"Baylor Genetics"[submitter] AND "MVK"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676614	NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)	MMAB, MVK (Q38*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676618	NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)	MMAB, MVK (C21*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676616	NM_052845.4(MMAB):c.32del (p.Gly11fs)	MMAB, MVK (G11fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 550793	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB, MVK (C4*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 234376	NM_000431.4(MVK):c.14T>C (p.Val5Ala)	MVK (V5A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 97581	NM_000431.4(MVK):c.346T>C (p.Tyr116His)	MVK (Y116H)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 11932	NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	MVK (I268T +1 more)	Single nucleotide variant (missense variant)	MVK-related disorder +7 more	GPathogenic
Select item 11929	NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	MVK (V377I +1 more)	Single nucleotide variant (missense variant)	MVK-related disorder +7 more	GPathogenic/Likely pathogenic

ClinVar