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_052845.4(MMAB):c.572G>A (p.Arg191Gln)	MMAB	Pathogenic	12	109998857	109998857	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347882
single nucleotide variant	NM_052845.4(MMAB):c.349-1G>C	MMAB	Likely pathogenic	12	109999658	109999658	C	G	criteria provided, single submitter	ClinGen:CA278558,OMIM:607568.0007
single nucleotide variant	NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	MMAB	Pathogenic	12	109998858	109998858	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347810,UniProtKB:Q96EY8#VAR_017206,OMIM:607568.0006
single nucleotide variant	NM_052845.4(MMAB):c.569G>A (p.Arg190His)	MMAB	Pathogenic/Likely pathogenic	12	109998860	109998860	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312716
Duplication	NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	MMAB	Pathogenic/Likely pathogenic	12	109998851	109998852	T	TCGGCCCGGCGGCACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA312722
single nucleotide variant	NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)	MMAB	Pathogenic	12	109994886	109994886	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312718
single nucleotide variant	NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	MMAB	Pathogenic/Likely pathogenic	12	109998861	109998861	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223862
single nucleotide variant	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	MMAB	Pathogenic/Likely pathogenic	12	109998873	109998873	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312714,UniProtKB:Q96EY8#VAR_017205,OMIM:607568.0001
single nucleotide variant	NM_000255.4(MMUT):c.2125-3C>G	MMUT	Pathogenic	6	49399572	49399572	G	C	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_49456070)_(49456247_?)del	MMUT	Pathogenic	6	49423783	49423960	na	na	criteria provided, single submitter	-