メチルマロン酸血症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_000255.4(MMUT):c.1885dup (p.Arg629fs)	MMUT	Pathogenic	6	49407989	49407990	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe)	MMUT	Likely pathogenic	6	49403273	49403273	G	A	criteria provided, single submitter	-
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_000255.4(MMUT):c.983T>C (p.Leu328Pro)	MMUT	Pathogenic/Likely pathogenic	6	49421398	49421398	A	G	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.1287C>G (p.Tyr429Ter)	MMUT	Pathogenic	6	49419224	49419224	G	C	criteria provided, multiple submitters, no conflicts	-
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.1677-1G>C	MMUT	Pathogenic/Likely pathogenic	6	49409685	49409685	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.1946del (p.Pro649fs)	MMUT	Pathogenic/Likely pathogenic	6	49407929	49407929	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer)	MMUT	Pathogenic	6	49403330	49403331	CGA	C	criteria provided, single submitter	-