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.1143del (p.Thr382fs)	KMT2D	Pathogenic/Likely pathogenic	12	49446462	49446462	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619544
Deletion	NM_003482.4(KMT2D):c.709del (p.Glu237fs)	KMT2D	Pathogenic	12	49447389	49447389	TC	T	criteria provided, single submitter	ClinGen:CA16619545
single nucleotide variant	NM_001291415.2(KDM6A):c.3835T>C (p.Trp1279Arg)	KDM6A	Likely pathogenic	X	44949118	44949118	T	C	criteria provided, single submitter	ClinGen:CA16621408
Deletion	NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs)	KDM6A	Pathogenic	X	44966753	44966756	GAACC	G	criteria provided, single submitter	ClinGen:CA16621409
single nucleotide variant	NM_003482.4(KMT2D):c.12466C>T (p.Gln4156Ter)	KMT2D	Pathogenic	12	49426022	49426022	G	A	criteria provided, single submitter	ClinGen:CA384711420
single nucleotide variant	NM_003482.4(KMT2D):c.49+2T>A	KMT2D	Likely pathogenic	12	49449057	49449057	A	T	criteria provided, single submitter	ClinGen:CA384691171
single nucleotide variant	NM_001291415.2(KDM6A):c.748+1G>A	KDM6A	Likely pathogenic	X	44911048	44911048	G	A	criteria provided, single submitter	ClinGen:CA412778803
Insertion	NM_003482.4(KMT2D):c.15920_15921insT (p.Leu5308fs)	KMT2D	Likely pathogenic	12	49418593	49418594	T	TA	criteria provided, single submitter	ClinGen:CA658683787
single nucleotide variant	NM_003482.4(KMT2D):c.14515+1G>T	KMT2D	Likely pathogenic	12	49421791	49421791	C	A	criteria provided, single submitter	ClinGen:CA384694833
Deletion	NM_003482.4(KMT2D):c.13207_13208del (p.Asn4403fs)	KMT2D	Pathogenic	12	49425280	49425281	ATT	A	criteria provided, single submitter	ClinGen:CA658683784

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