"PreventionGenetics, part of Exact Sciences"[submitter] AND "MMUT"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 574601	NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	MMUT (A676T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 92685	NM_000255.4(MMUT):c.2011A>G (p.Ile671Val)	MMUT (I671V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 92684	NM_000255.4(MMUT):c.1992G>A (p.Ala664=)	MMUT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1089131	NM_000255.4(MMUT):c.1959T>C (p.Thr653=)	MMUT	Single nucleotide variant (synonymous variant)	MMUT-related disorder +1 more	GLikely benign
Select item 968472	NM_000255.4(MMUT):c.1659G>A (p.Val553=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 92681	NM_000255.4(MMUT):c.1595G>A (p.Arg532His)	MMUT (R532H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 92680	NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)	MMUT (A499T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 +3 more	GBenign/Likely benign
Select item 290321	NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)	MMUT (M375I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 550893	NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	MMUT (A324T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 445873	NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)	MMUT (Q293R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3058225	NM_000255.4(MMUT):c.754-8_754-7dup	MMUT	Duplication (intron variant)	MMUT-related disorder	GLikely benign
Select item 203843	NM_000255.4(MMUT):c.711A>G (p.Pro237=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 551243	NM_000255.4(MMUT):c.654A>C (p.Gln218His)	MMUT (Q218H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 92687	NM_000255.4(MMUT):c.636G>A (p.Lys212=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 534567	NM_000255.4(MMUT):c.566A>G (p.Asn189Ser)	MMUT (N189S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255622	NM_000255.4(MMUT):c.363G>A (p.Lys121=)	MMUT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 235300	NM_000255.4(MMUT):c.205A>G (p.Ile69Val)	MMUT (I69V)	Single nucleotide variant (missense variant)	MMUT-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1110497	NM_000255.4(MMUT):c.123A>G (p.Pro41=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

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Items: 21