"Revvity Omics, Revvity"[submitter] AND "MMACHC"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556190	NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	MMACHC (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 2689434	NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)	MMACHC (P18S)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 2690643	NM_015506.3(MMACHC):c.81+1G>C	MMACHC	Single nucleotide variant (splice donor variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 2195989	NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)	MMACHC (T47N)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +1 more	GUncertain significance
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 1684050	NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)	MMACHC (I42T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553635	NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)	MMACHC (D47fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 203835	NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	MMACHC (N53fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease +1 more	GPathogenic
Select item 875417	NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)	MMACHC (N110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1424	NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	MMACHC (R111* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 775548	NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	MMACHC (R111Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 439905	NM_015506.3(MMACHC):c.352del (p.Gln118fs)	MMACHC (Q118fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 203833	NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	MMACHC (Y130del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 297484	NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	MMACHC (Y130C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +3 more	GPathogenic
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 203829	NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	MMACHC (G147D +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
Select item 203828	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC (G147A +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GPathogenic/Likely pathogenic
Select item 871725	NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys)	MMACHC (W100C +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
Select item 203830	NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	MMACHC (F158L +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 848845	NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	LOC129930446, MMACHC (R206Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1111059	NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)	MMACHC (P191R +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 208197	NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	MMACHC	Deletion (inframe_deletion)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 378150	NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	MMACHC (R267Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +3 more	GUncertain significance
Select item 197306	NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	MMACHC	Single nucleotide variant (stop lost)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 27