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.4717G>A (p.Gly1573Ser)	VWF	Likely pathogenic	12	6127867	6127867	C	T	criteria provided, single submitter	ClinGen:CA228643
single nucleotide variant	NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln)	VWF	Pathogenic	12	6127794	6127794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228657,UniProtKB:P04275#VAR_005812
single nucleotide variant	NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser)	VWF	Likely pathogenic	12	6125389	6125389	A	G	criteria provided, single submitter	ClinGen:CA228710
single nucleotide variant	NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)	VWF	Pathogenic	12	6125375	6125375	G	A	criteria provided, single submitter	ClinGen:CA228713
single nucleotide variant	NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu)	VWF	Pathogenic	12	6125330	6125330	T	C	criteria provided, single submitter	ClinGen:CA228719
single nucleotide variant	NM_000552.5(VWF):c.55G>A (p.Gly19Arg)	VWF	Likely pathogenic	12	6232308	6232308	C	T	criteria provided, single submitter	ClinGen:CA228729
single nucleotide variant	NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe)	VWF	Likely pathogenic	12	6103090	6103090	G	A	criteria provided, single submitter	ClinGen:CA228746
single nucleotide variant	NM_000552.5(VWF):c.6798+1G>T	VWF	Likely pathogenic	12	6100984	6100984	C	A	criteria provided, single submitter	ClinGen:CA228759
single nucleotide variant	NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr)	VWF	Pathogenic	12	6094276	6094276	C	T	criteria provided, single submitter	ClinGen:CA228762
single nucleotide variant	NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	VWF	Pathogenic/Likely pathogenic	12	6085324	6085324	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228786