"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MMUT"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555168	NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)	MMUT (L736F)	Single nucleotide variant (missense variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GConflicting classifications of pathogenicity
Select item 222942	NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)	MMUT (A732fs)	Indel (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 218998	NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	MMUT (R727*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +3 more	GPathogenic
Select item 1881	NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	MMUT (G717V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 1582969	NM_000255.4(MMUT):c.2124+16A>G	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 999265	NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala)	MMUT (D696A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1038735	NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu)	MMUT (P695L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 759969	NM_000255.4(MMUT):c.2082G>A (p.Arg694=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1143831	NM_000255.4(MMUT):c.2046T>C (p.Val682=)	MMUT	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 574601	NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	MMUT (A676T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 222939	NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)	MMUT (Q659*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1519718	NM_000255.4(MMUT):c.1970T>C (p.Val657Ala)	MMUT (V657A)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 909634	NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)	MMUT (R655C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1601040	NM_000255.4(MMUT):c.1956+17G>C	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GBenign/Likely benign
Select item 550143	NM_000255.4(MMUT):c.1956+2T>C	MMUT	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1205984	NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)	MMUT (T636A)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 426995	NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	MMUT (G630E)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic/Likely pathogenic
Select item 551830	NM_000255.4(MMUT):c.1880A>G (p.His627Arg)	MMUT (H627R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 566057	NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)	MMUT (M622T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 551499	NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	MMUT (R616C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1483409	NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys)	MMUT (R610C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 651129	NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)	MMUT (E593Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 937137	NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu)	MMUT (R588L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 509453	NM_000255.4(MMUT):c.1676+10T>C	MMUT	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1367048	NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln)	MMUT (R557Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 357257	NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp)	MMUT (R557W)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 203850	NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)	MMUT (A555T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 910560	NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)	MMUT (G544R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1525899	NM_000255.4(MMUT):c.1607C>T (p.Ala536Val)	MMUT (A536V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763698	NM_000255.4(MMUT):c.1512A>G (p.Ala504=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 92679	NM_000255.4(MMUT):c.1445-2A>G	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1599761	NM_000255.4(MMUT):c.1444+13G>A	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1363055	NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro)	MMUT (R474P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444683	NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)	MMUT (A473S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1435195	NM_000255.4(MMUT):c.1415C>T (p.Ala472Val)	MMUT (A472V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 965332	NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln)	MMUT (R467Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 495778	NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	MMUT (R467*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 382974	NM_000255.4(MMUT):c.1333-18T>G	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GBenign/Likely benign
Select item 357261	NM_000255.4(MMUT):c.1332+3A>C	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 554656	NM_000255.4(MMUT):c.1332+1del	MMUT	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 218990	NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	MMUT (G427D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 968777	NM_000255.4(MMUT):c.1261G>A (p.Val421Met)	MMUT (V421M)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 978689	NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)	MMUT (I412del)	Microsatellite (inframe_deletion)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely pathogenic
Select item 167310	NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	MMUT (R403*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1422287	NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)	MMUT (T387P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 290030	NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr)	MMUT (I372T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 556535	NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)	MMUT (N365fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203846	NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	MMUT (R369H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 908837	NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)	MMUT (Y364S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 222928	NM_000255.4(MMUT):c.1084-2A>G	MMUT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1537943	NM_000255.4(MMUT):c.1084-12C>T	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 384232	NM_000255.4(MMUT):c.1083+20T>C	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 225184	NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)	MMUT (L347del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552752	NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)	MMUT (L328P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203844	NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)	MMUT (L328F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550893	NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	MMUT (A324T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1138384	NM_000255.4(MMUT):c.954A>G (p.Glu318=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 640484	NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)	MMUT (Y316C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1417799	NM_000255.4(MMUT):c.912G>A (p.Arg304=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1665711	NM_000255.4(MMUT):c.912-13G>A	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 1624649	NM_000255.4(MMUT):c.912-14C>T	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 445873	NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)	MMUT (Q293R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 553762	NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	MMUT (G284*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
Select item 235614	NM_000255.4(MMUT):c.781A>G (p.Ile261Val)	MMUT (I261V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1154630	NM_000255.4(MMUT):c.756C>T (p.His252=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 522265	NM_000255.4(MMUT):c.754-7del	MMUT	Deletion (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GBenign/Likely benign
Select item 203856	NM_000255.4(MMUT):c.753+2T>A	MMUT	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 633322	NM_000255.4(MMUT):c.753+1G>A	MMUT	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1209609	NM_000255.4(MMUT):c.733A>G (p.Ile245Val)	MMUT (I245V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 222920	NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	MMUT (Y231*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 552718	NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	MMUT (E224*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic/Likely pathogenic
Select item 1886	NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	MMUT (N219Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 551243	NM_000255.4(MMUT):c.654A>C (p.Gln218His)	MMUT (Q218H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1073632	NM_000255.4(MMUT):c.581C>T (p.Pro194Leu)	MMUT (P194L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203854	NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	MMUT (A191E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more	GPathogenic
Select item 222915	NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)	MMUT (N189I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551460	NM_000255.4(MMUT):c.556A>G (p.Met186Val)	MMUT (M186V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 909696	NM_000255.4(MMUT):c.499G>A (p.Val167Met)	MMUT (V167M)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 426467	NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	MMUT (R152*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 499708	NM_000255.4(MMUT):c.431G>A (p.Arg144His)	MMUT (R144H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 506861	NM_000255.4(MMUT):c.423G>A (p.Ala141=)	MMUT	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 842894	NM_000255.4(MMUT):c.406G>A (p.Val136Ile)	MMUT (V136I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 557861	NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	MMUT (K121*)	Duplication (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 1442049	NM_000255.4(MMUT):c.359A>G (p.Asn120Ser)	MMUT (N120S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100707	NM_000255.4(MMUT):c.323G>A (p.Arg108His)	MMUT (R108H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more	GPathogenic
Select item 1887	NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)	MMUT (R108C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +4 more	GPathogenic
Select item 419283	NM_000255.4(MMUT):c.312del (p.Trp105fs)	MMUT (W105fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374213	NM_000255.4(MMUT):c.284C>T (p.Pro95Leu)	MMUT (P95L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 657887	NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	MMUT (G94V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 167312	NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)	MMUT (G94R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1880	NM_000255.4(MMUT):c.278G>A (p.Arg93His)	MMUT (R93H)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 553773	NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)	MMUT (P86L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1016633	NM_000255.4(MMUT):c.227G>A (p.Arg76Lys)	MMUT (R76K)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 973480	NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)	MMUT (T63I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1001769	NM_000255.4(MMUT):c.161A>G (p.Lys54Arg)	MMUT (K54R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1110497	NM_000255.4(MMUT):c.123A>G (p.Pro41=)	MMUT	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 92688	NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	MMUT (R31*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +3 more	GPathogenic
Select item 222907	NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)	MMUT (Q30*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1072649	NM_000255.4(MMUT):c.29del (p.Leu10fs)	MMUT (L10fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 100697	NM_000255.4(MMUT):c.-35G>T	MMUT	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance

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Items: 100