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.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_172250.3(MMAA):c.562+1G>A	MMAA	Likely pathogenic	4	146563638	146563638	G	A	criteria provided, single submitter	ClinGen:CA358780
single nucleotide variant	NM_172250.3(MMAA):c.1104G>A (p.Trp368Ter)	MMAA	Likely pathogenic	4	146576433	146576433	G	A	criteria provided, single submitter	ClinGen:CA358346012
single nucleotide variant	NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	MMAA	Pathogenic	4	146560363	146560363	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358351092
single nucleotide variant	NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)	MMAA	Pathogenic	4	146560493	146560493	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA107720165
Deletion	NM_172250.3(MMAA):c.267_268del (p.Thr91fs)	MMAA	Pathogenic	4	146560557	146560558	CTT	C	criteria provided, single submitter	ClinGen:CA645509149
Deletion	NM_172250.3(MMAA):c.290_296del (p.Gln97fs)	MMAA	Pathogenic	4	146560575	146560581	CAAGGGCA	C	criteria provided, single submitter	ClinGen:CA645509150