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.1104G>A (p.Trp368Ter)	MMAA	Likely pathogenic	4	146576433	146576433	G	A	criteria provided, single submitter	ClinGen:CA358346012
single nucleotide variant	NM_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser)	HCFC1	Likely pathogenic	X	153216827	153216827	G	A	criteria provided, single submitter	ClinGen:CA415104008
Deletion	NM_015506.3(MMACHC):c.352del (p.Gln118fs)	MMACHC	Pathogenic	1	45973957	45973957	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA827711
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
Deletion	NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)	MMAA	Pathogenic	4	146560585	146560599	GGGCCTGTTTAGCAGA	G	criteria provided, single submitter	ClinGen:CA3095149
Duplication	NM_172250.3(MMAA):c.441dup (p.Leu148fs)	MMAA	Pathogenic	4	146563515	146563516	G	GA	criteria provided, single submitter	ClinGen:CA645509151
Deletion	NM_172250.3(MMAA):c.455del (p.Pro152fs)	MMAA	Pathogenic	4	146563526	146563526	GC	G	criteria provided, single submitter	ClinGen:CA441476414