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

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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_015702.3(MMADHC):c.154+1G>A	MMADHC	Pathogenic/Likely pathogenic	2	150438640	150438640	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)	MMUT	Pathogenic/Likely pathogenic	6	49421434	49421434	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.753+1G>A	MMUT	Pathogenic/Likely pathogenic	6	49425403	49425403	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)	MMUT	Pathogenic/Likely pathogenic	6	49407986	49407986	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB	Pathogenic/Likely pathogenic	12	110011274	110011274	G	T	criteria provided, multiple submitters, no conflicts	-
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	-
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	-
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	-

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