MMUT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 149548	GRCh38/hg38 6p12.3(chr6:49345635-49462709)x0	MMUT	Copy number loss	See cases	GPathogenic
Select item 357235	NM_000255.4(MMUT):c.*1326G>A	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GBenign
Select item 909572	NM_000255.4(MMUT):c.*1319C>T	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357236	NM_000255.4(MMUT):c.*1252T>C	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357237	NM_000255.4(MMUT):c.*1214C>A	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 910501	NM_000255.4(MMUT):c.*1184T>C	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 910502	NM_000255.4(MMUT):c.*1182T>C	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357238	NM_000255.4(MMUT):c.*1107dup	MMUT	Duplication (3 prime UTR variant)	Methylmalonic acidemia	GLikely benign
Select item 910503	NM_000255.4(MMUT):c.*1044T>A	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357239	NM_000255.4(MMUT):c.*986G>A	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357240	NM_000255.4(MMUT):c.*775A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357241	NM_000255.4(MMUT):c.*691T>C	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 911733	NM_000255.4(MMUT):c.*636T>A	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 911734	NM_000255.4(MMUT):c.*627C>T	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357242	NM_000255.4(MMUT):c.*580A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GBenign
Select item 357243	NM_000255.4(MMUT):c.*558A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 911735	NM_000255.4(MMUT):c.*466G>A	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357244	NM_000255.4(MMUT):c.*465C>T	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 911736	NM_000255.4(MMUT):c.*445A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 911737	NM_000255.4(MMUT):c.*281G>A	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357245	NM_000255.4(MMUT):c.*278A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 357246	NM_000255.4(MMUT):c.*257A>C	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1227019	NM_000255.4(MMUT):c.*201dup	MMUT	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 357247	NM_000255.4(MMUT):c.*201del	MMUT	Deletion (3 prime UTR variant)	Methylmalonic acidemia +1 more	GBenign/Likely benign
Select item 357248	NM_000255.4(MMUT):c.*200A>T	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357249	NM_000255.4(MMUT):c.*162A>C	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 357250	NM_000255.4(MMUT):c.*126A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357251	NM_000255.4(MMUT):c.*103A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 357252	NM_000255.4(MMUT):c.*101G>A	MMUT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 357253	NM_000255.4(MMUT):c.*43G>T	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 908777	NM_000255.4(MMUT):c.*34A>G	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 1460080	NM_000255.4(MMUT):c.2252A>G (p.Ter751=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983956	NM_000255.4(MMUT):c.2250A>G (p.Val750=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762253	NM_000255.4(MMUT):c.2250A>T (p.Val750=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914232	NM_000255.4(MMUT):c.2244A>G (p.Gln748=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082774	NM_000255.4(MMUT):c.2238G>C (p.Lys746Asn)	MMUT (K746N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1077343	NM_000255.4(MMUT):c.2238G>A (p.Lys746=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575713	NM_000255.4(MMUT):c.2229G>A (p.Leu743=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941193	NM_000255.4(MMUT):c.2224T>G (p.Cys742Gly)	MMUT (C742G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107769	NM_000255.4(MMUT):c.2217T>C (p.Ile739=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339243	NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly)	MMUT (D738G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
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 2110228	NM_000255.4(MMUT):c.2201A>G (p.Gln734Arg)	MMUT (Q734R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418300	NM_000255.4(MMUT):c.2201A>C (p.Gln734Pro)	MMUT (Q734P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222943	NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	MMUT (Q734*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic
Select item 958587	NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)	MMUT (V733fs)	Insertion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 552549	NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)	MMUT (V733I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GUncertain significance
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 222941	NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs)	MMUT (V733fs)	Duplication (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 720209	NM_000255.4(MMUT):c.2196C>T (p.Ala732=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1073042	NM_000255.4(MMUT):c.2194dup (p.Ala732fs)	MMUT (A732fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2908166	NM_000255.4(MMUT):c.2193dup (p.Ala732fs)	MMUT (A732fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2747767	NM_000255.4(MMUT):c.2193T>A (p.Ala731=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005978	NM_000255.4(MMUT):c.2187A>C (p.Pro729=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1155377	NM_000255.4(MMUT):c.2181A>G (p.Arg727=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433768	NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)	MMUT (R727Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 2861116	NM_000255.4(MMUT):c.2179C>A (p.Arg727=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2201796	NM_000255.4(MMUT):c.2168G>A (p.Gly723Asp)	MMUT (G723D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2781233	NM_000255.4(MMUT):c.2167G>A (p.Gly723Ser)	MMUT (G723S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2150080	NM_000255.4(MMUT):c.2162T>C (p.Val721Ala)	MMUT (V721A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459265	NM_000255.4(MMUT):c.2159_2160del (p.Asn720fs)	MMUT (N720fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1151076	NM_000255.4(MMUT):c.2160T>C (p.Asn720=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986659	NM_000255.4(MMUT):c.2159A>G (p.Asn720Ser)	MMUT (N720S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413059	NM_000255.4(MMUT):c.2159A>T (p.Asn720Ile)	MMUT (N720I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737563	NM_000255.4(MMUT):c.2150G>A (p.Gly717Asp)	MMUT (G717D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1391534	NM_000255.4(MMUT):c.2146G>A (p.Val716Ile)	MMUT (V716I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713620	NM_000255.4(MMUT):c.2139G>A (p.Leu713=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673970	NM_000255.4(MMUT):c.2139G>T (p.Leu713=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745119	NM_000255.4(MMUT):c.2137C>T (p.Leu713=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 554041	NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)	MMUT (E711*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1086418	NM_000255.4(MMUT):c.2130T>C (p.Tyr710=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648656	NM_000255.4(MMUT):c.2127T>C (p.Asp709=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632489	NM_000255.4(MMUT):c.2125-2A>G	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 657043	NM_000255.4(MMUT):c.2125-3C>G	MMUT	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1569363	NM_000255.4(MMUT):c.2125-10C>T	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654004	NM_000255.4(MMUT):c.2125-14C>T	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738038	NM_000255.4(MMUT):c.2125-15A>G	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918854	NM_000255.4(MMUT):c.2125-17A>G	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202930	NM_000255.4(MMUT):c.2125-218G>A	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2728865	NM_000255.4(MMUT):c.2124+12C>G	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712413	NM_000255.4(MMUT):c.2124+10A>G	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2139471	NM_000255.4(MMUT):c.2124+9dup	MMUT	Duplication (intron variant)	not provided	GBenign
Select item 1604874	NM_000255.4(MMUT):c.2124+9T>A	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1100356	NM_000255.4(MMUT):c.2124+7T>C	MMUT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1356544	NM_000255.4(MMUT):c.2124+4T>C	MMUT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2734884	NM_000255.4(MMUT):c.2124+1G>A	MMUT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1469916	NM_000255.4(MMUT):c.2123A>G (p.Gln708Arg)	MMUT (Q708R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363286	NM_000255.4(MMUT):c.2122C>T (p.Gln708Ter)	MMUT (Q708*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3178812	NM_000255.4(MMUT):c.2119C>T (p.Pro707Ser)	MMUT (P707S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 692058	NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg)	MMUT (I705R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1091094	NM_000255.4(MMUT):c.2112G>A (p.Val704=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1885	NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg)	MMUT (G703R)	Single nucleotide variant (missense variant)	METHYLMALONIC ACIDURIA, mut(0) TYPE	GPathogenic
Select item 555523	NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)	MMUT	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1677118	NM_000255.4(MMUT):c.2098_2099del (p.Met700fs)	MMUT (M700fs)	Deletion (frameshift variant)	Methylmalonic acidemia	GPathogenic
Select item 218997	NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)	MMUT (M700K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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