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
Deletion	NM_172250.3(MMAA):c.1034del (p.Phe345fs)	MMAA	Pathogenic	4	146576361	146576361	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224212
single nucleotide variant	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA	Pathogenic	4	146560678	146560678	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312703
Deletion	NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	MMAA	Pathogenic	4	146567165	146567168	ATGAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA312707,OMIM:607481.0001
single nucleotide variant	NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	MMAA	Pathogenic	4	146576317	146576317	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312708
single nucleotide variant	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	MMAA	Pathogenic	4	146560355	146560355	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347868
single nucleotide variant	NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	MMAA	Likely pathogenic	4	146560452	146560452	G	A	criteria provided, single submitter	ClinGen:CA347884
single nucleotide variant	NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	MMAA	Likely pathogenic	4	146560557	146560557	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347910,UniProtKB:Q8IVH4#VAR_020835
single nucleotide variant	NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)	MMAA	Pathogenic	4	146560649	146560649	C	T	criteria provided, single submitter	ClinGen:CA347888
single nucleotide variant	NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)	MMAA	Pathogenic	4	146560688	146560688	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347908
Deletion	NM_172250.3(MMAA):c.503del (p.Thr168fs)	MMAA	Pathogenic	4	146563578	146563578	AC	A	criteria provided, single submitter	ClinGen:CA347897