"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 439901	NM_172250.3(MMAA):c.970-5G>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type +1 more	GLikely benign
Select item 96533	NM_172250.3(MMAA):c.1089G>C (p.Gln363His)	MMAA (Q363H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GBenign

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