"Genome-Nilou Lab"[submitter] AND "MMACHC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297476	NM_015506.3(MMACHC):c.-123A>T	MMACHC	Single nucleotide variant	Cobalamin C disease +1 more	GUncertain significance
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 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 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 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 1120418	NM_015506.3(MMACHC):c.82-10T>C	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease	GLikely benign
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 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 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 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 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 287959	NM_015506.3(MMACHC):c.165G>A (p.Thr55=)	MMACHC	Single nucleotide variant (5 prime UTR variant +1 more)	Cobalamin C disease +1 more	GBenign/Likely benign
Select item 138238	NM_015506.3(MMACHC):c.178G>C (p.Asp60His)	MMACHC (D60H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
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 854802	NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	MMACHC (R4P +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
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 1334896	NM_015506.3(MMACHC):c.187del (p.Leu63fs)	MMACHC (L63fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic
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 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 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 1584019	NM_015506.3(MMACHC):c.259C>T (p.Leu87=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 2078686	NM_015506.3(MMACHC):c.266G>A (p.Arg89His)	MMACHC (R89H +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 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 387463	NM_015506.3(MMACHC):c.276+17T>A	MMACHC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 798702	NM_015506.3(MMACHC):c.277-4C>A	MMACHC	Single nucleotide variant (intron 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 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 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 95702	NM_015506.3(MMACHC):c.321G>A (p.Val107=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease +3 more	GBenign
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 1304703	NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)	MMACHC	Indel (inframe_indel)	Cobalamin C disease +1 more	GUncertain significance
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 297483	NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)	MMACHC (R112C +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
Select item 2147684	NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)	MMACHC (I115V +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GUncertain significance
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 439905	NM_015506.3(MMACHC):c.352del (p.Gln118fs)	MMACHC (Q118fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 917539	NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)	MMACHC (T62R +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
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 558102	NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	MMACHC (Y129fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 813350	NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	MMACHC (Y73H +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	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 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 757973	NM_015506.3(MMACHC):c.402T>C (p.Asp134=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 297485	NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)	MMACHC (V135L +1 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 203827	NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	MMACHC (W140* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 1362501	NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	MMACHC (S146fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic/Likely pathogenic
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 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 1463938	NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)	MMACHC (I88T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1339723	NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)	MMACHC (V148fs +1 more)	Indel (frameshift variant)	Cobalamin C disease	GLikely pathogenic
Select item 533861	NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)	MMACHC (C149Y +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
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 737924	NM_015506.3(MMACHC):c.462T>C (p.Phe154=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 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)	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 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 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 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 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 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 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 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 1708621	NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)	MMACHC (T128P +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 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)	Cobalamin C disease +1 more	GPathogenic
Select item 577085	NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)	MMACHC (A191V +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease	GUncertain significance
Select item 1114100	NM_015506.3(MMACHC):c.574C>T (p.Leu192=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 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 1110849	NM_015506.3(MMACHC):c.606T>C (p.Asp202=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 1094172	NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 553035	NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	LOC129930446, MMACHC (D150fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 813353	NM_015506.3(MMACHC):c.626dup (p.Thr210fs)	LOC129930446, MMACHC (T153fs +1 more)	Duplication (frameshift variant)	Cobalamin C disease	GPathogenic
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

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