicting Classifications		rs_1794836188	2 SubmittersRCV001161791 RCV001477991
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)	SNV Germline	Chr7:96277318	Conflicting classifications of pathogenicity	Citrullinemia type II Citrin deficiency	Criteria Provided Conflicting Classifications		rs_777148254	2 SubmittersRCV001163309 RCV001481882
NM_014251.3(SLC25A13):c.1019-6T>C	SNV Germline	Chr7:96184441	Conflicting classifications of pathogenicity	Citrullinemia type II Citrin deficiency	Criteria Provided Conflicting Classifications		rs_1207471194	2 SubmittersRCV001158570 RCV002070952
NM_054012.4(ASS1):c.564C>T (p.Ile188=)	SNV Germline	Chr9:130470902	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_2297599	2 SubmittersRCV001169023 RCV001440809
NM_054012.4(ASS1):c.1074G>A (p.Val358=)	SNV Germline	Chr9:130494970	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_1256882753	2 SubmittersRCV001166609 RCV001430279
NM_054012.4(ASS1):c.174+11G>A	SNV Germline	Chr9:130454384	Conflicting classifications of pathogenicity	Citrullinemia type I Citrullinemia	Criteria Provided Conflicting Classifications		rs_771403927	2 SubmittersRCV001168285 RCV003759001
NM_054012.4(ASS1):c.420+1G>T	SNV Germline	Chr9:130464168	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_1554983719	1 SubmittersRCV001192847
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)	SNV Germline	Chr7:96121952	Likely pathogenic	Citrin deficiency Citrullinemia Citrullinemia type II Citrullinemia, type II, adult-onset	Criteria Provided Multiple Submitters No Conflicts		rs_548769905	4 SubmittersRCV001203153 RCV001833784 RCV003155369 RCV003473738
NM_054012.4(ASS1):c.356C>T (p.Thr119Ile)	SNV Germline	Chr9:130458582	Pathogenic/Likely pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_1845507027	2 SubmittersRCV001209466 RCV003462700
NM_054012.4(ASS1):c.364-2A>T	SNV Germline	Chr9:130464109	Likely pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_774231051	2 SubmittersRCV001222048 RCV003469382
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)	SNV Germline	Chr9:130489405	Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts		rs_771640767	3 SubmittersRCV001246468 RCV002241559
NM_054012.4(ASS1):c.830A>G (p.Lys277Arg)	SNV Germline	Chr9:130480441	Pathogenic	Citrullinemia type I	No Assertion Criteria Provided		rs_1846142065	1 SubmittersRCV001250094
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)	SNV Germline	Chr9:130466783	Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Single Submitter		rs_969835605	2 SubmittersRCV001283858 RCV003230657
NM_054012.4(ASS1):c.839-2A>T	SNV Germline	Chr9:130489331	Likely pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Single Submitter		rs_2118864015	2 SubmittersRCV001379731 RCV001831372
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)	SNV Germline	Chr9:130494944	Pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_2118880266	2 SubmittersRCV001383471 RCV003462992
NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter)	SNV Germline	Chr9:130494914	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_2118880170	1 SubmittersRCV001580630
NM_054012.4(ASS1):c.815G>A (p.Arg272His)	SNV Germline	Chr9:130480426	Pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_768215008	2 SubmittersRCV003226684 RCV003459808
NM_054012.4(ASS1):c.571G>T (p.Glu191Ter)	SNV Germline	Chr9:130471489	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter		rs_777828000	1 SubmittersRCV001780653
NM_054012.4(ASS1):c.904A>G (p.Met302Val)	SNV Germline	Chr9:130489398	Conflicting classifications of pathogenicity	Citrullinemia type I not specified	Criteria Provided Conflicting Classifications		rs_1846391609	2 SubmittersRCV001780654 RCV002282577
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)	SNV Germline	Chr9:130458512	Likely pathogenic	Citrullinemia Citrullinemia type I See cases	Criteria Provided Multiple Submitters No Conflicts		rs_2131874080	3 SubmittersRCV002221688 RCV003485733 RCV004584443
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)	SNV Germline	Chr9:130458432	Conflicting classifications of pathogenicity	Citrullinemia See cases Citrullinemia type I	Criteria Provided Conflicting Classifications		rs_771594651	4 SubmittersRCV002221689 RCV004584444 RCV003475100
NM_054012.4(ASS1):c.364-2A>G	SNV Germline	Chr9:130464109	Pathogenic	Citrullinemia type I Citrullinemia, type II, adult-onset	Criteria Provided Multiple Submitters No Conflicts		rs_774231051	2 SubmittersRCV001824208 RCV003987911
NM_054012.4(ASS1):c.174+1G>A	SNV Germline	Chr9:130454374	Pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts		rs_748264993	2 SubmittersRCV001949257 RCV003471179
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)	SNV Germline	Chr9:130489386	Conflicting classifications of pathogenicity	Citrullinemia Citrullinemia type I Cardiac arrhythmia	Criteria Provided Conflicting Classifications		rs_1372482894	3 SubmittersRCV001972104 RCV003464265 RCV004542186
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)	SNV Germline	Chr7:96191109	Pathogenic/Likely pathogenic	Citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency Citrullinemia, type II, adult-onset Citrullinemia type II Citrullinemia, type II, adult-onset	Criteria Provided Multiple Submitters No Conflicts		rs_973986984	4 SubmittersRCV002007458 RCV002479573 RCV003388066 RCV003471124
NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)	SNV Germline	Chr7:96171492	Likely pathogenic	Citrullinemia type II	Criteria Provided Single Submitter		rs_1793999476	1 SubmittersRCV002266455
NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)	SNV Unknown	Chr9:130466797	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV002309651
NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)	SNV Unknown	Chr9:130494938	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV002309502
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)	SNV Germline	Chr9:130458497	Pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003058237 RCV003459721
NM_054012.4(ASS1):c.773+4A>C	SNV Germline	Chr9:130479804	Pathogenic/Likely pathogenic	Citrullinemia Citrullinemia type I	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002994081 RCV003464648
NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)	SNV Germline	Chr7:96277305	Likely pathogenic	Citrullinemia type II	Criteria Provided Single Submitter			1 SubmittersRCV003324175
NM_054012.4(ASS1):c.1193+1G>T	SNV Unknown	Chr9:130499571	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003466399
NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)	SNV Unknown	Chr9:130452297	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003463553
NM_054012.4(ASS1):c.364-2A>C	SNV Unknown	Chr9:130464109	Pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003463555
NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)	SNV Unknown	Chr9:130464148	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003463563
NM_054012.4(ASS1):c.839-1G>A	SNV Unknown	Chr9:130489332	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003474045
NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)	SNV Unknown	Chr9:130480426	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003466414
NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)	SNV Unknown	Chr9:130458495	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003466416
NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)	SNV Germline	Chr9:130466735	Conflicting classifications of pathogenicity	Citrullinemia type I not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003463573 RCV004526990
NM_054012.4(ASS1):c.174+1G>C	SNV Unknown	Chr9:130454374	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003466427
NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)	SNV Unknown	Chr9:130454318	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003464667
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)	SNV Germline	Chr9:130471489	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003472922 RCV003594697
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)	SNV Germline	Chr9:130476904	Pathogenic/Likely pathogenic	Citrullinemia type I Citrullinemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004573204 RCV003759282
NM_054012.4(ASS1):c.175-2A>G	SNV Germline	Chr9:130458399	Likely pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV003985971
NM_054012.4(ASS1):c.1194-2A>G	SNV Unknown	Chr9:130500974	Pathogenic	Citrullinemia type I	Criteria Provided Single Submitter			1 SubmittersRCV004573787

SNV
Germline

Chr7:96184276

Pathogenic

Citrullinemia type II
Neonatal intrahepatic cholestasis due to citrin deficiency
Late-onset citrullinemia
Citrin deficiency
Citrullinemia, type II, adult-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA253674

rs_80338722

7 SubmittersRCV000006369 RCV000006370 RCV001277073 RCV000808307 RCV002259301

NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)

SNV
Germline

Chr7:96191189

Pathogenic

Citrullinemia type II
Neonatal intrahepatic cholestasis due to citrin deficiency
Citrin deficiency
Citrullinemia
Citrullinemia, type II, adult-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA340498

rs_80338719

7 SubmittersRCV000006372 RCV001004531 RCV001247797 RCV001826423 RCV003472982

NM_014251.3(SLC25A13):c.1311+1G>A

SNV
Germline

Chr7:96170044

Pathogenic

Citrullinemia type II
Late-onset citrullinemia
Citrin deficiency
Condition: not provided
Citrullinemia, type II, adult-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA340500

rs_80338723

6 SubmittersRCV000006373 RCV001277071 RCV000796573 RCV003488327 RCV003472983

NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)

SNV
Germline

Chr7:96121733

Conflicting classifications of pathogenicity

Citrullinemia type II
Inborn genetic diseases
Condition: not provided
Citrin deficiency
Citrullinemia
Neonatal intrahepatic cholestasis due to citrin deficiency

Criteria Provided
Conflicting Classifications

CA253676

rs_121908532

6 SubmittersRCV000006376 RCV001267011 RCV000728351 RCV003581555 RCV001831517 RCV002508184

NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)

SNV
Germline

Chr9:130452268

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253829

rs_121908636

7 SubmittersRCV000006696 RCV001376548

NM_054012.4(ASS1):c.470G>A (p.Arg157His)

SNV
Germline

Chr9:130466774

Pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253830

rs_121908637

9 SubmittersRCV000006697 RCV000259104 RCV001376613

NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)

SNV
Germline

Chr9:130470877

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253831

rs_121908638

9 SubmittersRCV000006698 RCV000185782 RCV001376618

NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)

SNV
Germline

Chr9:130489464

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
ASS1-related disorder
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253832

rs_121908639

13 SubmittersRCV000006699 RCV001531743 RCV003934804 RCV001376631

NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)

SNV
Germline

Chr9:130494983

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253833

rs_121908640

12 SubmittersRCV000006700 RCV000185787 RCV001376637

NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)

SNV
Germline

Chr9:130499545

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA253834

rs_121908641

20 SubmittersRCV000006701 RCV000185789 RCV001376575 RCV002512846

NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)

SNV
Germline

Chr9:130489404

Pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253835

rs_121908642

9 SubmittersRCV000006702 RCV000723845 RCV001376582

NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)

SNV
Germline

Chr9:130452281

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253836

rs_121908643

4 SubmittersRCV000006703 RCV002512847

NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)

SNV
Germline

Chr9:130458482

Pathogenic

Citrullinemia type I
Citrullinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253837

rs_121908644

7 SubmittersRCV000006704 RCV001376621 RCV001555941

NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)

SNV
Germline

Chr9:130480446

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253838

rs_121908645

9 SubmittersRCV000006705 RCV001376581

NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)

SNV
Germline

Chr9:130458549

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified
Citrullinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA253840

rs_35269064

12 SubmittersRCV000006706 RCV000436562 RCV001273804 RCV001705583

NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)

SNV
Germline

Chr9:130470873

Pathogenic

Citrullinemia, mild
Condition: not provided
Citrullinemia type I
Citrullinemia
ASS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA118130

rs_121908646

14 SubmittersRCV000006707 RCV000291508 RCV000256312 RCV001376556 RCV003914816

NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)

SNV
Germline

Chr9:130494981

Pathogenic

Citrullinemia, mild
Condition: not provided
Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA118131

rs_121908647

7 SubmittersRCV000006708 RCV000418697 RCV000256322 RCV001851704

NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)

SNV
Germline

Chr9:130489422

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA253841

rs_121908648

3 SubmittersRCV000006711 RCV002512848

NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)

SNV
Germline

Chr7:96184376

Pathogenic/Likely pathogenic

Citrin deficiency
Citrullinemia type II
Late-onset citrullinemia
Citrullinemia, type II, adult-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA342148

rs_80338721

5 SubmittersRCV001058684 RCV001262833 RCV001272101 RCV002259307

NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)

SNV
Germline

Chr7:96121683

Pathogenic/Likely pathogenic

Condition: not provided
Neonatal intrahepatic cholestasis due to citrin deficiency
Citrullinemia, type II, adult-onset
Neonatal intrahepatic cholestasis due to citrin deficiency
Citrullinemia type II
Citrullinemia, type II, adult-onset
Citrin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA342157

rs_80338729

7 SubmittersRCV000254826 RCV000020704 RCV002496427 RCV003230369 RCV003473115 RCV002513147

NM_014251.3(SLC25A13):c.615+5G>A

SNV
Germline

Chr7:96193032

Pathogenic/Likely pathogenic

Neonatal intrahepatic cholestasis due to citrin deficiency
Citrin deficiency
Condition: not provided
Citrullinemia type II
Late-onset citrullinemia
Citrullinemia, type II, adult-onset
SLC25A13-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA342162

rs_80338717

11 SubmittersRCV000020707 RCV000811639 RCV000733522 RCV000779548 RCV001272104 RCV002259308 RCV003924850

NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)

SNV
Germline

Chr7:96184390

Conflicting classifications of pathogenicity

Neonatal intrahepatic cholestasis due to citrin deficiency
Citrullinemia type II
Citrullinemia type I
Citrin deficiency
Citrullinemia, type II, adult-onset

Criteria Provided
Conflicting Classifications

CA266749

rs_398122839

5 SubmittersRCV000077782 RCV000404137 RCV000292034 RCV001854367 RCV003474671

NM_054012.4(ASS1):c.496-2A>G

SNV
Germline

Chr9:130470832

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266752

rs_398123130

3 SubmittersRCV000078020 RCV000723378

NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)

SNV
Germline

Chr9:130476878

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA285301

rs_376371866

5 SubmittersRCV000259040 RCV000796571 RCV001271730

NM_054012.4(ASS1):c.787G>A (p.Val263Met)

SNV
Germline

Chr9:130480398

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA266753

rs_192838388

15 SubmittersRCV000078024 RCV000185783 RCV001376591

NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)

SNV
Germline

Chr9:130480404

Pathogenic/Likely pathogenic

Condition: not provided
Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA266754

rs_148918985

4 SubmittersRCV000078025 RCV001831814 RCV001247325

NM_054012.4(ASS1):c.794G>A (p.Arg265His)

SNV
Germline

Chr9:130480405

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA266755

rs_398123131

7 SubmittersRCV000078026 RCV000723811 RCV001383414

NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)

SNV
Germline

Chr9:130480447

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA266756

rs_371265106

7 SubmittersRCV000078027 RCV000723467 RCV001290025

NM_054012.4(ASS1):c.1194-1G>C

SNV
Germline

Chr9:130500975

Pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA273302

rs_727503814

8 SubmittersRCV000152808 RCV000723939 RCV001376639

NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)

SNV
Germline

Chr9:130494926

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA274080

rs_786204537

6 SubmittersRCV000169239 RCV002228610

NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)

SNV
Germline

Chr9:130499515

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA273943

rs_786204460

2 SubmittersRCV000169103 RCV001850390

NM_054012.4(ASS1):c.805G>A (p.Val269Met)

SNV
Germline

Chr9:130480416

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA274963

rs_370595480

7 SubmittersRCV000174211 RCV000412912 RCV001290023

NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)

SNV
Germline

Chr7:96146574

Conflicting classifications of pathogenicity

not specified
Citrin deficiency
Citrullinemia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201166

rs_146111714

4 SubmittersRCV000174767 RCV000876237 RCV001165294 RCV001697124

NM_054012.4(ASS1):c.1134C>T (p.Asn378=)

SNV
Germline

Chr9:130499511

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Citrullinemia
Citrullinemia type I

Criteria Provided
Conflicting Classifications

CA240420

rs_140715869

4 SubmittersRCV000174824 RCV000723379 RCV001507123 RCV001084361

NM_054012.4(ASS1):c.421-2A>G

SNV
Germline

Chr9:130466723

Pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA275377

rs_751930594

9 SubmittersRCV000179704 RCV000723844 RCV001388057

NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)

SNV
Germline

Chr7:96121309

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrin deficiency
Condition: not provided
Neonatal intrahepatic cholestasis due to citrin deficiency
Citrullinemia type II
Citrullinemia type II
Late-onset citrullinemia
SLC25A13-related disorder

Criteria Provided
Conflicting Classifications

CA312978

rs_148962110

7 SubmittersRCV000270533 RCV000381101 RCV000726730 RCV000764738 RCV001095246 RCV001277319 RCV003967465

NM_054012.4(ASS1):c.-4C>T

SNV
Germline

Chr9:130452225

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type I
Citrullinemia
not specified

Criteria Provided
Conflicting Classifications

CA312353

rs_138350285

9 SubmittersRCV000185790 RCV000541100 RCV002228803 RCV003230438

NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)

SNV
Germline

Chr9:130494984

Pathogenic/Likely pathogenic

Condition: not provided
Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

CA312352

rs_771937610

6 SubmittersRCV000185788 RCV000633525 RCV002500568

NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)

SNV
Germline

Chr9:130471489

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA275932

rs_777828000

7 SubmittersRCV000190357 RCV001376580

NM_054012.4(ASS1):c.689G>C (p.Gly230Ala)

SNV
Germline

Chr9:130479716

Likely pathogenic

Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

CA375229025

rs_1085307056

3 SubmittersRCV000490502

NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)

SNV
Germline

Chr7:96131829

Conflicting classifications of pathogenicity

Neonatal intrahepatic cholestasis due to citrin deficiency
Condition: not provided
Citrullinemia type II
Citrin deficiency
Citrullinemia, type II, adult-onset
SLC25A13-related disorder

Criteria Provided
Conflicting Classifications

CA4352889

rs_139149160

6 SubmittersRCV000239389 RCV000595565 RCV001163201 RCV002057271 RCV003475850 RCV003909878

NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)

SNV
Germline

Chr9:130489413

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283572

rs_183276875

6 SubmittersRCV000255358 RCV000558661 RCV001376643

NM_054012.4(ASS1):c.257G>A (p.Arg86His)

SNV
Germline

Chr9:130458483

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5283210

rs_575001023

4 SubmittersRCV000256238 RCV001376558 RCV001582905

NM_054012.4(ASS1):c.773+49C>T

SNV
Germline

Chr9:130479849

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5283474

rs_763389916

4 SubmittersRCV000256264 RCV002521863

NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)

SNV
Germline

Chr9:130489345

Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10588902

rs_886039853

3 SubmittersRCV000256276 RCV002519007

NM_054012.4(ASS1):c.970+5G>A

SNV
Germline

Chr9:130489469

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia
See cases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5283585

rs_372128852

11 SubmittersRCV000256325 RCV001376552 RCV002252073 RCV003324739

NM_054012.4(ASS1):c.1101G>A (p.Leu367=)

SNV
Germline

Chr9:130494997

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified
Condition: not provided
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283632

rs_139031154

6 SubmittersRCV000347561 RCV000377334 RCV001726087 RCV001507139

NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)

SNV
Germline

Chr7:96121909

Conflicting classifications of pathogenicity

not specified
Citrin deficiency
Late-onset citrullinemia
Citrullinemia type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4352820

rs_150082469

6 SubmittersRCV000387748 RCV000533240 RCV001277068 RCV001163199 RCV001726091

NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)

SNV
Germline

Chr7:96184366

Conflicting classifications of pathogenicity

Citrin deficiency
Citrullinemia type I
Inborn genetic diseases
Citrullinemia type II
Late-onset citrullinemia

Criteria Provided
Conflicting Classifications

CA4353038

rs_35996658

4 SubmittersRCV000292722 RCV000350029 RCV002519511 RCV001095144 RCV001272331

NM_054012.4(ASS1):c.333C>T (p.Ala111=)

SNV
Germline

Chr9:130458559

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified
Condition: not provided
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283228

rs_141568959

5 SubmittersRCV000346855 RCV000780875 RCV001531742 RCV001450054

NM_054012.4(ASS1):c.566+11C>T

SNV
Germline

Chr9:130470915

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283345

rs_200527708

3 SubmittersRCV000275092 RCV002523740

NM_054012.4(ASS1):c.858A>T (p.Ala286=)

SNV
Germline

Chr9:130489352

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283564

rs_201905628

3 SubmittersRCV000317562 RCV001450074

NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)

SNV
Germline

Chr9:130489423

Conflicting classifications of pathogenicity

Citrullinemia type I
Condition: not provided
not specified
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283575

rs_199751308

7 SubmittersRCV000286574 RCV000413247 RCV000506573 RCV001376638

NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr)

SNV
Germline

Chr9:130494911

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283615

rs_145100866

3 SubmittersRCV000377584 RCV001391333

NM_054012.4(ASS1):c.1053G>A (p.Val351=)

SNV
Germline

Chr9:130494949

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283620

rs_761241799

2 SubmittersRCV000290227 RCV002058779

NM_014251.3(SLC25A13):c.*570G>A

SNV
Germline

Chr7:96120621

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia type II

Criteria Provided
Conflicting Classifications

CA4352684

rs_147716687

1 SubmittersRCV000328397 RCV000385134

NM_014251.3(SLC25A13):c.1311+3A>G

SNV
Germline

Chr7:96170042

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrin deficiency
Condition: not provided
Citrullinemia type II
SLC25A13-related disorder

Criteria Provided
Conflicting Classifications

CA4352968

rs_180844972

4 SubmittersRCV000268655 RCV000365675 RCV000594038 RCV001095293 RCV003950281

NM_014251.3(SLC25A13):c.1230+11T>C

SNV
Germline

Chr7:96171461

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia type II
Citrin deficiency

Criteria Provided
Conflicting Classifications

CA4353003

rs_201352939

2 SubmittersRCV000267637 RCV000320495 RCV003581651

NM_054012.4(ASS1):c.240C>T (p.Ser80=)

SNV
Germline

Chr9:130458466

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283204

rs_147910468

4 SubmittersRCV000391907 RCV000605435 RCV001271726

NM_054012.4(ASS1):c.420+13T>G

SNV
Germline

Chr9:130464180

Conflicting classifications of pathogenicity

Citrullinemia type I
Condition: not provided
Citrullinemia
ASS1-related disorder

Criteria Provided
Conflicting Classifications

CA5283271

rs_201883474

4 SubmittersRCV000307235 RCV000427536 RCV002058778 RCV003972538

NM_054012.4(ASS1):c.846C>T (p.Tyr282=)

SNV
Germline

Chr9:130489340

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283561

rs_549085827

2 SubmittersRCV000259935 RCV001434170

NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)

SNV
Germline

Chr7:96121699

Conflicting classifications of pathogenicity

Citrullinemia type II
Citrullinemia type I
Citrin deficiency

Criteria Provided
Conflicting Classifications

CA4352780

rs_757177279

2 SubmittersRCV000283345 RCV000337119 RCV001447525

NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)

SNV
Germline

Chr7:96170081

Conflicting classifications of pathogenicity

Citrin deficiency
Citrullinemia type I
Condition: not provided
Late-onset citrullinemia
Neonatal intrahepatic cholestasis due to citrin deficiency
Citrullinemia type II
SLC25A13-related disorder

Criteria Provided
Conflicting Classifications

CA4352975

rs_376416252

7 SubmittersRCV000307465 RCV000360049 RCV000597633 RCV001272329 RCV001507323 RCV001095294 RCV003902403

NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=)

SNV
Germline

Chr7:96191152

Conflicting classifications of pathogenicity

Citrullinemia type II
Citrullinemia type I
Citrin deficiency

Criteria Provided
Conflicting Classifications

CA10629699

rs_886062529

2 SubmittersRCV000361887 RCV000394124 RCV002519512

NM_014251.3(SLC25A13):c.*792C>T

SNV
Germline

Chr7:96120399

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia type II

Criteria Provided
Conflicting Classifications

CA4352676

rs_574119069

1 SubmittersRCV000276344 RCV000333730

NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)

SNV
Germline

Chr7:96171472

Conflicting classifications of pathogenicity

Citrin deficiency
Citrullinemia type I
Condition: not provided
Citrullinemia type II
Citrullinemia

Criteria Provided
Conflicting Classifications

CA4353006

rs_150021522

4 SubmittersRCV000262455 RCV000358899 RCV000730605 RCV001095143 RCV001828358

NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)

SNV
Germline

Chr7:96321951

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrin deficiency
Citrullinemia type II
SLC25A13-related disorder

Criteria Provided
Conflicting Classifications

CA4353437

rs_774562949

3 SubmittersRCV000329771 RCV000386707 RCV001095252 RCV003897806

NM_054012.4(ASS1):c.174+4C>A

SNV
Germline

Chr9:130454377

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified
Citrullinemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5283170

rs_368133957

5 SubmittersRCV000343497 RCV000616413 RCV002523738 RCV002523739

NM_054012.4(ASS1):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr9:130452231

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

CA16041297

rs_1057516960

1 SubmittersRCV000411464

NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)

SNV
Germline

Chr9:130464159

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041300

rs_1057516339

3 SubmittersRCV000409826 RCV003593953

NM_054012.4(ASS1):c.567-1G>T

SNV
Unknown

Chr9:130471484

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

CA16041301

rs_1057517259

1 SubmittersRCV000410192

NM_054012.4(ASS1):c.773+1G>A

SNV
Germline

Chr9:130479801

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041302

rs_982830431

3 SubmittersRCV000410118 RCV001865271

NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)

SNV
Germline

Chr9:130480425

Pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5283537

rs_762387914

4 SubmittersRCV000409266 RCV001376574

NM_054012.4(ASS1):c.1127+1G>A

SNV
Unknown

Chr9:130495024

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

CA16041304

rs_1057517402

1 SubmittersRCV000411642

NM_054012.4(ASS1):c.566+1G>T

SNV
Germline

Chr9:130470905

Pathogenic/Likely pathogenic

Condition: not provided
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

CA16605533

rs_1057520659

2 SubmittersRCV000435951 RCV003470378

NM_054012.4(ASS1):c.786C>T (p.Gly262=)

SNV
Germline

Chr9:130480397

Conflicting classifications of pathogenicity

not specified
Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283531

rs_536799104

5 SubmittersRCV000424288 RCV000864912 RCV001420978

NM_014251.3(SLC25A13):c.468+1G>C

SNV
Germline

Chr7:96208837

Likely pathogenic

Citrullinemia type II
Neonatal intrahepatic cholestasis due to citrin deficiency
Citrullinemia, type II, adult-onset

Criteria Provided
Single Submitter

CA16616908

rs_1060499612

2 SubmittersRCV000477873 RCV004568140

NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)

SNV
Germline

Chr9:130458488

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA200608041

rs_895822620

3 SubmittersRCV000489131 RCV000527150 RCV001376543

NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)

SNV
Germline

Chr9:130489341

Pathogenic/Likely pathogenic

Condition: not provided
Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5283562

rs_765338121

6 SubmittersRCV000493705 RCV000672066 RCV001290024

NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)

SNV
Germline

Chr9:130499550

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type I
Citrullinemia
not specified

Criteria Provided
Conflicting Classifications

CA375232708

rs_1554725724

4 SubmittersRCV000497925 RCV000984146 RCV002230974 RCV002282180

NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)

SNV
Germline

Chr7:96184391

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type II
Citrin deficiency
Citrullinemia
Citrullinemia, type II, adult-onset

Criteria Provided
Conflicting Classifications

CA4353042

rs_758827458

5 SubmittersRCV000523426 RCV000779547 RCV000806593 RCV001834681 RCV003476219

NM_054012.4(ASS1):c.971G>T (p.Gly324Val)

SNV
Germline

Chr9:130494867

Pathogenic/Likely pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

CA375231775

rs_1554725034

3 SubmittersRCV002231278 RCV003459204

NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)

SNV
Germline

Chr9:130464117

Pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

CA200612215

rs_936192871

6 SubmittersRCV000552381 RCV001783037

NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)

SNV
Germline

Chr9:130470877

Likely pathogenic

Citrullinemia type I
Citrullinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375227223

rs_121908638

4 SubmittersRCV000529881 RCV001376549 RCV002254300

NM_054012.4(ASS1):c.175-16G>T

SNV
Germline

Chr9:130458385

Conflicting classifications of pathogenicity

not specified
Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283186

rs_373936572

3 SubmittersRCV000601845 RCV000665349 RCV002066899

NM_054012.4(ASS1):c.930A>G (p.Lys310=)

SNV
Germline

Chr9:130489424

Conflicting classifications of pathogenicity

not specified
Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283576

rs_200219927

3 SubmittersRCV000601514 RCV000963463 RCV001420991

NM_054012.4(ASS1):c.174+10G>A

SNV
Germline

Chr9:130454383

Conflicting classifications of pathogenicity

not specified
Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283172

rs_371597908

4 SubmittersRCV000615098 RCV000904654 RCV001450088

NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr9:130494965

Pathogenic/Likely pathogenic

Citrullinemia type I
Condition: not provided
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5283626

rs_756859126

6 SubmittersRCV000633522 RCV000757010 RCV002233956

NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)

SNV
Germline

Chr9:130494899

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

CA5283610

rs_373514077

5 SubmittersRCV000633519 RCV002529816

NM_054012.4(ASS1):c.175-1G>A

SNV
Unknown

Chr9:130458400

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_1554982809

1 SubmittersRCV000670490

NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)

SNV
Germline

Chr9:130464126

Conflicting classifications of pathogenicity

Citrullinemia type I

Criteria Provided
Conflicting Classifications

rs_771794639

4 SubmittersRCV000668864

NM_054012.4(ASS1):c.420+1G>A

SNV
Unknown

Chr9:130464168

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_1554983719

1 SubmittersRCV000671912

NM_054012.4(ASS1):c.970+1G>A

SNV
Unknown

Chr9:130489465

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_1396766124

1 SubmittersRCV000674371

NM_054012.4(ASS1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr9:130452229

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_750780742

1 SubmittersRCV000665063

NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)

SNV
Germline

Chr9:130458442

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_1554982824

2 SubmittersRCV000666531 RCV002530687

NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)

SNV
Unknown

Chr9:130480434

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_1554723625

1 SubmittersRCV000673813

NM_054012.4(ASS1):c.971-1G>A

SNV
Unknown

Chr9:130494866

Likely pathogenic

Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554725033

2 SubmittersRCV000666397

NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)

SNV
Germline

Chr9:130458575

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_770944877

7 SubmittersRCV000671967 RCV001376559

NM_054012.4(ASS1):c.838+1G>T

SNV
Germline

Chr9:130480450

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_750214431

3 SubmittersRCV000670816 RCV001376572

NM_054012.4(ASS1):c.1004G>A (p.Arg335His)

SNV
Germline

Chr9:130494900

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_555388438

2 SubmittersRCV000670744 RCV002531260

NM_054012.4(ASS1):c.291C>A (p.Cys97Ter)

SNV
Unknown

Chr9:130458517

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_1554982847

1 SubmittersRCV000670815

NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)

SNV
Germline

Chr9:130464127

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_201623252

4 SubmittersRCV000665366 RCV003594016

NM_054012.4(ASS1):c.773C>T (p.Ala258Val)

SNV
Germline

Chr9:130479800

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_753078725

4 SubmittersRCV000669784 RCV002531238

NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)

SNV
Germline

Chr9:130480419

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
See cases

Criteria Provided
Conflicting Classifications

rs_775163147

5 SubmittersRCV000673280 RCV002221574 RCV004544933 RCV004584400

NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)

SNV
Germline

Chr9:130489425

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1301613270

3 SubmittersRCV000668096 RCV002532066

NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)

SNV
Germline

Chr9:130471495

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_1311437424

3 SubmittersRCV000702722 RCV002232935

NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)

SNV
Germline

Chr7:96189639

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type II
Citrin deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_531991442

4 SubmittersRCV000730946 RCV001158571 RCV001497957 RCV002233738

NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)

SNV
Germline

Chr7:96146654

Conflicting classifications of pathogenicity

Condition: not provided
Citrullinemia type II
Citrin deficiency
Late-onset citrullinemia
Citrullinemia, type II, adult-onset

Criteria Provided
Conflicting Classifications

rs_143877538

7 SubmittersRCV000731811 RCV000791115 RCV001084376 RCV001277321 RCV001526420

NM_054012.4(ASS1):c.174+1G>T

SNV
Germline

Chr9:130454374

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_748264993

5 SubmittersRCV000761224 RCV001376557

NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)

SNV
Germline

Chr9:130464127

Pathogenic

Citrullinemia type I
Citrullinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_201623252

5 SubmittersRCV000761475 RCV001386473 RCV003317358

NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)

SNV
Germline

Chr9:130499543

Conflicting classifications of pathogenicity

Citrullinemia
Citrullinemia type I
not specified

Criteria Provided
Conflicting Classifications

rs_1474017319

4 SubmittersRCV000800006 RCV001830721 RCV003317371

NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)

SNV
Germline

Chr7:96208898

Conflicting classifications of pathogenicity

Citrullinemia type II
Citrin deficiency
SLC25A13-related disorder

Criteria Provided
Conflicting Classifications

rs_188486690

3 SubmittersRCV001163308 RCV000872830 RCV003955696

NM_054012.4(ASS1):c.1056C>T (p.Ser352=)

SNV
Germline

Chr9:130494952

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_766889925

3 SubmittersRCV000871373 RCV001450064

NM_054012.4(ASS1):c.175-4G>A

SNV
Germline

Chr9:130458397

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_370817871

2 SubmittersRCV000871808 RCV001391336

NM_054012.4(ASS1):c.1083C>T (p.Leu361=)

SNV
Germline

Chr9:130494979

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_78564724

3 SubmittersRCV000952126 RCV001450087

NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)

SNV
Germline

Chr9:130499542

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_145288815

3 SubmittersRCV000884331 RCV001507156

NM_054012.4(ASS1):c.39C>T (p.Gly13=)

SNV
Germline

Chr9:130452267

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_769672308

2 SubmittersRCV000927057 RCV001450059

NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)

SNV
Germline

Chr7:96191197

Conflicting classifications of pathogenicity

Citrin deficiency
Citrullinemia type II
Late-onset citrullinemia

Criteria Provided
Conflicting Classifications

rs_200838637

3 SubmittersRCV000928878 RCV001161789 RCV001272332

NM_014251.3(SLC25A13):c.848+1G>T

SNV
Germline

Chr7:96189580

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrin deficiency
Citrullinemia, type II, adult-onset
SLC25A13-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_761370420

4 SubmittersRCV000987930 RCV001044508 RCV003473532 RCV003936241

NM_054012.4(ASS1):c.350G>A (p.Gly117Asp)

SNV
Germline

Chr9:130458576

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_745404241

2 SubmittersRCV001004328 RCV002549237

NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)

SNV
Germline

Chr9:130458578

Pathogenic

Citrullinemia type I
Citrullinemia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_775305020

6 SubmittersRCV001004329 RCV001376619 RCV002549238

NM_054012.4(ASS1):c.421-2A>C

SNV
Unknown

Chr9:130466723

Likely pathogenic

Citrullinemia type I

No Assertion Criteria Provided

rs_751930594

1 SubmittersRCV001004330

NM_054012.4(ASS1):c.469C>T (p.Arg157Cys)

SNV
Germline

Chr9:130466773

Pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_770585183

3 SubmittersRCV001004331 RCV001376579

NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)

SNV
Germline

Chr9:130476920

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_1043964127

4 SubmittersRCV001004333 RCV001585913 RCV002549239

NM_054012.4(ASS1):c.689-2A>C

SNV
Germline

Chr9:130479714

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_374586230

3 SubmittersRCV001004534 RCV002509589

NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter)

SNV
Germline

Chr9:130479786

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_1588495489

1 SubmittersRCV001004535

NM_054012.4(ASS1):c.774-2A>G

SNV
Germline

Chr9:130480383

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia
ASS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588496214

4 SubmittersRCV001004536 RCV001377855 RCV003425879

NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)

SNV
Germline

Chr7:96184406

Pathogenic/Likely pathogenic

Citrin deficiency
Citrullinemia
Citrullinemia type II
Citrullinemia, type II, adult-onset
Neonatal intrahepatic cholestasis due to citrin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1312396424

5 SubmittersRCV001061179 RCV001832548 RCV003226430 RCV003473677 RCV004584421

NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)

SNV
Germline

Chr9:130489340

Pathogenic/Likely pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_549085827

3 SubmittersRCV001042848 RCV001784584

NM_054012.4(ASS1):c.175-1119G>A

SNV
Germline

Chr9:130457282

Pathogenic/Likely pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_1488840592

4 SubmittersRCV001051566 RCV001827325

NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)

SNV
Germline

Chr7:96146589

Conflicting classifications of pathogenicity

Citrullinemia type II
Citrin deficiency

Criteria Provided
Conflicting Classifications

rs_201598915

2 SubmittersRCV001165295 RCV001474203

NM_014251.3(SLC25A13):c.633A>C (p.Thr211=)

SNV
Germline

Chr7:96191230

Conflicting classifications of pathogenicity

Citrullinemia type II
Citrin deficiency

Criteria Provided
Conflicting Classifications

rs_1794836188

2 SubmittersRCV001161791 RCV001477991

NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)

SNV
Germline

Chr7:96277318

Conflicting classifications of pathogenicity

Citrullinemia type II
Citrin deficiency

Criteria Provided
Conflicting Classifications

rs_777148254

2 SubmittersRCV001163309 RCV001481882

NM_014251.3(SLC25A13):c.1019-6T>C

SNV
Germline

Chr7:96184441

Conflicting classifications of pathogenicity

Citrullinemia type II
Citrin deficiency

Criteria Provided
Conflicting Classifications

rs_1207471194

2 SubmittersRCV001158570 RCV002070952

NM_054012.4(ASS1):c.564C>T (p.Ile188=)

SNV
Germline

Chr9:130470902

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_2297599

2 SubmittersRCV001169023 RCV001440809

NM_054012.4(ASS1):c.1074G>A (p.Val358=)

SNV
Germline

Chr9:130494970

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_1256882753

2 SubmittersRCV001166609 RCV001430279

NM_054012.4(ASS1):c.174+11G>A

SNV
Germline

Chr9:130454384

Conflicting classifications of pathogenicity

Citrullinemia type I
Citrullinemia

Criteria Provided
Conflicting Classifications

rs_771403927

2 SubmittersRCV001168285 RCV003759001

NM_054012.4(ASS1):c.420+1G>T

SNV
Germline

Chr9:130464168

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_1554983719

1 SubmittersRCV001192847

NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)

SNV
Germline

Chr7:96121952

Likely pathogenic

Citrin deficiency
Citrullinemia
Citrullinemia type II
Citrullinemia, type II, adult-onset

Criteria Provided
Multiple Submitters
No Conflicts

rs_548769905

4 SubmittersRCV001203153 RCV001833784 RCV003155369 RCV003473738

NM_054012.4(ASS1):c.356C>T (p.Thr119Ile)

SNV
Germline

Chr9:130458582

Pathogenic/Likely pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_1845507027

2 SubmittersRCV001209466 RCV003462700

NM_054012.4(ASS1):c.364-2A>T

SNV
Germline

Chr9:130464109

Likely pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_774231051

2 SubmittersRCV001222048 RCV003469382

NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)

SNV
Germline

Chr9:130489405

Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_771640767

3 SubmittersRCV001246468 RCV002241559

NM_054012.4(ASS1):c.830A>G (p.Lys277Arg)

SNV
Germline

Chr9:130480441

Pathogenic

Citrullinemia type I

No Assertion Criteria Provided

rs_1846142065

1 SubmittersRCV001250094

NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)

SNV
Germline

Chr9:130466783

Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Single Submitter

rs_969835605

2 SubmittersRCV001283858 RCV003230657

NM_054012.4(ASS1):c.839-2A>T

SNV
Germline

Chr9:130489331

Likely pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Single Submitter

rs_2118864015

2 SubmittersRCV001379731 RCV001831372

NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr9:130494944

Pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_2118880266

2 SubmittersRCV001383471 RCV003462992

NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter)

SNV
Germline

Chr9:130494914

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_2118880170

1 SubmittersRCV001580630

NM_054012.4(ASS1):c.815G>A (p.Arg272His)

SNV
Germline

Chr9:130480426

Pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_768215008

2 SubmittersRCV003226684 RCV003459808

NM_054012.4(ASS1):c.571G>T (p.Glu191Ter)

SNV
Germline

Chr9:130471489

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

rs_777828000

1 SubmittersRCV001780653

NM_054012.4(ASS1):c.904A>G (p.Met302Val)

SNV
Germline

Chr9:130489398

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified

Criteria Provided
Conflicting Classifications

rs_1846391609

2 SubmittersRCV001780654 RCV002282577

NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)

SNV
Germline

Chr9:130458512

Likely pathogenic

Citrullinemia
Citrullinemia type I
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131874080

3 SubmittersRCV002221688 RCV003485733 RCV004584443

NM_054012.4(ASS1):c.206T>C (p.Val69Ala)

SNV
Germline

Chr9:130458432

Conflicting classifications of pathogenicity

Citrullinemia
See cases
Citrullinemia type I

Criteria Provided
Conflicting Classifications

rs_771594651

4 SubmittersRCV002221689 RCV004584444 RCV003475100

NM_054012.4(ASS1):c.364-2A>G

SNV
Germline

Chr9:130464109

Pathogenic

Citrullinemia type I
Citrullinemia, type II, adult-onset

Criteria Provided
Multiple Submitters
No Conflicts

rs_774231051

2 SubmittersRCV001824208 RCV003987911

NM_054012.4(ASS1):c.174+1G>A

SNV
Germline

Chr9:130454374

Pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

rs_748264993

2 SubmittersRCV001949257 RCV003471179

NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)

SNV
Germline

Chr9:130489386

Conflicting classifications of pathogenicity

Citrullinemia
Citrullinemia type I
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

rs_1372482894

3 SubmittersRCV001972104 RCV003464265 RCV004542186

NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)

SNV
Germline

Chr7:96191109

Pathogenic/Likely pathogenic

Citrin deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency
Citrullinemia, type II, adult-onset
Citrullinemia type II
Citrullinemia, type II, adult-onset

Criteria Provided
Multiple Submitters
No Conflicts

rs_973986984

4 SubmittersRCV002007458 RCV002479573 RCV003388066 RCV003471124

NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)

SNV
Germline

Chr7:96171492

Likely pathogenic

Citrullinemia type II

Criteria Provided
Single Submitter

rs_1793999476

1 SubmittersRCV002266455

NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)

SNV
Unknown

Chr9:130466797

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV002309651

NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)

SNV
Unknown

Chr9:130494938

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV002309502

NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)

SNV
Germline

Chr9:130458497

Pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003058237 RCV003459721

NM_054012.4(ASS1):c.773+4A>C

SNV
Germline

Chr9:130479804

Pathogenic/Likely pathogenic

Citrullinemia
Citrullinemia type I

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002994081 RCV003464648

NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)

SNV
Germline

Chr7:96277305

Likely pathogenic

Citrullinemia type II

Criteria Provided
Single Submitter

1 SubmittersRCV003324175

NM_054012.4(ASS1):c.1193+1G>T

SNV
Unknown

Chr9:130499571

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003466399

NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)

SNV
Unknown

Chr9:130452297

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003463553

NM_054012.4(ASS1):c.364-2A>C

SNV
Unknown

Chr9:130464109

Pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003463555

NM_054012.4(ASS1):c.401C>A (p.Ser134Ter)

SNV
Unknown

Chr9:130464148

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003463563

NM_054012.4(ASS1):c.839-1G>A

SNV
Unknown

Chr9:130489332

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003474045

NM_054012.4(ASS1):c.815G>T (p.Arg272Leu)

SNV
Unknown

Chr9:130480426

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003466414

NM_054012.4(ASS1):c.269G>A (p.Gly90Asp)

SNV
Unknown

Chr9:130458495

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003466416

NM_054012.4(ASS1):c.431C>G (p.Pro144Arg)

SNV
Germline

Chr9:130466735

Conflicting classifications of pathogenicity

Citrullinemia type I
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003463573 RCV004526990

NM_054012.4(ASS1):c.174+1G>C

SNV
Unknown

Chr9:130454374

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003466427

NM_054012.4(ASS1):c.119A>T (p.Gln40Leu)

SNV
Unknown

Chr9:130454318

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003464667

NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)

SNV
Germline

Chr9:130471489

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472922 RCV003594697

NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)

SNV
Germline

Chr9:130476904

Pathogenic/Likely pathogenic

Citrullinemia type I
Citrullinemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004573204 RCV003759282

NM_054012.4(ASS1):c.175-2A>G

SNV
Germline

Chr9:130458399

Likely pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV003985971

NM_054012.4(ASS1):c.1194-2A>G

SNV
Unknown

Chr9:130500974

Pathogenic

Citrullinemia type I

Criteria Provided
Single Submitter

1 SubmittersRCV004573787