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
Duplication	NM_003482.4(KMT2D):c.4812dup (p.Met1605fs)	KMT2D	Pathogenic	12	49438677	49438678	T	TG	criteria provided, single submitter	ClinGen:CA658658146
Deletion	NM_003482.4(KMT2D):c.1345_1346del (p.Leu449fs)	KMT2D	Pathogenic	12	49446120	49446121	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658152
single nucleotide variant	NM_003482.4(KMT2D):c.840-2A>G	KMT2D	Likely pathogenic	12	49447106	49447106	T	C	criteria provided, single submitter	ClinGen:CA384680417
single nucleotide variant	NM_003482.4(KMT2D):c.12985C>T (p.Gln4329Ter)	KMT2D	Pathogenic	12	49425503	49425503	G	A	criteria provided, single submitter	ClinGen:CA384708141
Deletion	NM_003482.4(KMT2D):c.9703_9704del (p.Lys3235fs)	KMT2D	Pathogenic	12	49431435	49431436	CTT	C	criteria provided, single submitter	ClinGen:CA658656290
Deletion	NM_003482.4(KMT2D):c.6264del (p.Lys2089fs)	KMT2D	Pathogenic	12	49435289	49435289	TG	T	criteria provided, single submitter	ClinGen:CA658658145
single nucleotide variant	NM_003482.4(KMT2D):c.15921+1G>A	KMT2D	Likely pathogenic	12	49418592	49418592	C	T	criteria provided, single submitter	ClinGen:CA384682340
Duplication	NM_003482.4(KMT2D):c.6673dup (p.Glu2225fs)	KMT2D	Pathogenic	12	49434879	49434880	T	TC	criteria provided, single submitter	ClinGen:CA658658144
single nucleotide variant	NM_003482.4(KMT2D):c.4204C>T (p.Gln1402Ter)	KMT2D	Pathogenic	12	49441780	49441780	G	A	criteria provided, single submitter	ClinGen:CA384649283
single nucleotide variant	NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln)	KMT2D	Pathogenic	12	49418361	49418361	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384681045

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