フォンウィルブランド病 - MGenReviews

フォンウィルブランド病

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_000552.5(VWF):c.4517C>T (p.Ser1506Leu)	VWF	Pathogenic/Likely pathogenic	12	6128067	6128067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228615
single nucleotide variant	NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	VWF	Pathogenic/Likely pathogenic	12	6085324	6085324	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228786
single nucleotide variant	NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)	VWF	Pathogenic/Likely pathogenic	12	6085306	6085306	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228790
single nucleotide variant	NM_000552.5(VWF):c.970C>T (p.Arg324Ter)	VWF	Pathogenic/Likely pathogenic	12	6182812	6182812	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228862
single nucleotide variant	NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)	VWF	Pathogenic/Likely pathogenic	12	6128337	6128337	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA383503536
single nucleotide variant	NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)	VWF	Pathogenic/Likely pathogenic	12	6127653	6127653	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	VWF	Pathogenic/Likely pathogenic	12	6132054	6132054	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000552.5(VWF):c.50dup (p.Leu17fs)	VWF	Pathogenic/Likely pathogenic	12	6232312	6232313	C	CA	criteria provided, multiple submitters, no conflicts	-

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