海綿状血管腫 - MGenReviews

海綿状血管腫

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
Deletion	NM_194454.3(KRIT1):c.1237del (p.Glu413fs)	KRIT1	Likely pathogenic	7	91855051	91855051	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1147-13C>G	KRIT1	Pathogenic	7	91855154	91855154	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1146+1G>C	KRIT1	Likely pathogenic	7	91855839	91855839	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter)	KRIT1	Likely pathogenic	7	91855872	91855872	G	A	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.1031del (p.Gly344fs)	KRIT1	Pathogenic	7	91855955	91855955	TC	T	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.972del (p.Ile325fs)	KRIT1	Likely pathogenic	7	91863780	91863780	TG	T	criteria provided, single submitter	-
Insertion	NM_194454.3(KRIT1):c.947_948insAC (p.Leu317fs)	KRIT1	Likely pathogenic	7	91863804	91863805	C	CGT	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)	KRIT1	Pathogenic	7	91863872	91863872	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91863902	91863902	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.845+2T>A	KRIT1	Pathogenic/Likely pathogenic	7	91864120	91864120	A	T	criteria provided, multiple submitters, no conflicts	-

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