"Natera, Inc."[submitter] AND "MMACHC"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381577	NM_015506.3(MMACHC):c.1A>G (p.Met1Val)	MMACHC (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Cobalamin C disease +1 more	GPathogenic
Select item 203823	NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)	MMACHC (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Cobalamin C disease	GPathogenic
Select item 796470	NM_015506.3(MMACHC):c.75C>A (p.Pro25=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
Select item 552467	NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	MMACHC (Q27R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic
Select item 859433	NM_015506.3(MMACHC):c.81+1G>A	MMACHC	Single nucleotide variant (splice donor variant)	Cobalamin C disease	GPathogenic
Select item 565977	NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)	MMACHC (W30R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 465312	NM_015506.3(MMACHC):c.126G>A (p.Pro42=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 1047063	NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)	MMACHC (A49P)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	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 533860	NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)	MMACHC (R61Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 754774	NM_015506.3(MMACHC):c.199T>C (p.Leu67=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 203825	NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	MMACHC (R73* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 633309	NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)	MMACHC (D77G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 161117	NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)	MMACHC (E92D +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
Select item 297481	NM_015506.3(MMACHC):c.277-4C>G	MMACHC	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 799718	NM_015506.3(MMACHC):c.282C>T (p.Leu94=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 557871	NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	MMACHC (E39fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 501284	NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	MMACHC (Q98* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 451076	NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)	MMACHC (D104V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769422	NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 203826	NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)	MMACHC (E106K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 964526	NM_015506.3(MMACHC):c.319G>A (p.Val107Met)	MMACHC (V107M +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
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 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 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	cblC type of combined methylmalonic aciduria and homocystinuria +4 more	GPathogenic
Select item 377366	NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)	MMACHC (R132Q +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 more	GUncertain significance
Select item 553801	NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	MMACHC (Q133fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 850981	NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)	MMACHC (E136K +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 297486	NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)	MMACHC (I145L +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +3 more	GLikely benign
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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 550539	NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	MMACHC (R153* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 706370	NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)	MMACHC (R153Q +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 737924	NM_015506.3(MMACHC):c.462T>C (p.Phe154=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 512037	NM_015506.3(MMACHC):c.477C>T (p.Ala159=)	MMACHC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 702994	NM_015506.3(MMACHC):c.481C>A (p.Arg161=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 95703	NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	MMACHC (R161* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease +1 more	GPathogenic
Select item 1425	NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	MMACHC (R161Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 506724	NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	MMACHC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 553370	NM_015506.3(MMACHC):c.500del (p.Pro167fs)	MMACHC (P167fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 949931	NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)	MMACHC (I112T +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 95704	NM_015506.3(MMACHC):c.547_548del (p.Val183fs)	MMACHC (V126fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease +1 more	GPathogenic
Select item 297487	NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)	MMACHC (C182Y +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 582087	NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)	MMACHC (V183A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553238	NM_015506.3(MMACHC):c.565del (p.Arg189fs)	MMACHC (R132fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 876445	NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	MMACHC (R132C +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 558690	NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	MMACHC (R189S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
Select item 556708	NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	MMACHC (I190fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 813352	NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)	MMACHC (L193P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1058530	NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)	MMACHC (G138A +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 1075815	NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)	LOC129930446, MMACHC (W143* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
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)	Cobalamin C disease +1 more	GPathogenic
Select item 30800	NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	LOC129930446, MMACHC (W203* +1 more)	Single nucleotide variant (nonsense)	not provided +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 1129839	NM_015506.3(MMACHC):c.627G>C (p.Val209=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1090863	NM_015506.3(MMACHC):c.633C>T (p.Pro211=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 1023220	NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)	LOC129930446, MMACHC (Y158H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic
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 424337	NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)	LOC129930446, MMACHC (E217G +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 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 1035324	NM_015506.3(MMACHC):c.687A>G (p.Gln229=)	MMACHC, LOC129930446	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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
Select item 297488	NM_015506.3(MMACHC):c.691T>C (p.Leu231=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease +1 more	GConflicting classifications of pathogenicity
Select item 760021	NM_015506.3(MMACHC):c.696C>T (p.Ala232=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 382622	NM_015506.3(MMACHC):c.699A>G (p.Leu233=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease +1 more	GLikely benign
Select item 755706	NM_015506.3(MMACHC):c.700T>C (p.Leu234=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 949175	NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)	MMACHC (S245P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
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 703489	NM_015506.3(MMACHC):c.765C>T (p.Pro255=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 747528	NM_015506.3(MMACHC):c.783G>A (p.Gly261=)	MMACHC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 297489	NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)	MMACHC (R267W +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 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 1120444	NM_015506.3(MMACHC):c.816C>A (p.Pro272=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1161101	NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)	MMACHC (V217A +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GLikely benign
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
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
Select item 1219911	NM_015506.3(MMACHC):c.*10A>G	MMACHC	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 297501	NM_015506.3(MMACHC):c.*269A>G	MMACHC	Single nucleotide variant (3 prime UTR variant)	Cobalamin C disease +2 more	GBenign/Likely benign
Select item 297502	NM_015506.3(MMACHC):c.*279A>G	MMACHC	Single nucleotide variant (3 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign

ClinVar

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Items: 92