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.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
single nucleotide variant	NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	MMAA	Pathogenic/Likely pathogenic	4	146567225	146567225	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347870
single nucleotide variant	NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	MMAA	Likely pathogenic	4	146567228	146567228	G	A	criteria provided, single submitter	ClinGen:CA347896,UniProtKB:Q8IVH4#VAR_020837
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.1076G>A (p.Arg359Gln)	MMAA	Pathogenic	4	146576405	146576405	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347905,UniProtKB:Q8IVH4#VAR_020838
single nucleotide variant	NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	MMUT	Pathogenic	6	49399515	49399515	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347913