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
Deletion	NM_003482.4(KMT2D):c.11214del (p.Gln3738fs)	KMT2D	Pathogenic	12	49427274	49427274	GC	G	criteria provided, single submitter	ClinGen:CA479708892
Duplication	NM_003482.4(KMT2D):c.9265dup (p.Val3089fs)	KMT2D	Pathogenic	12	49431873	49431874	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA605233682
Indel	NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs)	KMT2D	Pathogenic	12	49431200	49431202	AAG	T	criteria provided, single submitter	ClinGen:CA658797912
Indel	NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs)	KMT2D	Pathogenic	12	49444841	49444842	AG	TTTTGGCCT	criteria provided, single submitter	ClinGen:CA658797902
single nucleotide variant	NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49421036	49421036	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384692093
single nucleotide variant	NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter)	KMT2D	Pathogenic	12	49433060	49433060	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384742778
Deletion	NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs)	KDM6A	Pathogenic	X	44941859	44941862	CAGAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799731
Duplication	NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs)	KMT2D	Pathogenic	12	49416374	49416375	T	TG	criteria provided, single submitter	ClinGen:CA658797904
Duplication	NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs)	KMT2D	Pathogenic	12	49424068	49424069	A	AGTGCCCTT	criteria provided, single submitter	ClinGen:CA658797906
Deletion	NM_003482.4(KMT2D):c.13411_13412del (p.Asn4471fs)	KMT2D	Pathogenic	12	49425076	49425077	ATT	A	criteria provided, single submitter	ClinGen:CA658797907

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