メチルマロン酸血症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000255.4(MMUT):c.754-2A>G	MMUT	Pathogenic/Likely pathogenic	6	49423952	49423952	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)	MMUT	Pathogenic/Likely pathogenic	6	49421467	49421467	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter)	MMUT	Pathogenic/Likely pathogenic	6	49409584	49409584	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	MMAA	Pathogenic/Likely pathogenic	4	146560699	146560702	CAAAT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	MMAA	Pathogenic/Likely pathogenic	4	146560415	146560415	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	MMACHC	Pathogenic/Likely pathogenic	1	45974603	45974603	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974005	45974006	CAA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	MMACHC	Pathogenic/Likely pathogenic	1	45973891	45973892	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	MMACHC	Pathogenic/Likely pathogenic	1	45973036	45973036	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.81+2T>G	MMACHC	Pathogenic/Likely pathogenic	1	45966087	45966087	T	G	criteria provided, multiple submitters, no conflicts	-