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.7352G>A (p.Cys2451Tyr)	VWF	Likely pathogenic	12	6085362	6085362	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter)	VWF	Pathogenic	12	6092317	6092317	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr)	VWF	Likely pathogenic	12	6103138	6103138	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg)	VWF	Likely pathogenic	12	6122796	6122796	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)	VWF	Pathogenic/Likely pathogenic	12	6127653	6127653	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000552.5(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer)	VWF	Likely pathogenic	12	6127933	6127935	GGGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.4637T>G (p.Val1546Gly)	VWF	Likely pathogenic	12	6127947	6127947	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu)	VWF	Likely pathogenic	12	6128479	6128479	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys)	VWF	Likely pathogenic	12	6128622	6128622	T	C	criteria provided, single submitter	-
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	-