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.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.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
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.4075G>A (p.Glu1359Lys)	VWF	Pathogenic	12	6128509	6128509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228524
single nucleotide variant	NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)	VWF	Pathogenic	12	6128653	6128653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228496
single nucleotide variant	NM_000552.5(VWF):c.3925A>G (p.Ile1309Val)	VWF	Pathogenic	12	6128659	6128659	T	C	criteria provided, single submitter	ClinGen:CA228492
single nucleotide variant	NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro)	VWF	Pathogenic	12	6128664	6128664	A	G	criteria provided, single submitter	ClinGen:CA228486
single nucleotide variant	NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu)	VWF	Pathogenic	12	6128667	6128667	C	A	criteria provided, single submitter	ClinGen:CA228484
single nucleotide variant	NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln)	VWF	Pathogenic	12	6128667	6128667	C	T	criteria provided, single submitter	ClinGen:CA228482