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.1A>G (p.Met1Val)	MMACHC	Pathogenic	1	45966005	45966005	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827593
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.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.3G>A (p.Met1Ile)	MMACHC	Pathogenic	1	45966007	45966007	G	A	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.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.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.82-1G>A	MMACHC	Pathogenic/Likely pathogenic	1	45973027	45973027	G	A	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	-
single nucleotide variant	NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	MMACHC	Pathogenic	1	45973163	45973163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312728