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.276G>T (p.Glu92Asp)	MMACHC	Pathogenic	1	45973222	45973222	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA272838,OMIM:609831.0008
single nucleotide variant	NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	MMACHC	Likely pathogenic	1	45973222	45973222	G	A	criteria provided, single submitter	ClinGen:CA272840,OMIM:609831.0009
Duplication	NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	MMACHC	Pathogenic/Likely pathogenic	1	45973891	45973892	C	CA	criteria provided, multiple submitters, no conflicts	-
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
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	-
Deletion	NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	MMACHC	Pathogenic	1	45973933	45973936	CCCAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA312742
single nucleotide variant	NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	MMACHC	Pathogenic	1	45973938	45973938	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251789,OMIM:609831.0004
single nucleotide variant	NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	MMACHC	Pathogenic/Likely pathogenic	1	45973954	45973954	T	C	criteria provided, multiple submitters, no conflicts	OMIM:609831.0002,ClinGen:CA251786,UniProtKB:Q9Y4U1#VAR_024771
Deletion	NM_015506.3(MMACHC):c.352del (p.Gln118fs)	MMACHC	Pathogenic	1	45973957	45973957	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827711