Related gene-specific medical variations for Gene (Select 27249) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256599	NM_015702.3(MMADHC):c.9+5G>A	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 3247251	NC_000002.11:g.(?_150426488)_(150426702_?)del	MMADHC	Deletion	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 3247250	NC_000002.11:g.(?_150426488)_(150443611_?)del	MMADHC	Deletion	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 3239729	NM_015702.3(MMADHC):c.268C>T (p.Gln90Ter)	MMADHC (Q90*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 3239728	NM_015702.3(MMADHC):c.157_191del (p.Ser53fs)	MMADHC (S53fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 3239727	NM_015702.3(MMADHC):c.369dup (p.Gln124fs)	MMADHC (Q124fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 3051528	NM_015702.3(MMADHC):c.-9C>T	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	MMADHC-related disorder	GLikely benign
Select item 2973506	NM_015702.3(MMADHC):c.9+19A>C	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2972703	NM_015702.3(MMADHC):c.9+17T>G	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2894529	NM_015702.3(MMADHC):c.9+12A>T	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2766577	NM_015702.3(MMADHC):c.9+16C>T	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2676641	NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)	MMADHC	Deletion (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676640	NM_015702.3(MMADHC):c.664del (p.Ala222fs)	MMADHC (A222fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676639	NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)	MMADHC (E247*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676638	NM_015702.3(MMADHC):c.563_566del (p.Val188fs)	MMADHC (V188fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676637	NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)	MMADHC	Deletion (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676636	NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)	MMADHC (L252*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676635	NM_015702.3(MMADHC):c.610-1G>A	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676634	NM_015702.3(MMADHC):c.479-2A>G	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676633	NM_015702.3(MMADHC):c.373-2A>G	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2445824	NM_015702.3(MMADHC):c.9+1G>A	LOC126806368, MMADHC	Single nucleotide variant (splice donor variant)	Cobalamin C disease +1 more	GLikely pathogenic
Select item 1650864	NM_015702.3(MMADHC):c.9+18T>G	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1598202	NM_015702.3(MMADHC):c.9+12A>C	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1320636	NM_015702.3(MMADHC):c.-52-79C>A	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247490	NM_015702.3(MMADHC):c.-52-150G>A	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242154	NM_015702.3(MMADHC):c.-52-26G>C	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216481	NM_015702.3(MMADHC):c.-53+256C>G	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 991190	NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)	MMADHC (M290R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 893755	NM_015702.3(MMADHC):c.-136G>C	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 814324	GRCh37/hg19 2q23.2-23.3(chr2:150366040-150696735)x3	MMADHC	Copy number gain	not provided	GLikely benign
Select item 809204	GRCh37/hg19 2q23.2(chr2:150438641-150438785)x0	MMADHC	Copy number loss	not provided	GLikely pathogenic
Select item 548476	NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)	MMADHC (K203E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 487521	NM_015702.3(MMADHC):c.24_25del (p.Arg8fs)	MMADHC (R8fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 385796	NM_015702.3(MMADHC):c.-55C>G	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 384901	NM_015702.3(MMADHC):c.9+14C>T	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 382393	NM_015702.3(MMADHC):c.9+17T>A	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 381837	NM_015702.3(MMADHC):c.-53+18C>T	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 378151	NM_015702.3(MMADHC):c.-8C>T	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblD +2 more	GConflicting classifications of pathogenicity
Select item 331390	NM_015702.3(MMADHC):c.-145A>G	MMADHC-DT, LOC126806368 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign/Likely benign
Select item 331389	NM_015702.3(MMADHC):c.-62G>A	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 331388	NM_015702.3(MMADHC):c.-60G>A	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GConflicting classifications of pathogenicity
Select item 331387	NM_015702.3(MMADHC):c.-52-3C>G	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 331386	NM_015702.3(MMADHC):c.-49T>C	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign
Select item 331385	NM_015702.3(MMADHC):c.-16A>G	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 44