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_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	MMUT	Pathogenic	6	49415412	49415412	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	MMUT	Pathogenic	6	49419224	49419224	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000255.4(MMUT):c.1022dup (p.Asn341fs)	MMUT	Pathogenic	6	49421358	49421359	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)	MMUT	Pathogenic/Likely pathogenic	6	49421398	49421398	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.654A>C (p.Gln218His)	MMUT	Pathogenic/Likely pathogenic	6	49425503	49425503	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_052845.4(MMAB):c.585-2A>C	MMAB	Pathogenic	12	109996962	109996962	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)	MMAB	Likely pathogenic	12	109998851	109998852	T	TCGGCC	criteria provided, single submitter	-
Deletion	NM_052845.4(MMAB):c.107del (p.Gly36fs)	MMAB	Likely pathogenic	12	110011179	110011179	GC	G	criteria provided, single submitter	-
Duplication	NM_052845.4(MMAB):c.578_584dup (p.Val196fs)	MMAB	Likely pathogenic	12	109998844	109998845	C	CCGTCTCT	criteria provided, single submitter	-
single nucleotide variant	NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	MMAB	Pathogenic/Likely pathogenic	12	109999290	109999290	C	A	criteria provided, multiple submitters, no conflicts	-