歌舞伎症候群 - MGenReviews

歌舞伎症候群

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_003482.4(KMT2D):c.7426G>T (p.Glu2476Ter)	KMT2D	Likely pathogenic	12	49434127	49434127	C	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.7282del (p.Arg2428fs)	KMT2D	Likely pathogenic	12	49434271	49434271	CG	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.6992del (p.Leu2331fs)	KMT2D	Pathogenic/Likely pathogenic	12	49434561	49434561	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003482.4(KMT2D):c.6966dup (p.Thr2323fs)	KMT2D	Likely pathogenic	12	49434586	49434587	T	TC	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.6955dup (p.Leu2319fs)	KMT2D	Likely pathogenic	12	49434597	49434598	A	AG	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.6844del (p.Arg2282fs)	KMT2D	Likely pathogenic	12	49434709	49434709	CG	C	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.6594dup (p.Tyr2199fs)	KMT2D	Likely pathogenic	12	49434958	49434959	A	AG	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)	KMT2D	Pathogenic/Likely pathogenic	12	49436873	49436876	CCTGT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.5597del (p.Pro1866fs)	KMT2D	Likely pathogenic	12	49436906	49436906	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49437418	49437418	C	A	criteria provided, multiple submitters, no conflicts	-

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