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.700C>T (p.Gln234Ter)	MMAB	Pathogenic	12	109994886	109994886	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312718
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.569G>A (p.Arg190His)	MMAB	Pathogenic/Likely pathogenic	12	109998860	109998860	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312716
single nucleotide variant	NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg)	HCFC1	Pathogenic	X	153215838	153215838	C	T	criteria provided, single submitter	ClinGen:CA204692
Deletion	NM_000255.4(MMUT):c.1891del (p.Ala631fs)	MMUT	Pathogenic	6	49407984	49407984	GC	G	criteria provided, single submitter	ClinVar:424788,ClinGen:CA351288
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.349-1G>C	MMAB	Likely pathogenic	12	109999658	109999658	C	G	criteria provided, single submitter	ClinGen:CA278558,OMIM:607568.0007
Duplication	NM_015702.3(MMADHC):c.455dup (p.Cys153fs)	MMADHC	Pathogenic	2	150432973	150432974	T	TG	criteria provided, single submitter	ClinGen:CA347878
Insertion	NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)	MMADHC	Pathogenic	2	150438734	150438735	A	AAT	criteria provided, single submitter	ClinGen:CA347852
single nucleotide variant	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	MMAA	Pathogenic	4	146560355	146560355	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347868