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.13518del (p.Ser4507fs)	KMT2D	Pathogenic	12	49424970	49424970	TG	T	criteria provided, single submitter	ClinGen:CA271592
single nucleotide variant	NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter)	KMT2D	Pathogenic	12	49425038	49425038	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271590
single nucleotide variant	NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter)	KMT2D	Pathogenic	12	49425526	49425526	G	T	criteria provided, single submitter	ClinGen:CA271585
Deletion	NM_003482.4(KMT2D):c.12896del (p.Gly4299fs)	KMT2D	Pathogenic/Likely pathogenic	12	49425592	49425592	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271583
single nucleotide variant	NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)	KMT2D	Pathogenic	12	49425896	49425896	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271579
Deletion	NM_003482.4(KMT2D):c.11386del (p.Gln3796fs)	KMT2D	Pathogenic	12	49427102	49427102	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271572
single nucleotide variant	NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49427198	49427198	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271570
single nucleotide variant	NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter)	KMT2D	Pathogenic	12	49427225	49427225	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271568
single nucleotide variant	NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49432396	49432396	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA271664
Deletion	NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs)	KMT2D	Pathogenic/Likely pathogenic	12	49433272	49433276	TGCTGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271661

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