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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307075	NM_052845.4(MMAB):c.732G>A (p.Ser244=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 96245	NM_052845.4(MMAB):c.716T>A (p.Met239Lys)	MMAB (M239K)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +2 more	GBenign
Select item 307076	NM_052845.4(MMAB):c.678T>C (p.Tyr226=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	MMAB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 307077	NM_052845.4(MMAB):c.644+7G>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 262248	NM_052845.4(MMAB):c.584+24A>G	MMAB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 3095	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	MMAB (R186W)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +4 more	GPathogenic/Likely pathogenic
Select item 1451421	NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)	MMAB (G175*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type +1 more	GPathogenic
Select item 219005	NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)	MMAB (A135T)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +3 more	GConflicting classifications of pathogenicity
Select item 466215	NM_052845.4(MMAB):c.349-8dup	MMAB	Duplication (intron variant)	Methylmalonic aciduria, cblB type +1 more	GBenign/Likely benign
Select item 262245	NM_052845.4(MMAB):c.333C>T (p.Ala111=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 96243	NM_052845.4(MMAB):c.288T>C (p.Ile96=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 203817	NM_052845.4(MMAB):c.185C>T (p.Thr62Met)	MMAB, MVK (T62M)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +5 more	GBenign/Likely benign
Select item 706935	NM_052845.4(MMAB):c.150G>A (p.Ser50=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 262244	NM_052845.4(MMAB):c.135-23T>C	MMAB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 763309	NM_052845.4(MMAB):c.99G>A (p.Gln33=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 262246	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	MMAB, MVK (R19H)	Single nucleotide variant (missense variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 711515	NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)	MMAB, MVK (C4R)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 513728	NM_052845.4(MMAB):c.-7C>G	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 129638	NM_000431.4(MVK):c.155G>A (p.Ser52Asn)	MMAB, MVK (S52N)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign

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Items: 20