Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000159.4(GCDH):c.883T>C (p.Tyr295His)	SNV Germline	Chr19:12896940	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252094	rs_121434366	3 SubmittersRCV000002162 RCV000724276
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)	SNV Germline	Chr19:12899486	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252095	rs_121434367	13 SubmittersRCV000002163 RCV000224804
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	SNV Germline	Chr19:12896934	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA234085	rs_121434371	21 SubmittersRCV000002164 RCV000790796
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile)	SNV Germline	Chr19:12899471	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA252096	rs_121434368	2 SubmittersRCV000002165
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	SNV Germline	Chr19:12897824	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided Abnormality of metabolism/homeostasis Primary ciliary dyskinesia 29 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252097	rs_121434369	24 SubmittersRCV000002166 RCV000255833 RCV001813936 RCV003447469 RCV002512670
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)	SNV Germline	Chr19:12897713	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252098	rs_121434370	14 SubmittersRCV000002167 RCV000224528
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	SNV Germline	Chr19:12897818	Pathogenic	Glutaric aciduria, type 1 Condition: not provided GCDH-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252099	rs_121434372	15 SubmittersRCV000002169 RCV000224327 RCV004754233 RCV002512671
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	SNV Germline	Chr19:12896249	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220441	rs_121434373	13 SubmittersRCV000002170 RCV000078256
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)	SNV Germline	Chr19:12897777	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA220428	rs_398123190	5 SubmittersRCV000078248 RCV000812634
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)	SNV Germline	Chr19:12897787	Conflicting classifications of pathogenicity	not specified Condition: not provided Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA220430	rs_398123191	4 SubmittersRCV000244306 RCV000723510 RCV001283826
NM_000159.4(GCDH):c.428T>C (p.Val143Ala)	SNV Germline	Chr19:12893576	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA220434	rs_141456457	3 SubmittersRCV000078252 RCV000546348
NM_000159.4(GCDH):c.636-1G>A	SNV Germline	Chr19:12896204	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220440	rs_398123195	3 SubmittersRCV000180102 RCV000790781
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)	SNV Germline	Chr19:12897860	Pathogenic	Glutaric aciduria, type 1 Condition: not provided GCDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA234086	rs_147611168	15 SubmittersRCV000173984 RCV000790682 RCV003398804
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	SNV Germline	Chr19:12891965	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274425	rs_142967670	9 SubmittersRCV000169574 RCV000255875
NM_000159.4(GCDH):c.271+1G>A	SNV Germline	Chr19:12891975	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274289	rs_786204639	3 SubmittersRCV000169420 RCV000727581
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	SNV Germline	Chr19:12893531	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA274331	rs_755586631	9 SubmittersRCV000169460
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	SNV Germline	Chr19:12893564	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274128	rs_139851890	10 SubmittersRCV000169288 RCV000254928
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	SNV Germline	Chr19:12893630	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273961	rs_777201305	11 SubmittersRCV000169118 RCV000725818
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)	SNV Germline	Chr19:12896019	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA274254	rs_786204627	5 SubmittersRCV000169399
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	SNV Germline	Chr19:12896338	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274064	rs_766518430	13 SubmittersRCV000169226 RCV000480428
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	SNV Germline	Chr19:12897406	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA274169	rs_768925619	7 SubmittersRCV000169320
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)	SNV Germline	Chr19:12897767	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA274040	rs_150938052	8 SubmittersRCV000169204 RCV004017449
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	SNV Germline	Chr19:12897825	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA274253	rs_786204626	7 SubmittersRCV000169398
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)	SNV Germline	Chr19:12897859	Pathogenic	Glutaric aciduria, type 1 GCDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274339	rs_776082304	3 SubmittersRCV000169467 RCV003416053
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	SNV Germline	Chr19:12896244	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA274778	rs_786205862	7 SubmittersRCV000171558
NM_000159.4(GCDH):c.856C>T (p.Pro286Ser)	SNV Germline	Chr19:12896913	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA274776	rs_786205861	1 SubmittersRCV000171557
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)	SNV Germline	Chr19:12896942	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA274780	rs_139192015	3 SubmittersRCV000171559
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)	SNV Germline	Chr19:12897343	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA239095	rs_794726972	4 SubmittersRCV000419557 RCV000675103
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	SNV Germline	Chr19:12897833	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided GCDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274948	rs_141437721	13 SubmittersRCV000173982 RCV000414299 RCV003955020
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	SNV Germline	Chr19:12897788	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274950	rs_372983141	10 SubmittersRCV000173983 RCV000429838
NM_000159.4(GCDH):c.1244-2A>C	SNV Germline	Chr19:12899466	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274964	rs_199999619	11 SubmittersRCV000174223 RCV000521145
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)	SNV Germline	Chr19:12896058	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA275381	rs_149120354	8 SubmittersRCV000179723 RCV000724678
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile)	SNV Germline	Chr19:12897377	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA351605	rs_869025299	3 SubmittersRCV000207408
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)	SNV Germline	Chr19:12896395	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9234497	rs_763300541	4 SubmittersRCV000211677 RCV003235136 RCV004020587
NM_000159.4(GCDH):c.271+3G>A	SNV Germline	Chr19:12891977	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA9234285	rs_75430014	7 SubmittersRCV000224276 RCV001085163 RCV001699071
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	SNV Germline	Chr19:12897776	Pathogenic	Condition: not provided Glutaric aciduria, type 1 Hypomyelinating leukodystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA9234621	rs_752127949	12 SubmittersRCV000224565 RCV000778541 RCV002222454
NM_000159.4(GCDH):c.431A>C (p.Gln144Pro)	SNV Germline	Chr19:12893579	Pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA10581470	rs_878853154	1 SubmittersRCV000224360
NM_000159.4(GCDH):c.456C>G (p.Ile152Met)	SNV Germline	Chr19:12893604	Pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA10581471	rs_878853153	1 SubmittersRCV000224005
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)	SNV Germline	Chr19:12899523	Conflicting classifications of pathogenicity	not specified Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234699	rs_150271870	5 SubmittersRCV000244004 RCV000899021
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	SNV Germline	Chr19:12899485	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234692	rs_151201155	10 SubmittersRCV000327109 RCV000672042
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	SNV Germline	Chr19:12897764	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided GCDH-related disorder	Criteria Provided Conflicting Classifications	CA9234619	rs_567564095	9 SubmittersRCV000674015 RCV000521789 RCV003409413
NM_000159.4(GCDH):c.957-5T>C	SNV Germline	Chr19:12897298	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234576	rs_769694211	2 SubmittersRCV000382129 RCV005090365
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)	SNV Germline	Chr19:12893504	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA10606016	rs_886043840	8 SubmittersRCV000284260 RCV000671394
NM_000159.4(GCDH):c.471C>T (p.Ser157=)	SNV Germline	Chr19:12893619	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9234394	rs_146682905	6 SubmittersRCV000735103 RCV001087940 RCV003168488
NM_000159.4(GCDH):c.852+5G>A	SNV Germline	Chr19:12896426	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA10652264	rs_886054243	3 SubmittersRCV000665806 RCV002282120
NM_000159.4(GCDH):c.1083-10C>T	SNV Germline	Chr19:12897693	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234610	rs_756372984	2 SubmittersRCV000382523
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)	SNV Germline	Chr19:12891875	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16041963	rs_1006150317	3 SubmittersRCV000412281
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)	SNV Germline	Chr19:12891929	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041966	rs_898043081	6 SubmittersRCV000410967 RCV000760423
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter)	SNV Unknown	Chr19:12893487	Likely pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA16041967	rs_768836114	1 SubmittersRCV000412155
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)	SNV Germline	Chr19:12893530	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9234380	rs_752334462	4 SubmittersRCV000409274 RCV005241360
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)	SNV Germline	Chr19:12896000	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA16041969	rs_1057516715	2 SubmittersRCV000412058
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	SNV Germline	Chr19:12896018	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234423	rs_749452002	7 SubmittersRCV000409563
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	SNV Germline	Chr19:12896312	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041971	rs_1057516344	7 SubmittersRCV000411040 RCV001556801
NM_000159.4(GCDH):c.853-2A>G	SNV Germline	Chr19:12896908	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16041972	rs_1057517410	3 SubmittersRCV000410275
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)	SNV Germline	Chr19:12897789	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16041974	rs_778153326	3 SubmittersRCV000411911
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	SNV Germline	Chr19:12896333	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234481	rs_758503371	9 SubmittersRCV000416219 RCV000674290
NM_000159.4(GCDH):c.-35G>A	SNV Germline	Chr19:12891202	Conflicting classifications of pathogenicity	not specified Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA14711897	rs_545594924	2 SubmittersRCV000443628 RCV001124037
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	SNV Germline	Chr19:12893543	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16608038	rs_200639270	7 SubmittersRCV000444441 RCV000553882
NM_000159.4(GCDH):c.738G>A (p.Ser246=)	SNV Germline	Chr19:12896307	Conflicting classifications of pathogenicity	not specified Glutaric aciduria, type 1 GCDH-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9234478	rs_188548539	5 SubmittersRCV000420558 RCV000906189 RCV003942451 RCV004975504
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	SNV Germline	Chr19:12896994	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA9234549	rs_779315456	10 SubmittersRCV000421572 RCV000671835 RCV002524845
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)	SNV Germline	Chr19:12897763	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9234618	rs_142553521	10 SubmittersRCV000525178 RCV000676738 RCV002450990
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)	SNV Germline	Chr19:12897776	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16608043	rs_752127949	2 SubmittersRCV000430164 RCV001043306
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	SNV Germline	Chr19:12892125	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234312	rs_566417795	12 SubmittersRCV000485466 RCV000675080
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)	SNV Germline	Chr19:12896210	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404318457	rs_1131692030	7 SubmittersRCV000493776 RCV000668340
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)	SNV Germline	Chr19:12896949	Pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234539	rs_761765983	5 SubmittersRCV000494627 RCV000587206
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	SNV Germline	Chr19:12897409	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234589	rs_781477694	6 SubmittersRCV000494375 RCV000670238
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro)	SNV Germline	Chr19:12896938	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319364	rs_775606471	2 SubmittersRCV000495869
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp)	SNV Germline	Chr19:12892124	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404315788	rs_771602677	2 SubmittersRCV000539095 RCV003330762
NM_000159.4(GCDH):c.397G>A (p.Val133Met)	SNV Germline	Chr19:12893545	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317460	rs_746388510	4 SubmittersRCV000531618
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)	SNV Germline	Chr19:12896306	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234477	rs_754312389	3 SubmittersRCV000530261
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)	SNV Germline	Chr19:12897809	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA404321719	rs_1555751336	4 SubmittersRCV000539888
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)	SNV Germline	Chr19:12891971	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA305500200	rs_1025558859	4 SubmittersRCV000533495
NM_000159.4(GCDH):c.1064G>A (p.Arg355His)	SNV Germline	Chr19:12897410	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9234590	rs_748275416	5 SubmittersRCV000551437 RCV004592559
NM_000159.4(GCDH):c.642G>A (p.Thr214=)	SNV Germline	Chr19:12896211	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA9234459	rs_142806397	4 SubmittersRCV000634891 RCV000616616 RCV001718919
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln)	SNV Germline	Chr19:12896027	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234426	rs_745852738	2 SubmittersRCV000625783
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	SNV Germline	Chr19:12893627	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Tyrosinemia type III	Criteria Provided Multiple Submitters No Conflicts	CA404317639	rs_1176799813	5 SubmittersRCV000634888 RCV004544826
NM_000159.4(GCDH):c.1197C>T (p.His399=)	SNV Germline	Chr19:12897817	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9234632	rs_139344943	4 SubmittersRCV000634892 RCV002334078 RCV001546496
NM_000159.4(GCDH):c.881G>T (p.Arg294Leu)	SNV Germline	Chr19:12896938	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319365	rs_775606471	1 SubmittersRCV000634890
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	SNV Germline	Chr19:12892125	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404315814	rs_566417795	5 SubmittersRCV000634889
NM_000159.4(GCDH):c.1249C>G (p.His417Asp)	SNV Germline	Chr19:12899473	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404322111	rs_1405935475	1 SubmittersRCV000634886
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	SNV Germline	Chr19:12891965	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA305500199	rs_142967670	4 SubmittersRCV000634887
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)	SNV Germline	Chr19:12896339	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9234482	rs_751583656	7 SubmittersRCV000634885 RCV000735163
NM_000159.4(GCDH):c.3G>A (p.Met1Ile)	SNV Unknown	Chr19:12891307	Likely pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404312935	rs_1230368107	1 SubmittersRCV000666241
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)	SNV Germline	Chr19:12893545	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9234382	rs_746388510	4 SubmittersRCV000671234 RCV001766447 RCV003230569
NM_000159.4(GCDH):c.1A>C (p.Met1Leu)	SNV Germline	Chr19:12891305	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404312908	rs_1197426645	2 SubmittersRCV000668267
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)	SNV Germline	Chr19:12891895	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404315075	rs_1555749239	4 SubmittersRCV000665639
NM_000159.4(GCDH):c.272-2A>C	SNV Germline	Chr19:12892114	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404315694	rs_1555749369	3 SubmittersRCV000668794
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)	SNV Germline	Chr19:12892178	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404316147	rs_758137643	2 SubmittersRCV000670206
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	SNV Germline	Chr19:12897343	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404319938	rs_794726972	3 SubmittersRCV000672731
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	SNV Germline	Chr19:12897768	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234620	rs_764608975	5 SubmittersRCV000671613
NM_000159.4(GCDH):c.1082+1G>T	SNV Unknown	Chr19:12897429	Likely pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404320410	rs_1555751109	1 SubmittersRCV000672676
NM_000159.4(GCDH):c.1244-2A>G	SNV Germline	Chr19:12899466	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404322089	rs_199999619	3 SubmittersRCV000668317
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter)	SNV Unknown	Chr19:12897859	Likely pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404321890	rs_776082304	1 SubmittersRCV000669106
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	SNV Germline	Chr19:12899510	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234696	rs_745360675	6 SubmittersRCV000673919
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)	SNV Germline	Chr19:12899541	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404322318	rs_1555751995	2 SubmittersRCV000672866
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	SNV Germline	Chr19:12892145	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404315959	rs_1273164833	4 SubmittersRCV000665561
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	SNV Germline	Chr19:12893485	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404316740	rs_1555749853	3 SubmittersRCV000673679
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	SNV Germline	Chr19:12893564	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317502	rs_139851890	3 SubmittersRCV000665802
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)	SNV Germline	Chr19:12896022	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234425	rs_774526353	5 SubmittersRCV000672204
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	SNV Germline	Chr19:12896269	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA305500647	rs_964724051	6 SubmittersRCV000667870
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)	SNV Germline	Chr19:12897735	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404321329	rs_1555751240	4 SubmittersRCV000673771
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	SNV Unknown	Chr19:12897789	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234626	rs_778153326	2 SubmittersRCV000674107
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	SNV Germline	Chr19:12899522	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA305500987	rs_933624223	5 SubmittersRCV000672203
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)	SNV Germline	Chr19:12893585	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404317545	rs_1555749927	2 SubmittersRCV000671039
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)	SNV Germline	Chr19:12896209	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318453	rs_1468636851	2 SubmittersRCV000666652
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)	SNV Germline	Chr19:12896930	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404319333	rs_1328059662	3 SubmittersRCV000670161
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	SNV Germline	Chr19:12896967	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA9234545	rs_373203481	4 SubmittersRCV000670621 RCV005056414
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	SNV Germline	Chr19:12897361	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234582	rs_752234195	3 SubmittersRCV000671046
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)	SNV Unknown	Chr19:12897400	Pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404320240	rs_1555751089	1 SubmittersRCV000670197
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	SNV Unknown	Chr19:12897840	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321824	rs_1555751379	2 SubmittersRCV000667393
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)	SNV Germline	Chr19:12896320	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA305500648	rs_1008834111	2 SubmittersRCV000700730
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	SNV Germline	Chr19:12896971	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404319459	rs_1260580183	8 SubmittersRCV000705476 RCV003314640
NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser)	SNV Germline	Chr19:12897738	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321351	rs_1568429137	1 SubmittersRCV000696441
NM_000159.4(GCDH):c.386A>C (p.Glu129Ala)	SNV Germline	Chr19:12893534	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404317423	rs_1568425945	3 SubmittersRCV000685014 RCV004702316
NM_000159.4(GCDH):c.797T>C (p.Met266Thr)	SNV Germline	Chr19:12896366	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9234492	rs_771650894	4 SubmittersRCV000697955 RCV004719957
NM_000159.4(GCDH):c.701G>C (p.Arg234Pro)	SNV Germline	Chr19:12896270	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318675	rs_1203022386	2 SubmittersRCV000767352
NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly)	SNV Germline	Chr19:12897734	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404321325	rs_771924230	2 SubmittersRCV000767353
NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter)	SNV Germline	Chr19:12897860	Pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404321895	rs_147611168	1 SubmittersRCV000767354
NM_000159.4(GCDH):c.674G>C (p.Trp225Ser)	SNV Germline	Chr19:12896243	Likely pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404318576	rs_1568427678	1 SubmittersRCV000785883
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)	SNV Germline	Chr19:12893516	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Abnormality of metabolism/homeostasis GCDH-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA9234379	rs_780976048	9 SubmittersRCV001212105 RCV001814234 RCV004754563 RCV003442069
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	SNV Germline	Chr19:12895996	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA9234419	rs_200785120	6 SubmittersRCV000824091 RCV003987715
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)	SNV Germline	Chr19:12896039	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 GCDH-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9234429	rs_576948027	6 SubmittersRCV000818955 RCV003892753 RCV004721635
NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)	SNV Germline	Chr19:12896248	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9234462	rs_368357056	3 SubmittersRCV000815377 RCV004629346
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)	SNV Germline	Chr19:12896351	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234487	rs_777494547	5 SubmittersRCV000803410
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	SNV Germline	Chr19:12896401	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9234499	rs_751742575	6 SubmittersRCV000796665 RCV003424341
NM_000159.4(GCDH):c.1182T>G (p.Ile394Met)	SNV Germline	Chr19:12897802	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321678	rs_1599618968	1 SubmittersRCV000816822
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)	SNV Germline	Chr19:12899522	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404322251	rs_933624223	3 SubmittersRCV000817710
NM_000159.4(GCDH):c.91+5G>A	SNV Germline	Chr19:12891400	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA305500159	rs_952356983	5 SubmittersRCV000802276 RCV004721614
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr)	SNV Germline	Chr19:12897827	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404321785	rs_1599619080	2 SubmittersRCV000852302
NM_000159.4(GCDH):c.627C>T (p.Thr209=)	SNV Germline	Chr19:12896113	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9234443	rs_143172809	5 SubmittersRCV000872004 RCV002354672 RCV001726355
NM_000159.4(GCDH):c.38G>A (p.Arg13His)	SNV Germline	Chr19:12891342	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided GCDH-related disorder	Criteria Provided Conflicting Classifications	CA9234173	rs_550100640	6 SubmittersRCV000910751 RCV003229000 RCV003950728
NM_000159.4(GCDH):c.209C>A (p.Thr70Asn)	SNV Germline	Chr19:12891912	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9234274	rs_770537412	3 SubmittersRCV000941197 RCV003233885
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr)	SNV Unknown	Chr19:12897762	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA305500777	rs_772654647	1 SubmittersRCV000990157
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys)	SNV Unknown	Chr19:12897842	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321827	rs_1599619180	1 SubmittersRCV000990158
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter)	SNV Germline	Chr19:12896953	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404319422	rs_1599616676	2 SubmittersRCV001004412
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys)	SNV Germline	Chr19:12891853	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404314835	rs_1970564149	1 SubmittersRCV001066989
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)	SNV Germline	Chr19:12893492	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234371	rs_776758971	2 SubmittersRCV001070239
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys)	SNV Germline	Chr19:12893554	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317481	rs_1970604182	2 SubmittersRCV001058595
NM_000159.4(GCDH):c.478C>T (p.Gln160Ter)	SNV Germline	Chr19:12893626	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317635	rs_1970608600	2 SubmittersRCV001057307
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp)	SNV Germline	Chr19:12893629	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317643	rs_1173575355	3 SubmittersRCV001054587
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)	SNV Germline	Chr19:12896224	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404318505	rs_1970675055	2 SubmittersRCV001060570
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)	SNV Germline	Chr19:12896227	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234461	rs_375357230	2 SubmittersRCV001041052
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)	SNV Germline	Chr19:12896345	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234484	rs_367699815	4 SubmittersRCV001062215
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)	SNV Germline	Chr19:12896937	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404319361	rs_1864390545	4 SubmittersRCV001066990 RCV005256740
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	SNV Germline	Chr19:12896938	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234536	rs_775606471	5 SubmittersRCV001066080
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)	SNV Germline	Chr19:12897391	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404320190	rs_1257292639	3 SubmittersRCV001047255
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val)	SNV Germline	Chr19:12897753	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404321435	rs_1970719648	2 SubmittersRCV001054157
NM_000159.4(GCDH):c.876C>T (p.Asn292=)	SNV Germline	Chr19:12896933	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA505648348	rs_1438245420	2 SubmittersRCV001127092
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)	SNV Germline	Chr19:12897002	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA305500711	rs_138133019	2 SubmittersRCV001127094
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)	SNV Germline	Chr19:12896249	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234463	rs_121434373	2 SubmittersRCV001223617
NM_000159.4(GCDH):c.796A>G (p.Met266Val)	SNV Germline	Chr19:12896365	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404318996	rs_745357523	2 SubmittersRCV001214424
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)	SNV Germline	Chr19:12896942	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404319376	rs_139192015	2 SubmittersRCV001214878
NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr)	SNV Germline	Chr19:12897723	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321274	rs_1970718775	1 SubmittersRCV001224580
NM_000159.4(GCDH):c.127+1G>A	SNV Germline	Chr19:12891523	Pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404314529	rs_1473339589	3 SubmittersRCV001212983 RCV002245875
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro)	SNV Germline	Chr19:12891948	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404315436	rs_1568424857	2 SubmittersRCV001226285 RCV004800735
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys)	SNV Germline	Chr19:12893561	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234385	rs_747370741	2 SubmittersRCV001238237
NM_000159.4(GCDH):c.848T>C (p.Leu283Pro)	SNV Germline	Chr19:12896417	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404319196	rs_1970682343	3 SubmittersRCV001228058
NM_000159.4(GCDH):c.940C>T (p.Gln314Ter)	SNV Germline	Chr19:12896997	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319582	rs_1970696255	1 SubmittersRCV001231954
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)	SNV Germline	Chr19:12891860	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234268	rs_768532620	2 SubmittersRCV001245375
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)	SNV Germline	Chr19:12897003	Conflicting classifications of pathogenicity	Intellectual disability Glutaric aciduria, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9234551	rs_370059118	5 SubmittersRCV001252002 RCV001247144 RCV004034887
NM_000159.4(GCDH):c.852+1G>A	SNV Germline	Chr19:12896422	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319211	rs_1367214521	1 SubmittersRCV001238126
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)	SNV Germline	Chr19:12897848	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234637	rs_760155287	5 SubmittersRCV001255208
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)	SNV Unknown	Chr19:12891519	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404314488	rs_1252148225	1 SubmittersRCV001264318
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)	SNV Germline	Chr19:12891852	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 GCDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404314826	rs_1970564107	3 SubmittersRCV001264319 RCV003963164
NM_000159.4(GCDH):c.229G>T (p.Glu77Ter)	SNV Unknown	Chr19:12891932	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404315329	rs_1302922191	1 SubmittersRCV001264320
NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)	SNV Unknown	Chr19:12892148	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404315986	rs_976647697	1 SubmittersRCV001264321
NM_000159.4(GCDH):c.635G>A (p.Trp212Ter)	SNV Unknown	Chr19:12896121	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318395	rs_1970671544	1 SubmittersRCV001264322
NM_000159.4(GCDH):c.907G>T (p.Gly303Ter)	SNV Unknown	Chr19:12896964	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319445	rs_1970694961	1 SubmittersRCV001264323
NM_000159.4(GCDH):c.988C>T (p.Gln330Ter)	SNV Unknown	Chr19:12897334	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319898	rs_1970707032	1 SubmittersRCV001264324
NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter)	SNV Unknown	Chr19:12897413	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404320309	rs_1970710230	1 SubmittersRCV001264325
NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn)	SNV Germline	Chr19:12897779	Likely pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided	CA404321558	rs_1970720537	1 SubmittersRCV001280840
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)	SNV Germline	Chr19:12892144	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234320	rs_759838598	2 SubmittersRCV001309614
NM_000159.4(GCDH):c.263G>A (p.Arg88His)	SNV Germline	Chr19:12891966	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404315547	rs_1970568682	3 SubmittersRCV001311168 RCV001780244
NM_000159.4(GCDH):c.1243+1G>T	SNV Germline	Chr19:12897864	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404321907	rs_1970723970	2 SubmittersRCV001329661
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)	SNV Germline	Chr19:12891906	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA404315132	rs_1417389111	2 SubmittersRCV001376891
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg)	SNV Germline	Chr19:12895997	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317913	rs_2145950047	2 SubmittersRCV001379086
NM_000159.4(GCDH):c.1083-2A>C	SNV Germline	Chr19:12897701	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321160	rs_2145954766	1 SubmittersRCV001377797
NM_000159.4(GCDH):c.91G>T (p.Glu31Ter)	SNV Germline	Chr19:12891395	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404313425	rs_1374072630	1 SubmittersRCV001382602
NM_000159.4(GCDH):c.389T>C (p.Leu130Pro)	SNV Germline	Chr19:12893537	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404317438	rs_1254101861	1 SubmittersRCV001382601
NM_000159.4(GCDH):c.463T>C (p.Tyr155His)	SNV Germline	Chr19:12893611	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317601	rs_1482995062	2 SubmittersRCV001387790
NM_000159.4(GCDH):c.905T>C (p.Leu302Pro)	SNV Germline	Chr19:12896962	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319441	rs_2145952877	1 SubmittersRCV001385538
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln)	SNV Germline	Chr19:12897777	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234622	rs_398123190	3 SubmittersRCV001385539
NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg)	SNV Germline	Chr19:12897788	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404321607	rs_372983141	2 SubmittersRCV001382324
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)	SNV Germline	Chr19:12897795	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404321639	rs_2145955095	2 SubmittersRCV001390438
NM_000159.4(GCDH):c.92-7C>T	SNV Germline	Chr19:12891480	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9234204	rs_538220975	2 SubmittersRCV001466399 RCV001726562
NM_000159.4(GCDH):c.505+1G>A	SNV Germline	Chr19:12893654	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA305500360	rs_968628450	3 SubmittersRCV001506972
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)	SNV Germline	Chr19:12891851	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9234265	rs_758646992	3 SubmittersRCV001832767 RCV001563484
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)	SNV Germline	Chr19:12896216	Conflicting classifications of pathogenicity	Condition: not provided not specified Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA404318479	rs_1449724176	6 SubmittersRCV001564950 RCV002271661 RCV001832769
NM_000159.4(GCDH):c.803G>T (p.Gly268Val)	SNV Germline	Chr19:12896372	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234495	rs_765723076	2 SubmittersRCV001730140
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter)	SNV Germline	Chr19:12891853	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404314833	rs_1970564149	3 SubmittersRCV001806292
NM_000159.4(GCDH):c.857C>T (p.Pro286Leu)	SNV Germline	Chr19:12896914	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404319279	rs_1254396827	2 SubmittersRCV001899329 RCV005057726
NM_000159.4(GCDH):c.262C>G (p.Arg88Gly)	SNV Germline	Chr19:12891965	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404315542	rs_142967670	2 SubmittersRCV001990342
NM_000159.4(GCDH):c.394C>T (p.Arg132Trp)	SNV Germline	Chr19:12893542	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234381	rs_372429120	1 SubmittersRCV002036813
NM_000159.4(GCDH):c.446T>C (p.Met149Thr)	SNV Germline	Chr19:12893594	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404317564	rs_2145944429	4 SubmittersRCV001960623 RCV005406229
NM_000159.4(GCDH):c.583G>A (p.Ala195Thr)	SNV Germline	Chr19:12896069	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404318183	rs_2145950460	3 SubmittersRCV001945339 RCV003154220
NM_000159.4(GCDH):c.680G>T (p.Arg227Leu)	SNV Germline	Chr19:12896249	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404318600	rs_121434373	2 SubmittersRCV001996365 RCV004699627
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)	SNV Germline	Chr19:12896995	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234550	rs_746220312	7 SubmittersRCV001953810
NM_000159.4(GCDH):c.466G>A (p.Gly156Ser)	SNV Germline	Chr19:12893614	Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9234393	rs_767351827	2 SubmittersRCV002036913 RCV004729058
NM_000159.4(GCDH):c.1082+2T>C	SNV Germline	Chr19:12897430	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404320414	rs_2145954110	2 SubmittersRCV002017219
NM_000159.4(GCDH):c.535C>G (p.Leu179Val)	SNV Germline	Chr19:12896021	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317998	rs_201714645	2 SubmittersRCV002012007
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln)	SNV Germline	Chr19:12896270	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404318678	rs_1203022386	3 SubmittersRCV002022592 RCV004690225
NM_000159.4(GCDH):c.511G>T (p.Gly171Trp)	SNV Germline	Chr19:12895997	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317915	rs_2145950047	2 SubmittersRCV001869903
NM_000159.4(GCDH):c.398T>G (p.Val133Gly)	SNV Germline	Chr19:12893546	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234383	rs_772549903	1 SubmittersRCV002022187
NM_000159.4(GCDH):c.1199T>C (p.Val400Ala)	SNV Germline	Chr19:12897819	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321763	rs_2145955176	1 SubmittersRCV002038289
NM_000159.4(GCDH):c.998A>G (p.Gln333Arg)	SNV Germline	Chr19:12897344	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319945	rs_2145953853	1 SubmittersRCV001942078
NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg)	SNV Germline	Chr19:12897743	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified GCDH-related disorder	Criteria Provided Conflicting Classifications	CA404321382	rs_1348974766	3 SubmittersRCV001962908 RCV004782835 RCV004731214
NM_000159.4(GCDH):c.1244-1G>A	SNV Germline	Chr19:12899467	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404322093	rs_1160507620	3 SubmittersRCV001942026
NM_000159.4(GCDH):c.278A>T (p.His93Leu)	SNV Germline	Chr19:12892122	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA305500208	rs_398123192	1 SubmittersRCV002040761
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu)	SNV Germline	Chr19:12896402	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA9234500	rs_755054282	3 SubmittersRCV002031075 RCV003317573
NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly)	SNV Germline	Chr19:12897831	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321800	rs_1432619357	1 SubmittersRCV001957618
NM_000159.4(GCDH):c.1176T>G (p.Asn392Lys)	SNV Germline	Chr19:12897796	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404321643	rs_2145955099	2 SubmittersRCV001960526 RCV005238110
NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys)	SNV Germline	Chr19:12893486	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404316751	rs_1970602621	1 SubmittersRCV001961651
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)	SNV Germline	Chr19:12896252	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA404318610	rs_1970675873	4 SubmittersRCV001901565 RCV004719195 RCV003490927
NM_000159.4(GCDH):c.275T>G (p.Phe92Cys)	SNV Germline	Chr19:12892119	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404315727	rs_2145940591	1 SubmittersRCV001963145
NM_000159.4(GCDH):c.1209C>G (p.His403Gln)	SNV Germline	Chr19:12897829	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321795	rs_747746632	1 SubmittersRCV001966702
NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter)	SNV Germline	Chr19:12891925	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404315260	rs_754378464	1 SubmittersRCV001956566
NM_000159.4(GCDH):c.467G>T (p.Gly156Val)	SNV Germline	Chr19:12893615	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA305500357	rs_1034155331	1 SubmittersRCV001890736
NM_000159.4(GCDH):c.775T>C (p.Ser259Pro)	SNV Germline	Chr19:12896344	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404318911	rs_2145951375	2 SubmittersRCV001890759
NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr)	SNV Germline	Chr19:12897752	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404321429	rs_1442597198	3 SubmittersRCV001963579 RCV004690204
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)	SNV Germline	Chr19:12896275	Pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234467	rs_747920711	3 SubmittersRCV002244352 RCV003093945
NM_000159.4(GCDH):c.424A>C (p.Ser142Arg)	SNV Germline	Chr19:12893572	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404317517	rs_2145944277	1 SubmittersRCV002249052
NM_000159.4(GCDH):c.671T>G (p.Val224Gly)	SNV Germline	Chr19:12896240	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318568	rs_1970675584	1 SubmittersRCV002250009
NM_000159.4(GCDH):c.541G>A (p.Glu181Lys)	SNV Germline	Chr19:12896027	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318015	rs_745852738	1 SubmittersRCV002272778
NM_000159.4(GCDH):c.572T>G (p.Met191Arg)	SNV Germline	Chr19:12896058	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318138	rs_149120354	1 SubmittersRCV002284000
NM_000159.4(GCDH):c.650C>T (p.Pro217Leu)	SNV Germline	Chr19:12896219	Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404318490	rs_2512573365	2 SubmittersRCV002284934 RCV003464435
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)	SNV Germline	Chr19:12893590	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317554	rs_1003611285	4 SubmittersRCV003050529
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)	SNV Germline	Chr19:12893612	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404317604	rs_2512568101	2 SubmittersRCV003064557
NM_000159.4(GCDH):c.713T>C (p.Leu238Pro)	SNV Germline	Chr19:12896282	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318710	rs_2512573503	1 SubmittersRCV003064559
NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)	SNV Germline	Chr19:12896402	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319143	rs_755054282	1 SubmittersRCV003064561
NM_000159.4(GCDH):c.901G>A (p.Val301Met)	SNV Germline	Chr19:12896958	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA9234544	rs_751186776	3 SubmittersRCV003050530 RCV003479465
NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)	SNV Germline	Chr19:12897839	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321821	rs_1568429421	2 SubmittersRCV003041360
NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys)	SNV Germline	Chr19:12897858	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321888	rs_2512577883	1 SubmittersRCV003041361
NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)	SNV Germline	Chr19:12896021	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234424	rs_201714645	3 SubmittersRCV003076183
NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)	SNV Germline	Chr19:12891960	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404315510	rs_1970568352	3 SubmittersRCV003084916 RCV005059156
NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)	SNV Germline	Chr19:12891947	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404315421	rs_1333480915	1 SubmittersRCV002741180
NM_000159.4(GCDH):c.1214T>C (p.Met405Thr)	SNV Germline	Chr19:12897834	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321807	rs_2512577776	1 SubmittersRCV002796465
NM_000159.4(GCDH):c.659A>T (p.Asp220Val)	SNV Germline	Chr19:12896228	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318523	rs_2512573372	1 SubmittersRCV002796534
NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser)	SNV Germline	Chr19:12897736	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321336	rs_2512577314	1 SubmittersRCV002875995
NM_000159.4(GCDH):c.204G>C (p.Arg68Ser)	SNV Germline	Chr19:12891907	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404315140	rs_956812784	1 SubmittersRCV002847202
NM_000159.4(GCDH):c.158C>T (p.Pro53Leu)	SNV Germline	Chr19:12891861	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404314897	rs_2512564831	1 SubmittersRCV002872645
NM_000159.4(GCDH):c.788T>C (p.Met263Thr)	SNV Germline	Chr19:12896357	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318958	rs_2512573674	1 SubmittersRCV002942168
NM_000159.4(GCDH):c.127+1G>T	SNV Germline	Chr19:12891523	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404314524	rs_1473339589	2 SubmittersRCV003021570
NM_000159.4(GCDH):c.1082+1G>A	SNV Germline	Chr19:12897429	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404320408	rs_1555751109	1 SubmittersRCV003021571
NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)	SNV Germline	Chr19:12896248	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318596	rs_368357056	1 SubmittersRCV003031954
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)	SNV Germline	Chr19:12896205	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA404318431	rs_2512573326	2 SubmittersRCV003466004 RCV002840398
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)	SNV Germline	Chr19:12891851	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404314819	rs_758646992	2 SubmittersRCV003324309
NM_000159.4(GCDH):c.1A>G (p.Met1Val)	SNV Germline	Chr19:12891305	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404312893	rs_1197426645	2 SubmittersRCV003324906 RCV005029983
NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)	SNV Germline	Chr19:12896047	Pathogenic/Likely pathogenic	GCDH-related disorder Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234432	rs_377580992	2 SubmittersRCV003397531 RCV003603160
NM_000159.4(GCDH):c.1249C>T (p.His417Tyr)	SNV Unknown	Chr19:12899473	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404322112	rs_1405935475	1 SubmittersRCV003461676
NM_000159.4(GCDH):c.339T>A (p.Tyr113Ter)	SNV Unknown	Chr19:12893487	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234370	rs_768836114	1 SubmittersRCV003461678
NM_000159.4(GCDH):c.957-1G>C	SNV Unknown	Chr19:12897302	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319745	rs_2145953759	1 SubmittersRCV003461679
NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)	SNV Germline	Chr19:12897307	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404319764	rs_773310063	2 SubmittersRCV003468261
NM_000159.4(GCDH):c.853-1G>A	SNV Unknown	Chr19:12896909	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319257	rs_2512574792	1 SubmittersRCV003468262
NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)	SNV Unknown	Chr19:12893559	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404317492	rs_780437859	1 SubmittersRCV003461682
NM_000159.4(GCDH):c.272-2A>G	SNV Unknown	Chr19:12892114	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404315697	rs_1555749369	1 SubmittersRCV003461683
NM_000159.4(GCDH):c.1093G>T (p.Glu365Ter)	SNV Unknown	Chr19:12897713	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321220	rs_121434370	1 SubmittersRCV003461684
NM_000159.4(GCDH):c.175C>T (p.Gln59Ter)	SNV Unknown	Chr19:12891878	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404314995	rs_2512564904	1 SubmittersRCV003461685
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)	SNV Germline	Chr19:12891872	Conflicting classifications of pathogenicity	not specified Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA9234269	rs_776643576	2 SubmittersRCV003490904 RCV003603175
NM_000159.4(GCDH):c.1000A>T (p.Lys334Ter)	SNV Germline	Chr19:12897346	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319957	rs_2512576016	1 SubmittersRCV003499271
NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)	SNV Germline	Chr19:12897394	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404320214	rs_780441925	1 SubmittersRCV003499878
NM_000159.4(GCDH):c.215G>T (p.Arg72Leu)	SNV Germline	Chr19:12891918	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA404315226	rs_759076157	3 SubmittersRCV003497351 RCV005419657 RCV005241538
NM_000159.4(GCDH):c.658G>T (p.Asp220Tyr)	SNV Germline	Chr19:12896227	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318517	rs_375357230	1 SubmittersRCV003497352
NM_000159.4(GCDH):c.787A>G (p.Met263Val)	SNV Germline	Chr19:12896356	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318955	rs_1970680774	1 SubmittersRCV003497353
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)	SNV Germline	Chr19:12896983	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA404319538	rs_1247712895	2 SubmittersRCV003497354
NM_000159.4(GCDH):c.1168G>T (p.Gly390Trp)	SNV Germline	Chr19:12897788	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321613	rs_372983141	1 SubmittersRCV003497355
NM_000159.4(GCDH):c.1193A>G (p.Tyr398Cys)	SNV Germline	Chr19:12897813	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404321742	rs_2512577655	3 SubmittersRCV003497356 RCV005241539
NM_000159.4(GCDH):c.1243+1G>C	SNV Germline	Chr19:12897864	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321906	rs_1970723970	1 SubmittersRCV003497357
NM_000159.4(GCDH):c.1274G>T (p.Gly425Val)	SNV Germline	Chr19:12899498	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404322173	rs_2145959018	1 SubmittersRCV003497358
NM_000159.4(GCDH):c.957-1G>T	SNV Germline	Chr19:12897302	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319748	rs_2145953759	1 SubmittersRCV003498743
NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)	SNV Germline	Chr19:12891504	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404314371	rs_2512563894	1 SubmittersRCV003499499
NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)	SNV Germline	Chr19:12893497	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404317306	rs_2512567826	1 SubmittersRCV003603234
NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)	SNV Germline	Chr19:12896333	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404318879	rs_758503371	3 SubmittersRCV003603235
NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)	SNV Germline	Chr19:12897806	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321699	rs_2512577630	1 SubmittersRCV003603443
NM_000159.4(GCDH):c.334+1G>A	SNV Germline	Chr19:12892179	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404316148	rs_2512565797	1 SubmittersRCV003602549
NM_000159.4(GCDH):c.878C>T (p.Ala293Val)	SNV Germline	Chr19:12896935	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404319358	rs_2512574882	1 SubmittersRCV003602591
NM_000159.4(GCDH):c.1204C>G (p.Arg402Gly)	SNV Germline	Chr19:12897824	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321777	rs_121434369	1 SubmittersRCV003603751
NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)	SNV Germline	Chr19:12897406	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404320276	rs_768925619	1 SubmittersRCV003603772
NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)	SNV Germline	Chr19:12895996	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234418	rs_200785120	1 SubmittersRCV003603546
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)	SNV Germline	Chr19:12896332	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318877	rs_1479265777	1 SubmittersRCV003603992
NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)	SNV Germline	Chr19:12897421	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404320367	rs_1237120625	1 SubmittersRCV003821067
NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)	SNV Germline	Chr19:12896040	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404318065	rs_2512572818	1 SubmittersRCV003838014
NM_000159.4(GCDH):c.445A>G (p.Met149Val)	SNV Germline	Chr19:12893593	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404317560	rs_2512568075	1 SubmittersRCV003835110
NM_000159.4(GCDH):c.167T>C (p.Leu56Pro)	SNV Germline	Chr19:12891870	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404314937	rs_1265030225	2 SubmittersRCV003864224 RCV005433485
NM_000159.4(GCDH):c.367T>C (p.Tyr123His)	SNV Germline	Chr19:12893515	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA9234378	rs_754741320	1 SubmittersRCV003873989
NM_000159.4(GCDH):c.1208A>G (p.His403Arg)	SNV Germline	Chr19:12897828	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404321791	rs_2512577738	1 SubmittersRCV003989055
NM_000159.4(GCDH):c.1060G>C (p.Gly354Arg)	SNV Germline	Chr19:12897406	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA404320273	rs_768925619	1 SubmittersRCV004527529
NM_000159.4(GCDH):c.1205G>C (p.Arg402Pro)	SNV Germline	Chr19:12897825	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications	CA404321778	rs_786204626	3 SubmittersRCV004527068
NM_000159.4(GCDH):c.1119T>G (p.Asn373Lys)	SNV Germline	Chr19:12897739	Conflicting classifications of pathogenicity	not specified Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004690868 RCV005023634
NM_000159.4(GCDH):c.1244-14T>G	SNV Germline	Chr19:12899454	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004821093
NM_000159.4(GCDH):c.333A>G (p.Lys111=)	SNV Germline	Chr19:12892177	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004823551
NM_000159.4(GCDH):c.115C>T (p.Gln39Ter)	SNV Germline	Chr19:12891510	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005026374
NM_000159.4(GCDH):c.442G>T (p.Val148Phe)	SNV Germline	Chr19:12893590	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005026377
NM_000159.4(GCDH):c.852+1G>C	SNV Germline	Chr19:12896422	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005026379
NM_000159.4(GCDH):c.911C>T (p.Ala304Val)	SNV Germline	Chr19:12896968	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005026380
NM_000159.4(GCDH):c.1294C>T (p.Gln432Ter)	SNV Germline	Chr19:12899518	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005026381
NM_000159.4(GCDH):c.1016T>G (p.Met339Arg)	SNV Germline	Chr19:12897362	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005113391
NM_000159.4(GCDH):c.92-2A>C	SNV Germline	Chr19:12891485	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005123229
NM_000159.4(GCDH):c.167T>G (p.Leu56Arg)	SNV Germline	Chr19:12891870	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005154579
NM_000159.4(GCDH):c.335-2A>G	SNV Germline	Chr19:12893481	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005233237
NM_000159.4(GCDH):c.1169G>A (p.Gly390Glu)	SNV Germline	Chr19:12897789	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005409435
NM_000159.4(GCDH):c.263G>C (p.Arg88Pro)	SNV Germline	Chr19:12891966	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV005418441

NM_000159.4(GCDH):c.883T>C (p.Tyr295His)

SNV
Germline

Chr19:12896940

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252094

rs_121434366

3 SubmittersRCV000002162 RCV000724276

NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)

SNV
Germline

Chr19:12899486

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252095

rs_121434367

13 SubmittersRCV000002163 RCV000224804

NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)

SNV
Germline

Chr19:12896934

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA234085

rs_121434371

21 SubmittersRCV000002164 RCV000790796

NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile)

SNV
Germline

Chr19:12899471

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA252096

rs_121434368

2 SubmittersRCV000002165

NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)

SNV
Germline

Chr19:12897824

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided
Abnormality of metabolism/homeostasis
Primary ciliary dyskinesia 29
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252097

rs_121434369

24 SubmittersRCV000002166 RCV000255833 RCV001813936 RCV003447469 RCV002512670

NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)

SNV
Germline

Chr19:12897713

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252098

rs_121434370

14 SubmittersRCV000002167 RCV000224528

NM_000159.4(GCDH):c.1198G>A (p.Val400Met)

SNV
Germline

Chr19:12897818

Pathogenic

Glutaric aciduria, type 1
Condition: not provided
GCDH-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252099

rs_121434372

15 SubmittersRCV000002169 RCV000224327 RCV004754233 RCV002512671

NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)

SNV
Germline

Chr19:12896249

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220441

rs_121434373

13 SubmittersRCV000002170 RCV000078256

NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)

SNV
Germline

Chr19:12897777

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA220428

rs_398123190

5 SubmittersRCV000078248 RCV000812634

NM_000159.4(GCDH):c.1167G>A (p.Leu389=)

SNV
Germline

Chr19:12897787

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA220430

rs_398123191

4 SubmittersRCV000244306 RCV000723510 RCV001283826

NM_000159.4(GCDH):c.428T>C (p.Val143Ala)

SNV
Germline

Chr19:12893576

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA220434

rs_141456457

3 SubmittersRCV000078252 RCV000546348

NM_000159.4(GCDH):c.636-1G>A

SNV
Germline

Chr19:12896204

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220440

rs_398123195

3 SubmittersRCV000180102 RCV000790781

NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)

SNV
Germline

Chr19:12897860

Pathogenic

Glutaric aciduria, type 1
Condition: not provided
GCDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA234086

rs_147611168

15 SubmittersRCV000173984 RCV000790682 RCV003398804

NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)

SNV
Germline

Chr19:12891965

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274425

rs_142967670

9 SubmittersRCV000169574 RCV000255875

NM_000159.4(GCDH):c.271+1G>A

SNV
Germline

Chr19:12891975

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274289

rs_786204639

3 SubmittersRCV000169420 RCV000727581

NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)

SNV
Germline

Chr19:12893531

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274331

rs_755586631

9 SubmittersRCV000169460

NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)

SNV
Germline

Chr19:12893564

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274128

rs_139851890

10 SubmittersRCV000169288 RCV000254928

NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)

SNV
Germline

Chr19:12893630

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273961

rs_777201305

11 SubmittersRCV000169118 RCV000725818

NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)

SNV
Germline

Chr19:12896019

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274254

rs_786204627

5 SubmittersRCV000169399

NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)

SNV
Germline

Chr19:12896338

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274064

rs_766518430

13 SubmittersRCV000169226 RCV000480428

NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)

SNV
Germline

Chr19:12897406

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274169

rs_768925619

7 SubmittersRCV000169320

NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)

SNV
Germline

Chr19:12897767

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA274040

rs_150938052

8 SubmittersRCV000169204 RCV004017449

NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)

SNV
Germline

Chr19:12897825

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274253

rs_786204626

7 SubmittersRCV000169398

NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)

SNV
Germline

Chr19:12897859

Pathogenic

Glutaric aciduria, type 1
GCDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274339

rs_776082304

3 SubmittersRCV000169467 RCV003416053

NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)

SNV
Germline

Chr19:12896244

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274778

rs_786205862

7 SubmittersRCV000171558

NM_000159.4(GCDH):c.856C>T (p.Pro286Ser)

SNV
Germline

Chr19:12896913

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA274776

rs_786205861

1 SubmittersRCV000171557

NM_000159.4(GCDH):c.885C>T (p.Tyr295=)

SNV
Germline

Chr19:12896942

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA274780

rs_139192015

3 SubmittersRCV000171559

NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)

SNV
Germline

Chr19:12897343

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA239095

rs_794726972

4 SubmittersRCV000419557 RCV000675103

NM_000159.4(GCDH):c.1213A>G (p.Met405Val)

SNV
Germline

Chr19:12897833

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided
GCDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274948

rs_141437721

13 SubmittersRCV000173982 RCV000414299 RCV003955020

NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)

SNV
Germline

Chr19:12897788

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274950

rs_372983141

10 SubmittersRCV000173983 RCV000429838

NM_000159.4(GCDH):c.1244-2A>C

SNV
Germline

Chr19:12899466

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274964

rs_199999619

11 SubmittersRCV000174223 RCV000521145

NM_000159.4(GCDH):c.572T>C (p.Met191Thr)

SNV
Germline

Chr19:12896058

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275381

rs_149120354

8 SubmittersRCV000179723 RCV000724678

NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile)

SNV
Germline

Chr19:12897377

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA351605

rs_869025299

3 SubmittersRCV000207408

NM_000159.4(GCDH):c.826G>T (p.Val276Leu)

SNV
Germline

Chr19:12896395

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9234497

rs_763300541

4 SubmittersRCV000211677 RCV003235136 RCV004020587

NM_000159.4(GCDH):c.271+3G>A

SNV
Germline

Chr19:12891977

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA9234285

rs_75430014

7 SubmittersRCV000224276 RCV001085163 RCV001699071

NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)

SNV
Germline

Chr19:12897776

Pathogenic

Condition: not provided
Glutaric aciduria, type 1
Hypomyelinating leukodystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA9234621

rs_752127949

12 SubmittersRCV000224565 RCV000778541 RCV002222454

NM_000159.4(GCDH):c.431A>C (p.Gln144Pro)

SNV
Germline

Chr19:12893579

Pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA10581470

rs_878853154

1 SubmittersRCV000224360

NM_000159.4(GCDH):c.456C>G (p.Ile152Met)

SNV
Germline

Chr19:12893604

Pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA10581471

rs_878853153

1 SubmittersRCV000224005

NM_000159.4(GCDH):c.1299G>A (p.Ala433=)

SNV
Germline

Chr19:12899523

Conflicting classifications of pathogenicity

not specified
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234699

rs_150271870

5 SubmittersRCV000244004 RCV000899021

NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)

SNV
Germline

Chr19:12899485

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234692

rs_151201155

10 SubmittersRCV000327109 RCV000672042

NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)

SNV
Germline

Chr19:12897764

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided
GCDH-related disorder

Criteria Provided
Conflicting Classifications

CA9234619

rs_567564095

9 SubmittersRCV000674015 RCV000521789 RCV003409413

NM_000159.4(GCDH):c.957-5T>C

SNV
Germline

Chr19:12897298

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234576

rs_769694211

2 SubmittersRCV000382129 RCV005090365

NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)

SNV
Germline

Chr19:12893504

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA10606016

rs_886043840

8 SubmittersRCV000284260 RCV000671394

NM_000159.4(GCDH):c.471C>T (p.Ser157=)

SNV
Germline

Chr19:12893619

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9234394

rs_146682905

6 SubmittersRCV000735103 RCV001087940 RCV003168488

NM_000159.4(GCDH):c.852+5G>A

SNV
Germline

Chr19:12896426

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA10652264

rs_886054243

3 SubmittersRCV000665806 RCV002282120

NM_000159.4(GCDH):c.1083-10C>T

SNV
Germline

Chr19:12897693

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234610

rs_756372984

2 SubmittersRCV000382523

NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr19:12891875

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16041963

rs_1006150317

3 SubmittersRCV000412281

NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)

SNV
Germline

Chr19:12891929

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041966

rs_898043081

6 SubmittersRCV000410967 RCV000760423

NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter)

SNV
Unknown

Chr19:12893487

Likely pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA16041967

rs_768836114

1 SubmittersRCV000412155

NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)

SNV
Germline

Chr19:12893530

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9234380

rs_752334462

4 SubmittersRCV000409274 RCV005241360

NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)

SNV
Germline

Chr19:12896000

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA16041969

rs_1057516715

2 SubmittersRCV000412058

NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)

SNV
Germline

Chr19:12896018

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234423

rs_749452002

7 SubmittersRCV000409563

NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)

SNV
Germline

Chr19:12896312

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041971

rs_1057516344

7 SubmittersRCV000411040 RCV001556801

NM_000159.4(GCDH):c.853-2A>G

SNV
Germline

Chr19:12896908

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16041972

rs_1057517410

3 SubmittersRCV000410275

NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)

SNV
Germline

Chr19:12897789

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16041974

rs_778153326

3 SubmittersRCV000411911

NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)

SNV
Germline

Chr19:12896333

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234481

rs_758503371

9 SubmittersRCV000416219 RCV000674290

NM_000159.4(GCDH):c.-35G>A

SNV
Germline

Chr19:12891202

Conflicting classifications of pathogenicity

not specified
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA14711897

rs_545594924

2 SubmittersRCV000443628 RCV001124037

NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)

SNV
Germline

Chr19:12893543

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16608038

rs_200639270

7 SubmittersRCV000444441 RCV000553882

NM_000159.4(GCDH):c.738G>A (p.Ser246=)

SNV
Germline

Chr19:12896307

Conflicting classifications of pathogenicity

not specified
Glutaric aciduria, type 1
GCDH-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9234478

rs_188548539

5 SubmittersRCV000420558 RCV000906189 RCV003942451 RCV004975504

NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)

SNV
Germline

Chr19:12896994

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA9234549

rs_779315456

10 SubmittersRCV000421572 RCV000671835 RCV002524845

NM_000159.4(GCDH):c.1143C>T (p.Ile381=)

SNV
Germline

Chr19:12897763

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9234618

rs_142553521

10 SubmittersRCV000525178 RCV000676738 RCV002450990

NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)

SNV
Germline

Chr19:12897776

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16608043

rs_752127949

2 SubmittersRCV000430164 RCV001043306

NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)

SNV
Germline

Chr19:12892125

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234312

rs_566417795

12 SubmittersRCV000485466 RCV000675080

NM_000159.4(GCDH):c.641C>T (p.Thr214Met)

SNV
Germline

Chr19:12896210

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404318457

rs_1131692030

7 SubmittersRCV000493776 RCV000668340

NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)

SNV
Germline

Chr19:12896949

Pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234539

rs_761765983

5 SubmittersRCV000494627 RCV000587206

NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)

SNV
Germline

Chr19:12897409

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234589

rs_781477694

6 SubmittersRCV000494375 RCV000670238

NM_000159.4(GCDH):c.881G>C (p.Arg294Pro)

SNV
Germline

Chr19:12896938

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319364

rs_775606471

2 SubmittersRCV000495869

NM_000159.4(GCDH):c.280C>T (p.Arg94Trp)

SNV
Germline

Chr19:12892124

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404315788

rs_771602677

2 SubmittersRCV000539095 RCV003330762

NM_000159.4(GCDH):c.397G>A (p.Val133Met)

SNV
Germline

Chr19:12893545

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317460

rs_746388510

4 SubmittersRCV000531618

NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)

SNV
Germline

Chr19:12896306

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234477

rs_754312389

3 SubmittersRCV000530261

NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)

SNV
Germline

Chr19:12897809

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA404321719

rs_1555751336

4 SubmittersRCV000539888

NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)

SNV
Germline

Chr19:12891971

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA305500200

rs_1025558859

4 SubmittersRCV000533495

NM_000159.4(GCDH):c.1064G>A (p.Arg355His)

SNV
Germline

Chr19:12897410

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9234590

rs_748275416

5 SubmittersRCV000551437 RCV004592559

NM_000159.4(GCDH):c.642G>A (p.Thr214=)

SNV
Germline

Chr19:12896211

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234459

rs_142806397

4 SubmittersRCV000634891 RCV000616616 RCV001718919

NM_000159.4(GCDH):c.541G>C (p.Glu181Gln)

SNV
Germline

Chr19:12896027

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234426

rs_745852738

2 SubmittersRCV000625783

NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)

SNV
Germline

Chr19:12893627

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Tyrosinemia type III

Criteria Provided
Multiple Submitters
No Conflicts

CA404317639

rs_1176799813

5 SubmittersRCV000634888 RCV004544826

NM_000159.4(GCDH):c.1197C>T (p.His399=)

SNV
Germline

Chr19:12897817

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234632

rs_139344943

4 SubmittersRCV000634892 RCV002334078 RCV001546496

NM_000159.4(GCDH):c.881G>T (p.Arg294Leu)

SNV
Germline

Chr19:12896938

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319365

rs_775606471

1 SubmittersRCV000634890

NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)

SNV
Germline

Chr19:12892125

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404315814

rs_566417795

5 SubmittersRCV000634889

NM_000159.4(GCDH):c.1249C>G (p.His417Asp)

SNV
Germline

Chr19:12899473

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404322111

rs_1405935475

1 SubmittersRCV000634886

NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)

SNV
Germline

Chr19:12891965

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA305500199

rs_142967670

4 SubmittersRCV000634887

NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)

SNV
Germline

Chr19:12896339

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9234482

rs_751583656

7 SubmittersRCV000634885 RCV000735163

NM_000159.4(GCDH):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr19:12891307

Likely pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404312935

rs_1230368107

1 SubmittersRCV000666241

NM_000159.4(GCDH):c.397G>T (p.Val133Leu)

SNV
Germline

Chr19:12893545

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9234382

rs_746388510

4 SubmittersRCV000671234 RCV001766447 RCV003230569

NM_000159.4(GCDH):c.1A>C (p.Met1Leu)

SNV
Germline

Chr19:12891305

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404312908

rs_1197426645

2 SubmittersRCV000668267

NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)

SNV
Germline

Chr19:12891895

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404315075

rs_1555749239

4 SubmittersRCV000665639

NM_000159.4(GCDH):c.272-2A>C

SNV
Germline

Chr19:12892114

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404315694

rs_1555749369

3 SubmittersRCV000668794

NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)

SNV
Germline

Chr19:12892178

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404316147

rs_758137643

2 SubmittersRCV000670206

NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)

SNV
Germline

Chr19:12897343

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404319938

rs_794726972

3 SubmittersRCV000672731

NM_000159.4(GCDH):c.1148G>A (p.Arg383His)

SNV
Germline

Chr19:12897768

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234620

rs_764608975

5 SubmittersRCV000671613

NM_000159.4(GCDH):c.1082+1G>T

SNV
Unknown

Chr19:12897429

Likely pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404320410

rs_1555751109

1 SubmittersRCV000672676

NM_000159.4(GCDH):c.1244-2A>G

SNV
Germline

Chr19:12899466

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404322089

rs_199999619

3 SubmittersRCV000668317

NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter)

SNV
Unknown

Chr19:12897859

Likely pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404321890

rs_776082304

1 SubmittersRCV000669106

NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)

SNV
Germline

Chr19:12899510

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234696

rs_745360675

6 SubmittersRCV000673919

NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)

SNV
Germline

Chr19:12899541

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404322318

rs_1555751995

2 SubmittersRCV000672866

NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)

SNV
Germline

Chr19:12892145

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404315959

rs_1273164833

4 SubmittersRCV000665561

NM_000159.4(GCDH):c.337T>C (p.Tyr113His)

SNV
Germline

Chr19:12893485

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404316740

rs_1555749853

3 SubmittersRCV000673679

NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)

SNV
Germline

Chr19:12893564

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317502

rs_139851890

3 SubmittersRCV000665802

NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)

SNV
Germline

Chr19:12896022

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234425

rs_774526353

5 SubmittersRCV000672204

NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)

SNV
Germline

Chr19:12896269

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA305500647

rs_964724051

6 SubmittersRCV000667870

NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)

SNV
Germline

Chr19:12897735

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404321329

rs_1555751240

4 SubmittersRCV000673771

NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)

SNV
Unknown

Chr19:12897789

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234626

rs_778153326

2 SubmittersRCV000674107

NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)

SNV
Germline

Chr19:12899522

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA305500987

rs_933624223

5 SubmittersRCV000672203

NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)

SNV
Germline

Chr19:12893585

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404317545

rs_1555749927

2 SubmittersRCV000671039

NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)

SNV
Germline

Chr19:12896209

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318453

rs_1468636851

2 SubmittersRCV000666652

NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)

SNV
Germline

Chr19:12896930

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404319333

rs_1328059662

3 SubmittersRCV000670161

NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)

SNV
Germline

Chr19:12896967

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA9234545

rs_373203481

4 SubmittersRCV000670621 RCV005056414

NM_000159.4(GCDH):c.1015A>G (p.Met339Val)

SNV
Germline

Chr19:12897361

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234582

rs_752234195

3 SubmittersRCV000671046

NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)

SNV
Unknown

Chr19:12897400

Pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404320240

rs_1555751089

1 SubmittersRCV000670197

NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)

SNV
Unknown

Chr19:12897840

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321824

rs_1555751379

2 SubmittersRCV000667393

NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr19:12896320

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA305500648

rs_1008834111

2 SubmittersRCV000700730

NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)

SNV
Germline

Chr19:12896971

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404319459

rs_1260580183

8 SubmittersRCV000705476 RCV003314640

NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser)

SNV
Germline

Chr19:12897738

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321351

rs_1568429137

1 SubmittersRCV000696441

NM_000159.4(GCDH):c.386A>C (p.Glu129Ala)

SNV
Germline

Chr19:12893534

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404317423

rs_1568425945

3 SubmittersRCV000685014 RCV004702316

NM_000159.4(GCDH):c.797T>C (p.Met266Thr)

SNV
Germline

Chr19:12896366

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9234492

rs_771650894

4 SubmittersRCV000697955 RCV004719957

NM_000159.4(GCDH):c.701G>C (p.Arg234Pro)

SNV
Germline

Chr19:12896270

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318675

rs_1203022386

2 SubmittersRCV000767352

NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly)

SNV
Germline

Chr19:12897734

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404321325

rs_771924230

2 SubmittersRCV000767353

NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter)

SNV
Germline

Chr19:12897860

Pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404321895

rs_147611168

1 SubmittersRCV000767354

NM_000159.4(GCDH):c.674G>C (p.Trp225Ser)

SNV
Germline

Chr19:12896243

Likely pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404318576

rs_1568427678

1 SubmittersRCV000785883

NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)

SNV
Germline

Chr19:12893516

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Abnormality of metabolism/homeostasis
GCDH-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234379

rs_780976048

9 SubmittersRCV001212105 RCV001814234 RCV004754563 RCV003442069

NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)

SNV
Germline

Chr19:12895996

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA9234419

rs_200785120

6 SubmittersRCV000824091 RCV003987715

NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)

SNV
Germline

Chr19:12896039

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
GCDH-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9234429

rs_576948027

6 SubmittersRCV000818955 RCV003892753 RCV004721635

NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)

SNV
Germline

Chr19:12896248

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9234462

rs_368357056

3 SubmittersRCV000815377 RCV004629346

NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)

SNV
Germline

Chr19:12896351

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234487

rs_777494547

5 SubmittersRCV000803410

NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)

SNV
Germline

Chr19:12896401

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234499

rs_751742575

6 SubmittersRCV000796665 RCV003424341

NM_000159.4(GCDH):c.1182T>G (p.Ile394Met)

SNV
Germline

Chr19:12897802

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321678

rs_1599618968

1 SubmittersRCV000816822

NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)

SNV
Germline

Chr19:12899522

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404322251

rs_933624223

3 SubmittersRCV000817710

NM_000159.4(GCDH):c.91+5G>A

SNV
Germline

Chr19:12891400

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA305500159

rs_952356983

5 SubmittersRCV000802276 RCV004721614

NM_000159.4(GCDH):c.1207C>T (p.His403Tyr)

SNV
Germline

Chr19:12897827

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404321785

rs_1599619080

2 SubmittersRCV000852302

NM_000159.4(GCDH):c.627C>T (p.Thr209=)

SNV
Germline

Chr19:12896113

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234443

rs_143172809

5 SubmittersRCV000872004 RCV002354672 RCV001726355

NM_000159.4(GCDH):c.38G>A (p.Arg13His)

SNV
Germline

Chr19:12891342

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided
GCDH-related disorder

Criteria Provided
Conflicting Classifications

CA9234173

rs_550100640

6 SubmittersRCV000910751 RCV003229000 RCV003950728

NM_000159.4(GCDH):c.209C>A (p.Thr70Asn)

SNV
Germline

Chr19:12891912

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234274

rs_770537412

3 SubmittersRCV000941197 RCV003233885

NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr)

SNV
Unknown

Chr19:12897762

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA305500777

rs_772654647

1 SubmittersRCV000990157

NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys)

SNV
Unknown

Chr19:12897842

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321827

rs_1599619180

1 SubmittersRCV000990158

NM_000159.4(GCDH):c.896G>A (p.Trp299Ter)

SNV
Germline

Chr19:12896953

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404319422

rs_1599616676

2 SubmittersRCV001004412

NM_000159.4(GCDH):c.150G>C (p.Trp50Cys)

SNV
Germline

Chr19:12891853

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404314835

rs_1970564149

1 SubmittersRCV001066989

NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)

SNV
Germline

Chr19:12893492

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234371

rs_776758971

2 SubmittersRCV001070239

NM_000159.4(GCDH):c.406G>T (p.Gly136Cys)

SNV
Germline

Chr19:12893554

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317481

rs_1970604182

2 SubmittersRCV001058595

NM_000159.4(GCDH):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr19:12893626

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317635

rs_1970608600

2 SubmittersRCV001057307

NM_000159.4(GCDH):c.481C>T (p.Arg161Trp)

SNV
Germline

Chr19:12893629

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317643

rs_1173575355

3 SubmittersRCV001054587

NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)

SNV
Germline

Chr19:12896224

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404318505

rs_1970675055

2 SubmittersRCV001060570

NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)

SNV
Germline

Chr19:12896227

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234461

rs_375357230

2 SubmittersRCV001041052

NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)

SNV
Germline

Chr19:12896345

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234484

rs_367699815

4 SubmittersRCV001062215

NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)

SNV
Germline

Chr19:12896937

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404319361

rs_1864390545

4 SubmittersRCV001066990 RCV005256740

NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)

SNV
Germline

Chr19:12896938

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234536

rs_775606471

5 SubmittersRCV001066080

NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)

SNV
Germline

Chr19:12897391

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404320190

rs_1257292639

3 SubmittersRCV001047255

NM_000159.4(GCDH):c.1133C>T (p.Ala378Val)

SNV
Germline

Chr19:12897753

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404321435

rs_1970719648

2 SubmittersRCV001054157

NM_000159.4(GCDH):c.876C>T (p.Asn292=)

SNV
Germline

Chr19:12896933

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA505648348

rs_1438245420

2 SubmittersRCV001127092

NM_000159.4(GCDH):c.945C>T (p.Tyr315=)

SNV
Germline

Chr19:12897002

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA305500711

rs_138133019

2 SubmittersRCV001127094

NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)

SNV
Germline

Chr19:12896249

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234463

rs_121434373

2 SubmittersRCV001223617

NM_000159.4(GCDH):c.796A>G (p.Met266Val)

SNV
Germline

Chr19:12896365

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404318996

rs_745357523

2 SubmittersRCV001214424

NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)

SNV
Germline

Chr19:12896942

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404319376

rs_139192015

2 SubmittersRCV001214878

NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr)

SNV
Germline

Chr19:12897723

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321274

rs_1970718775

1 SubmittersRCV001224580

NM_000159.4(GCDH):c.127+1G>A

SNV
Germline

Chr19:12891523

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404314529

rs_1473339589

3 SubmittersRCV001212983 RCV002245875

NM_000159.4(GCDH):c.245G>C (p.Arg82Pro)

SNV
Germline

Chr19:12891948

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404315436

rs_1568424857

2 SubmittersRCV001226285 RCV004800735

NM_000159.4(GCDH):c.413G>A (p.Arg138Lys)

SNV
Germline

Chr19:12893561

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234385

rs_747370741

2 SubmittersRCV001238237

NM_000159.4(GCDH):c.848T>C (p.Leu283Pro)

SNV
Germline

Chr19:12896417

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404319196

rs_1970682343

3 SubmittersRCV001228058

NM_000159.4(GCDH):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr19:12896997

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319582

rs_1970696255

1 SubmittersRCV001231954

NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)

SNV
Germline

Chr19:12891860

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234268

rs_768532620

2 SubmittersRCV001245375

NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)

SNV
Germline

Chr19:12897003

Conflicting classifications of pathogenicity

Intellectual disability
Glutaric aciduria, type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9234551

rs_370059118

5 SubmittersRCV001252002 RCV001247144 RCV004034887

NM_000159.4(GCDH):c.852+1G>A

SNV
Germline

Chr19:12896422

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319211

rs_1367214521

1 SubmittersRCV001238126

NM_000159.4(GCDH):c.1228G>A (p.Val410Met)

SNV
Germline

Chr19:12897848

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234637

rs_760155287

5 SubmittersRCV001255208

NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)

SNV
Unknown

Chr19:12891519

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404314488

rs_1252148225

1 SubmittersRCV001264318

NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)

SNV
Germline

Chr19:12891852

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
GCDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404314826

rs_1970564107

3 SubmittersRCV001264319 RCV003963164

NM_000159.4(GCDH):c.229G>T (p.Glu77Ter)

SNV
Unknown

Chr19:12891932

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404315329

rs_1302922191

1 SubmittersRCV001264320

NM_000159.4(GCDH):c.304G>T (p.Glu102Ter)

SNV
Unknown

Chr19:12892148

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404315986

rs_976647697

1 SubmittersRCV001264321

NM_000159.4(GCDH):c.635G>A (p.Trp212Ter)

SNV
Unknown

Chr19:12896121

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318395

rs_1970671544

1 SubmittersRCV001264322

NM_000159.4(GCDH):c.907G>T (p.Gly303Ter)

SNV
Unknown

Chr19:12896964

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319445

rs_1970694961

1 SubmittersRCV001264323

NM_000159.4(GCDH):c.988C>T (p.Gln330Ter)

SNV
Unknown

Chr19:12897334

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319898

rs_1970707032

1 SubmittersRCV001264324

NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter)

SNV
Unknown

Chr19:12897413

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404320309

rs_1970710230

1 SubmittersRCV001264325

NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn)

SNV
Germline

Chr19:12897779

Likely pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

CA404321558

rs_1970720537

1 SubmittersRCV001280840

NM_000159.4(GCDH):c.300G>A (p.Met100Ile)

SNV
Germline

Chr19:12892144

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234320

rs_759838598

2 SubmittersRCV001309614

NM_000159.4(GCDH):c.263G>A (p.Arg88His)

SNV
Germline

Chr19:12891966

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404315547

rs_1970568682

3 SubmittersRCV001311168 RCV001780244

NM_000159.4(GCDH):c.1243+1G>T

SNV
Germline

Chr19:12897864

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404321907

rs_1970723970

2 SubmittersRCV001329661

NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)

SNV
Germline

Chr19:12891906

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA404315132

rs_1417389111

2 SubmittersRCV001376891

NM_000159.4(GCDH):c.511G>C (p.Gly171Arg)

SNV
Germline

Chr19:12895997

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317913

rs_2145950047

2 SubmittersRCV001379086

NM_000159.4(GCDH):c.1083-2A>C

SNV
Germline

Chr19:12897701

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321160

rs_2145954766

1 SubmittersRCV001377797

NM_000159.4(GCDH):c.91G>T (p.Glu31Ter)

SNV
Germline

Chr19:12891395

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404313425

rs_1374072630

1 SubmittersRCV001382602

NM_000159.4(GCDH):c.389T>C (p.Leu130Pro)

SNV
Germline

Chr19:12893537

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404317438

rs_1254101861

1 SubmittersRCV001382601

NM_000159.4(GCDH):c.463T>C (p.Tyr155His)

SNV
Germline

Chr19:12893611

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317601

rs_1482995062

2 SubmittersRCV001387790

NM_000159.4(GCDH):c.905T>C (p.Leu302Pro)

SNV
Germline

Chr19:12896962

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319441

rs_2145952877

1 SubmittersRCV001385538

NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln)

SNV
Germline

Chr19:12897777

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234622

rs_398123190

3 SubmittersRCV001385539

NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg)

SNV
Germline

Chr19:12897788

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404321607

rs_372983141

2 SubmittersRCV001382324

NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)

SNV
Germline

Chr19:12897795

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404321639

rs_2145955095

2 SubmittersRCV001390438

NM_000159.4(GCDH):c.92-7C>T

SNV
Germline

Chr19:12891480

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234204

rs_538220975

2 SubmittersRCV001466399 RCV001726562

NM_000159.4(GCDH):c.505+1G>A

SNV
Germline

Chr19:12893654

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA305500360

rs_968628450

3 SubmittersRCV001506972

NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)

SNV
Germline

Chr19:12891851

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9234265

rs_758646992

3 SubmittersRCV001832767 RCV001563484

NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)

SNV
Germline

Chr19:12896216

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA404318479

rs_1449724176

6 SubmittersRCV001564950 RCV002271661 RCV001832769

NM_000159.4(GCDH):c.803G>T (p.Gly268Val)

SNV
Germline

Chr19:12896372

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234495

rs_765723076

2 SubmittersRCV001730140

NM_000159.4(GCDH):c.150G>A (p.Trp50Ter)

SNV
Germline

Chr19:12891853

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404314833

rs_1970564149

3 SubmittersRCV001806292

NM_000159.4(GCDH):c.857C>T (p.Pro286Leu)

SNV
Germline

Chr19:12896914

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404319279

rs_1254396827

2 SubmittersRCV001899329 RCV005057726

NM_000159.4(GCDH):c.262C>G (p.Arg88Gly)

SNV
Germline

Chr19:12891965

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404315542

rs_142967670

2 SubmittersRCV001990342

NM_000159.4(GCDH):c.394C>T (p.Arg132Trp)

SNV
Germline

Chr19:12893542

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234381

rs_372429120

1 SubmittersRCV002036813

NM_000159.4(GCDH):c.446T>C (p.Met149Thr)

SNV
Germline

Chr19:12893594

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404317564

rs_2145944429

4 SubmittersRCV001960623 RCV005406229

NM_000159.4(GCDH):c.583G>A (p.Ala195Thr)

SNV
Germline

Chr19:12896069

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404318183

rs_2145950460

3 SubmittersRCV001945339 RCV003154220

NM_000159.4(GCDH):c.680G>T (p.Arg227Leu)

SNV
Germline

Chr19:12896249

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404318600

rs_121434373

2 SubmittersRCV001996365 RCV004699627

NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)

SNV
Germline

Chr19:12896995

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234550

rs_746220312

7 SubmittersRCV001953810

NM_000159.4(GCDH):c.466G>A (p.Gly156Ser)

SNV
Germline

Chr19:12893614

Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9234393

rs_767351827

2 SubmittersRCV002036913 RCV004729058

NM_000159.4(GCDH):c.1082+2T>C

SNV
Germline

Chr19:12897430

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404320414

rs_2145954110

2 SubmittersRCV002017219

NM_000159.4(GCDH):c.535C>G (p.Leu179Val)

SNV
Germline

Chr19:12896021

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317998

rs_201714645

2 SubmittersRCV002012007

NM_000159.4(GCDH):c.701G>A (p.Arg234Gln)

SNV
Germline

Chr19:12896270

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404318678

rs_1203022386

3 SubmittersRCV002022592 RCV004690225

NM_000159.4(GCDH):c.511G>T (p.Gly171Trp)

SNV
Germline

Chr19:12895997

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317915

rs_2145950047

2 SubmittersRCV001869903

NM_000159.4(GCDH):c.398T>G (p.Val133Gly)

SNV
Germline

Chr19:12893546

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234383

rs_772549903

1 SubmittersRCV002022187

NM_000159.4(GCDH):c.1199T>C (p.Val400Ala)

SNV
Germline

Chr19:12897819

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321763

rs_2145955176

1 SubmittersRCV002038289

NM_000159.4(GCDH):c.998A>G (p.Gln333Arg)

SNV
Germline

Chr19:12897344

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319945

rs_2145953853

1 SubmittersRCV001942078

NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg)

SNV
Germline

Chr19:12897743

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified
GCDH-related disorder

Criteria Provided
Conflicting Classifications

CA404321382

rs_1348974766

3 SubmittersRCV001962908 RCV004782835 RCV004731214

NM_000159.4(GCDH):c.1244-1G>A

SNV
Germline

Chr19:12899467

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404322093

rs_1160507620

3 SubmittersRCV001942026

NM_000159.4(GCDH):c.278A>T (p.His93Leu)

SNV
Germline

Chr19:12892122

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA305500208

rs_398123192

1 SubmittersRCV002040761

NM_000159.4(GCDH):c.833C>T (p.Pro278Leu)

SNV
Germline

Chr19:12896402

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA9234500

rs_755054282

3 SubmittersRCV002031075 RCV003317573

NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly)

SNV
Germline

Chr19:12897831

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321800

rs_1432619357

1 SubmittersRCV001957618

NM_000159.4(GCDH):c.1176T>G (p.Asn392Lys)

SNV
Germline

Chr19:12897796

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404321643

rs_2145955099

2 SubmittersRCV001960526 RCV005238110

NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys)

SNV
Germline

Chr19:12893486

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404316751

rs_1970602621

1 SubmittersRCV001961651

NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)

SNV
Germline

Chr19:12896252

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA404318610

rs_1970675873

4 SubmittersRCV001901565 RCV004719195 RCV003490927

NM_000159.4(GCDH):c.275T>G (p.Phe92Cys)

SNV
Germline

Chr19:12892119

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404315727

rs_2145940591

1 SubmittersRCV001963145

NM_000159.4(GCDH):c.1209C>G (p.His403Gln)

SNV
Germline

Chr19:12897829

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321795

rs_747746632

1 SubmittersRCV001966702

NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter)

SNV
Germline

Chr19:12891925

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404315260

rs_754378464

1 SubmittersRCV001956566

NM_000159.4(GCDH):c.467G>T (p.Gly156Val)

SNV
Germline

Chr19:12893615

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA305500357

rs_1034155331

1 SubmittersRCV001890736

NM_000159.4(GCDH):c.775T>C (p.Ser259Pro)

SNV
Germline

Chr19:12896344

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404318911

rs_2145951375

2 SubmittersRCV001890759

NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr)

SNV
Germline

Chr19:12897752

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404321429

rs_1442597198

3 SubmittersRCV001963579 RCV004690204

NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)

SNV
Germline

Chr19:12896275

Pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234467

rs_747920711

3 SubmittersRCV002244352 RCV003093945

NM_000159.4(GCDH):c.424A>C (p.Ser142Arg)

SNV
Germline

Chr19:12893572

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404317517

rs_2145944277

1 SubmittersRCV002249052

NM_000159.4(GCDH):c.671T>G (p.Val224Gly)

SNV
Germline

Chr19:12896240

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318568

rs_1970675584

1 SubmittersRCV002250009

NM_000159.4(GCDH):c.541G>A (p.Glu181Lys)

SNV
Germline

Chr19:12896027

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318015

rs_745852738

1 SubmittersRCV002272778

NM_000159.4(GCDH):c.572T>G (p.Met191Arg)

SNV
Germline

Chr19:12896058

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318138

rs_149120354

1 SubmittersRCV002284000

NM_000159.4(GCDH):c.650C>T (p.Pro217Leu)

SNV
Germline

Chr19:12896219

Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404318490

rs_2512573365

2 SubmittersRCV002284934 RCV003464435

NM_000159.4(GCDH):c.442G>A (p.Val148Ile)

SNV
Germline

Chr19:12893590

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317554

rs_1003611285

4 SubmittersRCV003050529

NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)

SNV
Germline

Chr19:12893612

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404317604

rs_2512568101

2 SubmittersRCV003064557

NM_000159.4(GCDH):c.713T>C (p.Leu238Pro)

SNV
Germline

Chr19:12896282

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318710

rs_2512573503

1 SubmittersRCV003064559

NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)

SNV
Germline

Chr19:12896402

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319143

rs_755054282

1 SubmittersRCV003064561

NM_000159.4(GCDH):c.901G>A (p.Val301Met)

SNV
Germline

Chr19:12896958

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA9234544

rs_751186776

3 SubmittersRCV003050530 RCV003479465

NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)

SNV
Germline

Chr19:12897839

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321821

rs_1568429421

2 SubmittersRCV003041360

NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys)

SNV
Germline

Chr19:12897858

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321888

rs_2512577883

1 SubmittersRCV003041361

NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)

SNV
Germline

Chr19:12896021

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234424

rs_201714645

3 SubmittersRCV003076183

NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)

SNV
Germline

Chr19:12891960

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404315510

rs_1970568352

3 SubmittersRCV003084916 RCV005059156

NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)

SNV
Germline

Chr19:12891947

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404315421

rs_1333480915

1 SubmittersRCV002741180

NM_000159.4(GCDH):c.1214T>C (p.Met405Thr)

SNV
Germline

Chr19:12897834

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321807

rs_2512577776

1 SubmittersRCV002796465

NM_000159.4(GCDH):c.659A>T (p.Asp220Val)

SNV
Germline

Chr19:12896228

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318523

rs_2512573372

1 SubmittersRCV002796534

NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser)

SNV
Germline

Chr19:12897736

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321336

rs_2512577314

1 SubmittersRCV002875995

NM_000159.4(GCDH):c.204G>C (p.Arg68Ser)

SNV
Germline

Chr19:12891907

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404315140

rs_956812784

1 SubmittersRCV002847202

NM_000159.4(GCDH):c.158C>T (p.Pro53Leu)

SNV
Germline

Chr19:12891861

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404314897

rs_2512564831

1 SubmittersRCV002872645

NM_000159.4(GCDH):c.788T>C (p.Met263Thr)

SNV
Germline

Chr19:12896357

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318958

rs_2512573674

1 SubmittersRCV002942168

NM_000159.4(GCDH):c.127+1G>T

SNV
Germline

Chr19:12891523

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404314524

rs_1473339589

2 SubmittersRCV003021570

NM_000159.4(GCDH):c.1082+1G>A

SNV
Germline

Chr19:12897429

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404320408

rs_1555751109

1 SubmittersRCV003021571

NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)

SNV
Germline

Chr19:12896248

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318596

rs_368357056

1 SubmittersRCV003031954

NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)

SNV
Germline

Chr19:12896205

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA404318431

rs_2512573326

2 SubmittersRCV003466004 RCV002840398

NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)

SNV
Germline

Chr19:12891851

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404314819

rs_758646992

2 SubmittersRCV003324309

NM_000159.4(GCDH):c.1A>G (p.Met1Val)

SNV
Germline

Chr19:12891305

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404312893

rs_1197426645

2 SubmittersRCV003324906 RCV005029983

NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)

SNV
Germline

Chr19:12896047

Pathogenic/Likely pathogenic

GCDH-related disorder
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234432

rs_377580992

2 SubmittersRCV003397531 RCV003603160

NM_000159.4(GCDH):c.1249C>T (p.His417Tyr)

SNV
Unknown

Chr19:12899473

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404322112

rs_1405935475

1 SubmittersRCV003461676

NM_000159.4(GCDH):c.339T>A (p.Tyr113Ter)

SNV
Unknown

Chr19:12893487

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234370

rs_768836114

1 SubmittersRCV003461678

NM_000159.4(GCDH):c.957-1G>C

SNV
Unknown

Chr19:12897302

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319745

rs_2145953759

1 SubmittersRCV003461679

NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)

SNV
Germline

Chr19:12897307

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404319764

rs_773310063

2 SubmittersRCV003468261

NM_000159.4(GCDH):c.853-1G>A

SNV
Unknown

Chr19:12896909

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319257

rs_2512574792

1 SubmittersRCV003468262

NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)

SNV
Unknown

Chr19:12893559

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404317492

rs_780437859

1 SubmittersRCV003461682

NM_000159.4(GCDH):c.272-2A>G

SNV
Unknown

Chr19:12892114

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404315697

rs_1555749369

1 SubmittersRCV003461683

NM_000159.4(GCDH):c.1093G>T (p.Glu365Ter)

SNV
Unknown

Chr19:12897713

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321220

rs_121434370

1 SubmittersRCV003461684

NM_000159.4(GCDH):c.175C>T (p.Gln59Ter)

SNV
Unknown

Chr19:12891878

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404314995

rs_2512564904

1 SubmittersRCV003461685

NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)

SNV
Germline

Chr19:12891872

Conflicting classifications of pathogenicity

not specified
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA9234269

rs_776643576

2 SubmittersRCV003490904 RCV003603175

NM_000159.4(GCDH):c.1000A>T (p.Lys334Ter)

SNV
Germline

Chr19:12897346

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319957

rs_2512576016

1 SubmittersRCV003499271

NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)

SNV
Germline

Chr19:12897394

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404320214

rs_780441925

1 SubmittersRCV003499878

NM_000159.4(GCDH):c.215G>T (p.Arg72Leu)

SNV
Germline

Chr19:12891918

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA404315226

rs_759076157

3 SubmittersRCV003497351 RCV005419657 RCV005241538

NM_000159.4(GCDH):c.658G>T (p.Asp220Tyr)

SNV
Germline

Chr19:12896227

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318517

rs_375357230

1 SubmittersRCV003497352

NM_000159.4(GCDH):c.787A>G (p.Met263Val)

SNV
Germline

Chr19:12896356

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318955

rs_1970680774

1 SubmittersRCV003497353

NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)

SNV
Germline

Chr19:12896983

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA404319538

rs_1247712895

2 SubmittersRCV003497354

NM_000159.4(GCDH):c.1168G>T (p.Gly390Trp)

SNV
Germline

Chr19:12897788

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321613

rs_372983141

1 SubmittersRCV003497355

NM_000159.4(GCDH):c.1193A>G (p.Tyr398Cys)

SNV
Germline

Chr19:12897813

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404321742

rs_2512577655

3 SubmittersRCV003497356 RCV005241539

NM_000159.4(GCDH):c.1243+1G>C

SNV
Germline

Chr19:12897864

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321906

rs_1970723970

1 SubmittersRCV003497357

NM_000159.4(GCDH):c.1274G>T (p.Gly425Val)

SNV
Germline

Chr19:12899498

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404322173

rs_2145959018

1 SubmittersRCV003497358

NM_000159.4(GCDH):c.957-1G>T

SNV
Germline

Chr19:12897302

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319748

rs_2145953759

1 SubmittersRCV003498743

NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)

SNV
Germline

Chr19:12891504

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404314371

rs_2512563894

1 SubmittersRCV003499499

NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)

SNV
Germline

Chr19:12893497

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404317306

rs_2512567826

1 SubmittersRCV003603234

NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)

SNV
Germline

Chr19:12896333

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404318879

rs_758503371

3 SubmittersRCV003603235

NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)

SNV
Germline

Chr19:12897806

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321699

rs_2512577630

1 SubmittersRCV003603443

NM_000159.4(GCDH):c.334+1G>A

SNV
Germline

Chr19:12892179

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404316148

rs_2512565797

1 SubmittersRCV003602549

NM_000159.4(GCDH):c.878C>T (p.Ala293Val)

SNV
Germline

Chr19:12896935

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404319358

rs_2512574882

1 SubmittersRCV003602591

NM_000159.4(GCDH):c.1204C>G (p.Arg402Gly)

SNV
Germline

Chr19:12897824

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321777

rs_121434369

1 SubmittersRCV003603751

NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)

SNV
Germline

Chr19:12897406

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404320276

rs_768925619

1 SubmittersRCV003603772

NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)

SNV
Germline

Chr19:12895996

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234418

rs_200785120

1 SubmittersRCV003603546

NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)

SNV
Germline

Chr19:12896332

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318877

rs_1479265777

1 SubmittersRCV003603992

NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)

SNV
Germline

Chr19:12897421

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404320367

rs_1237120625

1 SubmittersRCV003821067

NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)

SNV
Germline

Chr19:12896040

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404318065

rs_2512572818

1 SubmittersRCV003838014

NM_000159.4(GCDH):c.445A>G (p.Met149Val)

SNV
Germline

Chr19:12893593

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404317560

rs_2512568075

1 SubmittersRCV003835110

NM_000159.4(GCDH):c.167T>C (p.Leu56Pro)

SNV
Germline

Chr19:12891870

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404314937

rs_1265030225

2 SubmittersRCV003864224 RCV005433485

NM_000159.4(GCDH):c.367T>C (p.Tyr123His)

SNV
Germline

Chr19:12893515

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA9234378

rs_754741320

1 SubmittersRCV003873989

NM_000159.4(GCDH):c.1208A>G (p.His403Arg)

SNV
Germline

Chr19:12897828

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404321791

rs_2512577738

1 SubmittersRCV003989055

NM_000159.4(GCDH):c.1060G>C (p.Gly354Arg)

SNV
Germline

Chr19:12897406

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA404320273

rs_768925619

1 SubmittersRCV004527529

NM_000159.4(GCDH):c.1205G>C (p.Arg402Pro)

SNV
Germline

Chr19:12897825

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

CA404321778

rs_786204626

3 SubmittersRCV004527068

NM_000159.4(GCDH):c.1119T>G (p.Asn373Lys)

SNV
Germline

Chr19:12897739

Conflicting classifications of pathogenicity

not specified
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690868 RCV005023634

NM_000159.4(GCDH):c.1244-14T>G

SNV
Germline

Chr19:12899454

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004821093

NM_000159.4(GCDH):c.333A>G (p.Lys111=)

SNV
Germline

Chr19:12892177

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004823551

NM_000159.4(GCDH):c.115C>T (p.Gln39Ter)

SNV
Germline

Chr19:12891510

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005026374

NM_000159.4(GCDH):c.442G>T (p.Val148Phe)

SNV
Germline

Chr19:12893590

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005026377

NM_000159.4(GCDH):c.852+1G>C

SNV
Germline

Chr19:12896422

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005026379

NM_000159.4(GCDH):c.911C>T (p.Ala304Val)

SNV
Germline

Chr19:12896968

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005026380

NM_000159.4(GCDH):c.1294C>T (p.Gln432Ter)

SNV
Germline

Chr19:12899518

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005026381

NM_000159.4(GCDH):c.1016T>G (p.Met339Arg)

SNV
Germline

Chr19:12897362

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005113391

NM_000159.4(GCDH):c.92-2A>C

SNV
Germline

Chr19:12891485

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005123229

NM_000159.4(GCDH):c.167T>G (p.Leu56Arg)

SNV
Germline

Chr19:12891870

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005154579

NM_000159.4(GCDH):c.335-2A>G

SNV
Germline

Chr19:12893481

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005233237

NM_000159.4(GCDH):c.1169G>A (p.Gly390Glu)

SNV
Germline

Chr19:12897789

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005409435

NM_000159.4(GCDH):c.263G>C (p.Arg88Pro)

SNV
Germline

Chr19:12891966

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005418441