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_172250.3(MMAA):c.562+1G>A	MMAA	Likely pathogenic	4	146563638	146563638	G	A	criteria provided, single submitter	ClinGen:CA358780
Duplication	NM_172250.3(MMAA):c.551dup (p.Cys184fs)	MMAA	Pathogenic	4	146563625	146563626	T	TG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_172250.3(MMAA):c.503del (p.Thr168fs)	MMAA	Pathogenic	4	146563578	146563578	AC	A	criteria provided, single submitter	ClinGen:CA347897
Deletion	NM_172250.3(MMAA):c.489del (p.Phe163fs)	MMAA	Pathogenic	4	146563561	146563561	AT	A	criteria provided, single submitter	ClinGen:CA658657402
Deletion	NM_172250.3(MMAA):c.455del (p.Pro152fs)	MMAA	Pathogenic	4	146563526	146563526	GC	G	criteria provided, single submitter	ClinGen:CA441476414
Duplication	NM_172250.3(MMAA):c.450dup (p.Pro151fs)	MMAA	Pathogenic	4	146563522	146563523	T	TG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_172250.3(MMAA):c.441dup (p.Leu148fs)	MMAA	Pathogenic	4	146563515	146563516	G	GA	criteria provided, single submitter	ClinGen:CA645509151
single nucleotide variant	NM_172250.3(MMAA):c.439+1G>A	MMAA	Likely pathogenic	4	146560731	146560731	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA	Pathogenic/Likely pathogenic	4	146560724	146560724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312705,OMIM:607481.0005
Deletion	NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	MMAA	Pathogenic/Likely pathogenic	4	146560699	146560702	CAAAT	C	criteria provided, multiple submitters, no conflicts	-