"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC129930446"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1110849	NM_015506.3(MMACHC):c.606T>C (p.Asp202=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 95706	NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	LOC129930446, MMACHC (W203* +1 more)	Single nucleotide variant (nonsense)	not provided +1 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 1094172	NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 496435	NM_015506.3(MMACHC):c.641G>A (p.Arg214His)	LOC129930446, MMACHC (R214H +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +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)	not provided +2 more	GUncertain significance
Select item 705811	NM_015506.3(MMACHC):c.651A>G (p.Glu217=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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
Select item 496436	NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	LOC129930446, MMACHC (Y222* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 288244	NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)	MMACHC, LOC129930446 (A228V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance