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.1739del (p.Asn580fs)	KRIT1	Likely pathogenic	7	91843285	91843285	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1731-3C>A	KRIT1	Likely pathogenic	7	91843296	91843296	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1730+5G>A	KRIT1	Pathogenic	7	91843920	91843920	C	T	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.1710del (p.Lys570fs)	KRIT1	Pathogenic	7	91843945	91843945	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.1666del (p.Ser556fs)	KRIT1	Likely pathogenic	7	91843989	91843989	CT	C	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1657dup (p.Thr553fs)	KRIT1	Pathogenic	7	91843997	91843998	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1616T>A (p.Leu539Ter)	KRIT1	Likely pathogenic	7	91844039	91844039	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1563+1G>A	KRIT1	Pathogenic	7	91851215	91851215	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)	KRIT1	Pathogenic	7	91851266	91851266	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_194454.3(KRIT1):c.1477G>T (p.Glu493Ter)	KRIT1	Likely pathogenic	7	91851302	91851302	C	A	criteria provided, single submitter	-

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