"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MMACHC"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1545615	NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)	MMACHC (P3R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297479	NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)	MMACHC (V23F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GUncertain significance
Select item 1946262	NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)	MMACHC (T55M)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +1 more	GUncertain significance
Select item 203824	NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	MMACHC (R61W +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +4 more	GUncertain significance
Select item 1693904	NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)	MMACHC (M17I +1 more)	Single nucleotide variant (missense variant)	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 297482	NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)	MMACHC (P109L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 557293	NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	MMACHC (H122N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1328321	NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)	MMACHC (I145V +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
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 813351	NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)	MMACHC (R161G +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
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 556708	NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	MMACHC (I190fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease +1 more	GPathogenic
Select item 1992303	NM_015506.3(MMACHC):c.602G>A (p.Arg201His)	LOC129930446, MMACHC (R144H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 3379667	NM_015506.3(MMACHC):c.611C>T (p.Thr204Ile)	MMACHC, LOC129930446 (T147I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2188165	NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)	LOC129930446, MMACHC (V152E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2076119	NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)	LOC129930446, MMACHC (P154T +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 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 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 967885	NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)	MMACHC (P200L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 554073	NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	MMACHC	Single nucleotide variant (stop lost)	Cobalamin C disease +3 more	GConflicting classifications of pathogenicity

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Items: 25