"Baylor Genetics"[submitter] AND "MMADHC"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 761	NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)	MMADHC (L259P)	Single nucleotide variant (missense variant)	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 767	NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	MMADHC (R250*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 763	NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	MMADHC (Y249C)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely 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 839892	NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)	MMADHC (D246G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GConflicting classifications of pathogenicity
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 2507317	NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)	MMADHC (S228*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GPathogenic/Likely 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 1388511	NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)	MMADHC (W221*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic/Likely 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 2676637	NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)	MMADHC	Deletion (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 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 265247	NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)	MMADHC (R158*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1436154	NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)	MMADHC (R145*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 768	NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)	MMADHC (Y140*)	Duplication (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 1031933	NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)	MMADHC (S136G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
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 1470139	NM_015702.3(MMADHC):c.372+1G>A	MMADHC	Single nucleotide variant (splice donor 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 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 1963718	NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)	MMADHC (Q68*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
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 765	NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)	MMADHC (R54*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 648105	NM_015702.3(MMADHC):c.154+1G>A	MMADHC	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic/Likely pathogenic
Select item 1457271	NM_015702.3(MMADHC):c.128_129del (p.His43fs)	MMADHC (H43fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic/Likely pathogenic
Select item 764	NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)	MMADHC	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 856813	NM_015702.3(MMADHC):c.10-1G>C	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

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Items: 30