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	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Single Submitter	CA252094	rs_121434366	2 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	12 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	20 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 Inborn genetic diseases Primary ciliary dyskinesia 29	Criteria Provided Multiple Submitters No Conflicts	CA252097	rs_121434369	21 SubmittersRCV000002166 RCV000255833 RCV001813936 RCV002512670 RCV003447469
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	12 SubmittersRCV000002167 RCV000224528
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	SNV Germline	Chr19:12897818	Pathogenic	Glutaric aciduria, type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252099	rs_121434372	14 SubmittersRCV000002169 RCV000224327 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	4 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/Likely 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	11 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	8 SubmittersRCV000169574 RCV000255875
NM_000159.4(GCDH):c.271+1G>A	SNV Germline	Chr19:12891975	Pathogenic/Likely 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	8 SubmittersRCV000169460
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	SNV Germline	Chr19:12893564	Pathogenic/Likely 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	3 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	11 SubmittersRCV000169226 RCV000480428
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	SNV Germline	Chr19:12897406	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA274169	rs_768925619	5 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	6 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/Likely pathogenic	Glutaric aciduria, type 1 GCDH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274339	rs_776082304	2 SubmittersRCV000169467 RCV003416053
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	SNV Germline	Chr19:12896244	Pathogenic/Likely 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	11 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	9 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	10 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	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA351605	rs_869025299	2 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	6 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	9 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	9 SubmittersRCV000327109 RCV000672042
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	SNV Germline	Chr19:12897764	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1 GCDH-related disorder	Criteria Provided Conflicting Classifications	CA9234619	rs_567564095	9 SubmittersRCV000521789 RCV000674015 RCV003409413
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	Glutaric aciduria, type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9234394	rs_146682905	6 SubmittersRCV001087940 RCV000735103 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	4 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/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041966	rs_898043081	5 SubmittersRCV000410967 RCV000760423
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter)	SNV Unknown	Chr19:12893487	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter	CA16041967	rs_768836114	1 SubmittersRCV000412155
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)	SNV Germline	Chr19:12893530	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9234380	rs_752334462	3 SubmittersRCV000409274
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)	SNV Germline	Chr19:12896000	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	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/Likely pathogenic	Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041971	rs_1057516344	6 SubmittersRCV000411040 RCV001556801
NM_000159.4(GCDH):c.853-2A>G	SNV Germline	Chr19:12896908	Pathogenic/Likely 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/Likely 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	7 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	6 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	Criteria Provided Conflicting Classifications	CA9234478	rs_188548539	4 SubmittersRCV000420558 RCV000906189 RCV003942451
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	SNV Germline	Chr19:12896994	Conflicting classifications of pathogenicity	Condition: not provided Glutaric aciduria, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	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	11 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	6 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	5 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_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)	SNV Germline	Chr19:43511460	Likely pathogenic	Ethylmalonic encephalopathy Abnormality of the nervous system Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts	CA406175487	rs_1555762722	5 SubmittersRCV000503577 RCV001814171 RCV004526691
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	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications	CA404317460	rs_746388510	3 SubmittersRCV000531618 RCV004526700
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	3 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	Criteria Provided Multiple Submitters No Conflicts	CA9234590	rs_748275416	4 SubmittersRCV000551437
NM_000159.4(GCDH):c.642G>A (p.Thr214=)	SNV Germline	Chr19:12896211	Conflicting classifications of pathogenicity	not specified Glutaric aciduria, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9234459	rs_142806397	4 SubmittersRCV000616616 RCV000634891 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	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Tyrosinemia type III	Criteria Provided Conflicting Classifications	CA404317639	rs_1176799813	4 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	6 SubmittersRCV000634885 RCV000735163
NM_000159.4(GCDH):c.3G>A (p.Met1Ile)	SNV Unknown	Chr19:12891307	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		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		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 Multiple Submitters No Conflicts		rs_1197426645	2 SubmittersRCV000668267
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)	SNV Germline	Chr19:12891895	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		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		rs_1555749369	3 SubmittersRCV000668794
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)	SNV Germline	Chr19:12892178	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_758137643	2 SubmittersRCV000670206
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	SNV Germline	Chr19:12897343	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_794726972	3 SubmittersRCV000672731
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	SNV Germline	Chr19:12897768	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_764608975	4 SubmittersRCV000671613
NM_000159.4(GCDH):c.1082+1G>T	SNV Unknown	Chr19:12897429	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1555751109	1 SubmittersRCV000672676
NM_000159.4(GCDH):c.1244-2A>G	SNV Germline	Chr19:12899466	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_199999619	3 SubmittersRCV000668317
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter)	SNV Unknown	Chr19:12897859	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_776082304	1 SubmittersRCV000669106
NM_000159.4(GCDH):c.1244-15A>G	SNV Germline	Chr19:12899453	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_201407990	2 SubmittersRCV000665025
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)	SNV Germline	Chr19:12899510	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_745360675	5 SubmittersRCV000673919
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)	SNV Germline	Chr19:12899541	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1555751995	2 SubmittersRCV000672866
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	SNV Germline	Chr19:12892145	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1273164833	3 SubmittersRCV000665561
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	SNV Germline	Chr19:12893485	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1555749853	3 SubmittersRCV000673679
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	SNV Germline	Chr19:12893564	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		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		rs_774526353	4 SubmittersRCV000672204
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	SNV Germline	Chr19:12896269	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_964724051	5 SubmittersRCV000667870
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)	SNV Germline	Chr19:12897735	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_1555751240	3 SubmittersRCV000673771
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	SNV Unknown	Chr19:12897789	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_778153326	2 SubmittersRCV000674107
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)	SNV Germline	Chr19:12899522	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_933624223	4 SubmittersRCV000672203
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)	SNV Germline	Chr19:12893585	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_1555749927	2 SubmittersRCV000671039
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)	SNV Germline	Chr19:12896209	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_1468636851	2 SubmittersRCV000666652
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)	SNV Germline	Chr19:12896930	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications		rs_1328059662	3 SubmittersRCV000670161 RCV001731873
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	SNV Germline	Chr19:12896967	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_373203481	3 SubmittersRCV000670621
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	SNV Germline	Chr19:12897361	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_752234195	3 SubmittersRCV000671046
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)	SNV Unknown	Chr19:12897400	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1555751089	1 SubmittersRCV000670197
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	SNV Unknown	Chr19:12897840	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		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		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		rs_1260580183	7 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		rs_1568429137	1 SubmittersRCV000696441
NM_000159.4(GCDH):c.386A>C (p.Glu129Ala)	SNV Germline	Chr19:12893534	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1568425945	1 SubmittersRCV000685014
NM_000159.4(GCDH):c.797T>C (p.Met266Thr)	SNV Germline	Chr19:12896366	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 not specified	Criteria Provided Conflicting Classifications		rs_771650894	2 SubmittersRCV000697955 RCV003117495
NM_000159.4(GCDH):c.701G>C (p.Arg234Pro)	SNV Germline	Chr19:12896270	Pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided		rs_1203022386	1 SubmittersRCV000767352
NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly)	SNV Germline	Chr19:12897734	Pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided		rs_771924230	1 SubmittersRCV000767353
NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter)	SNV Germline	Chr19:12897860	Pathogenic	Glutaric aciduria, type 1	No Assertion Criteria Provided		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		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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_780976048	7 SubmittersRCV001212105 RCV001814234 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		rs_200785120	5 SubmittersRCV000824091 RCV003987715
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)	SNV Germline	Chr19:12896039	Pathogenic	Glutaric aciduria, type 1 GCDH-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_576948027	3 SubmittersRCV000818955 RCV003892753
NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)	SNV Germline	Chr19:12896248	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_368357056	1 SubmittersRCV000815377
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		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		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		rs_933624223	3 SubmittersRCV000817710
NM_000159.4(GCDH):c.91+5G>A	SNV Germline	Chr19:12891400	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_952356983	4 SubmittersRCV000802276
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		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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143172809	5 SubmittersRCV000872004 RCV001726355 RCV002354672
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		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		rs_770537412	2 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		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		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		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		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		rs_776758971	2 SubmittersRCV001070239
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys)	SNV Germline	Chr19:12893554	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1970604182	1 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		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		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		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		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		rs_367699815	3 SubmittersRCV001062215
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)	SNV Germline	Chr19:12896937	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1864390545	2 SubmittersRCV001066990
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)	SNV Germline	Chr19:12896938	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_775606471	6 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		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		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		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		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		rs_121434373	2 SubmittersRCV001223617
NM_000159.4(GCDH):c.796A>G (p.Met266Val)	SNV Germline	Chr19:12896365	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_745357523	1 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		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		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		rs_1473339589	3 SubmittersRCV001212983 RCV002245875
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro)	SNV Germline	Chr19:12891948	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1568424857	1 SubmittersRCV001226285
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys)	SNV Germline	Chr19:12893561	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_747370741	2 SubmittersRCV001238237
NM_000159.4(GCDH):c.848T>C (p.Leu283Pro)	SNV Germline	Chr19:12896417	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1970682343	1 SubmittersRCV001228058
NM_000159.4(GCDH):c.940C>T (p.Gln314Ter)	SNV Germline	Chr19:12896997	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		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		rs_768532620	2 SubmittersRCV001245375
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)	SNV Germline	Chr19:12897003	Conflicting classifications of pathogenicity	Glutaric aciduria, type 1 Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370059118	5 SubmittersRCV001247144 RCV001252002 RCV004034887
NM_000159.4(GCDH):c.852+1G>A	SNV Germline	Chr19:12896422	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1367214521	1 SubmittersRCV001238126
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)	SNV Germline	Chr19:12897848	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_760155287	3 SubmittersRCV001255208
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)	SNV Unknown	Chr19:12891519	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		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		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		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		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		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		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		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		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		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		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		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		rs_1970723970	2 SubmittersRCV001329661
NM_018129.4(PNPO):c.482G>A (p.Arg161His)	SNV Germline	Chr17:47945925	Conflicting classifications of pathogenicity	Pyridoxal phosphate-responsive seizures Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications		rs_770981773	2 SubmittersRCV001368622 RCV004526846
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		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		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		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		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		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		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		rs_2145952877	1 SubmittersRCV001385538
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln)	SNV Germline	Chr19:12897777	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_398123190	2 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		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		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		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		rs_968628450	3 SubmittersRCV001506972
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)	SNV Germline	Chr19:12891851	Pathogenic/Likely pathogenic	Condition: not provided Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_758646992	3 SubmittersRCV001563484 RCV001832767
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		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		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		rs_1970564149	2 SubmittersRCV001806292
NM_000159.4(GCDH):c.857C>T (p.Pro286Leu)	SNV Germline	Chr19:12896914	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1254396827	1 SubmittersRCV001899329
NM_000159.4(GCDH):c.262C>G (p.Arg88Gly)	SNV Germline	Chr19:12891965	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_142967670	1 SubmittersRCV001990342
NM_000159.4(GCDH):c.394C>T (p.Arg132Trp)	SNV Germline	Chr19:12893542	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_372429120	1 SubmittersRCV002036813
NM_000159.4(GCDH):c.446T>C (p.Met149Thr)	SNV Germline	Chr19:12893594	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2145944429	2 SubmittersRCV001960623
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		rs_2145950460	3 SubmittersRCV001945339 RCV003154220
NM_000159.4(GCDH):c.680G>T (p.Arg227Leu)	SNV Germline	Chr19:12896249	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_121434373	1 SubmittersRCV001996365
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		rs_746220312	5 SubmittersRCV001953810
NM_000159.4(GCDH):c.466G>A (p.Gly156Ser)	SNV Germline	Chr19:12893614	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_767351827	1 SubmittersRCV002036913
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		rs_2145954110	2 SubmittersRCV002017219
NM_000159.4(GCDH):c.535C>G (p.Leu179Val)	SNV Germline	Chr19:12896021	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_201714645	1 SubmittersRCV002012007
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln)	SNV Germline	Chr19:12896270	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1203022386	2 SubmittersRCV002022592
NM_000159.4(GCDH):c.511G>T (p.Gly171Trp)	SNV Germline	Chr19:12895997	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_2145950047	1 SubmittersRCV001869903
NM_000159.4(GCDH):c.398T>G (p.Val133Gly)	SNV Germline	Chr19:12893546	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		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		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		rs_2145953853	1 SubmittersRCV001942078
NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg)	SNV Germline	Chr19:12897743	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1348974766	1 SubmittersRCV001962908
NM_000159.4(GCDH):c.1244-1G>A	SNV Germline	Chr19:12899467	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1160507620	1 SubmittersRCV001942026
NM_000159.4(GCDH):c.278A>T (p.His93Leu)	SNV Germline	Chr19:12892122	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		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		rs_755054282	2 SubmittersRCV002031075 RCV003317573
NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly)	SNV Germline	Chr19:12897831	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1432619357	1 SubmittersRCV001957618
NM_000159.4(GCDH):c.1176T>G (p.Asn392Lys)	SNV Germline	Chr19:12897796	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_2145955099	1 SubmittersRCV001960526
NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys)	SNV Germline	Chr19:12893486	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		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 not specified	Criteria Provided Conflicting Classifications		rs_1970675873	3 SubmittersRCV001901565 RCV003490927
NM_000159.4(GCDH):c.275T>G (p.Phe92Cys)	SNV Germline	Chr19:12892119	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		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		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		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		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		rs_2145951375	2 SubmittersRCV001890759
NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr)	SNV Germline	Chr19:12897752	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter		rs_1442597198	1 SubmittersRCV001963579
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		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		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		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		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			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			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			3 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			2 SubmittersRCV003064557
NM_000159.4(GCDH):c.713T>C (p.Leu238Pro)	SNV Germline	Chr19:12896282	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003064559
NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)	SNV Germline	Chr19:12896402	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003064561
NM_000159.4(GCDH):c.901G>A (p.Val301Met)	SNV Germline	Chr19:12896958	Conflicting classifications of pathogenicity	not specified Glutaric aciduria, type 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV003479465 RCV003050530
NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)	SNV Germline	Chr19:12897839	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003041360
NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys)	SNV Germline	Chr19:12897858	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003041361
NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)	SNV Germline	Chr19:12896021	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003076183
NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)	SNV Germline	Chr19:12891960	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003084916
NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)	SNV Germline	Chr19:12891947	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			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			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			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			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			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			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			2 SubmittersRCV003021570
NM_000159.4(GCDH):c.1082+1G>A	SNV Germline	Chr19:12897429	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			1 SubmittersRCV003031954
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)	SNV Germline	Chr19:12896205	Pathogenic/Likely pathogenic	Inborn genetic diseases Glutaric aciduria, type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002840398 RCV003466004
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			2 SubmittersRCV003324309
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			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			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			1 SubmittersRCV003461678
NM_000159.4(GCDH):c.957-1G>C	SNV Unknown	Chr19:12897302	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			2 SubmittersRCV003468261
NM_000159.4(GCDH):c.853-1G>A	SNV Unknown	Chr19:12896909	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003468262
NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)	SNV Unknown	Chr19:12893559	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003461682
NM_000159.4(GCDH):c.272-2A>G	SNV Unknown	Chr19:12892114	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			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			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			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			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			1 SubmittersRCV003499878
NM_000159.4(GCDH):c.215G>T (p.Arg72Leu)	SNV Germline	Chr19:12891918	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003497351
NM_000159.4(GCDH):c.658G>T (p.Asp220Tyr)	SNV Germline	Chr19:12896227	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			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			2 SubmittersRCV003497354
NM_000159.4(GCDH):c.1168G>T (p.Gly390Trp)	SNV Germline	Chr19:12897788	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003497355
NM_000159.4(GCDH):c.1193A>G (p.Tyr398Cys)	SNV Germline	Chr19:12897813	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003497356
NM_000159.4(GCDH):c.1243+1G>C	SNV Germline	Chr19:12897864	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			1 SubmittersRCV003497358
NM_000159.4(GCDH):c.957-1G>T	SNV Germline	Chr19:12897302	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003498743
NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)	SNV Germline	Chr19:12891504	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003499499
NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)	SNV Germline	Chr19:12893497	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			2 SubmittersRCV003603235
NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)	SNV Germline	Chr19:12897806	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003603443
NM_000159.4(GCDH):c.334+1G>A	SNV Germline	Chr19:12892179	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003602549
NM_000159.4(GCDH):c.878C>T (p.Ala293Val)	SNV Germline	Chr19:12896935	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003602591
NM_000159.4(GCDH):c.1204C>G (p.Arg402Gly)	SNV Germline	Chr19:12897824	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003603751
NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)	SNV Germline	Chr19:12897406	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			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			1 SubmittersRCV003603546
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)	SNV Germline	Chr19:12896332	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003603992
NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)	SNV Germline	Chr19:12897421	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003821067
NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)	SNV Germline	Chr19:12896040	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003838014
NM_000159.4(GCDH):c.445A>G (p.Met149Val)	SNV Germline	Chr19:12893593	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003835110
NM_000159.4(GCDH):c.167T>C (p.Leu56Pro)	SNV Germline	Chr19:12891870	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003864224
NM_000159.4(GCDH):c.367T>C (p.Tyr123His)	SNV Germline	Chr19:12893515	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003873989
NM_000159.4(GCDH):c.1208A>G (p.His403Arg)	SNV Germline	Chr19:12897828	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003989055
NM_000159.4(GCDH):c.1060G>C (p.Gly354Arg)	SNV Germline	Chr19:12897406	Pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004527529
NM_000159.4(GCDH):c.1205G>C (p.Arg402Pro)	SNV Germline	Chr19:12897825	Likely pathogenic	Glutaric aciduria, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004527068

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

SNV
Germline

Chr19:12896940

Pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Single Submitter

CA252094

rs_121434366

2 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

12 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

20 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
Inborn genetic diseases
Primary ciliary dyskinesia 29

Criteria Provided
Multiple Submitters
No Conflicts

CA252097

rs_121434369

21 SubmittersRCV000002166 RCV000255833 RCV001813936 RCV002512670 RCV003447469

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

12 SubmittersRCV000002167 RCV000224528

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

SNV
Germline

Chr19:12897818

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252099

rs_121434372

14 SubmittersRCV000002169 RCV000224327 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

4 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/Likely 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

11 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

8 SubmittersRCV000169574 RCV000255875

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

SNV
Germline

Chr19:12891975

Pathogenic/Likely 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

8 SubmittersRCV000169460

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

SNV
Germline

Chr19:12893564

Pathogenic/Likely 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

3 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

11 SubmittersRCV000169226 RCV000480428

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

SNV
Germline

Chr19:12897406

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA274169

rs_768925619

5 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

6 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/Likely pathogenic

Glutaric aciduria, type 1
GCDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274339

rs_776082304

2 SubmittersRCV000169467 RCV003416053

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

SNV
Germline

Chr19:12896244

Pathogenic/Likely 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

11 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

9 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

10 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

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA351605

rs_869025299

2 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

6 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

9 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

9 SubmittersRCV000327109 RCV000672042

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

SNV
Germline

Chr19:12897764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9234619

rs_567564095

9 SubmittersRCV000521789 RCV000674015 RCV003409413

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

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

Criteria Provided
Conflicting Classifications

CA9234394

rs_146682905

6 SubmittersRCV001087940 RCV000735103 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

4 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/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041966

rs_898043081

5 SubmittersRCV000410967 RCV000760423

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

SNV
Unknown

Chr19:12893487

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

CA16041967

rs_768836114

1 SubmittersRCV000412155

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

SNV
Germline

Chr19:12893530

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9234380

rs_752334462

3 SubmittersRCV000409274

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

SNV
Germline

Chr19:12896000

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

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/Likely pathogenic

Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041971

rs_1057516344

6 SubmittersRCV000411040 RCV001556801

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

SNV
Germline

Chr19:12896908

Pathogenic/Likely 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/Likely 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

7 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

6 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

Criteria Provided
Conflicting Classifications

CA9234478

rs_188548539

4 SubmittersRCV000420558 RCV000906189 RCV003942451

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

SNV
Germline

Chr19:12896994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

11 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

6 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

5 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_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)

SNV
Germline

Chr19:43511460

Likely pathogenic

Ethylmalonic encephalopathy
Abnormality of the nervous system
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA406175487

rs_1555762722

5 SubmittersRCV000503577 RCV001814171 RCV004526691

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

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

CA404317460

rs_746388510

3 SubmittersRCV000531618 RCV004526700

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

3 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

Criteria Provided
Multiple Submitters
No Conflicts

CA9234590

rs_748275416

4 SubmittersRCV000551437

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

SNV
Germline

Chr19:12896211

Conflicting classifications of pathogenicity

not specified
Glutaric aciduria, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9234459

rs_142806397

4 SubmittersRCV000616616 RCV000634891 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

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Tyrosinemia type III

Criteria Provided
Conflicting Classifications

CA404317639

rs_1176799813

4 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

6 SubmittersRCV000634885 RCV000735163

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

SNV
Unknown

Chr19:12891307

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

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
Multiple Submitters
No Conflicts

rs_1197426645

2 SubmittersRCV000668267

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

SNV
Germline

Chr19:12891895

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1555749369

3 SubmittersRCV000668794

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

SNV
Germline

Chr19:12892178

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_758137643

2 SubmittersRCV000670206

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

SNV
Germline

Chr19:12897343

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_794726972

3 SubmittersRCV000672731

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

SNV
Germline

Chr19:12897768

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_764608975

4 SubmittersRCV000671613

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

SNV
Unknown

Chr19:12897429

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1555751109

1 SubmittersRCV000672676

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

SNV
Germline

Chr19:12899466

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_199999619

3 SubmittersRCV000668317

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

SNV
Unknown

Chr19:12897859

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_776082304

1 SubmittersRCV000669106

NM_000159.4(GCDH):c.1244-15A>G

SNV
Germline

Chr19:12899453

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_201407990

2 SubmittersRCV000665025

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

SNV
Germline

Chr19:12899510

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_745360675

5 SubmittersRCV000673919

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

SNV
Germline

Chr19:12899541

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555751995

2 SubmittersRCV000672866

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

SNV
Germline

Chr19:12892145

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1273164833

3 SubmittersRCV000665561

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

SNV
Germline

Chr19:12893485

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555749853

3 SubmittersRCV000673679

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

SNV
Germline

Chr19:12893564

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

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

rs_774526353

4 SubmittersRCV000672204

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

SNV
Germline

Chr19:12896269

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_964724051

5 SubmittersRCV000667870

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

SNV
Germline

Chr19:12897735

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_1555751240

3 SubmittersRCV000673771

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

SNV
Unknown

Chr19:12897789

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_778153326

2 SubmittersRCV000674107

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

SNV
Germline

Chr19:12899522

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_933624223

4 SubmittersRCV000672203

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

SNV
Germline

Chr19:12893585

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_1555749927

2 SubmittersRCV000671039

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

SNV
Germline

Chr19:12896209

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_1468636851

2 SubmittersRCV000666652

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

SNV
Germline

Chr19:12896930

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

rs_1328059662

3 SubmittersRCV000670161 RCV001731873

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

SNV
Germline

Chr19:12896967

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_373203481

3 SubmittersRCV000670621

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

SNV
Germline

Chr19:12897361

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_752234195

3 SubmittersRCV000671046

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

SNV
Unknown

Chr19:12897400

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1555751089

1 SubmittersRCV000670197

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

SNV
Unknown

Chr19:12897840

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

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

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

rs_1260580183

7 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

rs_1568429137

1 SubmittersRCV000696441

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

SNV
Germline

Chr19:12893534

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1568425945

1 SubmittersRCV000685014

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

SNV
Germline

Chr19:12896366

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
not specified

Criteria Provided
Conflicting Classifications

rs_771650894

2 SubmittersRCV000697955 RCV003117495

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

SNV
Germline

Chr19:12896270

Pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

rs_1203022386

1 SubmittersRCV000767352

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

SNV
Germline

Chr19:12897734

Pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

rs_771924230

1 SubmittersRCV000767353

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

SNV
Germline

Chr19:12897860

Pathogenic

Glutaric aciduria, type 1

No Assertion Criteria Provided

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

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780976048

7 SubmittersRCV001212105 RCV001814234 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

rs_200785120

5 SubmittersRCV000824091 RCV003987715

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

SNV
Germline

Chr19:12896039

Pathogenic

Glutaric aciduria, type 1
GCDH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_576948027

3 SubmittersRCV000818955 RCV003892753

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

SNV
Germline

Chr19:12896248

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_368357056

1 SubmittersRCV000815377

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

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

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

rs_933624223

3 SubmittersRCV000817710

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

SNV
Germline

Chr19:12891400

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_952356983

4 SubmittersRCV000802276

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

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143172809

5 SubmittersRCV000872004 RCV001726355 RCV002354672

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

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

rs_770537412

2 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

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

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

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

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

rs_776758971

2 SubmittersRCV001070239

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

SNV
Germline

Chr19:12893554

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1970604182

1 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

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

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

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

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

rs_367699815

3 SubmittersRCV001062215

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

SNV
Germline

Chr19:12896937

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1864390545

2 SubmittersRCV001066990

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

SNV
Germline

Chr19:12896938

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_775606471

6 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

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

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

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

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

rs_121434373

2 SubmittersRCV001223617

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

SNV
Germline

Chr19:12896365

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_745357523

1 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

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

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

rs_1473339589

3 SubmittersRCV001212983 RCV002245875

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

SNV
Germline

Chr19:12891948

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1568424857

1 SubmittersRCV001226285

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

SNV
Germline

Chr19:12893561

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_747370741

2 SubmittersRCV001238237

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

SNV
Germline

Chr19:12896417

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1970682343

1 SubmittersRCV001228058

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

SNV
Germline

Chr19:12896997

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

rs_768532620

2 SubmittersRCV001245375

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

SNV
Germline

Chr19:12897003

Conflicting classifications of pathogenicity

Glutaric aciduria, type 1
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370059118

5 SubmittersRCV001247144 RCV001252002 RCV004034887

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

SNV
Germline

Chr19:12896422

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1367214521

1 SubmittersRCV001238126

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

SNV
Germline

Chr19:12897848

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_760155287

3 SubmittersRCV001255208

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

SNV
Unknown

Chr19:12891519

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

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

rs_1970723970

2 SubmittersRCV001329661

NM_018129.4(PNPO):c.482G>A (p.Arg161His)

SNV
Germline

Chr17:47945925

Conflicting classifications of pathogenicity

Pyridoxal phosphate-responsive seizures
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

rs_770981773

2 SubmittersRCV001368622 RCV004526846

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

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

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

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

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

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

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

rs_2145952877

1 SubmittersRCV001385538

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

SNV
Germline

Chr19:12897777

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123190

2 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

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

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

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

rs_968628450

3 SubmittersRCV001506972

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

SNV
Germline

Chr19:12891851

Pathogenic/Likely pathogenic

Condition: not provided
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_758646992

3 SubmittersRCV001563484 RCV001832767

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

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

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

rs_1970564149

2 SubmittersRCV001806292

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

SNV
Germline

Chr19:12896914

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1254396827

1 SubmittersRCV001899329

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

SNV
Germline

Chr19:12891965

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_142967670

1 SubmittersRCV001990342

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

SNV
Germline

Chr19:12893542

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_372429120

1 SubmittersRCV002036813

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

SNV
Germline

Chr19:12893594

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145944429

2 SubmittersRCV001960623

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

rs_2145950460

3 SubmittersRCV001945339 RCV003154220

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

SNV
Germline

Chr19:12896249

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_121434373

1 SubmittersRCV001996365

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

rs_746220312

5 SubmittersRCV001953810

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

SNV
Germline

Chr19:12893614

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_767351827

1 SubmittersRCV002036913

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

rs_2145954110

2 SubmittersRCV002017219

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

SNV
Germline

Chr19:12896021

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_201714645

1 SubmittersRCV002012007

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

SNV
Germline

Chr19:12896270

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1203022386

2 SubmittersRCV002022592

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

SNV
Germline

Chr19:12895997

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_2145950047

1 SubmittersRCV001869903

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

SNV
Germline

Chr19:12893546

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

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

rs_2145953853

1 SubmittersRCV001942078

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

SNV
Germline

Chr19:12897743

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1348974766

1 SubmittersRCV001962908

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

SNV
Germline

Chr19:12899467

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1160507620

1 SubmittersRCV001942026

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

SNV
Germline

Chr19:12892122

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

rs_755054282

2 SubmittersRCV002031075 RCV003317573

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

SNV
Germline

Chr19:12897831

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1432619357

1 SubmittersRCV001957618

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

SNV
Germline

Chr19:12897796

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_2145955099

1 SubmittersRCV001960526

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

SNV
Germline

Chr19:12893486

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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
not specified

Criteria Provided
Conflicting Classifications

rs_1970675873

3 SubmittersRCV001901565 RCV003490927

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

SNV
Germline

Chr19:12892119

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

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

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

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

rs_2145951375

2 SubmittersRCV001890759

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

SNV
Germline

Chr19:12897752

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

rs_1442597198

1 SubmittersRCV001963579

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

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

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

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

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

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

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

3 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

2 SubmittersRCV003064557

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

SNV
Germline

Chr19:12896282

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064559

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

SNV
Germline

Chr19:12896402

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064561

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

SNV
Germline

Chr19:12896958

Conflicting classifications of pathogenicity

not specified
Glutaric aciduria, type 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003479465 RCV003050530

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

SNV
Germline

Chr19:12897839

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003041360

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

SNV
Germline

Chr19:12897858

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003041361

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

SNV
Germline

Chr19:12896021

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003076183

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

SNV
Germline

Chr19:12891960

Pathogenic/Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003084916

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

SNV
Germline

Chr19:12891947

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

2 SubmittersRCV003021570

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

SNV
Germline

Chr19:12897429

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV003031954

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

SNV
Germline

Chr19:12896205

Pathogenic/Likely pathogenic

Inborn genetic diseases
Glutaric aciduria, type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002840398 RCV003466004

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

2 SubmittersRCV003324309

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

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

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

1 SubmittersRCV003461678

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

SNV
Unknown

Chr19:12897302

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV003468261

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

SNV
Unknown

Chr19:12896909

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003468262

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

SNV
Unknown

Chr19:12893559

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003461682

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

SNV
Unknown

Chr19:12892114

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003499878

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

SNV
Germline

Chr19:12891918

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003497351

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

SNV
Germline

Chr19:12896227

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003497354

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

SNV
Germline

Chr19:12897788

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003497355

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

SNV
Germline

Chr19:12897813

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003497356

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

SNV
Germline

Chr19:12897864

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV003497358

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

SNV
Germline

Chr19:12897302

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003498743

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

SNV
Germline

Chr19:12891504

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003499499

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

SNV
Germline

Chr19:12893497

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV003603235

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

SNV
Germline

Chr19:12897806

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003603443

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

SNV
Germline

Chr19:12892179

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003602549

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

SNV
Germline

Chr19:12896935

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003602591

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

SNV
Germline

Chr19:12897824

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003603751

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

SNV
Germline

Chr19:12897406

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV003603546

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

SNV
Germline

Chr19:12896332

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003603992

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

SNV
Germline

Chr19:12897421

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003821067

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

SNV
Germline

Chr19:12896040

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003838014

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

SNV
Germline

Chr19:12893593

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003835110

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

SNV
Germline

Chr19:12891870

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003864224

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

SNV
Germline

Chr19:12893515

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003873989

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

SNV
Germline

Chr19:12897828

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003989055

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

SNV
Germline

Chr19:12897406

Pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004527529

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

SNV
Germline

Chr19:12897825

Likely pathogenic

Glutaric aciduria, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004527068