ClinVar (all) for Orgtrack (Select 506352) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633604	NM_015506.3(MMACHC):c.364dup (p.His122fs)	MMACHC (H122fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 487521	NM_015702.3(MMADHC):c.24_25del (p.Arg8fs)	MMADHC (R8fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic