"Myriad Genetics, Inc."[submitter] AND "MMACHC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723937	NM_015506.3(MMACHC):c.51del (p.Pro18fs)	MMACHC (P18fs)	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely pathogenic
Select item 1724282	NM_015506.3(MMACHC):c.70del (p.Tyr24fs)	MMACHC (Y24fs)	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely pathogenic
Select item 1724274	NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)	MMACHC (E33*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely pathogenic
Select item 1726156	NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)	MMACHC (L48fs)	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely pathogenic
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	not specified +6 more	GPathogenic
Select item 203828	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC (G147A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 553035	NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	LOC129930446, MMACHC (D150fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 378150	NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	MMACHC (R267Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance

ClinVar