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.2139del (p.Lys713fs)	KRIT1	Likely pathogenic	7	91830624	91830624	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)	KRIT1	Pathogenic	7	91830671	91830671	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_194454.3(KRIT1):c.2083dup (p.Thr695fs)	KRIT1	Likely pathogenic	7	91830679	91830680	G	GT	criteria provided, single submitter	-
Deletion	NM_194454.3(KRIT1):c.2043del (p.Lys682fs)	KRIT1	Likely pathogenic	7	91830720	91830720	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.2026-12A>G	KRIT1	Pathogenic	7	91830749	91830749	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.2025+2T>C	KRIT1	Likely pathogenic	7	91842507	91842507	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)	KRIT1	Likely pathogenic	7	91842607	91842607	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_194454.3(KRIT1):c.1897_1903del (p.Pro633fs)	KRIT1	Likely pathogenic	7	91842631	91842637	TAAGTAGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter)	KRIT1	Pathogenic	7	91843209	91843209	G	C	criteria provided, single submitter	-
Duplication	NM_194454.3(KRIT1):c.1754dup (p.Pro586fs)	KRIT1	Likely pathogenic	7	91843269	91843270	T	TA	criteria provided, single submitter	-

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