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.4453del (p.Val1485fs)	VWF	Pathogenic	12	6128131	6128131	AC	A	criteria provided, single submitter	ClinGen:CA228598
single nucleotide variant	NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala)	VWF	Likely pathogenic	12	6128200	6128200	G	C	criteria provided, single submitter	ClinGen:CA228590
single nucleotide variant	NM_000552.5(VWF):c.4382C>T (p.Ala1461Val)	VWF	Pathogenic	12	6128202	6128202	G	A	criteria provided, single submitter	ClinGen:CA228588,UniProtKB:P04275#VAR_005807
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
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.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.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.4160G>T (p.Ser1387Ile)	VWF	Likely pathogenic	12	6128424	6128424	C	A	criteria provided, single submitter	-
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.4121G>A (p.Arg1374His)	VWF	Pathogenic	12	6128463	6128463	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228541,UniProtKB:P04275#VAR_005803