メチルマロン酸血症 - MGenReviews

メチルマロン酸血症

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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
single nucleotide variant	NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	MMUT	Pathogenic	6	49415462	49415462	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	MMUT	Pathogenic	6	49416553	49416553	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1083+1G>A	MMUT	Likely pathogenic	6	49421297	49421297	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	MMUT	Pathogenic/Likely pathogenic	6	49421411	49421411	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	MMUT	Pathogenic	6	49423854	49423854	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	MMUT	Pathogenic	6	49426819	49426820	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)	MMUT	Pathogenic/Likely pathogenic	6	49426923	49426923	G	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	-
Deletion	NM_000255.4(MMUT):c.1946del (p.Pro649fs)	MMUT	Pathogenic/Likely pathogenic	6	49407929	49407929	AG	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	-

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