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.4384C>G (p.Pro1462Ala)	VWF	Likely pathogenic	12	6128200	6128200	G	C	criteria provided, single submitter	ClinGen:CA228590
Deletion	NM_000552.5(VWF):c.4453del (p.Val1485fs)	VWF	Pathogenic	12	6128131	6128131	AC	A	criteria provided, single submitter	ClinGen:CA228598
single nucleotide variant	NM_000552.5(VWF):c.449T>C (p.Leu150Pro)	VWF	Likely pathogenic	12	6219623	6219623	A	G	criteria provided, single submitter	ClinGen:CA228603
single nucleotide variant	NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln)	VWF	Likely pathogenic	12	6128076	6128076	A	T	criteria provided, single submitter	ClinGen:CA228605
single nucleotide variant	NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)	VWF	Pathogenic/Likely pathogenic	12	6128067	6128067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228615
Deletion	NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del)	VWF	Likely pathogenic	12	6127972	6127980	GTGACGTGGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA228620
single nucleotide variant	NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe)	VWF	Pathogenic	12	6127956	6127956	G	A	criteria provided, single submitter	ClinGen:CA228628
single nucleotide variant	NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys)	VWF	Likely pathogenic	12	6127939	6127939	C	T	criteria provided, single submitter	ClinGen:CA228633
single nucleotide variant	NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg)	VWF	Likely pathogenic	12	6127917	6127917	T	C	criteria provided, single submitter	ClinGen:CA228635