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.3314C>A (p.Ala1105Asp)	VWF	Likely pathogenic	12	6132862	6132862	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.2921G>A (p.Trp974Ter)	VWF	Pathogenic	12	6138554	6138554	C	T	criteria provided, single submitter	-
Insertion	NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs)	VWF	Likely pathogenic	12	6143889	6143890	G	GCAAA	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.1974C>G (p.Tyr658Ter)	VWF	Likely pathogenic	12	6161921	6161921	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.1607T>C (p.Leu536Pro)	VWF	Likely pathogenic	12	6167137	6167137	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000552.5(VWF):c.1339del (p.Arg447fs)	VWF	Likely pathogenic	12	6173505	6173505	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000552.5(VWF):c.993C>A (p.Cys331Ter)	VWF	Likely pathogenic	12	6182789	6182789	G	T	criteria provided, single submitter	-
Duplication	NM_000552.5(VWF):c.50dup (p.Leu17fs)	VWF	Pathogenic/Likely pathogenic	12	6232312	6232313	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000552.5(VWF):c.7730-1G>T	VWF	Likely pathogenic	12	6077334	6077334	C	A	criteria provided, single submitter	-