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_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	MMACHC	Pathogenic	1	45974704	45974704	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA827827
single nucleotide variant	NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	MMACHC	Pathogenic	1	45973899	45973899	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA827696
single nucleotide variant	NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	MMACHC	Pathogenic	1	45966084	45966084	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.82-1G>A	MMACHC	Pathogenic/Likely pathogenic	1	45973027	45973027	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)	MMACHC	Pathogenic/Likely pathogenic	1	45973915	45973918	GCTGA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)	MMACHC	Pathogenic	1	45973922	45973922	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	MMACHC	Pathogenic/Likely pathogenic	1	45974509	45974509	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015506.3(MMACHC):c.500del (p.Pro167fs)	MMACHC	Pathogenic	1	45974537	45974537	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974542	45974554	GGATAGAGGTGCCA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	MMACHC	Pathogenic	1	45974604	45974605	G	GT	criteria provided, multiple submitters, no conflicts	-