Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	SNV Germline	Chr6:49459415	Pathogenic/Likely pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA249725	rs_121918248	6 SubmittersRCV000001954 RCV000203362 RCV001376600 RCV001553684 RCV001831507
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)	SNV Germline	Chr6:49459154	Pathogenic/Likely pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA249727	rs_121918249	7 SubmittersRCV000001955 RCV000203407 RCV000374459 RCV001271724 RCV003114172
NM_000255.4(MMUT):c.278G>A (p.Arg93His)	SNV Germline	Chr6:49459189	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA249728	rs_121918251	11 SubmittersRCV000001957 RCV000175568 RCV000724019 RCV000780493
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	SNV Germline	Chr6:49431831	Pathogenic	METHYLMALONIC ACIDURIA, mut(-) TYPE Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA249729	rs_121918252	10 SubmittersRCV000001958 RCV000078445 RCV000174456 RCV000781613 RCV001276629
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	SNV Germline	Chr6:49440295	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA249730	rs_121918254	7 SubmittersRCV000001961 RCV000203390 RCV000427444 RCV001276633 RCV002271364
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	SNV Germline	Chr6:49457789	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA249731	rs_121918256	9 SubmittersRCV000001963 RCV000186055 RCV000203309 RCV000587363 RCV001271716
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)	SNV Germline	Chr6:49459145	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency not specified	Criteria Provided Multiple Submitters No Conflicts	CA249732	rs_121918257	12 SubmittersRCV000001964 RCV000203340 RCV001376644 RCV001192656 RCV001271723 RCV004018538
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)	SNV Germline	Chr2:71124445	Pathogenic	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Condition: not provided Inborn genetic diseases Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA339966	rs_111033538	11 SubmittersRCV000002434 RCV000598126 RCV002512676 RCV003486541
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	SNV Germline	Chr12:109561068	Pathogenic/Likely pathogenic	Methylmalonic aciduria, cblB type Condition: not provided Methylmalonic acidemia Inborn genetic diseases MMAB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA312714	rs_28941784	18 SubmittersRCV000003241 RCV000186017 RCV000296390 RCV002512694 RCV003398428
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	SNV Germline	Chr4:145639422	Pathogenic	Methylmalonic aciduria, cblA type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA340040	rs_104893846	7 SubmittersRCV000003308 RCV003155012
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	SNV Germline	Chr4:145639572	Pathogenic/Likely pathogenic	Methylmalonic aciduria, cblA type Condition: not provided Methylmalonic acidemia See cases MMAA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA312705	rs_104893851	24 SubmittersRCV000003310 RCV000186012 RCV000587855 RCV003128386 RCV003421899
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	SNV Germline	Chr16:89154148	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia Condition: not provided ACSF3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129703	rs_141090143	16 SubmittersRCV000024130 RCV000185751 RCV003407360
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)	SNV Germline	Chr16:89146003	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA129705	rs_387907118	5 SubmittersRCV000024131
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	SNV Germline	Chr16:89114436	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia Condition: not provided Methylmalonic acidemia ACSF3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129707	rs_150487794	12 SubmittersRCV000024132 RCV000185748 RCV001274019 RCV003415738
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	SNV Germline	Chr16:89145311	Conflicting classifications of pathogenicity	Combined malonic and methylmalonic acidemia Methylmalonic acidemia Condition: not provided	Criteria Provided Conflicting Classifications	CA129709	rs_138680796	8 SubmittersRCV000024133 RCV001274022 RCV001588825
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	SNV Germline	Chr16:89145312	Conflicting classifications of pathogenicity	Combined malonic and methylmalonic acidemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA129711	rs_387907119	6 SubmittersRCV000024134 RCV001531864 RCV003226167
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)	SNV Germline	Chr16:89102665	Conflicting classifications of pathogenicity	Combined malonic and methylmalonic acidemia not specified	Criteria Provided Conflicting Classifications	CA129715	rs_140986055	4 SubmittersRCV000024136 RCV003114202
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg)	SNV Germline	Chr16:89101274	Pathogenic	Combined malonic and methylmalonic acidemia	No Assertion Criteria Provided	CA129717	rs_387907121	1 SubmittersRCV000024137
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)	SNV Germline	Chr14:74292623	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblJ Condition: not provided Cobalamin C disease	Criteria Provided Conflicting Classifications	CA130166	rs_201777056	4 SubmittersRCV000030859 RCV000059785 RCV002265570
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys)	SNV Germline	Chr14:74289483	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	No Assertion Criteria Provided		rs_2080853826	1 SubmittersRCV000030862
NM_005334.3(HCFC1):c.-970T>C	SNV Germline	ChrX:153971810	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX	No Assertion Criteria Provided	CA130459	rs_398122908	1 SubmittersRCV000032896
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)	SNV Germline	ChrX:153963263	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	No Assertion Criteria Provided	CA130460	rs_318240758	2 SubmittersRCV000032897 RCV000059786
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	SNV Germline	ChrX:153964283	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Disorders of Intracellular Cobalamin Metabolism	Criteria Provided Multiple Submitters No Conflicts	CA144900	rs_397515485	5 SubmittersRCV000057506 RCV002513743
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	SNV Germline	ChrX:153964702	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Intellectual disability Condition: not provided Disorders of Intracellular Cobalamin Metabolism Cobalamin C disease	Criteria Provided Conflicting Classifications	CA144902	rs_397515486	6 SubmittersRCV000057507 RCV000224133 RCV000224484 RCV002513744 RCV001199845
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)	SNV Germline	ChrX:153964703	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Disorders of Intracellular Cobalamin Metabolism	No Assertion Criteria Provided	CA144904	rs_397515487	2 SubmittersRCV000057508 RCV002513745
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	SNV Germline	Chr6:49459376	Pathogenic	Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia See cases Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA249743	rs_398123278	10 SubmittersRCV000078448 RCV000175566 RCV000781612 RCV002251962 RCV001826711
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)	SNV Germline	ChrX:153960046	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA222863	rs_398124206	2 SubmittersRCV000081289 RCV003638617
NM_000255.4(MMUT):c.323G>A (p.Arg108His)	SNV Germline	Chr6:49459144	Pathogenic	Condition: not provided METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA235522	rs_483352778	9 SubmittersRCV000162231 RCV000502227 RCV000664555 RCV000781608 RCV001271722
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)	SNV Germline	ChrX:153955109	Conflicting classifications of pathogenicity	Condition: not provided not specified Methylmalonic acidemia with homocystinuria, type cblX HCFC1-related disorder	Criteria Provided Conflicting Classifications	CA231158	rs_201404751	8 SubmittersRCV000117215 RCV000599889 RCV001520721 RCV003952568
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)	SNV Germline	Chr12:11884541	Pathogenic/Likely pathogenic	Thrombocytopenia Hematologic neoplasm Thrombocytopenia 5 Condition: not provided Inborn genetic diseases ETV6-related disorder Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA175028	rs_724159946	7 SubmittersRCV000149803 RCV000157610 RCV003162607 RCV003372620 RCV003415987 RCV004526621
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	SNV Germline	Chr6:49451591	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA234287	rs_727504020	9 SubmittersRCV000179277 RCV000790701 RCV001193927 RCV001271707
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)	SNV Germline	ChrX:153949579	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA234106	rs_199953428	2 SubmittersRCV000153346 RCV002056033
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)	SNV Germline	Chr6:49459187	Pathogenic/Likely pathogenic	Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA234291	rs_727504022	6 SubmittersRCV000175567 RCV001535925 RCV001831956 RCV002307410
NM_032601.4(MCEE):c.102C>G (p.Pro34=)	SNV Germline	Chr2:71124482	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA201716	rs_146573280	6 SubmittersRCV000175960 RCV000642152 RCV001726020
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)	SNV Germline	Chr2:71110074	Conflicting classifications of pathogenicity	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA312696	rs_138436961	7 SubmittersRCV000203412 RCV000593824 RCV002282020
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)	SNV Germline	Chr2:71124406	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA312700	rs_147401037	6 SubmittersRCV000186009 RCV000203363 RCV000756325
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	SNV Germline	Chr4:145639526	Pathogenic	Condition: not provided Methylmalonic aciduria, cblA type Methylmalonic acidemia MMAA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA312703	rs_796051992	8 SubmittersRCV000186011 RCV000671866 RCV001420837 RCV003401020
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	SNV Germline	Chr4:145655165	Pathogenic	Condition: not provided Methylmalonic aciduria, cblA type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA312708	rs_571038432	5 SubmittersRCV000186014 RCV000203343 RCV001193917
NM_000255.4(MMUT):c.1560+1G>T	SNV Germline	Chr6:49447669	Pathogenic	Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_200019422	3 SubmittersRCV001193326 RCV001390791 RCV000669261
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	SNV Germline	Chr6:49451692	Pathogenic	Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA312764	rs_564069299	8 SubmittersRCV000186046 RCV000203318 RCV001271709 RCV001192655
NM_000255.4(MMUT):c.1084-10A>G	SNV Germline	Chr6:49451724	Pathogenic/Likely pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA312763	rs_777031588	8 SubmittersRCV000642162 RCV000732448 RCV001833111 RCV002509286
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)	SNV Germline	Chr6:49453686	Pathogenic/Likely pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312762	rs_796052002	5 SubmittersRCV000666436 RCV000589433 RCV001376629 RCV001835712
NM_000255.4(MMUT):c.753+2T>A	SNV Germline	Chr6:49457689	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_796052006	6 SubmittersRCV000672182 RCV000781610 RCV001852417
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	SNV Germline	Chr6:49457762	Pathogenic	Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312778	rs_200596762	8 SubmittersRCV000186056 RCV000666877 RCV001192657 RCV001271714
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	SNV Germline	Chr6:49457872	Pathogenic	Condition: not provided Methylmalonic acidemia Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA312777	rs_760782399	11 SubmittersRCV000186054 RCV000585983 RCV000203406 RCV001271719 RCV001814093
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)	SNV Germline	Chr12:109557081	Pathogenic	Methylmalonic aciduria, cblB type Condition: not provided Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA312718	rs_369296618	8 SubmittersRCV000190603 RCV000420410 RCV000780427
NM_052845.4(MMAB):c.569G>A (p.Arg190His)	SNV Germline	Chr12:109561055	Pathogenic/Likely pathogenic	Condition: not provided Methylmalonic aciduria, cblB type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA312716	rs_756414548	7 SubmittersRCV000186018 RCV000203392 RCV001420745
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)	SNV Germline	Chr16:89100682	Conflicting classifications of pathogenicity	Condition: not provided Combined malonic and methylmalonic acidemia ACSF3-related disorder	Criteria Provided Conflicting Classifications	CA312305	rs_370382601	4 SubmittersRCV000185752 RCV002282016 RCV003416112
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	SNV Germline	Chr16:89101029	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_757905943	2 SubmittersRCV001380117
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)	SNV Germline	Chr16:89101270	Conflicting classifications of pathogenicity	Condition: not provided Combined malonic and methylmalonic acidemia	Criteria Provided Conflicting Classifications	CA312312	rs_761573352	2 SubmittersRCV000185756 RCV002516960
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	SNV Germline	Chr16:89145306	Conflicting classifications of pathogenicity	not specified Condition: not provided Combined malonic and methylmalonic acidemia ACSF3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA312301	rs_144681140	8 SubmittersRCV000185749 RCV000658756 RCV000660548 RCV003977489 RCV004020249
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)	SNV Germline	ChrX:153955043	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX not specified	Criteria Provided Conflicting Classifications	CA204892	rs_782727601	4 SubmittersRCV000190805 RCV001814098 RCV001818463
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)	SNV Germline	ChrX:153954709	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA206502	rs_782484757	2 SubmittersRCV000193189 RCV002054266
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)	SNV Germline	ChrX:153954907	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided HCFC1-related disorder	Criteria Provided Conflicting Classifications	CA209474	rs_376049260	7 SubmittersRCV000194960 RCV000638561 RCV001726038 RCV003947606
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)	SNV Germline	ChrX:153955273	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA208007	rs_782501125	2 SubmittersRCV000194081 RCV003522945
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)	SNV Germline	ChrX:153956356	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA209573	rs_374223163	2 SubmittersRCV000195023 RCV001400453
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)	SNV Germline	ChrX:153956951	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA207556	rs_371411952	2 SubmittersRCV000193817 RCV003522944
NM_005334.3(HCFC1):c.1084+8C>T	SNV Germline	ChrX:153960227	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA209242	rs_367698803	2 SubmittersRCV000194817 RCV003638641
NM_005334.3(HCFC1):c.984C>T (p.Val328=)	SNV Germline	ChrX:153960335	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA206536	rs_782409511	2 SubmittersRCV000193208 RCV003638642
NM_052845.4(MMAB):c.584G>A (p.Arg195His)	SNV Germline	Chr12:109561040	Conflicting classifications of pathogenicity	Methylmalonic aciduria, cblB type Methylmalonic acidemia	Criteria Provided Conflicting Classifications	CA278556	rs_756195708	5 SubmittersRCV000202574 RCV000780426
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	SNV Germline	Chr4:145639203	Pathogenic	Methylmalonic aciduria, cblA type Condition: not provided Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA347868	rs_765799472	7 SubmittersRCV000203329 RCV000488986 RCV000590153
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	SNV Germline	Chr4:145646073	Pathogenic/Likely pathogenic	Methylmalonic aciduria, cblA type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA347870	rs_140356252	5 SubmittersRCV000203334 RCV001804942
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	SNV Germline	Chr4:145646076	Likely pathogenic	Methylmalonic aciduria, cblA type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA347896	rs_864309730	3 SubmittersRCV000203378 RCV002509299
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	SNV Germline	Chr6:49431802	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA347913	rs_779990936	11 SubmittersRCV000203410 RCV000725155 RCV001276628 RCV001193329 RCV001814114
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	SNV Germline	Chr6:49435500	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347907	rs_777758903	9 SubmittersRCV000203399 RCV000589534 RCV001376607 RCV001833170
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	SNV Germline	Chr6:49451518	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347873	rs_753288303	7 SubmittersRCV000203344 RCV000723412 RCV000588430 RCV001271706
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)	SNV Germline	Chr6:49451693	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347895	rs_772552898	8 SubmittersRCV000203377 RCV000414057 RCV001193325 RCV001271710
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	SNV Germline	Chr6:49457837	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA347872	rs_778702777	7 SubmittersRCV000203339 RCV001091103 RCV001833168 RCV003317150
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)	SNV Germline	Chr6:49459448	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA347859	rs_761773115	3 SubmittersRCV000203322 RCV001293610 RCV003556256
NM_052845.4(MMAB):c.291-1G>A	SNV Germline	Chr12:109565177	Pathogenic	Methylmalonic aciduria, cblB type Condition: not provided Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA347875	rs_199971687	9 SubmittersRCV000203348 RCV000727663 RCV001194232
NM_052845.4(MMAB):c.197-1G>T	SNV Germline	Chr12:109568864	Pathogenic	Methylmalonic aciduria, cblB type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA347865	rs_763935916	11 SubmittersRCV000203326 RCV000590462
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)	SNV Germline	ChrX:153952053	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Single Submitter	CA353443	rs_869312686	1 SubmittersRCV000209921
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)	SNV Germline	ChrX:153959817	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10557513	rs_782010359	4 SubmittersRCV000224972 RCV000493756 RCV002516244
NM_005050.4(ABCD4):c.542+1G>T	SNV Germline	Chr14:74296332	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7267187	rs_769364566	3 SubmittersRCV000030861 RCV000373583
NM_032601.4(MCEE):c.312T>G (p.Arg104=)	SNV Germline	Chr2:71124272	Conflicting classifications of pathogenicity	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency not specified	Criteria Provided Conflicting Classifications	CA1702605	rs_142838031	3 SubmittersRCV000293738 RCV000608296
NM_172250.3(MMAA):c.630A>G (p.Pro210=)	SNV Germline	Chr4:145646053	Conflicting classifications of pathogenicity	not specified Condition: not provided Methylmalonic aciduria, cblA type Methylmalonic acidemia	Criteria Provided Conflicting Classifications	CA3095223	rs_374347679	6 SubmittersRCV000443202 RCV000886941 RCV001084213 RCV001273689
NM_052845.4(MMAB):c.-9G>T	SNV Germline	Chr12:109573489	Conflicting classifications of pathogenicity	Methylmalonic acidemia not specified Methylmalonic aciduria, cblB type	Criteria Provided Conflicting Classifications	CA6779099	rs_554831769	3 SubmittersRCV000402027 RCV000600720 RCV001833453
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)	SNV Germline	Chr14:74300166	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7267331	rs_147446660	4 SubmittersRCV000414128 RCV001034174 RCV002523924
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)	SNV Germline	ChrX:153953629	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10556985	rs_782407440	3 SubmittersRCV000412955 RCV003522964
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)	SNV Germline	Chr14:74290035	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications	CA7266821	rs_45568335	6 SubmittersRCV000443723 RCV000763942
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	SNV Germline	Chr16:89145370	Conflicting classifications of pathogenicity	Condition: not provided Combined malonic and methylmalonic acidemia not specified	Criteria Provided Conflicting Classifications	CA8238230	rs_147538370	8 SubmittersRCV000444454 RCV001245382 RCV002282137
NM_005050.4(ABCD4):c.1753-18G>A	SNV Germline	Chr14:74286547	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications	CA7266581	rs_772567988	2 SubmittersRCV000426981 RCV002525362
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)	SNV Germline	Chr14:74293217	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ ABCD4-related disorder	Criteria Provided Conflicting Classifications	CA7267070	rs_141868117	4 SubmittersRCV000423379 RCV001083323 RCV003959901
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	SNV Germline	Chr16:89146044	Pathogenic/Likely pathogenic	Condition: not provided Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA8238301	rs_201954387	6 SubmittersRCV000426583 RCV001062791
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)	SNV Germline	ChrX:153952117	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10556872	rs_782467999	2 SubmittersRCV000443814 RCV003522979
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)	SNV Germline	Chr16:67842794	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblX Disorders of Intracellular Cobalamin Metabolism	Criteria Provided Single Submitter	CA396396088	rs_188675529	2 SubmittersRCV000498990 RCV002522728
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	SNV Germline	Chr14:74288757	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7266765	rs_139901585	7 SubmittersRCV000755203 RCV000820142 RCV002526975
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)	SNV Germline	ChrX:153952837	Conflicting classifications of pathogenicity	not specified Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10556937	rs_781788935	3 SubmittersRCV000482310 RCV000766506 RCV002526976
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	SNV Germline	Chr6:49440273	Pathogenic/Likely pathogenic	Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA3846717	rs_143023066	5 SubmittersRCV000489642 RCV000666698 RCV001844176
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	SNV Germline	Chr6:49457990	Pathogenic	Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3847107	rs_780068818	6 SubmittersRCV000489927 RCV000667884 RCV001192658 RCV001271720
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)	SNV Germline	Chr16:89114389	Pathogenic/Likely pathogenic	Condition: not provided Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts	CA397140398	rs_1131691498	3 SubmittersRCV000494593 RCV003476188
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)	SNV Germline	ChrX:153954553	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10557126	rs_372301724	2 SubmittersRCV000503750 RCV001399716
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)	SNV Germline	ChrX:153960032	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications	CA10557538	rs_782047045	2 SubmittersRCV000499852 RCV003638674
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu)	SNV Germline	Chr16:89101226	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia Combined malonic and methylmalonic acidemia	Criteria Provided Conflicting Classifications	CA8237688	rs_145470870	3 SubmittersRCV000514315 RCV001274016 RCV002524998
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)	SNV Germline	ChrX:153954507	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10557117	rs_781949446	3 SubmittersRCV000522865 RCV001314423 RCV002527603
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	SNV Germline	Chr4:145646009	Pathogenic	Methylmalonic aciduria, cblA type Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA107725374	rs_1029096863	9 SubmittersRCV000545383 RCV001193915 RCV001584283
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	SNV Germline	Chr4:145651070	Pathogenic	Methylmalonic acidemia Methylmalonic aciduria, cblA type	Criteria Provided Multiple Submitters No Conflicts	CA3095257	rs_757548934	3 SubmittersRCV000586897 RCV001240486
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)	SNV Germline	Chr6:49453643	Pathogenic	Methylmalonic acidemia Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3846982	rs_770466993	3 SubmittersRCV000587657 RCV000665393 RCV001389293
NM_000255.4(MMUT):c.1083+2T>A	SNV Germline	Chr6:49453583	Pathogenic	Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3846974	rs_746085723	2 SubmittersRCV000586630 RCV003558446
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	SNV Germline	Chr6:49448861	Pathogenic	Methylmalonic acidemia Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3846893	rs_774159791	6 SubmittersRCV000587544 RCV000664980 RCV001271704 RCV001381507
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	SNV Germline	Chr16:89114442	Conflicting classifications of pathogenicity	Combined malonic and methylmalonic acidemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8237955	rs_145285434	8 SubmittersRCV000649671 RCV001093042 RCV002307575
NM_000255.4(MMUT):c.1677-1G>A	SNV Germline	Chr6:49441972	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_754369323	5 SubmittersRCV000664627 RCV001193330 RCV001276634 RCV001383400
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	SNV Germline	Chr6:49457774	Pathogenic/Likely pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554160638	6 SubmittersRCV000668034 RCV000760390 RCV001835087 RCV001805790
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	SNV Germline	Chr6:49440316	Pathogenic/Likely pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_765284825	6 SubmittersRCV000666577 RCV001388780 RCV001829835 RCV001805788
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	SNV Germline	Chr6:49441907	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1238694184	6 SubmittersRCV000670351 RCV001193331 RCV001200471 RCV001829864
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	SNV Germline	Chr6:49447749	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_764173488	3 SubmittersRCV000666288 RCV001193327 RCV001380235
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	SNV Germline	Chr6:49448840	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_887126161	4 SubmittersRCV000670581 RCV001193332 RCV001376565 RCV001271703
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	SNV Germline	Chr6:49456141	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_761477436	8 SubmittersRCV000669279 RCV000781609 RCV001376630 RCV001829855
NM_000255.4(MMUT):c.1677-1G>C	SNV Germline	Chr6:49441972	Pathogenic/Likely pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_754369323	5 SubmittersRCV000673042 RCV001269118 RCV002531330
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	SNV Germline	Chr6:49447699	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_761525156	8 SubmittersRCV000672079 RCV000781614 RCV001198994 RCV001830454
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	SNV Germline	Chr6:49451511	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1346775255	4 SubmittersRCV000669883 RCV001376628 RCV001830442 RCV002282308
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	SNV Germline	Chr12:109561067	Conflicting classifications of pathogenicity	Methylmalonic aciduria, cblB type Methylmalonic acidemia	Criteria Provided Conflicting Classifications		rs_773059864	5 SubmittersRCV000667435 RCV004017714
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	SNV Germline	Chr12:109561485	Pathogenic/Likely pathogenic	Methylmalonic aciduria, cblB type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_557884699	4 SubmittersRCV000666211 RCV001194231
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	SNV Germline	Chr6:49435554	Conflicting classifications of pathogenicity	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia MMUT-related disorder	Criteria Provided Conflicting Classifications		rs_147715336	7 SubmittersRCV000696572 RCV001376641 RCV003230575 RCV003403616
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)	SNV Germline	Chr14:74287858	Pathogenic/Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ Cobalamin C disease	Criteria Provided Multiple Submitters No Conflicts		rs_767795583	3 SubmittersRCV000707417 RCV002265867
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	SNV Germline	Chr16:89145305	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_748382994	3 SubmittersRCV000690332
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)	SNV Germline	ChrX:153954246	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_781783048	2 SubmittersRCV000706024
NM_001243279.3(ACSF3):c.1502-2A>G	SNV Germline	Chr16:89145936	Pathogenic/Likely pathogenic	Condition: not provided Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1188774860	3 SubmittersRCV000735190 RCV001048461
NM_000255.4(MMUT):c.753+1G>A	SNV Germline	Chr6:49457690	Pathogenic/Likely pathogenic	Methylmalonic acidemia Condition: not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1028877309	3 SubmittersRCV000781611 RCV001386687 RCV002493428
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	SNV Germline	Chr6:49459186	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_535411418	6 SubmittersRCV000814597 RCV001091104 RCV001264490 RCV001825635
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	SNV Germline	Chr16:89101132	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_752338222	2 SubmittersRCV000796173
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	SNV Germline	Chr16:89102626	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_145583876	3 SubmittersRCV000795961
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)	SNV Germline	Chr16:89112097	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_570233664	1 SubmittersRCV000801009
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)	SNV Germline	Chr16:89133196	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_766764090	2 SubmittersRCV000792573
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)	SNV Germline	ChrX:153954836	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782473277	2 SubmittersRCV000821405 RCV002537503
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)	SNV Germline	Chr16:89100967	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_1975233179	1 SubmittersRCV001044905
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)	SNV Germline	Chr16:89101105	Pathogenic	Combined malonic and methylmalonic acidemia Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_142575695	3 SubmittersRCV001041671 RCV001274015
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	SNV Germline	Chr16:89133206	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1243213118	3 SubmittersRCV001047795
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	SNV Germline	Chr16:89145971	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1450563045	2 SubmittersRCV001046509
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)	SNV Germline	Chr16:89146009	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_767958353	1 SubmittersRCV001057166
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)	SNV Germline	Chr16:89146043	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_779820462	2 SubmittersRCV001039227
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)	SNV Germline	ChrX:153954904	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications		rs_373327413	3 SubmittersRCV001043826 RCV003438654
NM_005050.4(ABCD4):c.426-4C>G	SNV Germline	Chr14:74296453	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications		rs_765378243	2 SubmittersRCV001092315 RCV003769024
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)	SNV Germline	ChrX:153954803	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_1273500868	2 SubmittersRCV001093007 RCV002557966
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)	SNV Germline	Chr2:71124420	Conflicting classifications of pathogenicity	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Criteria Provided Conflicting Classifications		rs_374147386	2 SubmittersRCV001140354
NM_032601.4(MCEE):c.66C>T (p.Pro22=)	SNV Germline	Chr2:71124518	Conflicting classifications of pathogenicity	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Criteria Provided Conflicting Classifications		rs_151148238	2 SubmittersRCV001142212
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)	SNV Germline	Chr14:74290302	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200761248	4 SubmittersRCV001200594 RCV002561077 RCV003363148
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	SNV Germline	Chr16:89102627	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1432097143	2 SubmittersRCV001204919
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	SNV Germline	Chr16:89102718	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_746877433	4 SubmittersRCV001213816
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	SNV Germline	Chr16:89101089	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1313088429	2 SubmittersRCV001229626
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	SNV Germline	Chr16:89112096	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_759338401	3 SubmittersRCV001232362
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)	SNV Germline	ChrX:153952723	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1252960661	2 SubmittersRCV001231378 RCV003246783
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)	SNV Germline	ChrX:153951444	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications		rs_1342469676	2 SubmittersRCV001248497 RCV001814290
NM_005050.4(ABCD4):c.719+2T>G	SNV Germline	Chr14:74295146	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter		rs_2082518811	1 SubmittersRCV001254054
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)	SNV Germline	Chr14:74295966	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Conflicting Classifications		rs_1410990711	2 SubmittersRCV001254055
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)	SNV Germline	Chr6:49458022	Likely pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Condition: not provided Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_565348836	3 SubmittersRCV001257407 RCV003558770 RCV004526821
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)	SNV Germline	ChrX:153962271	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_782385961	2 SubmittersRCV001266994 RCV002537694
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)	SNV Germline	ChrX:153962297	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX Condition: not provided	Criteria Provided Conflicting Classifications		rs_782354655	3 SubmittersRCV001265667 RCV001880094 RCV002261329
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	SNV Germline	Chr16:89100724	Conflicting classifications of pathogenicity	Methylmalonic acidemia Combined malonic and methylmalonic acidemia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_375374971	4 SubmittersRCV001278422 RCV002499471 RCV002541683
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)	SNV Germline	Chr16:89100875	Conflicting classifications of pathogenicity	Methylmalonic acidemia Combined malonic and methylmalonic acidemia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_745633046	3 SubmittersRCV001278432 RCV002537793 RCV004035471
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)	SNV Germline	Chr16:89133230	Conflicting classifications of pathogenicity	Methylmalonic acidemia Combined malonic and methylmalonic acidemia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_142092069	4 SubmittersRCV001280410 RCV003479307 RCV004035510
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)	SNV Germline	Chr16:89154149	Conflicting classifications of pathogenicity	Methylmalonic acidemia Combined malonic and methylmalonic acidemia	Criteria Provided Conflicting Classifications		rs_140328142	3 SubmittersRCV001280422 RCV002499489
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)	SNV Germline	Chr6:49451522	Pathogenic/Likely pathogenic	Condition: not provided Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_769922244	3 SubmittersRCV001812948 RCV003317472
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)	SNV Germline	Chr16:89145301	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1912700120	2 SubmittersRCV001330531
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	SNV Germline	Chr16:89145972	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1025201214	3 SubmittersRCV001330534
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	SNV Germline	ChrX:153952890	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_371874117	2 SubmittersRCV001334385
NM_001243279.3(ACSF3):c.978-1G>A	SNV Germline	Chr16:89114338	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_756599931	2 SubmittersRCV001378316
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)	SNV Germline	Chr16:89114436	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_150487794	1 SubmittersRCV001378855
NM_001243279.3(ACSF3):c.1126+1G>A	SNV Germline	Chr16:89114488	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_916461556	3 SubmittersRCV001377030
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	SNV Germline	Chr4:145639573	Pathogenic/Likely pathogenic	Methylmalonic aciduria, cblA type Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_200577967	4 SubmittersRCV001386117 RCV003388009
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)	SNV Germline	Chr6:49451503	Pathogenic/Likely pathogenic	Condition: not provided Methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1297307718	2 SubmittersRCV001389292 RCV003331146
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)	SNV Germline	Chr16:89100919	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia ACSF3-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_138156311	3 SubmittersRCV001384669 RCV003399204
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)	SNV Germline	Chr16:89101257	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_771558691	2 SubmittersRCV001384302
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)	SNV Germline	Chr16:89102757	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_2151416957	2 SubmittersRCV001383440
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	SNV Germline	Chr16:89112160	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_2151444797	4 SubmittersRCV001380093
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)	SNV Germline	Chr16:89133207	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_1909702747	1 SubmittersRCV001380278
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)	SNV Germline	Chr16:89154147	Conflicting classifications of pathogenicity	Combined malonic and methylmalonic acidemia	Criteria Provided Conflicting Classifications		rs_747338200	2 SubmittersRCV001460962
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)	SNV Germline	Chr16:89146016	Pathogenic/Likely pathogenic	Condition: not provided Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1457774840	5 SubmittersRCV001547341 RCV001826392
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)	SNV Germline	Chr16:89101072	Conflicting classifications of pathogenicity	Combined malonic and methylmalonic acidemia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_144411003	2 SubmittersRCV001559236 RCV002568387
NM_001243279.3(ACSF3):c.666+1G>A	SNV Germline	Chr16:89101348	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1336382616	2 SubmittersRCV001783134
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)	SNV Germline	Chr16:89154149	Conflicting classifications of pathogenicity	Combined malonic and methylmalonic acidemia not specified	Criteria Provided Conflicting Classifications		rs_140328142	2 SubmittersRCV001785880 RCV002282576
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)	SNV Germline	ChrX:153950358	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_2065298662	2 SubmittersRCV001817492 RCV002077287
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)	SNV Germline	ChrX:153954347	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications		rs_111385795	2 SubmittersRCV001844619 RCV003638823
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)	SNV Germline	ChrX:153954795	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_1439756712	3 SubmittersRCV002004490 RCV003170133 RCV003438907
NM_001243279.3(ACSF3):c.977+1G>C	SNV Germline	Chr16:89112247	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_141056046	2 SubmittersRCV002039124
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter)	SNV Germline	Chr16:89154119	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_139520739	1 SubmittersRCV001902891
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)	SNV Germline	Chr16:89101264	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1366314967	2 SubmittersRCV001941649
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)	SNV Germline	Chr16:89102754	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_749538361	2 SubmittersRCV002007207
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)	SNV Germline	Chr16:89101089	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1313088429	2 SubmittersRCV001932674
NM_001243279.3(ACSF3):c.822+1G>A	SNV Germline	Chr16:89102760	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_2151416991	2 SubmittersRCV002015363
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)	SNV Germline	Chr6:49440315	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia	Criteria Provided Conflicting Classifications		rs_1369724342	2 SubmittersRCV002019419 RCV003402032
NM_001243279.3(ACSF3):c.1613+1G>A	SNV Germline	Chr16:89146050	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_770400253	2 SubmittersRCV001898971
NM_001243279.3(ACSF3):c.1613+2T>C	SNV Germline	Chr16:89146051	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_2151564932	1 SubmittersRCV001958998
NM_001243279.3(ACSF3):c.822+2T>C	SNV Germline	Chr16:89102761	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts		rs_1975502704	2 SubmittersRCV002043777
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)	SNV Germline	Chr16:89100992	Conflicting classifications of pathogenicity	not specified Combined malonic and methylmalonic acidemia	Criteria Provided Conflicting Classifications		rs_1378197369	2 SubmittersRCV002223066 RCV003464406
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter)	SNV Germline	Chr16:89101084	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter		rs_752534981	1 SubmittersRCV002266181
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)	SNV Germline	Chr6:49456129	Pathogenic/Likely pathogenic	Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1179778233	2 SubmittersRCV002266258 RCV003096020
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)	SNV Germline	Chr6:49453590	Likely pathogenic	Methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV002308614
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)	SNV Germline	Chr16:89133199	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002308699
NM_001243279.3(ACSF3):c.978-2A>G	SNV Germline	Chr16:89114337	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003086280
NM_001243279.3(ACSF3):c.977+1G>A	SNV Germline	Chr16:89112247	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003090313
NM_005334.3(HCFC1):c.193+16G>T	SNV Germline	ChrX:153970632	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV002510306 RCV003775561
NM_001243279.3(ACSF3):c.1501+1G>T	SNV Germline	Chr16:89145402	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002580689
NM_001243279.3(ACSF3):c.667-2A>G	SNV Germline	Chr16:89102602	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002609209
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)	SNV Germline	Chr16:89112209	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002658411
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)	SNV Germline	Chr16:89120846	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002800372
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)	SNV Germline	Chr16:89114390	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV002774978
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)	SNV Germline	Chr16:89154108	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV002791548
NM_001243279.3(ACSF3):c.1240-1G>C	SNV Germline	Chr16:89133135	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV002806919
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)	SNV Germline	Chr16:89120893	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV002876401
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)	SNV Germline	ChrX:153955427	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV002922791
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)	SNV Germline	Chr16:89154121	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002966620
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)	SNV Germline	ChrX:153950521	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003002280 RCV003002279
NM_001243279.3(ACSF3):c.667-1G>T	SNV Germline	Chr16:89102603	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003017872
NM_001243279.3(ACSF3):c.1366+1G>A	SNV Germline	Chr16:89133263	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003042309
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)	SNV Germline	Chr16:89101129	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003017438
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)	SNV Germline	Chr16:89112197	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003049618
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)	SNV Germline	Chr16:89120857	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003027386
NM_001243279.3(ACSF3):c.666+1G>T	SNV Germline	Chr16:89101348	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003024886
NM_001243279.3(ACSF3):c.1614-2A>G	SNV Germline	Chr16:89154088	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003143976
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)	SNV Germline	ChrX:153955139	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003131101
NM_032601.4(MCEE):c.379-644A>G	SNV Germline	Chr2:71110766	Likely pathogenic	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Criteria Provided Single Submitter			2 SubmittersRCV003152404
NM_001243279.3(ACSF3):c.1239+2T>G	SNV Germline	Chr16:89120915	Pathogenic	Combined malonic and methylmalonic acidemia	No Assertion Criteria Provided			1 SubmittersRCV003315470
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)	SNV Germline	Chr6:49435547	Likely pathogenic	Methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003317720
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)	SNV Germline	ChrX:153954554	Conflicting classifications of pathogenicity	not specified Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003317878 RCV003638937
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)	SNV Germline	ChrX:153954641	Conflicting classifications of pathogenicity	Inborn genetic diseases Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003349152 RCV003523162
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)	SNV Germline	ChrX:153951988	Conflicting classifications of pathogenicity	HCFC1-related disorder Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003419150 RCV003638953
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)	SNV Germline	ChrX:153954910	Conflicting classifications of pathogenicity	HCFC1-related disorder Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003418775 RCV003638951
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)	SNV Germline	ChrX:153952817	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003432646 RCV003638959
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)	SNV Germline	ChrX:153954423	Conflicting classifications of pathogenicity	Condition: not provided Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003440015 RCV003778462
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)	SNV Unknown	Chr16:89101315	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003460333
NM_001243279.3(ACSF3):c.1240-1G>A	SNV Unknown	Chr16:89133135	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003460358
NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)	SNV Unknown	Chr16:89100800	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003460375
NM_001243279.3(ACSF3):c.1501+1G>A	SNV Germline	Chr16:89145402	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003474488
NM_001243279.3(ACSF3):c.1366+1G>T	SNV Unknown	Chr16:89133263	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003474491
NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)	SNV Unknown	Chr16:89133220	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003474528
NM_001243279.3(ACSF3):c.1239+1G>A	SNV Unknown	Chr16:89120914	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003474540
NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)	SNV Unknown	Chr16:89100897	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003475613
NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)	SNV Unknown	Chr16:89101165	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003475625
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)	SNV Germline	Chr16:89112178	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003475629
NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)	SNV Unknown	Chr16:89120877	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003475641
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)	SNV Germline	Chr16:89101256	Pathogenic/Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003475649
NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)	SNV Unknown	Chr16:89112098	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003460385
NM_001243279.3(ACSF3):c.977+1G>T	SNV Germline	Chr16:89112247	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003466676
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)	SNV Germline	Chr6:49453595	Pathogenic/Likely pathogenic	Methylmalonic acidemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003479815 RCV003553994
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)	SNV Germline	ChrX:153960380	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX	Criteria Provided Conflicting Classifications			2 SubmittersRCV003486110
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)	SNV Germline	Chr14:74287840	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003531448
NM_005050.4(ABCD4):c.1457-1G>C	SNV Germline	Chr14:74288766	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003534209
NM_001243279.3(ACSF3):c.1127-2A>T	SNV Germline	Chr16:89120799	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003527941
NM_032601.4(MCEE):c.40+1G>T	SNV Germline	Chr2:71130179	Likely pathogenic	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499455
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)	SNV Germline	Chr16:89100865	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003643745
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)	SNV Germline	Chr14:74289501	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003648439
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)	SNV Germline	Chr16:89145300	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003644208
NM_001243279.3(ACSF3):c.1502-1G>C	SNV Germline	Chr16:89145937	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003644329
NM_001243279.3(ACSF3):c.823-1G>A	SNV Germline	Chr16:89112091	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003642471
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)	SNV Germline	ChrX:153958616	Conflicting classifications of pathogenicity	Methylmalonic acidemia with homocystinuria, type cblX Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003639256 RCV004374311
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)	SNV Germline	Chr16:89112173	Pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV003872517
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)	SNV Germline	Chr14:74296421	Pathogenic	Methylmalonic acidemia with homocystinuria, type cblJ	Criteria Provided Single Submitter			1 SubmittersRCV003873123
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)	SNV Germline	ChrX:153950542	Likely pathogenic	Methylmalonic acidemia with homocystinuria, type cblX	No Assertion Criteria Provided			1 SubmittersRCV003985697
NM_001243279.3(ACSF3):c.1632C>G (p.Tyr544Ter)	SNV Unknown	Chr16:89154108	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV004575451
NM_001243279.3(ACSF3):c.1367-2A>C	SNV Unknown	Chr16:89145265	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV004575453
NM_001243279.3(ACSF3):c.696G>A (p.Trp232Ter)	SNV Unknown	Chr16:89102633	Likely pathogenic	Combined malonic and methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV004575475
NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)	SNV Germline	Chr4:145651100	Likely pathogenic	Methylmalonic acidemia	Criteria Provided Single Submitter			1 SubmittersRCV004579650

SNV
Germline

Chr6:49459415

Pathogenic/Likely pathogenic

METHYLMALONIC ACIDURIA, mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA249725

rs_121918248

6 SubmittersRCV000001954 RCV000203362 RCV001376600 RCV001553684 RCV001831507

NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)

SNV
Germline

Chr6:49459154

Pathogenic/Likely pathogenic

METHYLMALONIC ACIDURIA, mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA249727

rs_121918249

7 SubmittersRCV000001955 RCV000203407 RCV000374459 RCV001271724 RCV003114172

NM_000255.4(MMUT):c.278G>A (p.Arg93His)

SNV
Germline

Chr6:49459189

Pathogenic

METHYLMALONIC ACIDURIA, mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA249728

rs_121918251

11 SubmittersRCV000001957 RCV000175568 RCV000724019 RCV000780493

NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)

SNV
Germline

Chr6:49431831

Pathogenic

METHYLMALONIC ACIDURIA, mut(-) TYPE
Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA249729

rs_121918252

10 SubmittersRCV000001958 RCV000078445 RCV000174456 RCV000781613 RCV001276629

NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)

SNV
Germline

Chr6:49440295

Pathogenic

METHYLMALONIC ACIDURIA, mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA249730

rs_121918254

7 SubmittersRCV000001961 RCV000203390 RCV000427444 RCV001276633 RCV002271364

NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)

SNV
Germline

Chr6:49457789

Pathogenic

METHYLMALONIC ACIDURIA, mut(0) TYPE
Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA249731

rs_121918256

9 SubmittersRCV000001963 RCV000186055 RCV000203309 RCV000587363 RCV001271716

NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)

SNV
Germline

Chr6:49459145

Pathogenic

METHYLMALONIC ACIDURIA, mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA249732

rs_121918257

12 SubmittersRCV000001964 RCV000203340 RCV001376644 RCV001192656 RCV001271723 RCV004018538

NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)

SNV
Germline

Chr2:71124445

Pathogenic

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Condition: not provided
Inborn genetic diseases
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA339966

rs_111033538

11 SubmittersRCV000002434 RCV000598126 RCV002512676 RCV003486541

NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)

SNV
Germline

Chr12:109561068

Pathogenic/Likely pathogenic

Methylmalonic aciduria, cblB type
Condition: not provided
Methylmalonic acidemia
Inborn genetic diseases
MMAB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA312714

rs_28941784

18 SubmittersRCV000003241 RCV000186017 RCV000296390 RCV002512694 RCV003398428

NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr4:145639422

Pathogenic

Methylmalonic aciduria, cblA type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA340040

rs_104893846

7 SubmittersRCV000003308 RCV003155012

NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)

SNV
Germline

Chr4:145639572

Pathogenic/Likely pathogenic

Methylmalonic aciduria, cblA type
Condition: not provided
Methylmalonic acidemia
See cases
MMAA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA312705

rs_104893851

24 SubmittersRCV000003310 RCV000186012 RCV000587855 RCV003128386 RCV003421899

NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)

SNV
Germline

Chr16:89154148

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia
Condition: not provided
ACSF3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129703

rs_141090143

16 SubmittersRCV000024130 RCV000185751 RCV003407360

NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)

SNV
Germline

Chr16:89146003

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA129705

rs_387907118

5 SubmittersRCV000024131

NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)

SNV
Germline

Chr16:89114436

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia
Condition: not provided
Methylmalonic acidemia
ACSF3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129707

rs_150487794

12 SubmittersRCV000024132 RCV000185748 RCV001274019 RCV003415738

NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)

SNV
Germline

Chr16:89145311

Conflicting classifications of pathogenicity

Combined malonic and methylmalonic acidemia
Methylmalonic acidemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA129709

rs_138680796

8 SubmittersRCV000024133 RCV001274022 RCV001588825

NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)

SNV
Germline

Chr16:89145312

Conflicting classifications of pathogenicity

Combined malonic and methylmalonic acidemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA129711

rs_387907119

6 SubmittersRCV000024134 RCV001531864 RCV003226167

NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)

SNV
Germline

Chr16:89102665

Conflicting classifications of pathogenicity

Combined malonic and methylmalonic acidemia
not specified

Criteria Provided
Conflicting Classifications

CA129715

rs_140986055

4 SubmittersRCV000024136 RCV003114202

NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg)

SNV
Germline

Chr16:89101274

Pathogenic

Combined malonic and methylmalonic acidemia

No Assertion Criteria Provided

CA129717

rs_387907121

1 SubmittersRCV000024137

NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)

SNV
Germline

Chr14:74292623

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblJ
Condition: not provided
Cobalamin C disease

Criteria Provided
Conflicting Classifications

CA130166

rs_201777056

4 SubmittersRCV000030859 RCV000059785 RCV002265570

NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys)

SNV
Germline

Chr14:74289483

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

No Assertion Criteria Provided

rs_2080853826

1 SubmittersRCV000030862

NM_005334.3(HCFC1):c.-970T>C

SNV
Germline

ChrX:153971810

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX

No Assertion Criteria Provided

CA130459

rs_398122908

1 SubmittersRCV000032896

NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)

SNV
Germline

ChrX:153963263

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

No Assertion Criteria Provided

CA130460

rs_318240758

2 SubmittersRCV000032897 RCV000059786

NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)

SNV
Germline

ChrX:153964283

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Disorders of Intracellular Cobalamin Metabolism

Criteria Provided
Multiple Submitters
No Conflicts

CA144900

rs_397515485

5 SubmittersRCV000057506 RCV002513743

NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)

SNV
Germline

ChrX:153964702

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Intellectual disability
Condition: not provided
Disorders of Intracellular Cobalamin Metabolism
Cobalamin C disease

Criteria Provided
Conflicting Classifications

CA144902

rs_397515486

6 SubmittersRCV000057507 RCV000224133 RCV000224484 RCV002513744 RCV001199845

NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)

SNV
Germline

ChrX:153964703

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Disorders of Intracellular Cobalamin Metabolism

No Assertion Criteria Provided

CA144904

rs_397515487

2 SubmittersRCV000057508 RCV002513745

NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)

SNV
Germline

Chr6:49459376

Pathogenic

Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
See cases
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA249743

rs_398123278

10 SubmittersRCV000078448 RCV000175566 RCV000781612 RCV002251962 RCV001826711

NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)

SNV
Germline

ChrX:153960046

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA222863

rs_398124206

2 SubmittersRCV000081289 RCV003638617

NM_000255.4(MMUT):c.323G>A (p.Arg108His)

SNV
Germline

Chr6:49459144

Pathogenic

Condition: not provided
METHYLMALONIC ACIDURIA, mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA235522

rs_483352778

9 SubmittersRCV000162231 RCV000502227 RCV000664555 RCV000781608 RCV001271722

NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)

SNV
Germline

ChrX:153955109

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Methylmalonic acidemia with homocystinuria, type cblX
HCFC1-related disorder

Criteria Provided
Conflicting Classifications

CA231158

rs_201404751

8 SubmittersRCV000117215 RCV000599889 RCV001520721 RCV003952568

NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)

SNV
Germline

Chr12:11884541

Pathogenic/Likely pathogenic

Thrombocytopenia
Hematologic neoplasm
Thrombocytopenia 5
Condition: not provided
Inborn genetic diseases
ETV6-related disorder
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA175028

rs_724159946

7 SubmittersRCV000149803 RCV000157610 RCV003162607 RCV003372620 RCV003415987 RCV004526621

NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)

SNV
Germline

Chr6:49451591

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA234287

rs_727504020

9 SubmittersRCV000179277 RCV000790701 RCV001193927 RCV001271707

NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)

SNV
Germline

ChrX:153949579

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA234106

rs_199953428

2 SubmittersRCV000153346 RCV002056033

NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)

SNV
Germline

Chr6:49459187

Pathogenic/Likely pathogenic

Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA234291

rs_727504022

6 SubmittersRCV000175567 RCV001535925 RCV001831956 RCV002307410

NM_032601.4(MCEE):c.102C>G (p.Pro34=)

SNV
Germline

Chr2:71124482

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA201716

rs_146573280

6 SubmittersRCV000175960 RCV000642152 RCV001726020

NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)

SNV
Germline

Chr2:71110074

Conflicting classifications of pathogenicity

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA312696

rs_138436961

7 SubmittersRCV000203412 RCV000593824 RCV002282020

NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)

SNV
Germline

Chr2:71124406

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312700

rs_147401037

6 SubmittersRCV000186009 RCV000203363 RCV000756325

NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)

SNV
Germline

Chr4:145639526

Pathogenic

Condition: not provided
Methylmalonic aciduria, cblA type
Methylmalonic acidemia
MMAA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA312703

rs_796051992

8 SubmittersRCV000186011 RCV000671866 RCV001420837 RCV003401020

NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)

SNV
Germline

Chr4:145655165

Pathogenic

Condition: not provided
Methylmalonic aciduria, cblA type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA312708

rs_571038432

5 SubmittersRCV000186014 RCV000203343 RCV001193917

NM_000255.4(MMUT):c.1560+1G>T

SNV
Germline

Chr6:49447669

Pathogenic

Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_200019422

3 SubmittersRCV001193326 RCV001390791 RCV000669261

NM_000255.4(MMUT):c.1106G>A (p.Arg369His)

SNV
Germline

Chr6:49451692

Pathogenic

Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA312764

rs_564069299

8 SubmittersRCV000186046 RCV000203318 RCV001271709 RCV001192655

NM_000255.4(MMUT):c.1084-10A>G

SNV
Germline

Chr6:49451724

Pathogenic/Likely pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA312763

rs_777031588

8 SubmittersRCV000642162 RCV000732448 RCV001833111 RCV002509286

NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)

SNV
Germline

Chr6:49453686

Pathogenic/Likely pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312762

rs_796052002

5 SubmittersRCV000666436 RCV000589433 RCV001376629 RCV001835712

NM_000255.4(MMUT):c.753+2T>A

SNV
Germline

Chr6:49457689

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_796052006

6 SubmittersRCV000672182 RCV000781610 RCV001852417

NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr6:49457762

Pathogenic

Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312778

rs_200596762

8 SubmittersRCV000186056 RCV000666877 RCV001192657 RCV001271714

NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)

SNV
Germline

Chr6:49457872

Pathogenic

Condition: not provided
Methylmalonic acidemia
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA312777

rs_760782399

11 SubmittersRCV000186054 RCV000585983 RCV000203406 RCV001271719 RCV001814093

NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr12:109557081

Pathogenic

Methylmalonic aciduria, cblB type
Condition: not provided
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA312718

rs_369296618

8 SubmittersRCV000190603 RCV000420410 RCV000780427

NM_052845.4(MMAB):c.569G>A (p.Arg190His)

SNV
Germline

Chr12:109561055

Pathogenic/Likely pathogenic

Condition: not provided
Methylmalonic aciduria, cblB type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA312716

rs_756414548

7 SubmittersRCV000186018 RCV000203392 RCV001420745

NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:89100682

Conflicting classifications of pathogenicity

Condition: not provided
Combined malonic and methylmalonic acidemia
ACSF3-related disorder

Criteria Provided
Conflicting Classifications

CA312305

rs_370382601

4 SubmittersRCV000185752 RCV002282016 RCV003416112

NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)

SNV
Germline

Chr16:89101029

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_757905943

2 SubmittersRCV001380117

NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)

SNV
Germline

Chr16:89101270

Conflicting classifications of pathogenicity

Condition: not provided
Combined malonic and methylmalonic acidemia

Criteria Provided
Conflicting Classifications

CA312312

rs_761573352

2 SubmittersRCV000185756 RCV002516960

NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)

SNV
Germline

Chr16:89145306

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Combined malonic and methylmalonic acidemia
ACSF3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA312301

rs_144681140

8 SubmittersRCV000185749 RCV000658756 RCV000660548 RCV003977489 RCV004020249

NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)

SNV
Germline

ChrX:153955043

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX
not specified

Criteria Provided
Conflicting Classifications

CA204892

rs_782727601

4 SubmittersRCV000190805 RCV001814098 RCV001818463

NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)

SNV
Germline

ChrX:153954709

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA206502

rs_782484757

2 SubmittersRCV000193189 RCV002054266

NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)

SNV
Germline

ChrX:153954907

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided
HCFC1-related disorder

Criteria Provided
Conflicting Classifications

CA209474

rs_376049260

7 SubmittersRCV000194960 RCV000638561 RCV001726038 RCV003947606

NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)

SNV
Germline

ChrX:153955273

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA208007

rs_782501125

2 SubmittersRCV000194081 RCV003522945

NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)

SNV
Germline

ChrX:153956356

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA209573

rs_374223163

2 SubmittersRCV000195023 RCV001400453

NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)

SNV
Germline

ChrX:153956951

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA207556

rs_371411952

2 SubmittersRCV000193817 RCV003522944

NM_005334.3(HCFC1):c.1084+8C>T

SNV
Germline

ChrX:153960227

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA209242

rs_367698803

2 SubmittersRCV000194817 RCV003638641

NM_005334.3(HCFC1):c.984C>T (p.Val328=)

SNV
Germline

ChrX:153960335

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA206536

rs_782409511

2 SubmittersRCV000193208 RCV003638642

NM_052845.4(MMAB):c.584G>A (p.Arg195His)

SNV
Germline

Chr12:109561040

Conflicting classifications of pathogenicity

Methylmalonic aciduria, cblB type
Methylmalonic acidemia

Criteria Provided
Conflicting Classifications

CA278556

rs_756195708

5 SubmittersRCV000202574 RCV000780426

NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)

SNV
Germline

Chr4:145639203

Pathogenic

Methylmalonic aciduria, cblA type
Condition: not provided
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA347868

rs_765799472

7 SubmittersRCV000203329 RCV000488986 RCV000590153

NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)

SNV
Germline

Chr4:145646073

Pathogenic/Likely pathogenic

Methylmalonic aciduria, cblA type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA347870

rs_140356252

5 SubmittersRCV000203334 RCV001804942

NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)

SNV
Germline

Chr4:145646076

Likely pathogenic

Methylmalonic aciduria, cblA type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA347896

rs_864309730

3 SubmittersRCV000203378 RCV002509299

NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)

SNV
Germline

Chr6:49431802

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA347913

rs_779990936

11 SubmittersRCV000203410 RCV000725155 RCV001276628 RCV001193329 RCV001814114

NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)

SNV
Germline

Chr6:49435500

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347907

rs_777758903

9 SubmittersRCV000203399 RCV000589534 RCV001376607 RCV001833170

NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)

SNV
Germline

Chr6:49451518

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347873

rs_753288303

7 SubmittersRCV000203344 RCV000723412 RCV000588430 RCV001271706

NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)

SNV
Germline

Chr6:49451693

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347895

rs_772552898

8 SubmittersRCV000203377 RCV000414057 RCV001193325 RCV001271710

NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr6:49457837

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA347872

rs_778702777

7 SubmittersRCV000203339 RCV001091103 RCV001833168 RCV003317150

NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)

SNV
Germline

Chr6:49459448

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347859

rs_761773115

3 SubmittersRCV000203322 RCV001293610 RCV003556256

NM_052845.4(MMAB):c.291-1G>A

SNV
Germline

Chr12:109565177

Pathogenic

Methylmalonic aciduria, cblB type
Condition: not provided
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA347875

rs_199971687

9 SubmittersRCV000203348 RCV000727663 RCV001194232

NM_052845.4(MMAB):c.197-1G>T

SNV
Germline

Chr12:109568864

Pathogenic

Methylmalonic aciduria, cblB type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA347865

rs_763935916

11 SubmittersRCV000203326 RCV000590462

NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)

SNV
Germline

ChrX:153952053

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Single Submitter

CA353443

rs_869312686

1 SubmittersRCV000209921

NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)

SNV
Germline

ChrX:153959817

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10557513

rs_782010359

4 SubmittersRCV000224972 RCV000493756 RCV002516244

NM_005050.4(ABCD4):c.542+1G>T

SNV
Germline

Chr14:74296332

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7267187

rs_769364566

3 SubmittersRCV000030861 RCV000373583

NM_032601.4(MCEE):c.312T>G (p.Arg104=)

SNV
Germline

Chr2:71124272

Conflicting classifications of pathogenicity

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA1702605

rs_142838031

3 SubmittersRCV000293738 RCV000608296

NM_172250.3(MMAA):c.630A>G (p.Pro210=)

SNV
Germline

Chr4:145646053

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Methylmalonic aciduria, cblA type
Methylmalonic acidemia

Criteria Provided
Conflicting Classifications

CA3095223

rs_374347679

6 SubmittersRCV000443202 RCV000886941 RCV001084213 RCV001273689

NM_052845.4(MMAB):c.-9G>T

SNV
Germline

Chr12:109573489

Conflicting classifications of pathogenicity

Methylmalonic acidemia
not specified
Methylmalonic aciduria, cblB type

Criteria Provided
Conflicting Classifications

CA6779099

rs_554831769

3 SubmittersRCV000402027 RCV000600720 RCV001833453

NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)

SNV
Germline

Chr14:74300166

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblJ
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7267331

rs_147446660

4 SubmittersRCV000414128 RCV001034174 RCV002523924

NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)

SNV
Germline

ChrX:153953629

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10556985

rs_782407440

3 SubmittersRCV000412955 RCV003522964

NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)

SNV
Germline

Chr14:74290035

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

CA7266821

rs_45568335

6 SubmittersRCV000443723 RCV000763942

NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)

SNV
Germline

Chr16:89145370

Conflicting classifications of pathogenicity

Condition: not provided
Combined malonic and methylmalonic acidemia
not specified

Criteria Provided
Conflicting Classifications

CA8238230

rs_147538370

8 SubmittersRCV000444454 RCV001245382 RCV002282137

NM_005050.4(ABCD4):c.1753-18G>A

SNV
Germline

Chr14:74286547

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

CA7266581

rs_772567988

2 SubmittersRCV000426981 RCV002525362

NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)

SNV
Germline

Chr14:74293217

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ
ABCD4-related disorder

Criteria Provided
Conflicting Classifications

CA7267070

rs_141868117

4 SubmittersRCV000423379 RCV001083323 RCV003959901

NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)

SNV
Germline

Chr16:89146044

Pathogenic/Likely pathogenic

Condition: not provided
Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8238301

rs_201954387

6 SubmittersRCV000426583 RCV001062791

NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)

SNV
Germline

ChrX:153952117

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10556872

rs_782467999

2 SubmittersRCV000443814 RCV003522979

NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)

SNV
Germline

Chr16:67842794

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblX
Disorders of Intracellular Cobalamin Metabolism

Criteria Provided
Single Submitter

CA396396088

rs_188675529

2 SubmittersRCV000498990 RCV002522728

NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)

SNV
Germline

Chr14:74288757

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7266765

rs_139901585

7 SubmittersRCV000755203 RCV000820142 RCV002526975

NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)

SNV
Germline

ChrX:153952837

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10556937

rs_781788935

3 SubmittersRCV000482310 RCV000766506 RCV002526976

NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)

SNV
Germline

Chr6:49440273

Pathogenic/Likely pathogenic

Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA3846717

rs_143023066

5 SubmittersRCV000489642 RCV000666698 RCV001844176

NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr6:49457990

Pathogenic

Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3847107

rs_780068818

6 SubmittersRCV000489927 RCV000667884 RCV001192658 RCV001271720

NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)

SNV
Germline

Chr16:89114389

Pathogenic/Likely pathogenic

Condition: not provided
Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397140398

rs_1131691498

3 SubmittersRCV000494593 RCV003476188

NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)

SNV
Germline

ChrX:153954553

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10557126

rs_372301724

2 SubmittersRCV000503750 RCV001399716

NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)

SNV
Germline

ChrX:153960032

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

CA10557538

rs_782047045

2 SubmittersRCV000499852 RCV003638674

NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu)

SNV
Germline

Chr16:89101226

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia
Combined malonic and methylmalonic acidemia

Criteria Provided
Conflicting Classifications

CA8237688

rs_145470870

3 SubmittersRCV000514315 RCV001274016 RCV002524998

NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)

SNV
Germline

ChrX:153954507

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10557117

rs_781949446

3 SubmittersRCV000522865 RCV001314423 RCV002527603

NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)

SNV
Germline

Chr4:145646009

Pathogenic

Methylmalonic aciduria, cblA type
Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA107725374

rs_1029096863

9 SubmittersRCV000545383 RCV001193915 RCV001584283

NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)

SNV
Germline

Chr4:145651070

Pathogenic

Methylmalonic acidemia
Methylmalonic aciduria, cblA type

Criteria Provided
Multiple Submitters
No Conflicts

CA3095257

rs_757548934

3 SubmittersRCV000586897 RCV001240486

NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)

SNV
Germline

Chr6:49453643

Pathogenic

Methylmalonic acidemia
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3846982

rs_770466993

3 SubmittersRCV000587657 RCV000665393 RCV001389293

NM_000255.4(MMUT):c.1083+2T>A

SNV
Germline

Chr6:49453583

Pathogenic

Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3846974

rs_746085723

2 SubmittersRCV000586630 RCV003558446

NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)

SNV
Germline

Chr6:49448861

Pathogenic

Methylmalonic acidemia
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3846893

rs_774159791

6 SubmittersRCV000587544 RCV000664980 RCV001271704 RCV001381507

NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)

SNV
Germline

Chr16:89114442

Conflicting classifications of pathogenicity

Combined malonic and methylmalonic acidemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8237955

rs_145285434

8 SubmittersRCV000649671 RCV001093042 RCV002307575

NM_000255.4(MMUT):c.1677-1G>A

SNV
Germline

Chr6:49441972

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754369323

5 SubmittersRCV000664627 RCV001193330 RCV001276634 RCV001383400

NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)

SNV
Germline

Chr6:49457774

Pathogenic/Likely pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554160638

6 SubmittersRCV000668034 RCV000760390 RCV001835087 RCV001805790

NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)

SNV
Germline

Chr6:49440316

Pathogenic/Likely pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_765284825

6 SubmittersRCV000666577 RCV001388780 RCV001829835 RCV001805788

NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)

SNV
Germline

Chr6:49441907

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1238694184

6 SubmittersRCV000670351 RCV001193331 RCV001200471 RCV001829864

NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)

SNV
Germline

Chr6:49447749

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_764173488

3 SubmittersRCV000666288 RCV001193327 RCV001380235

NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)

SNV
Germline

Chr6:49448840

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_887126161

4 SubmittersRCV000670581 RCV001193332 RCV001376565 RCV001271703

NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)

SNV
Germline

Chr6:49456141

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_761477436

8 SubmittersRCV000669279 RCV000781609 RCV001376630 RCV001829855

NM_000255.4(MMUT):c.1677-1G>C

SNV
Germline

Chr6:49441972

Pathogenic/Likely pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754369323

5 SubmittersRCV000673042 RCV001269118 RCV002531330

NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)

SNV
Germline

Chr6:49447699

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_761525156

8 SubmittersRCV000672079 RCV000781614 RCV001198994 RCV001830454

NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)

SNV
Germline

Chr6:49451511

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1346775255

4 SubmittersRCV000669883 RCV001376628 RCV001830442 RCV002282308

NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)

SNV
Germline

Chr12:109561067

Conflicting classifications of pathogenicity

Methylmalonic aciduria, cblB type
Methylmalonic acidemia

Criteria Provided
Conflicting Classifications

rs_773059864

5 SubmittersRCV000667435 RCV004017714

NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)

SNV
Germline

Chr12:109561485

Pathogenic/Likely pathogenic

Methylmalonic aciduria, cblB type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_557884699

4 SubmittersRCV000666211 RCV001194231

NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)

SNV
Germline

Chr6:49435554

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia
MMUT-related disorder

Criteria Provided
Conflicting Classifications

rs_147715336

7 SubmittersRCV000696572 RCV001376641 RCV003230575 RCV003403616

NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)

SNV
Germline

Chr14:74287858

Pathogenic/Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ
Cobalamin C disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_767795583

3 SubmittersRCV000707417 RCV002265867

NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)

SNV
Germline

Chr16:89145305

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_748382994

3 SubmittersRCV000690332

NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)

SNV
Germline

ChrX:153954246

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_781783048

2 SubmittersRCV000706024

NM_001243279.3(ACSF3):c.1502-2A>G

SNV
Germline

Chr16:89145936

Pathogenic/Likely pathogenic

Condition: not provided
Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1188774860

3 SubmittersRCV000735190 RCV001048461

NM_000255.4(MMUT):c.753+1G>A

SNV
Germline

Chr6:49457690

Pathogenic/Likely pathogenic

Methylmalonic acidemia
Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1028877309

3 SubmittersRCV000781611 RCV001386687 RCV002493428

NM_000255.4(MMUT):c.281G>T (p.Gly94Val)

SNV
Germline

Chr6:49459186

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_535411418

6 SubmittersRCV000814597 RCV001091104 RCV001264490 RCV001825635

NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)

SNV
Germline

Chr16:89101132

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_752338222

2 SubmittersRCV000796173

NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)

SNV
Germline

Chr16:89102626

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_145583876

3 SubmittersRCV000795961

NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)

SNV
Germline

Chr16:89112097

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_570233664

1 SubmittersRCV000801009

NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)

SNV
Germline

Chr16:89133196

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_766764090

2 SubmittersRCV000792573

NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)

SNV
Germline

ChrX:153954836

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782473277

2 SubmittersRCV000821405 RCV002537503

NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)

SNV
Germline

Chr16:89100967

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_1975233179

1 SubmittersRCV001044905

NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)

SNV
Germline

Chr16:89101105

Pathogenic

Combined malonic and methylmalonic acidemia
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_142575695

3 SubmittersRCV001041671 RCV001274015

NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)

SNV
Germline

Chr16:89133206

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1243213118

3 SubmittersRCV001047795

NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)

SNV
Germline

Chr16:89145971

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450563045

2 SubmittersRCV001046509

NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)

SNV
Germline

Chr16:89146009

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_767958353

1 SubmittersRCV001057166

NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)

SNV
Germline

Chr16:89146043

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_779820462

2 SubmittersRCV001039227

NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)

SNV
Germline

ChrX:153954904

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373327413

3 SubmittersRCV001043826 RCV003438654

NM_005050.4(ABCD4):c.426-4C>G

SNV
Germline

Chr14:74296453

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

rs_765378243

2 SubmittersRCV001092315 RCV003769024

NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)

SNV
Germline

ChrX:153954803

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_1273500868

2 SubmittersRCV001093007 RCV002557966

NM_032601.4(MCEE):c.164T>C (p.Val55Ala)

SNV
Germline

Chr2:71124420

Conflicting classifications of pathogenicity

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Criteria Provided
Conflicting Classifications

rs_374147386

2 SubmittersRCV001140354

NM_032601.4(MCEE):c.66C>T (p.Pro22=)

SNV
Germline

Chr2:71124518

Conflicting classifications of pathogenicity

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Criteria Provided
Conflicting Classifications

rs_151148238

2 SubmittersRCV001142212

NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)

SNV
Germline

Chr14:74290302

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblJ
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200761248

4 SubmittersRCV001200594 RCV002561077 RCV003363148

NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)

SNV
Germline

Chr16:89102627

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1432097143

2 SubmittersRCV001204919

NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)

SNV
Germline

Chr16:89102718

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_746877433

4 SubmittersRCV001213816

NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)

SNV
Germline

Chr16:89101089

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1313088429

2 SubmittersRCV001229626

NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)

SNV
Germline

Chr16:89112096

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_759338401

3 SubmittersRCV001232362

NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)

SNV
Germline

ChrX:153952723

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1252960661

2 SubmittersRCV001231378 RCV003246783

NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)

SNV
Germline

ChrX:153951444

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1342469676

2 SubmittersRCV001248497 RCV001814290

NM_005050.4(ABCD4):c.719+2T>G

SNV
Germline

Chr14:74295146

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

rs_2082518811

1 SubmittersRCV001254054

NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)

SNV
Germline

Chr14:74295966

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Conflicting Classifications

rs_1410990711

2 SubmittersRCV001254055

NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)

SNV
Germline

Chr6:49458022

Likely pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Condition: not provided
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_565348836

3 SubmittersRCV001257407 RCV003558770 RCV004526821

NM_005334.3(HCFC1):c.748G>A (p.Val250Met)

SNV
Germline

ChrX:153962271

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_782385961

2 SubmittersRCV001266994 RCV002537694

NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)

SNV
Germline

ChrX:153962297

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782354655

3 SubmittersRCV001265667 RCV001880094 RCV002261329

NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)

SNV
Germline

Chr16:89100724

Conflicting classifications of pathogenicity

Methylmalonic acidemia
Combined malonic and methylmalonic acidemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375374971

4 SubmittersRCV001278422 RCV002499471 RCV002541683

NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)

SNV
Germline

Chr16:89100875

Conflicting classifications of pathogenicity

Methylmalonic acidemia
Combined malonic and methylmalonic acidemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_745633046

3 SubmittersRCV001278432 RCV002537793 RCV004035471

NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)

SNV
Germline

Chr16:89133230

Conflicting classifications of pathogenicity

Methylmalonic acidemia
Combined malonic and methylmalonic acidemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142092069

4 SubmittersRCV001280410 RCV003479307 RCV004035510

NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)

SNV
Germline

Chr16:89154149

Conflicting classifications of pathogenicity

Methylmalonic acidemia
Combined malonic and methylmalonic acidemia

Criteria Provided
Conflicting Classifications

rs_140328142

3 SubmittersRCV001280422 RCV002499489

NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)

SNV
Germline

Chr6:49451522

Pathogenic/Likely pathogenic

Condition: not provided
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_769922244

3 SubmittersRCV001812948 RCV003317472

NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)

SNV
Germline

Chr16:89145301

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1912700120

2 SubmittersRCV001330531

NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)

SNV
Germline

Chr16:89145972

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1025201214

3 SubmittersRCV001330534

NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)

SNV
Germline

ChrX:153952890

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_371874117

2 SubmittersRCV001334385

NM_001243279.3(ACSF3):c.978-1G>A

SNV
Germline

Chr16:89114338

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_756599931

2 SubmittersRCV001378316

NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)

SNV
Germline

Chr16:89114436

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_150487794

1 SubmittersRCV001378855

NM_001243279.3(ACSF3):c.1126+1G>A

SNV
Germline

Chr16:89114488

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_916461556

3 SubmittersRCV001377030

NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)

SNV
Germline

Chr4:145639573

Pathogenic/Likely pathogenic

Methylmalonic aciduria, cblA type
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_200577967

4 SubmittersRCV001386117 RCV003388009

NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)

SNV
Germline

Chr6:49451503

Pathogenic/Likely pathogenic

Condition: not provided
Methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1297307718

2 SubmittersRCV001389292 RCV003331146

NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr16:89100919

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia
ACSF3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_138156311

3 SubmittersRCV001384669 RCV003399204

NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)

SNV
Germline

Chr16:89101257

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_771558691

2 SubmittersRCV001384302

NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)

SNV
Germline

Chr16:89102757

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151416957

2 SubmittersRCV001383440

NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)

SNV
Germline

Chr16:89112160

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151444797

4 SubmittersRCV001380093

NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)

SNV
Germline

Chr16:89133207

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_1909702747

1 SubmittersRCV001380278

NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)

SNV
Germline

Chr16:89154147

Conflicting classifications of pathogenicity

Combined malonic and methylmalonic acidemia

Criteria Provided
Conflicting Classifications

rs_747338200

2 SubmittersRCV001460962

NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)

SNV
Germline

Chr16:89146016

Pathogenic/Likely pathogenic

Condition: not provided
Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1457774840

5 SubmittersRCV001547341 RCV001826392

NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)

SNV
Germline

Chr16:89101072

Conflicting classifications of pathogenicity

Combined malonic and methylmalonic acidemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144411003

2 SubmittersRCV001559236 RCV002568387

NM_001243279.3(ACSF3):c.666+1G>A

SNV
Germline

Chr16:89101348

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1336382616

2 SubmittersRCV001783134

NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)

SNV
Germline

Chr16:89154149

Conflicting classifications of pathogenicity

Combined malonic and methylmalonic acidemia
not specified

Criteria Provided
Conflicting Classifications

rs_140328142

2 SubmittersRCV001785880 RCV002282576

NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)

SNV
Germline

ChrX:153950358

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_2065298662

2 SubmittersRCV001817492 RCV002077287

NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)

SNV
Germline

ChrX:153954347

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

rs_111385795

2 SubmittersRCV001844619 RCV003638823

NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)

SNV
Germline

ChrX:153954795

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1439756712

3 SubmittersRCV002004490 RCV003170133 RCV003438907

NM_001243279.3(ACSF3):c.977+1G>C

SNV
Germline

Chr16:89112247

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_141056046

2 SubmittersRCV002039124

NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter)

SNV
Germline

Chr16:89154119

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_139520739

1 SubmittersRCV001902891

NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr16:89101264

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1366314967

2 SubmittersRCV001941649

NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)

SNV
Germline

Chr16:89102754

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_749538361

2 SubmittersRCV002007207

NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)

SNV
Germline

Chr16:89101089

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1313088429

2 SubmittersRCV001932674

NM_001243279.3(ACSF3):c.822+1G>A

SNV
Germline

Chr16:89102760

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151416991

2 SubmittersRCV002015363

NM_000255.4(MMUT):c.1847G>A (p.Arg616His)

SNV
Germline

Chr6:49440315

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia

Criteria Provided
Conflicting Classifications

rs_1369724342

2 SubmittersRCV002019419 RCV003402032

NM_001243279.3(ACSF3):c.1613+1G>A

SNV
Germline

Chr16:89146050

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_770400253

2 SubmittersRCV001898971

NM_001243279.3(ACSF3):c.1613+2T>C

SNV
Germline

Chr16:89146051

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_2151564932

1 SubmittersRCV001958998

NM_001243279.3(ACSF3):c.822+2T>C

SNV
Germline

Chr16:89102761

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1975502704

2 SubmittersRCV002043777

NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)

SNV
Germline

Chr16:89100992

Conflicting classifications of pathogenicity

not specified
Combined malonic and methylmalonic acidemia

Criteria Provided
Conflicting Classifications

rs_1378197369

2 SubmittersRCV002223066 RCV003464406

NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter)

SNV
Germline

Chr16:89101084

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

rs_752534981

1 SubmittersRCV002266181

NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)

SNV
Germline

Chr6:49456129

Pathogenic/Likely pathogenic

Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1179778233

2 SubmittersRCV002266258 RCV003096020

NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)

SNV
Germline

Chr6:49453590

Likely pathogenic

Methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV002308614

NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)

SNV
Germline

Chr16:89133199

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002308699

NM_001243279.3(ACSF3):c.978-2A>G

SNV
Germline

Chr16:89114337

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003086280

NM_001243279.3(ACSF3):c.977+1G>A

SNV
Germline

Chr16:89112247

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003090313

NM_005334.3(HCFC1):c.193+16G>T

SNV
Germline

ChrX:153970632

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002510306 RCV003775561

NM_001243279.3(ACSF3):c.1501+1G>T

SNV
Germline

Chr16:89145402

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002580689

NM_001243279.3(ACSF3):c.667-2A>G

SNV
Germline

Chr16:89102602

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002609209

NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr16:89112209

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002658411

NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)

SNV
Germline

Chr16:89120846

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002800372

NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)

SNV
Germline

Chr16:89114390

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV002774978

NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)

SNV
Germline

Chr16:89154108

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV002791548

NM_001243279.3(ACSF3):c.1240-1G>C

SNV
Germline

Chr16:89133135

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV002806919

NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)

SNV
Germline

Chr16:89120893

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV002876401

NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)

SNV
Germline

ChrX:153955427

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002922791

NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)

SNV
Germline

Chr16:89154121

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002966620

NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)

SNV
Germline

ChrX:153950521

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003002280 RCV003002279

NM_001243279.3(ACSF3):c.667-1G>T

SNV
Germline

Chr16:89102603

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003017872

NM_001243279.3(ACSF3):c.1366+1G>A

SNV
Germline

Chr16:89133263

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003042309

NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr16:89101129

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003017438

NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr16:89112197

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003049618

NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)

SNV
Germline

Chr16:89120857

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003027386

NM_001243279.3(ACSF3):c.666+1G>T

SNV
Germline

Chr16:89101348

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003024886

NM_001243279.3(ACSF3):c.1614-2A>G

SNV
Germline

Chr16:89154088

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003143976

NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)

SNV
Germline

ChrX:153955139

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131101

NM_032601.4(MCEE):c.379-644A>G

SNV
Germline

Chr2:71110766

Likely pathogenic

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Criteria Provided
Single Submitter

2 SubmittersRCV003152404

NM_001243279.3(ACSF3):c.1239+2T>G

SNV
Germline

Chr16:89120915

Pathogenic

Combined malonic and methylmalonic acidemia

No Assertion Criteria Provided

1 SubmittersRCV003315470

NM_000255.4(MMUT):c.2033A>G (p.His678Arg)

SNV
Germline

Chr6:49435547

Likely pathogenic

Methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003317720

NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)

SNV
Germline

ChrX:153954554

Conflicting classifications of pathogenicity

not specified
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003317878 RCV003638937

NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)

SNV
Germline

ChrX:153954641

Conflicting classifications of pathogenicity

Inborn genetic diseases
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003349152 RCV003523162

NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)

SNV
Germline

ChrX:153951988

Conflicting classifications of pathogenicity

HCFC1-related disorder
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003419150 RCV003638953

NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)

SNV
Germline

ChrX:153954910

Conflicting classifications of pathogenicity

HCFC1-related disorder
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003418775 RCV003638951

NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)

SNV
Germline

ChrX:153952817

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003432646 RCV003638959

NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)

SNV
Germline

ChrX:153954423

Conflicting classifications of pathogenicity

Condition: not provided
Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003440015 RCV003778462

NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)

SNV
Unknown

Chr16:89101315

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003460333

NM_001243279.3(ACSF3):c.1240-1G>A

SNV
Unknown

Chr16:89133135

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003460358

NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)

SNV
Unknown

Chr16:89100800

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003460375

NM_001243279.3(ACSF3):c.1501+1G>A

SNV
Germline

Chr16:89145402

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474488

NM_001243279.3(ACSF3):c.1366+1G>T

SNV
Unknown

Chr16:89133263

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003474491

NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)

SNV
Unknown

Chr16:89133220

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003474528

NM_001243279.3(ACSF3):c.1239+1G>A

SNV
Unknown

Chr16:89120914

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003474540

NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)

SNV
Unknown

Chr16:89100897

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003475613

NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)

SNV
Unknown

Chr16:89101165

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003475625

NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)

SNV
Germline

Chr16:89112178

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475629

NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)

SNV
Unknown

Chr16:89120877

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003475641

NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)

SNV
Germline

Chr16:89101256

Pathogenic/Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475649

NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)

SNV
Unknown

Chr16:89112098

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003460385

NM_001243279.3(ACSF3):c.977+1G>T

SNV
Germline

Chr16:89112247

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466676

NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)

SNV
Germline

Chr6:49453595

Pathogenic/Likely pathogenic

Methylmalonic acidemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003479815 RCV003553994

NM_005334.3(HCFC1):c.939A>G (p.Thr313=)

SNV
Germline

ChrX:153960380

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003486110

NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)

SNV
Germline

Chr14:74287840

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003531448

NM_005050.4(ABCD4):c.1457-1G>C

SNV
Germline

Chr14:74288766

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003534209

NM_001243279.3(ACSF3):c.1127-2A>T

SNV
Germline

Chr16:89120799

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003527941

NM_032601.4(MCEE):c.40+1G>T

SNV
Germline

Chr2:71130179

Likely pathogenic

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499455

NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)

SNV
Germline

Chr16:89100865

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003643745

NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)

SNV
Germline

Chr14:74289501

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003648439

NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)

SNV
Germline

Chr16:89145300

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003644208

NM_001243279.3(ACSF3):c.1502-1G>C

SNV
Germline

Chr16:89145937

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003644329

NM_001243279.3(ACSF3):c.823-1G>A

SNV
Germline

Chr16:89112091

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003642471

NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)

SNV
Germline

ChrX:153958616

Conflicting classifications of pathogenicity

Methylmalonic acidemia with homocystinuria, type cblX
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003639256 RCV004374311

NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)

SNV
Germline

Chr16:89112173

Pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV003872517

NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr14:74296421

Pathogenic

Methylmalonic acidemia with homocystinuria, type cblJ

Criteria Provided
Single Submitter

1 SubmittersRCV003873123

NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)

SNV
Germline

ChrX:153950542

Likely pathogenic

Methylmalonic acidemia with homocystinuria, type cblX

No Assertion Criteria Provided

1 SubmittersRCV003985697

NM_001243279.3(ACSF3):c.1632C>G (p.Tyr544Ter)

SNV
Unknown

Chr16:89154108

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV004575451

NM_001243279.3(ACSF3):c.1367-2A>C

SNV
Unknown

Chr16:89145265

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV004575453

NM_001243279.3(ACSF3):c.696G>A (p.Trp232Ter)

SNV
Unknown

Chr16:89102633

Likely pathogenic

Combined malonic and methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV004575475

NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)

SNV
Germline

Chr4:145651100

Likely pathogenic

Methylmalonic acidemia

Criteria Provided
Single Submitter

1 SubmittersRCV004579650