C1848561[trait identifier] AND "Neurology Department, Peking Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203825	NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	MMACHC (R73* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 203834	NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	MMACHC (C92fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
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
Select item 95707	NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	LOC129930446, MMACHC (K220del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic

ClinVar