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.454G>T (p.Glu152Ter)	MMAB	Pathogenic/Likely pathogenic	12	109999290	109999290	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_052845.4(MMAB):c.578_584dup (p.Val196fs)	MMAB	Likely pathogenic	12	109998844	109998845	C	CCGTCTCT	criteria provided, single submitter	-
Deletion	NM_052845.4(MMAB):c.107del (p.Gly36fs)	MMAB	Likely pathogenic	12	110011179	110011179	GC	G	criteria provided, single submitter	-
Duplication	NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)	MMAB	Likely pathogenic	12	109998851	109998852	T	TCGGCC	criteria provided, single submitter	-
single nucleotide variant	NM_052845.4(MMAB):c.585-2A>C	MMAB	Pathogenic	12	109996962	109996962	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000012.12:g.(?_109561020)_(109565196_?)del	MMAB	Likely pathogenic	12	109998825	110003001	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_052845.4(MMAB):c.568C>G (p.Arg190Gly)	MMAB	Pathogenic	12	109998861	109998861	G	C	criteria provided, single submitter	ClinGen:CA10603291
single nucleotide variant	NM_052845.4(MMAB):c.2T>C (p.Met1Thr)	MMAB	Pathogenic	12	110011284	110011284	A	G	criteria provided, single submitter	ClinGen:CA358800
single nucleotide variant	NM_052845.4(MMAB):c.197-1G>T	MMAB	Pathogenic	12	110006669	110006669	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347865
single nucleotide variant	NM_052845.4(MMAB):c.291-1G>A	MMAB	Pathogenic	12	110002982	110002982	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347875,OMIM:607568.0002