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_015702.3(MMADHC):c.472C>T (p.Arg158Ter)	MMADHC	Pathogenic	2	150432957	150432957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588310
single nucleotide variant	NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	MMADHC	Pathogenic	2	150426631	150426631	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251599,OMIM:611935.0007
single nucleotide variant	NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)	MMADHC	Likely pathogenic	2	150426603	150426603	A	G	criteria provided, single submitter	ClinGen:CA114486,UniProtKB:Q9H3L0#VAR_043847,OMIM:611935.0001
Indel	NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)	MMAA	Pathogenic	4	146576525	146576526	GG	TT	criteria provided, single submitter	ClinGen:CA645509154
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.1084C>T (p.Gln362Ter)	MMAA	Likely pathogenic	4	146576413	146576413	C	T	criteria provided, single submitter	-
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.1075C>T (p.Arg359Ter)	MMAA	Pathogenic	4	146576404	146576404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA107683237
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.988C>T (p.Arg330Ter)	MMAA	Pathogenic	4	146576317	146576317	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA312708