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.16338+1G>T	KMT2D	Likely pathogenic	12	49416372	49416372	C	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.16125del (p.Tyr5376fs)	KMT2D	Likely pathogenic	12	49416586	49416586	AG	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.15731_15732del (p.Lys5244fs)	KMT2D	Likely pathogenic	12	49420017	49420018	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys)	KMT2D	Pathogenic	12	49420109	49420109	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.15583C>T (p.Gln5195Ter)	KMT2D	Likely pathogenic	12	49420166	49420166	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter)	KMT2D	Likely pathogenic	12	49420463	49420463	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter)	KMT2D	Pathogenic	12	49420871	49420871	G	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_003482.4(KMT2D):c.14833delinsAA (p.Pro4945fs)	KMT2D	Likely pathogenic	12	49420916	49420916	G	TT	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.14722del (p.Ala4908fs)	KMT2D	Likely pathogenic	12	49421027	49421027	GC	G	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.14669_14672del (p.Thr4890fs)	KMT2D	Likely pathogenic	12	49421077	49421080	CTGAG	C	criteria provided, single submitter	-

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