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_172250.3(MMAA):c.970-2A>T	MMAA	Pathogenic	4	146576297	146576297	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)	MMAA	Likely pathogenic	4	146575278	146575278	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.875A>T (p.Asp292Val)	MMAA	Pathogenic	4	146575201	146575201	A	T	criteria provided, single submitter	ClinGen:CA358342794
single nucleotide variant	NM_172250.3(MMAA):c.860C>A (p.Ala287Asp)	MMAA	Pathogenic	4	146575186	146575186	C	A	criteria provided, single submitter	ClinGen:CA358342667
Duplication	NM_172250.3(MMAA):c.829dup (p.Arg277fs)	MMAA	Likely pathogenic	4	146575151	146575152	C	CA	criteria provided, single submitter	ClinGen:CA3095291
single nucleotide variant	NM_172250.3(MMAA):c.820-1G>A	MMAA	Pathogenic	4	146575145	146575145	G	A	criteria provided, single submitter	ClinGen:CA358342233
Duplication	NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)	MMAA	Likely pathogenic	4	146572290	146572291	T	TGA	criteria provided, single submitter	-
single nucleotide variant	NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	MMAA	Pathogenic	4	146572222	146572222	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3095257
single nucleotide variant	NM_172250.3(MMAA):c.733+1G>A	MMAA	Pathogenic/Likely pathogenic	4	146567309	146567309	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347856
single nucleotide variant	NM_172250.3(MMAA):c.728C>A (p.Thr243Asn)	MMAA	Pathogenic	4	146567303	146567303	C	A	criteria provided, single submitter	ClinGen:CA358356422