"GeneReviews"[submitter] AND "MMACHC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	not specified +5 more	GPathogenic
Select item 1424	NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	MMACHC (R111* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 1422	NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	MMACHC (L116P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +3 more	GPathogenic
Select item 203828	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC (G147A +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GPathogenic/Likely pathogenic
Select item 1425	NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	MMACHC (R161Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GPathogenic
Select item 30800	NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	LOC129930446, MMACHC (W203* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic

ClinVar