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.5557C>T (p.Arg1853Ter)	VWF	Pathogenic	12	6122710	6122710	G	A	criteria provided, multiple submitters, no conflicts	OMIM:613160.0016,ClinGen:CA114143
single nucleotide variant	NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg)	VWF	Likely pathogenic	12	6122796	6122796	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)	VWF	Pathogenic	12	6125330	6125330	T	C	criteria provided, single submitter	ClinGen:CA228719
single nucleotide variant	NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)	VWF	Pathogenic	12	6125375	6125375	G	A	criteria provided, single submitter	ClinGen:CA228713
single nucleotide variant	NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser)	VWF	Likely pathogenic	12	6125389	6125389	A	G	criteria provided, single submitter	ClinGen:CA228710
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
single nucleotide variant	NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)	VWF	Pathogenic/Likely pathogenic	12	6127653	6127653	C	T	criteria provided, multiple submitters, no conflicts	-
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.4790G>A (p.Arg1597Gln)	VWF	Pathogenic	12	6127794	6127794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228657,UniProtKB:P04275#VAR_005812
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