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.12469C>T (p.Gln4157Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49426019	49426019	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter)	KMT2D	Likely pathogenic	12	49426640	49426640	G	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.11739del (p.Gln3913fs)	KMT2D	Likely pathogenic	12	49426749	49426749	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.11710C>T (p.Gln3904Ter)	KMT2D	Likely pathogenic	12	49426778	49426778	G	A	criteria provided, single submitter	-
Deletion	NM_003482.4(KMT2D):c.11456del (p.Gly3819fs)	KMT2D	Likely pathogenic	12	49427032	49427032	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter)	KMT2D	Pathogenic/Likely pathogenic	12	49427489	49427489	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003482.4(KMT2D):c.10653dup (p.Ala3552fs)	KMT2D	Likely pathogenic	12	49427936	49427937	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.10440+2T>G	KMT2D	Likely pathogenic	12	49428363	49428363	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter)	KMT2D	Likely pathogenic	12	49428427	49428427	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_003482.4(KMT2D):c.10090C>T (p.Gln3364Ter)	KMT2D	Likely pathogenic	12	49431049	49431049	G	A	criteria provided, single submitter	-

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