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

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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.50-1G>T	KMT2D	Likely pathogenic	12	49448810	49448810	C	A	criteria provided, single submitter	-
Deletion	NM_001291415.2(KDM6A):c.62del (p.Glu21fs)	KDM6A	Likely pathogenic	X	44732859	44732859	GA	G	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.8626del (p.Gln2876fs)	KMT2D	Pathogenic	12	49432513	49432513	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter)	KDM6A	Likely pathogenic	X	44950000	44950000	G	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.15902_15903del (p.Val5301fs)	KMT2D	Pathogenic	12	49418611	49418612	GCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)	KMT2D	Pathogenic/Likely pathogenic	12	49418394	49418394	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.13361del (p.Pro4454fs)	KMT2D	Pathogenic	12	49425127	49425127	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly)	KMT2D	Likely pathogenic	12	49428198	49428198	A	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.3704del (p.Gly1235fs)	KMT2D	Pathogenic	12	49443667	49443667	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003482.4(KMT2D):c.49+1del	KMT2D	Likely pathogenic	12	49449058	49449058	AC	A	criteria provided, single submitter	-

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