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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990260	NM_172250.3(MMAA):c.-4G>A	MMAA	Single nucleotide variant (5 prime UTR variant)	MMAA-related disorder	GLikely benign
Select item 705207	NM_172250.3(MMAA):c.57A>G (p.Ala19=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +1 more	GLikely benign
Select item 262806	NM_172250.3(MMAA):c.138T>C (p.Ser46=)	MMAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1117756	NM_172250.3(MMAA):c.378A>G (p.Val126=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +1 more	GLikely benign
Select item 203814	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA (Y129*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +3 more	GPathogenic
Select item 3160	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA (R145*)	Single nucleotide variant (nonsense)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 1154388	NM_172250.3(MMAA):c.585C>T (p.Thr195=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +1 more	GLikely benign
Select item 1361666	NM_172250.3(MMAA):c.639del (p.Arg214fs)	MMAA (R214fs)	Deletion (frameshift variant)	MMAA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 511282	NM_172250.3(MMAA):c.729C>T (p.Thr243=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +2 more	GLikely benign
Select item 138237	NM_172250.3(MMAA):c.747G>A (p.Ser249=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +1 more	GBenign
Select item 552542	NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	MMAA (G278D)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GConflicting classifications of pathogenicity
Select item 3054049	NM_172250.3(MMAA):c.915A>G (p.Glu305=)	MMAA	Single nucleotide variant (synonymous variant)	MMAA-related disorder	GLikely benign
Select item 721179	NM_172250.3(MMAA):c.966A>G (p.Pro322=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +1 more	GConflicting classifications of pathogenicity
Select item 96533	NM_172250.3(MMAA):c.1089G>C (p.Gln363His)	MMAA (Q363H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign