ClinVar for MedGen (Select 120654) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25733841.	NM_000255.4(MMUT):c.2033A>G (p.His678Arg) GRCh37: Chr6:49403260 GRCh38: Chr6:49435547	MMUT	H678R	Methylmalonic acidemia	Likely pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 17233382.	NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter) GRCh37: Chr6:49421303 GRCh38: Chr6:49453590	MMUT	E360*	Methylmalonic acidemia	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 17051963.	NM_000255.4(MMUT):c.544dup (p.Met182fs) GRCh37: Chr6:49425612-49425613 GRCh38: Chr6:49457899-49457900	MMUT	M182fs	Methylmalonic acidemia	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 16961144.	NM_000255.4(MMUT):c.862T>C (p.Ser288Pro) GRCh37: Chr6:49423842 GRCh38: Chr6:49456129	MMUT	S288P	not provided, Methylmalonic acidemia	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16771185.	NM_000255.4(MMUT):c.2098_2099del (p.Met700fs) GRCh37: Chr6:49403194-49403195 GRCh38: Chr6:49435481-49435482	MMUT	M700fs	Methylmalonic acidemia	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 14973816.	NM_000255.4(MMUT):c.1847G>A (p.Arg616His) GRCh37: Chr6:49408028 GRCh38: Chr6:49440315	MMUT	R616H	Methylmalonic acidemia, not provided	Conflicting interpretations of pathogenicity (Oct 19, 2023)	criteria provided, conflicting interpretations
Select item 11739937.	NM_052845.4(MMAB):c.367del (p.Asp123fs) GRCh37: Chr12:109999639 GRCh38: Chr12:109561834	MMAB	D123fs	Methylmalonic acidemia	Pathogenic (Jan 20, 2023)	criteria provided, single submitter
Select item 10756408.	NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala) GRCh37: Chr6:49419216 GRCh38: Chr6:49451503	MMUT	E432A	Methylmalonic acidemia, not provided	Pathogenic/Likely pathogenic (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10731979.	NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) GRCh37: Chr4:146560725 GRCh38: Chr4:145639573	MMAA	R145Q	Methylmalonic acidemia, Methylmalonic aciduria, cblA type	Pathogenic (Sep 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106959110.	NM_000255.4(MMUT):c.1658del (p.Val553fs) GRCh37: Chr6:49412370 GRCh38: Chr6:49444657	MMUT	V553fs	not provided, Methylmalonic acidemia	Pathogenic (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99387911.	NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) GRCh37: Chr6:49419235 GRCh38: Chr6:49451522	MMUT	G426R	not provided, Methylmalonic acidemia	Pathogenic/Likely pathogenic (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99210912.	NM_001243279.3(ACSF3):c.*10C>T GRCh37: Chr16:89220625 GRCh38: Chr16:89154217	ACSF3		Methylmalonic acidemia	Uncertain significance (May 1, 2020)	no assertion criteria provided
Select item 99210813.	NM_001243279.3(ACSF3):c.*4G>A GRCh37: Chr16:89220619 GRCh38: Chr16:89154211	ACSF3		Methylmalonic acidemia	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99210714.	NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) GRCh37: Chr16:89220587 GRCh38: Chr16:89154179	ACSF3	A303V, A568V	Combined malonic and methylmalonic acidemia, Inborn genetic diseases	Uncertain significance (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99210615.	NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) GRCh37: Chr16:89220557 GRCh38: Chr16:89154149	ACSF3	R293P, R558P	Combined malonic and methylmalonic acidemia	Uncertain significance (Aug 3, 2021)	criteria provided, single submitter
Select item 99210516.	NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) GRCh37: Chr16:89220527 GRCh38: Chr16:89154119	ACSF3	S283L, S548L	Combined malonic and methylmalonic acidemia	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99210417.	NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=) GRCh37: Chr16:89220505 GRCh38: Chr16:89154097	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 99210318.	NM_001243279.3(ACSF3):c.1613+11_1613+12insGGGG GRCh37: Chr16:89212465-89212466 GRCh38: Chr16:89146057-89146058	ACSF3		Methylmalonic acidemia	Uncertain significance (Sep 23, 2020)	no assertion criteria provided
Select item 99210219.	NM_001243279.3(ACSF3):c.1613+8T>A GRCh37: Chr16:89212465 GRCh38: Chr16:89146057	ACSF3		Methylmalonic acidemia	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99210120.	NM_001243279.3(ACSF3):c.1613+7C>G GRCh37: Chr16:89212464 GRCh38: Chr16:89146056	ACSF3		Methylmalonic acidemia	Uncertain significance (Aug 6, 2020)	no assertion criteria provided
Select item 99210021.	NM_001243279.3(ACSF3):c.1613+7_1613+8del GRCh37: Chr16:89212464-89212465 GRCh38: Chr16:89146056-89146057	ACSF3		Methylmalonic acidemia	Uncertain significance (Sep 29, 2020)	no assertion criteria provided
Select item 99209922.	NM_001243279.3(ACSF3):c.1613+3A>C GRCh37: Chr16:89212460 GRCh38: Chr16:89146052	ACSF3		Combined malonic and methylmalonic acidemia	Uncertain significance (Aug 31, 2020)	criteria provided, single submitter
Select item 99209823.	NM_001243279.3(ACSF3):c.1571A>G (p.Glu524Gly) GRCh37: Chr16:89212415 GRCh38: Chr16:89146007	ACSF3	E259G, E524G	Methylmalonic acidemia	Uncertain significance (May 1, 2020)	no assertion criteria provided
Select item 99209724.	NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) GRCh37: Chr16:89211683 GRCh38: Chr16:89145275	ACSF3	V194M, V459M	Combined malonic and methylmalonic acidemia	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 99209625.	NM_001243279.3(ACSF3):c.1366+8C>T GRCh37: Chr16:89199678 GRCh38: Chr16:89133270	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 99209526.	NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) GRCh37: Chr16:89199651 GRCh38: Chr16:89133243	ACSF3		Combined malonic and methylmalonic acidemia, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99209427.	NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) GRCh37: Chr16:89199638 GRCh38: Chr16:89133230	ACSF3	S180N, S445N	Methylmalonic acidemia	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 99209328.	NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=) GRCh37: Chr16:89199555 GRCh38: Chr16:89133147	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 99108929.	NM_001243279.3(ACSF3):c.1238A>T (p.Lys413Met) GRCh37: Chr16:89187320 GRCh38: Chr16:89120912	ACSF3	K148M, K413M	Methylmalonic acidemia	Uncertain significance (May 1, 2020)	no assertion criteria provided
Select item 99108830.	NM_001243279.3(ACSF3):c.1127-9C>T GRCh37: Chr16:89187200 GRCh38: Chr16:89120792	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 99108731.	NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) GRCh37: Chr16:89180883 GRCh38: Chr16:89114475	ACSF3, LOC125177393	V107M, V372M	not provided, Combined malonic and methylmalonic acidemia	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99108632.	NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg) GRCh37: Chr16:89180865 GRCh38: Chr16:89114457	ACSF3, LOC125177393	G101R, G366R	Inborn genetic diseases, Combined malonic and methylmalonic acidemia	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99108533.	NM_001243279.3(ACSF3):c.1056G>C (p.Leu352=) GRCh37: Chr16:89180825 GRCh38: Chr16:89114417	ACSF3, LOC125177393		Methylmalonic acidemia	Uncertain significance (Jul 3, 2020)	no assertion criteria provided
Select item 99108434.	NM_001243279.3(ACSF3):c.1043G>A (p.Gly348Asp) GRCh37: Chr16:89180812 GRCh38: Chr16:89114404	ACSF3, LOC125177393	G348D, G83D	Methylmalonic acidemia	Uncertain significance (Aug 15, 2020)	no assertion criteria provided
Select item 99108335.	NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) GRCh37: Chr16:89180782 GRCh38: Chr16:89114374	ACSF3, LOC125177393	P338L, P73L	Combined malonic and methylmalonic acidemia	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 99108236.	NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) GRCh37: Chr16:89178630 GRCh38: Chr16:89112222	ACSF3	R318H, R53H	Combined malonic and methylmalonic acidemia	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99108137.	NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn) GRCh37: Chr16:89178620 GRCh38: Chr16:89112212	ACSF3	D315N, D50N	Combined malonic and methylmalonic acidemia	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 99108038.	NM_001243279.3(ACSF3):c.877G>A (p.Val293Met) GRCh37: Chr16:89178554 GRCh38: Chr16:89112146	ACSF3	V28M, V293M	Methylmalonic acidemia	Uncertain significance (May 1, 2020)	no assertion criteria provided
Select item 99107939.	NM_001243279.3(ACSF3):c.857G>A (p.Arg286Gln) GRCh37: Chr16:89178534 GRCh38: Chr16:89112126	ACSF3	R21Q, R286Q	Methylmalonic acidemia	Uncertain significance (Oct 19, 2020)	no assertion criteria provided
Select item 99107840.	NM_001243279.3(ACSF3):c.825T>C (p.Val275=) GRCh37: Chr16:89178502 GRCh38: Chr16:89112094	ACSF3		Methylmalonic acidemia	Uncertain significance (May 1, 2020)	no assertion criteria provided
Select item 99107741.	NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) GRCh37: Chr16:89169066 GRCh38: Chr16:89102658	ACSF3	V241M	Combined malonic and methylmalonic acidemia, Inborn genetic diseases, not provided	Uncertain significance (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99107642.	NM_001243279.3(ACSF3):c.701A>T (p.Lys234Ile) GRCh37: Chr16:89169046 GRCh38: Chr16:89102638	ACSF3	K234I	Methylmalonic acidemia	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99107543.	NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) GRCh37: Chr16:89167707 GRCh38: Chr16:89101299	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Nov 24, 2021)	criteria provided, single submitter
Select item 99107444.	NM_001243279.3(ACSF3):c.561C>T (p.Val187=) GRCh37: Chr16:89167650 GRCh38: Chr16:89101242	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 99107345.	NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu) GRCh37: Chr16:89167646 GRCh38: Chr16:89101238	ACSF3	P186L	Combined malonic and methylmalonic acidemia	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 99107246.	NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn) GRCh37: Chr16:89167616 GRCh38: Chr16:89101208	ACSF3	T176N	Combined malonic and methylmalonic acidemia	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99107147.	NM_001243279.3(ACSF3):c.522C>G (p.Ile174Met) GRCh37: Chr16:89167611 GRCh38: Chr16:89101203	ACSF3	I174M	Methylmalonic acidemia	Uncertain significance (Nov 3, 2020)	no assertion criteria provided
Select item 99107048.	NM_001243279.3(ACSF3):c.507G>A (p.Pro169=) GRCh37: Chr16:89167596 GRCh38: Chr16:89101188	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 99106949.	NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) GRCh37: Chr16:89167586 GRCh38: Chr16:89101178	ACSF3	P166L	Combined malonic and methylmalonic acidemia	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 99106850.	NM_001243279.3(ACSF3):c.436G>A (p.Val146Ile) GRCh37: Chr16:89167525 GRCh38: Chr16:89101117	ACSF3	V146I	Methylmalonic acidemia	Uncertain significance (Sep 2, 2020)	no assertion criteria provided
Select item 99042651.	NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) GRCh37: Chr16:89167445 GRCh38: Chr16:89101037	ACSF3	G119D	Combined malonic and methylmalonic acidemia	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 99042552.	NM_001243279.3(ACSF3):c.283G>C (p.Glu95Gln) GRCh37: Chr16:89167372 GRCh38: Chr16:89100964	ACSF3	E95Q	Methylmalonic acidemia	Uncertain significance (Jul 3, 2020)	no assertion criteria provided
Select item 99042453.	NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp) GRCh37: Chr16:89167369 GRCh38: Chr16:89100961	ACSF3	R94W	Combined malonic and methylmalonic acidemia	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 99042354.	NM_001243279.3(ACSF3):c.278T>A (p.Leu93His) GRCh37: Chr16:89167367 GRCh38: Chr16:89100959	ACSF3	L93H	Methylmalonic acidemia	Uncertain significance (May 4, 2020)	no assertion criteria provided
Select item 99042255.	NM_001243279.3(ACSF3):c.194G>A (p.Arg65His) GRCh37: Chr16:89167283 GRCh38: Chr16:89100875	ACSF3	R65H	Combined malonic and methylmalonic acidemia	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 99042156.	NM_001243279.3(ACSF3):c.190G>A (p.Gly64Ser) GRCh37: Chr16:89167279 GRCh38: Chr16:89100871	ACSF3	G64S	Methylmalonic acidemia	Uncertain significance (Sep 9, 2020)	no assertion criteria provided
Select item 99042057.	NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) GRCh37: Chr16:89167268 GRCh38: Chr16:89100860	ACSF3	V60G	not provided, Combined malonic and methylmalonic acidemia	Uncertain significance (Feb 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99041958.	NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys) GRCh37: Chr16:89167234 GRCh38: Chr16:89100826	ACSF3	R49C	Combined malonic and methylmalonic acidemia, Inborn genetic diseases	Uncertain significance (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99041859.	NM_001243279.3(ACSF3):c.135G>A (p.Pro45=) GRCh37: Chr16:89167224 GRCh38: Chr16:89100816	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 99041760.	NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu) GRCh37: Chr16:89167223 GRCh38: Chr16:89100815	ACSF3	P45L	Methylmalonic acidemia	Uncertain significance (Aug 4, 2020)	no assertion criteria provided
Select item 99041661.	NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) GRCh37: Chr16:89167219 GRCh38: Chr16:89100811	ACSF3	A44T	Combined malonic and methylmalonic acidemia	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99041562.	NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu) GRCh37: Chr16:89167212 GRCh38: Chr16:89100804	ACSF3	D41E	Methylmalonic acidemia	Uncertain significance (Oct 10, 2020)	no assertion criteria provided
Select item 99041463.	NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) GRCh37: Chr16:89167205 GRCh38: Chr16:89100797	ACSF3	R39H	not provided, Combined malonic and methylmalonic acidemia	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99041364.	NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) GRCh37: Chr16:89167132 GRCh38: Chr16:89100724	ACSF3	A15T	Combined malonic and methylmalonic acidemia, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 99041265.	NM_001243279.3(ACSF3):c.18G>A (p.Val6=) GRCh37: Chr16:89167107 GRCh38: Chr16:89100699	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 99041166.	NM_001243279.3(ACSF3):c.-8T>A GRCh37: Chr16:89167082 GRCh38: Chr16:89100674	ACSF3		Combined malonic and methylmalonic acidemia	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 99041067.	NM_001243279.3(ACSF3):c.-10T>G GRCh37: Chr16:89167080 GRCh38: Chr16:89100672	ACSF3		Methylmalonic acidemia	Uncertain significance (Sep 23, 2020)	no assertion criteria provided
Select item 92883468.	NM_000255.4(MMUT):c.421del (p.Ala141fs) GRCh37: Chr6:49425736 GRCh38: Chr6:49458023	MMUT	A141fs	Methylmalonic acidemia	Pathogenic (Aug 15, 2019)	criteria provided, single submitter
Select item 83982569.	NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) GRCh37: Chr16:89167513 GRCh38: Chr16:89101105	ACSF3	Q142*	Combined malonic and methylmalonic acidemia	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 78708670.	NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) GRCh37: Chr16:89167479 GRCh38: Chr16:89101071	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 76452971.	NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) GRCh37: Chr16:89167401 GRCh38: Chr16:89100993	ACSF3		not provided, Combined malonic and methylmalonic acidemia	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75806572.	NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) GRCh37: Chr16:89178532 GRCh38: Chr16:89112124	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 74780873.	NM_172250.3(MMAA):c.787C>T (p.Leu263=) GRCh37: Chr4:146572267 GRCh38: Chr4:145651115	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 73753274.	NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) GRCh37: Chr16:89167131 GRCh38: Chr16:89100723	ACSF3		Combined malonic and methylmalonic acidemia	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 68211375.	NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) GRCh37: Chr16:89167446 GRCh38: Chr16:89101038	ACSF3		not provided, Combined malonic and methylmalonic acidemia	Likely benign (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65879276.	NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) GRCh37: Chr16:89167402 GRCh38: Chr16:89100994	ACSF3	D105N	Combined malonic and methylmalonic acidemia, Inborn genetic diseases	Uncertain significance (Mar 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65788777.	NM_000255.4(MMUT):c.281G>T (p.Gly94Val) GRCh37: Chr6:49426899 GRCh38: Chr6:49459186	MMUT	G94V	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, not provided	Pathogenic (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63332278.	NM_000255.4(MMUT):c.753+1G>A GRCh37: Chr6:49425403 GRCh38: Chr6:49457690	MMUT		not provided, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic/Likely pathogenic (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57814179.	NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) GRCh37: Chr6:49419314-49419315 GRCh38: Chr6:49451601-49451602	MMUT	V399fs	not provided, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57460180.	NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) GRCh37: Chr6:49403267 GRCh38: Chr6:49435554	MMUT	A676T	MMUT-related condition, not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Conflicting interpretations of pathogenicity (Apr 5, 2023)	criteria provided, conflicting interpretations
Select item 55696881.	NM_000255.4(MMUT):c.1677-1G>C GRCh37: Chr6:49409685 GRCh38: Chr6:49441972	MMUT		not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Pathogenic/Likely pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55678282.	NM_000255.4(MMUT):c.1946del (p.Pro649fs) GRCh37: Chr6:49407929 GRCh38: Chr6:49440216	MMUT	P649fs	not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Pathogenic/Likely pathogenic (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55612483.	NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) GRCh37: Chr6:49415412 GRCh38: Chr6:49447699	MMUT	R511*	not provided, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55487384.	NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) GRCh37: Chr6:49416553 GRCh38: Chr6:49448840	MMUT	R474*	not provided, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55467585.	NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) GRCh37: Chr6:49409620 GRCh38: Chr6:49441907	MMUT	R581*	not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Pathogenic (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55464186.	NM_000255.4(MMUT):c.671_678dup (p.Val227fs) GRCh37: Chr6:49425478-49425479 GRCh38: Chr6:49457765-49457766	MMUT	V227fs	not provided, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55427887.	NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) GRCh37: Chr6:49419224 GRCh38: Chr6:49451511	MMUT	Y429*	not provided, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55395888.	NM_000255.4(MMUT):c.1022dup (p.Asn341fs) GRCh37: Chr6:49421358-49421359 GRCh38: Chr6:49453645-49453646	MMUT	N341fs	Methylmalonic acidemia, not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55376289.	NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) GRCh37: Chr6:49423854 GRCh38: Chr6:49456141	MMUT	G284*	not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Pathogenic (May 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55271890.	NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) GRCh37: Chr6:49425487 GRCh38: Chr6:49457774	MMUT	E224*	not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Pathogenic/Likely pathogenic (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55207991.	NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) GRCh37: Chr6:49425427-49425428 GRCh38: Chr6:49457714-49457715	MMUT	D244fs	not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Pathogenic (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55149992.	NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) GRCh37: Chr6:49408029 GRCh38: Chr6:49440316	MMUT	R616C	not provided, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic/Likely pathogenic (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55127593.	NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) GRCh37: Chr6:49415462 GRCh38: Chr6:49447749	MMUT	L494*	Methylmalonic acidemia, not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55121494.	NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) GRCh37: Chr12:109999290 GRCh38: Chr12:109561485	MMAB	E152*	Methylmalonic acidemia, Methylmalonic aciduria, cblB type	Pathogenic/Likely pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55118295.	NM_172250.3(MMAA):c.450dup (p.Pro151fs) GRCh37: Chr4:146563522-146563523 GRCh38: Chr4:145642370-145642371	MMAA	P151fs	not provided, Methylmalonic aciduria, cblA type, Methylmalonic acidemia	Pathogenic (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55020996.	NM_172250.3(MMAA):c.411_414del (p.Asn137fs) GRCh37: Chr4:146560699-146560702 GRCh38: Chr4:145639547-145639550	MMAA	N137fs	Methylmalonic aciduria, cblA type, Methylmalonic acidemia	Pathogenic/Likely pathogenic (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55001297.	NM_000255.4(MMUT):c.1677-1G>A GRCh37: Chr6:49409685 GRCh38: Chr6:49441972	MMUT		not provided, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia	Pathogenic (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 50665698.	NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) GRCh37: Chr16:89187216 GRCh38: Chr16:89120808	ACSF3		Combined malonic and methylmalonic acidemia, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49655499.	NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) GRCh37: Chr4:146572222 GRCh38: Chr4:145651070	MMAA	Q248*	Methylmalonic acidemia, Methylmalonic aciduria, cblA type	Pathogenic (Oct 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 495778100.	NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) GRCh37: Chr6:49416574 GRCh38: Chr6:49448861	MMUT	R467*	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, not provided	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts

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