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.2T>G (p.Met1Arg)	MMACHC	Pathogenic/Likely pathogenic	1	45966006	45966006	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974654	45974655	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015506.3(MMACHC):c.565del (p.Arg189fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974602	45974602	AC	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974534	45974535	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	MMACHC	Pathogenic/Likely pathogenic	1	45973991	45973991	AC	A	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	-
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.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.82-1G>A	MMACHC	Pathogenic/Likely pathogenic	1	45973027	45973027	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)	MMUT	Pathogenic/Likely pathogenic	6	49419384	49419385	TGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683443