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.1777G>T (p.Glu593Ter)	MMUT	Pathogenic/Likely pathogenic	6	49409584	49409584	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1677-1G>A	MMUT	Pathogenic	6	49409685	49409685	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000255.4(MMUT):c.1332+1del	MMUT	Pathogenic	6	49419178	49419178	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)	MMUT	Pathogenic/Likely pathogenic	6	49421467	49421467	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.754-2A>G	MMUT	Pathogenic/Likely pathogenic	6	49423952	49423952	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	MMUT	Pathogenic/Likely pathogenic	6	49425487	49425487	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.385+2T>C	MMUT	Pathogenic/Likely pathogenic	6	49426793	49426793	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter)	MMUT	Likely pathogenic	6	49399563	49399563	C	A	criteria provided, single submitter	-
Deletion	NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer)	MMUT	Likely pathogenic	6	49403187	49403187	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)	MMUT	Pathogenic/Likely pathogenic	6	49407951	49407951	C	G	criteria provided, multiple submitters, no conflicts	-

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