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
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.619dup (p.Asp207fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974654	45974655	C	CG	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)	MMACHC	Likely pathogenic	1	45966076	45966076	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	MMACHC	Likely pathogenic	1	45966006	45966006	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.81+2T>G	MMACHC	Pathogenic/Likely pathogenic	1	45966087	45966087	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	MMACHC	Pathogenic/Likely pathogenic	1	45973036	45973036	G	A	criteria provided, multiple submitters, no conflicts	-
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.391C>T (p.Gln131Ter)	MMACHC	Likely pathogenic	1	45973998	45973998	C	T	criteria provided, single submitter	-
Deletion	NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	MMACHC	Pathogenic/Likely pathogenic	1	45974005	45974006	CAA	C	criteria provided, multiple submitters, no conflicts	-