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.3379+1G>A	VWF	Pathogenic	12	6132796	6132796	C	T	criteria provided, single submitter	ClinGen:CA228398
single nucleotide variant	NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	VWF	Pathogenic/Likely pathogenic	12	6132054	6132054	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000552.5(VWF):c.3430T>G (p.Trp1144Gly)	VWF	Pathogenic	12	6132014	6132014	A	C	criteria provided, single submitter	ClinGen:CA228406
single nucleotide variant	NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)	VWF	Pathogenic	12	6132007	6132007	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228408,OMIM:613160.0039
single nucleotide variant	NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg)	VWF	Pathogenic	12	6131999	6131999	A	G	criteria provided, single submitter	OMIM:613160.0028,ClinGen:CA228410,UniProtKB:P04275#VAR_064925
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.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.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.3614G>T (p.Arg1205Leu)	VWF	Likely pathogenic	12	6131126	6131126	C	A	criteria provided, single submitter	ClinGen:CA228427
single nucleotide variant	NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	VWF	Pathogenic	12	6131126	6131126	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114160,OMIM:613160.0027