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	-
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.385+5G>A	MMUT	Pathogenic/Likely pathogenic	6	49426790	49426790	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	MMUT	Pathogenic/Likely pathogenic	6	49408029	49408029	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)	MMUT	Pathogenic/Likely pathogenic	6	49419397	49419419	ATTGCAGTACGGACAATATTATTG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter)	MMUT	Pathogenic/Likely pathogenic	6	49416622	49416622	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1880A>G (p.His627Arg)	MMUT	Pathogenic/Likely pathogenic	6	49407995	49407995	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)	MMUT	Pathogenic/Likely pathogenic	6	49407951	49407951	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.385+2T>C	MMUT	Pathogenic/Likely pathogenic	6	49426793	49426793	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	MMUT	Pathogenic/Likely pathogenic	6	49425487	49425487	C	A	criteria provided, multiple submitters, no conflicts	-