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.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.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.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.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.3940G>T (p.Val1314Phe)	VWF	Likely pathogenic	12	6128644	6128644	C	A	criteria provided, single submitter	ClinGen:CA228498
single nucleotide variant	NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)	VWF	Pathogenic/Likely pathogenic	12	6128641	6128641	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228502
single nucleotide variant	NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu)	VWF	Likely pathogenic	12	6128574	6128574	G	A	criteria provided, single submitter	ClinGen:CA228510
single nucleotide variant	NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)	VWF	Pathogenic/Likely pathogenic	12	6128563	6128563	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228514
single nucleotide variant	NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro)	VWF	Likely pathogenic	12	6128562	6128562	C	G	criteria provided, single submitter	ClinGen:CA228516
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