C1848561[trait identifier] AND "Inserm U 954, Faculté de Médecine de N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203827	NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	MMACHC (W140* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 208197	NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	MMACHC	Deletion (inframe_deletion)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity