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.16342C>T (p.Arg5448Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49416133	49416133	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384677189
Deletion	NM_003482.4(KMT2D):c.11422del (p.Ala3808fs)	KMT2D	Pathogenic/Likely pathogenic	12	49427066	49427066	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797911
Deletion	NM_003482.4(KMT2D):c.2533del (p.Arg845fs)	KMT2D	Pathogenic	12	49444933	49444933	CG	C	criteria provided, single submitter	ClinGen:CA658797903
Deletion	NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs)	KDM6A	Pathogenic	X	44929362	44929363	TCA	T	criteria provided, single submitter	ClinGen:CA658799730
single nucleotide variant	NM_001291415.2(KDM6A):c.2988+1G>A	KDM6A	Pathogenic	X	44936072	44936072	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412799350
single nucleotide variant	NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr)	KDM6A	Likely pathogenic	X	44945134	44945134	G	A	criteria provided, single submitter	ClinGen:CA412804999
single nucleotide variant	NM_001291415.2(KDM6A):c.4060C>T (p.Gln1354Ter)	KDM6A	Pathogenic	X	44966680	44966680	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.14382+1G>C	KMT2D	Likely pathogenic	12	49422610	49422610	C	G	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.16470del (p.Glu5491fs)	KMT2D	Likely pathogenic	12	49415877	49415877	CT	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.16437del (p.Asn5480fs)	KMT2D	Pathogenic	12	49415910	49415910	TA	T	criteria provided, single submitter	-

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