フォンウィルブランド病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.4105T>A (p.Phe1369Ile)	VWF	Pathogenic/Likely pathogenic	12	6128479	6128479	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228533
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.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.3863T>G (p.Leu1288Arg)	VWF	Pathogenic/Likely pathogenic	12	6128721	6128721	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228470
single nucleotide variant	NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)	VWF	Pathogenic/Likely pathogenic	12	6131172	6131172	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA228423
single nucleotide variant	NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg)	VWF	Pathogenic/Likely pathogenic	12	6131906	6131906	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228421
single nucleotide variant	NM_000552.5(VWF):c.3467C>T (p.Thr1156Met)	VWF	Pathogenic/Likely pathogenic	12	6131977	6131977	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228414
single nucleotide variant	NM_000552.5(VWF):c.2443-1G>C	VWF	Pathogenic/Likely pathogenic	12	6145658	6145658	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA228342
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
single nucleotide variant	NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	VWF	Pathogenic/Likely pathogenic	12	6145654	6145654	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114137,UniProtKB:P04275#VAR_005787,OMIM:613160.0012