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
Duplication	NM_194454.3(KRIT1):c.1470dup (p.Leu491fs)	KRIT1	Likely pathogenic	7	91851308	91851309	G	GT	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1421_1422dup (p.Lys475fs)	KRIT1	Likely pathogenic	7	91851356	91851357	T	TGA	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1412-2A>C	KRIT1	Pathogenic	7	91851369	91851369	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_194454.3(KRIT1):c.1406dup (p.Asn469fs)	KRIT1	Likely pathogenic	7	91852140	91852141	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)	KRIT1	Pathogenic	7	91852156	91852156	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)	KRIT1	Pathogenic/Likely pathogenic	7	91852175	91852175	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.1355_1359del (p.Arg452fs)	KRIT1	Likely pathogenic	7	91852188	91852192	AGAGAC	A	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1358dup (p.Ser454fs)	KRIT1	Likely pathogenic	7	91852188	91852189	G	GA	criteria provided, single submitter	-
Indel	NM_194454.3(KRIT1):c.1263_1267delinsTGTA (p.Lys421fs)	KRIT1	Likely pathogenic	7	91852280	91852284	GAACT	TACA	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1255-1G>A	KRIT1	Pathogenic	7	91852293	91852293	C	T	criteria provided, multiple submitters, no conflicts	-

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