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.257C>T (p.Pro86Leu)	MMUT	Pathogenic/Likely pathogenic	6	49426923	49426923	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	MMUT	Pathogenic	6	49426819	49426820	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	MMUT	Pathogenic	6	49423854	49423854	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	MMUT	Pathogenic/Likely pathogenic	6	49421411	49421411	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1083+1G>A	MMUT	Likely pathogenic	6	49421297	49421297	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	MMUT	Pathogenic	6	49416553	49416553	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	MMUT	Pathogenic	6	49415462	49415462	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	MMUT	Pathogenic	6	49409620	49409620	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000255.4(MMUT):c.29dup (p.Leu10fs)	MMUT	Pathogenic	6	49427150	49427151	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.385+5G>A	MMUT	Pathogenic/Likely pathogenic	6	49426790	49426790	C	T	criteria provided, multiple submitters, no conflicts	-