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.575G>A (p.Gly192Asp)	MMAA	Pathogenic	4	146567150	146567150	G	A	criteria provided, single submitter	ClinGen:CA358355558
Duplication	NM_172250.3(MMAA):c.651dup (p.Gly218fs)	MMAA	Pathogenic	4	146567225	146567226	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509153
single nucleotide variant	NM_172250.3(MMAA):c.658G>A (p.Val220Met)	MMAA	Pathogenic/Likely pathogenic	4	146567233	146567233	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3095228
single nucleotide variant	NM_172250.3(MMAA):c.721A>T (p.Ile241Phe)	MMAA	Pathogenic	4	146567296	146567296	A	T	criteria provided, single submitter	ClinGen:CA358356365
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
single nucleotide variant	NM_172250.3(MMAA):c.820-1G>A	MMAA	Pathogenic	4	146575145	146575145	G	A	criteria provided, single submitter	ClinGen:CA358342233
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
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
Indel	NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)	MMAA	Pathogenic	4	146576525	146576526	GG	TT	criteria provided, single submitter	ClinGen:CA645509154
Duplication	NM_172250.3(MMAA):c.829dup (p.Arg277fs)	MMAA	Likely pathogenic	4	146575151	146575152	C	CA	criteria provided, single submitter	ClinGen:CA3095291