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.427C>T (p.Gln143Ter)	MMACHC	Likely pathogenic	1	45974034	45974034	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	MMACHC	Pathogenic	1	45974495	45974495	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	MMACHC	Pathogenic/Likely pathogenic	1	45974603	45974603	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)	MMACHC	Likely pathogenic	1	45974578	45974585	ATGACTGTG	A	criteria provided, single submitter	-
Deletion	NM_015506.3(MMACHC):c.574del (p.Leu192fs)	MMACHC	Likely pathogenic	1	45974610	45974610	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.1A>G (p.Met1Val)	MMAA	Likely pathogenic	4	146560292	146560292	A	G	criteria provided, single submitter	-
Deletion	NM_172250.3(MMAA):c.15_16del (p.Pro6fs)	MMAA	Likely pathogenic	4	146560306	146560307	TAC	T	criteria provided, single submitter	-
Duplication	NM_172250.3(MMAA):c.450dup (p.Pro151fs)	MMAA	Pathogenic	4	146563522	146563523	T	TG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_172250.3(MMAA):c.594dup (p.Glu199Ter)	MMAA	Likely pathogenic	4	146567168	146567169	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.439+1G>A	MMAA	Likely pathogenic	4	146560731	146560731	G	A	criteria provided, single submitter	-