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.177-9_178del	KMT2D	Pathogenic	12	49448536	49448546	CCACTGTGGACA	C	criteria provided, single submitter	ClinGen:CA275172
Deletion	NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs)	KMT2D	Pathogenic	12	49434177	49434178	GGA	G	criteria provided, single submitter	ClinGen:CA275201
single nucleotide variant	NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter)	KMT2D	Pathogenic	12	49433650	49433650	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275202
Deletion	NM_003482.4(KMT2D):c.11939del (p.Gln3980fs)	KMT2D	Pathogenic	12	49426549	49426549	CT	C	criteria provided, single submitter	ClinGen:CA275235
Deletion	NM_003482.4(KMT2D):c.12481del (p.Glu4161fs)	KMT2D	Pathogenic	12	49426007	49426007	TC	T	criteria provided, single submitter	ClinGen:CA275236
Duplication	NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs)	KMT2D	Pathogenic	12	49424442	49424443	G	GC	criteria provided, single submitter	ClinGen:CA275267
single nucleotide variant	NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys)	KMT2D	Pathogenic	12	49420214	49420214	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA245837
Duplication	NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs)	KMT2D	Pathogenic	12	49420863	49420864	C	CT	criteria provided, single submitter	ClinGen:CA275281
Deletion	NM_003482.4(KMT2D):c.15172del (p.Val5058fs)	KMT2D	Pathogenic	12	49420577	49420577	AC	A	criteria provided, single submitter	ClinGen:CA275282
single nucleotide variant	NM_003482.4(KMT2D):c.16412+1G>T	KMT2D	Pathogenic	12	49416062	49416062	C	A	criteria provided, single submitter	ClinGen:CA275317

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