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.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.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.653G>A (p.Gly218Glu)	MMAA	Likely pathogenic	4	146567228	146567228	G	A	criteria provided, single submitter	ClinGen:CA347896,UniProtKB:Q8IVH4#VAR_020837
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.650T>A (p.Leu217Ter)	MMAA	Pathogenic/Likely pathogenic	4	146567225	146567225	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347870
Duplication	NM_172250.3(MMAA):c.594dup (p.Glu199Ter)	MMAA	Likely pathogenic	4	146567168	146567169	C	CT	criteria provided, single submitter	-
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.586C>T (p.Arg196Ter)	MMAA	Pathogenic	4	146567161	146567161	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA107725374
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
single nucleotide variant	NM_172250.3(MMAA):c.562+1G>T	MMAA	Likely pathogenic	4	146563638	146563638	G	T	criteria provided, single submitter	-