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
single nucleotide variant	NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	VWF	Pathogenic	12	6127701	6127701	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA114115,UniProtKB:P04275#VAR_005817,OMIM:613160.0001
single nucleotide variant	NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)	VWF	Pathogenic/Likely pathogenic	12	6127795	6127795	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114117,UniProtKB:P04275#VAR_005813,OMIM:613160.0002
single nucleotide variant	NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	VWF	Pathogenic/Likely pathogenic	12	6128668	6128668	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114123,UniProtKB:P04275#VAR_005794,OMIM:613160.0005
single nucleotide variant	NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)	VWF	Pathogenic	12	6128662	6128662	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114125,UniProtKB:P04275#VAR_005795,OMIM:613160.0006
single nucleotide variant	NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	VWF	Pathogenic	12	6128638	6128638	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114127,UniProtKB:P04275#VAR_005798,OMIM:613160.0007
single nucleotide variant	NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)	VWF	Pathogenic	12	6128562	6128562	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114129,UniProtKB:P04275#VAR_005801,OMIM:613160.0008
single nucleotide variant	NM_000552.5(VWF):c.2372C>T (p.Thr791Met)	VWF	Pathogenic/Likely pathogenic	12	6153527	6153527	G	A	criteria provided, multiple submitters, no conflicts	OMIM:613160.0011,ClinGen:CA114135,UniProtKB:P04275#VAR_005786
single nucleotide variant	NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	VWF	Pathogenic/Likely pathogenic	12	6145654	6145654	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114137,UniProtKB:P04275#VAR_005787,OMIM:613160.0012
single nucleotide variant	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF	Pathogenic/Likely pathogenic	12	6143978	6143978	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114139,UniProtKB:P04275#VAR_005789,OMIM:613160.0013
single nucleotide variant	NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)	VWF	Pathogenic	12	6127609	6127609	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114141,OMIM:613160.0015