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
single nucleotide variant	NM_000016.6(ACADM):c.1195-1G>C	ACADM	Likely pathogenic	1	76228376	76228376	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)	ACADM	Pathogenic/Likely pathogenic	1	76215238	76215238	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.1194+1G>A	ACADM	Pathogenic	1	76227056	76227056	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	ACADM	Pathogenic/Likely pathogenic	1	76190475	76190475	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.30+2T>C	ACADM	Pathogenic/Likely pathogenic	1	76190504	76190504	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000016.6(ACADM):c.286+2T>G	ACADM	Likely pathogenic	1	76198609	76198609	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000016.6(ACADM):c.709-2A>C	ACADM	Pathogenic/Likely pathogenic	1	76215102	76215102	A	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs)	ACADM	Likely pathogenic	1	76215221	76215223	GCT	CC	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_75541435)_(76074884_?)del	ACADM	Pathogenic	1	76007120	76540569	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_75761102)_(75762783_?)del	ACADM	Pathogenic	1	76226787	76228468	na	na	criteria provided, single submitter	-

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