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.2020C>G (p.Leu674Val)	MMUT	Likely pathogenic	6	49403273	49403273	G	C	criteria provided, single submitter	ClinGen:CA364394527
single nucleotide variant	NM_000255.4(MMUT):c.1142G>T (p.Gly381Val)	MMUT	Likely pathogenic	6	49419369	49419369	C	A	criteria provided, single submitter	ClinGen:CA364399032
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.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.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.391C>T (p.Gln131Ter)	MMACHC	Likely pathogenic	1	45973998	45973998	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)	MMACHC	Likely pathogenic	1	45974034	45974034	C	T	criteria provided, single submitter	-