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.1093C>T (p.Arg365Ter)	VWF	Pathogenic	12	6181513	6181513	G	A	criteria provided, single submitter	ClinGen:CA228257
single nucleotide variant	NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)	VWF	Pathogenic	12	6132007	6132007	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228408,OMIM:613160.0039
single nucleotide variant	NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg)	VWF	Pathogenic	12	6131999	6131999	A	G	criteria provided, single submitter	OMIM:613160.0028,ClinGen:CA228410,UniProtKB:P04275#VAR_064925
single nucleotide variant	NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	VWF	Pathogenic	12	6131126	6131126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114160,OMIM:613160.0027
Deletion	NM_000552.5(VWF):c.2435del (p.Pro812fs)	VWF	Pathogenic	12	6153464	6153464	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA114153,OMIM:613160.0021
single nucleotide variant	NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg)	VWF	Pathogenic	12	6128770	6128770	A	G	criteria provided, single submitter	ClinGen:CA114149,UniProtKB:P04275#VAR_005793,OMIM:613160.0019
single nucleotide variant	NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)	VWF	Pathogenic	12	6078503	6078503	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114145,OMIM:613160.0017
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.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.2561G>A (p.Arg854Gln)	VWF	Pathogenic/Likely pathogenic	12	6143978	6143978	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114139,UniProtKB:P04275#VAR_005789,OMIM:613160.0013