"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MMACHC"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 67

	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 973438	NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)	MMACHC (E7K)	Single nucleotide variant (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 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 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 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 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	not specified +5 more	GPathogenic
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 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 1304703	NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)	MMACHC	Indel (inframe_indel)	Cobalamin C disease +1 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 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 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 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 757973	NM_015506.3(MMACHC):c.402T>C (p.Asp134=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 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 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 737924	NM_015506.3(MMACHC):c.462T>C (p.Phe154=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	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 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 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 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 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 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 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 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 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 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 705811	NM_015506.3(MMACHC):c.651A>G (p.Glu217=)	LOC129930446, MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
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 288244	NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)	MMACHC, LOC129930446 (A228V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 550634	NM_015506.3(MMACHC):c.701del (p.Leu234fs)	MMACHC (L234fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease	GUncertain significance
Select item 1624643	NM_015506.3(MMACHC):c.729T>C (p.Pro243=)	MMACHC	Single nucleotide variant (synonymous variant)	Cobalamin C disease	GLikely benign
Select item 1405306	NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)	MMACHC (P198S +1 more)	Single nucleotide variant (missense variant)	Cobalamin C disease +2 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 1122253	NM_015506.3(MMACHC):c.801G>A (p.Arg267=)	MMACHC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 1179112	GRCh37/hg19 1p34.1(chr1:45965972-45979054)	MMACHC, PRDX1	Copy number loss	Cobalamin C disease	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67