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.1974C>G (p.Tyr658Ter)	VWF	Likely pathogenic	12	6161921	6161921	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr)	VWF	Likely pathogenic	12	6161835	6161835	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.2303G>A (p.Arg768Gln)	VWF	Likely pathogenic	12	6153596	6153596	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.2372C>T (p.Thr791Met)	VWF	Pathogenic/Likely pathogenic	12	6153527	6153527	G	A	criteria provided, multiple submitters, no conflicts	OMIM:613160.0011,ClinGen:CA114135,UniProtKB:P04275#VAR_005786
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
Duplication	NM_000552.5(VWF):c.2435dup (p.Met814fs)	VWF	Pathogenic	12	6153463	6153464	C	CG	criteria provided, single submitter	-
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.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
single nucleotide variant	NM_000552.5(VWF):c.2447G>A (p.Arg816Gln)	VWF	Likely pathogenic	12	6145653	6145653	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228343
Deletion	NM_000552.5(VWF):c.2516del (p.Gly839fs)	VWF	Likely pathogenic	12	6145584	6145584	TC	T	criteria provided, single submitter	ClinGen:CA228347