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.283C>T (p.Gln95Ter)	MMAA	Pathogenic	4	146560574	146560574	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340040,OMIM:607481.0003
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
single nucleotide variant	NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	MMACHC	Pathogenic	1	45974647	45974647	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA259906,OMIM:609831.0006
single nucleotide variant	NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	HCFC1	Pathogenic	X	153229734	153229734	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144900,OMIM:300019.0003
single nucleotide variant	NM_000255.4(MMUT):c.1445-2A>G	MMUT	Pathogenic/Likely pathogenic	6	49415500	49415500	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220547
single nucleotide variant	NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	MMUT	Pathogenic	6	49427089	49427089	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA249743
single nucleotide variant	NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	MMACHC	Pathogenic	1	45974519	45974519	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA223189
single nucleotide variant	NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	MMACHC	Pathogenic	1	45974646	45974646	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223195
Deletion	NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	MMACHC	Pathogenic	1	45974694	45974696	CAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA223197,OMIM:609831.0007
single nucleotide variant	NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	MMAB	Pathogenic/Likely pathogenic	12	109998861	109998861	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223862