"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MMUT"[gene - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222942	NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)	MMUT (A732fs)	Indel (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 218998	NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	MMUT (R727*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more	GPathogenic
Select item 574601	NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	MMUT (A676T)	Single nucleotide variant (missense variant)	MMUT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1685951	NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)	MMUT (P615T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic
Select item 554675	NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	MMUT (R581*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 92682	NM_000255.4(MMUT):c.1629C>T (p.Ser543=)	MMUT	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 870904	NM_000255.4(MMUT):c.1444+1del	MMUT	Deletion (splice donor variant)	not provided	GPathogenic
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 1176511	NM_000255.4(MMUT):c.1230_1235del (p.Ile411_Ile412del)	MMUT	Deletion (inframe_deletion)	not provided	GPathogenic
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 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 218989	NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)	MMUT (R369C)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 445873	NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)	MMUT (Q293R)	Single nucleotide variant (missense variant)	MMUT-related condition +3 more	GConflicting classifications of pathogenicity
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 218987	NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	MMUT (G203R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1013291	NM_000255.4(MMUT):c.570A>C (p.Gly190=)	MMUT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 553695	NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)	MMUT (R93C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 871258	NM_000255.4(MMUT):c.109C>T (p.Gln37Ter)	MMUT (Q37*)	Single nucleotide variant (nonsense)	not provided	GPathogenic