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.4082T>C (p.Leu1361Ser)	VWF	Likely pathogenic	12	6128502	6128502	A	G	criteria provided, single submitter	ClinGen:CA228528
single nucleotide variant	NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)	VWF	Pathogenic/Likely pathogenic	12	6128479	6128479	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228533
single nucleotide variant	NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)	VWF	Pathogenic	12	6128464	6128464	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228539,UniProtKB:P04275#VAR_005802
single nucleotide variant	NM_000552.5(VWF):c.4121G>A (p.Arg1374His)	VWF	Pathogenic	12	6128463	6128463	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228541,UniProtKB:P04275#VAR_005803
single nucleotide variant	NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu)	VWF	Pathogenic/Likely pathogenic	12	6128463	6128463	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228543
single nucleotide variant	NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)	VWF	Pathogenic	12	6128449	6128449	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228547
single nucleotide variant	NM_000552.5(VWF):c.421G>A (p.Asp141Asn)	VWF	Pathogenic/Likely pathogenic	12	6219651	6219651	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228557
single nucleotide variant	NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn)	VWF	Likely pathogenic	12	6128337	6128337	A	T	criteria provided, single submitter	ClinGen:CA228569
single nucleotide variant	NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)	VWF	Likely pathogenic	12	6128311	6128311	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228573
single nucleotide variant	NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)	VWF	Likely pathogenic	12	6128275	6128275	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228575