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.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.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.4082T>C (p.Leu1361Ser)	VWF	Likely pathogenic	12	6128502	6128502	A	G	criteria provided, single submitter	ClinGen:CA228528
single nucleotide variant	NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn)	VWF	Likely pathogenic	12	6128337	6128337	A	T	criteria provided, single submitter	ClinGen:CA228569
single nucleotide variant	NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)	VWF	Likely pathogenic	12	6128311	6128311	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228573
single nucleotide variant	NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)	VWF	Likely pathogenic	12	6128275	6128275	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228575
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
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
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