"Counsyl"[submitter] AND "MMACHC"[gene] - ClinVar

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Items: 74

	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)	not provided +1 more	GPathogenic
Select item 557424	NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)	MMACHC (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	Cobalamin C disease	GPathogenic/Likely pathogenic
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 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 553615	NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)	MMACHC (Y24*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely pathogenic
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 556899	NM_015506.3(MMACHC):c.81+2T>G	MMACHC	Single nucleotide variant (splice donor variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 438649	NM_015506.3(MMACHC):c.82-11_82-8del	MMACHC	Deletion (5 prime UTR variant +1 more)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 556698	NM_015506.3(MMACHC):c.82-1G>A	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 555758	NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	MMACHC (W30*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GPathogenic/Likely pathogenic
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 556123	NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)	MMACHC (E92fs +1 more)	Microsatellite (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 551516	NM_015506.3(MMACHC):c.277-8_277-3dup	MMACHC	Duplication (intron variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
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 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 553788	NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)	MMACHC (Y105* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 203835	NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	MMACHC (N53fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 1422	NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	MMACHC (L116P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 552478	NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)	MMACHC (A117P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	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)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 556411	NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)	MMACHC	Deletion (inframe_deletion)	Cobalamin C disease	GUncertain significance
Select item 558102	NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	MMACHC (Y129fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 554158	NM_015506.3(MMACHC):c.392_394del (p.Gln131del)	MMACHC (Q131del +1 more)	Deletion (inframe_deletion)	Cobalamin C disease	GUncertain significance
Select item 549923	NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)	MMACHC (Q131* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GLikely pathogenic
Select item 552495	NM_015506.3(MMACHC):c.395_397del (p.Arg132del)	MMACHC (R132del +1 more)	Deletion (inframe_deletion)	Cobalamin C disease	GUncertain significance
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 +3 more	GPathogenic
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 297485	NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)	MMACHC (V135L +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 558633	NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)	MMACHC (Q143* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GLikely pathogenic
Select item 550731	NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)	MMACHC	Deletion (inframe_deletion)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 203829	NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	MMACHC (G147D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550539	NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	MMACHC (R153* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 554696	NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	MMACHC (G156D +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 553844	NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	MMACHC (W157* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 203830	NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	MMACHC (F158L +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +4 more	GUncertain significance
Select item 95703	NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	MMACHC (R161* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 555134	NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)	MMACHC (L166del +1 more)	Microsatellite (inframe_deletion)	Cobalamin C disease	GUncertain significance
Select item 556532	NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	MMACHC (P167fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 553370	NM_015506.3(MMACHC):c.500del (p.Pro167fs)	MMACHC (P167fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 556017	NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	MMACHC (E113fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 555592	NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)	MMACHC (D181fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 551269	NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)	MMACHC (C182R +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 558524	NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)	MMACHC	Deletion (inframe_deletion)	Cobalamin C disease	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 558690	NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	MMACHC (R189S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 556708	NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	MMACHC (I190fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
Select item 417857	NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	MMACHC (R189H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GConflicting classifications of pathogenicity
Select item 556363	NM_015506.3(MMACHC):c.574del (p.Leu192fs)	MMACHC (L135fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 95705	NM_015506.3(MMACHC):c.603T>C (p.Arg201=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	not provided +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)	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)	not provided +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	GConflicting classifications of pathogenicity
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)	not provided +1 more	GPathogenic
Select item 488706	NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	LOC129930446, MMACHC (R230* +1 more)	Single nucleotide variant (nonsense)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 550634	NM_015506.3(MMACHC):c.701del (p.Leu234fs)	MMACHC (L234fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 550988	NM_015506.3(MMACHC):c.728del (p.Pro243fs)	MMACHC (P243fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 556512	NM_015506.3(MMACHC):c.745dup (p.Asp249fs)	MMACHC (D192fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 552427	NM_015506.3(MMACHC):c.771dup (p.Lys258fs)	MMACHC (K258fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 557307	NM_015506.3(MMACHC):c.799dup (p.Arg267fs)	MMACHC (R267fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 555532	NM_015506.3(MMACHC):c.839del (p.Pro280fs)	MMACHC (P280fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 554459	NM_015506.3(MMACHC):c.840del (p.Gly281fs)	MMACHC (G224fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 554600	NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)	MMACHC	Deletion (frameshift variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 554073	NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	MMACHC	Single nucleotide variant (stop lost)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 551602	NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)	MMACHC	Deletion (frameshift variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 197306	NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	MMACHC	Single nucleotide variant (stop lost)	MMACHC-related condition +3 more	GConflicting classifications of pathogenicity
Select item 556218	NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)	MMACHC	Deletion (frameshift variant +1 more)	Cobalamin C disease	GUncertain significance
Select item 550828	NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)	MMACHC	Single nucleotide variant (stop lost)	Cobalamin C disease	GUncertain significance
Select item 297490	NM_015506.3(MMACHC):c.*5C>G	MMACHC	Single nucleotide variant (3 prime UTR variant)	Cobalamin C disease +1 more	GUncertain significance

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Items: 74