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_000255.4(MMUT):c.1025C>A (p.Ser342Ter)	MMUT	Pathogenic	6	49421356	49421356	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3846982
single nucleotide variant	NM_000255.4(MMUT):c.1083+2T>A	MMUT	Pathogenic	6	49421296	49421296	A	T	criteria provided, single submitter	ClinGen:CA3846974
single nucleotide variant	NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	MMUT	Pathogenic	6	49416574	49416574	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3846893
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
single nucleotide variant	NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)	MMUT	Likely pathogenic	6	49419304	49419304	G	C	criteria provided, single submitter	ClinGen:CA3846942
single nucleotide variant	NM_000255.4(MMUT):c.806C>T (p.Ala269Val)	MMUT	Likely pathogenic	6	49423898	49423898	G	A	criteria provided, single submitter	ClinGen:CA3847033
single nucleotide variant	NM_000255.4(MMUT):c.394C>T (p.Gln132Ter)	MMUT	Pathogenic	6	49425763	49425763	G	A	criteria provided, single submitter	ClinGen:CA364404817
single nucleotide variant	NM_000255.4(MMUT):c.1084-1G>C	MMUT	Likely pathogenic	6	49419428	49419428	C	G	criteria provided, single submitter	ClinGen:CA364399219
Deletion	NC_000012.12:g.(?_109561020)_(109565196_?)del	MMAB	Likely pathogenic	12	109998825	110003001	na	na	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	-