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.14515+1G>A	KMT2D	Likely pathogenic	12	49421791	49421791	C	T	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.14469del (p.Ala4824fs)	KMT2D	Likely pathogenic	12	49421838	49421838	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49422906	49422906	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.14000-3C>G	KMT2D	Likely pathogenic	12	49423262	49423262	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.13367C>G (p.Ser4456Ter)	KMT2D	Likely pathogenic	12	49425121	49425121	G	C	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.13346del (p.Leu4449fs)	KMT2D	Likely pathogenic	12	49425142	49425142	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.13213C>T (p.Gln4405Ter)	KMT2D	Likely pathogenic	12	49425275	49425275	G	A	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.13026_13027dup (p.Thr4343fs)	KMT2D	Likely pathogenic	12	49425460	49425461	G	GTC	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter)	KMT2D	Likely pathogenic	12	49425680	49425680	G	A	criteria provided, single submitter	-
Duplication	NM_003482.4(KMT2D):c.12546dup (p.Gln4183fs)	KMT2D	Likely pathogenic	12	49425941	49425942	G	GC	criteria provided, single submitter	-

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