"Ambry Genetics"[submitter] AND "LOC129930446"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1992303	NM_015506.3(MMACHC):c.602G>A (p.Arg201His)	LOC129930446, MMACHC (R144H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GUncertain significance
Select item 2464129	NM_015506.3(MMACHC):c.605A>T (p.Asp202Val)	LOC129930446, MMACHC (D145V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188165	NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)	MMACHC, LOC129930446 (V152E +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GUncertain significance
Select item 465313	NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)	LOC129930446, MMACHC (E217V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2535166	NM_015506.3(MMACHC):c.667T>C (p.Phe223Leu)	LOC129930446, MMACHC (F166L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528112	NM_015506.3(MMACHC):c.668T>C (p.Phe223Ser)	LOC129930446, MMACHC (F166S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar