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_052845.4(MMAB):c.572G>A (p.Arg191Gln)	MMAB	Pathogenic	12	109998857	109998857	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347882
single nucleotide variant	NM_052845.4(MMAB):c.291-1G>A	MMAB	Pathogenic	12	110002982	110002982	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347875,OMIM:607568.0002
single nucleotide variant	NM_052845.4(MMAB):c.197-1G>T	MMAB	Pathogenic	12	110006669	110006669	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347865
single nucleotide variant	NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	MMUT	Pathogenic	6	49399494	49399494	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575855
Indel	NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)	MMUT	Pathogenic/Likely pathogenic	6	49399497	49399500	CGGC	TTCCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575856
Duplication	NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs)	MMUT	Pathogenic	6	49399497	49399498	C	CGGCA	criteria provided, single submitter	ClinGen:CA10575857
Deletion	NM_000255.4(MMUT):c.2078del (p.Gly693fs)	MMUT	Pathogenic	6	49403215	49403215	TC	T	criteria provided, single submitter	ClinGen:CA10575858
single nucleotide variant	NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)	MMUT	Pathogenic	6	49403318	49403318	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575859
single nucleotide variant	NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly)	MMUT	Pathogenic	6	49408001	49408001	T	C	criteria provided, single submitter	ClinGen:CA10575860,UniProtKB:P22033#VAR_077231
single nucleotide variant	NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro)	MMUT	Pathogenic	6	49408022	49408022	A	G	criteria provided, single submitter	ClinGen:CA10575861,UniProtKB:P22033#VAR_077230