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
Deletion	NM_000552.5(VWF):c.7863del (p.Thr2622fs)	VWF	Likely pathogenic	12	6076676	6076676	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)	VWF	Likely pathogenic	12	6077331	6077331	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7730-1G>T	VWF	Likely pathogenic	12	6077334	6077334	C	A	criteria provided, single submitter	-
Insertion	NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)	VWF	Likely pathogenic	12	6078441	6078442	A	ACT	criteria provided, single submitter	ClinGen:CA228812
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
Deletion	NM_000552.5(VWF):c.7525del (p.Asp2509fs)	VWF	Likely pathogenic	12	6080788	6080788	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7464C>T (p.Gly2488=)	VWF	Likely pathogenic	12	6080849	6080849	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7450G>A (p.Val2484Ile)	VWF	Likely pathogenic	12	6080863	6080863	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)	VWF	Pathogenic/Likely pathogenic	12	6085306	6085306	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228790
single nucleotide variant	NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter)	VWF	Likely pathogenic	12	6085315	6085315	G	A	criteria provided, single submitter	-