"Counsyl"[submitter] AND "LOC129930446"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95705	NM_015506.3(MMACHC):c.603T>C (p.Arg201=)	MMACHC, LOC129930446	Single nucleotide variant (synonymous variant)	Cobalamin C disease +1 more	GConflicting classifications of pathogenicity
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 558292	NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)	LOC129930446, MMACHC (Y205* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 281007	NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	LOC129930446, MMACHC (Y205* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 203832	NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	LOC129930446, MMACHC (R206W +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 558321	NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	LOC129930446, MMACHC (R206P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 550046	NM_015506.3(MMACHC):c.626_627del (p.Val209fs)	LOC129930446, MMACHC (V209fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
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 488706	NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	LOC129930446, MMACHC (R230* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +2 more	GConflicting classifications of pathogenicity