中鎖アシルCoA脱水素酵素欠損症 - MGenReviews

中鎖アシルCoA脱水素酵素欠損症

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
Deletion	NM_000016.6(ACADM):c.165del (p.Phe55fs)	ACADM	Pathogenic/Likely pathogenic	1	76198373	76198373	AT	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)	ACADM	Pathogenic	1	76215189	76215198	GTGACGGAGC	TTTAA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.950A>T (p.Gln317Leu)	ACADM	Likely pathogenic	1	76226811	76226811	A	T	criteria provided, single submitter	-
Deletion	NM_000016.6(ACADM):c.927del (p.Phe309fs)	ACADM	Pathogenic	1	76216213	76216213	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.454G>T (p.Glu152Ter)	ACADM	Likely pathogenic	1	76200542	76200542	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	ACADM	Pathogenic	1	76194122	76194122	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.217-1G>A	ACADM	Pathogenic	1	76198537	76198537	G	A	criteria provided, single submitter	-

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