フォンウィルブランド病

小児・神経疾患

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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_000552.5(VWF):c.3179del (p.Cys1060fs)	VWF	Likely pathogenic	12	6134789	6134789	AC	A	criteria provided, single submitter	ClinGen:CA6402821
single nucleotide variant	NM_000552.5(VWF):c.4496T>A (p.Val1499Glu)	VWF	Pathogenic	12	6128088	6128088	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA383501687
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.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.817C>T (p.Arg273Trp)	VWF	Pathogenic	12	6184558	6184558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228829,UniProtKB:P04275#VAR_010242
Deletion	NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del)	VWF	Likely pathogenic	12	6184564	6184587	TACTCCAGGAGGGCAGGGCAGGCGC	T	criteria provided, single submitter	ClinGen:CA228817
Insertion	NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)	VWF	Likely pathogenic	12	6078441	6078442	A	ACT	criteria provided, single submitter	ClinGen:CA228812
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.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.6911G>A (p.Cys2304Tyr)	VWF	Pathogenic	12	6094276	6094276	C	T	criteria provided, single submitter	ClinGen:CA228762