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.817C>T (p.Arg273Trp)	VWF	Pathogenic	12	6184558	6184558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228829,UniProtKB:P04275#VAR_010242
single nucleotide variant	NM_000552.5(VWF):c.970C>T (p.Arg324Ter)	VWF	Pathogenic/Likely pathogenic	12	6182812	6182812	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228862
single nucleotide variant	NM_000552.5(VWF):c.993C>A (p.Cys331Ter)	VWF	Likely pathogenic	12	6182789	6182789	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.1093C>T (p.Arg365Ter)	VWF	Pathogenic	12	6181513	6181513	G	A	criteria provided, single submitter	ClinGen:CA228257
single nucleotide variant	NM_000552.5(VWF):c.1117C>T (p.Arg373Ter)	VWF	Pathogenic	12	6180502	6180502	G	A	criteria provided, single submitter	ClinGen:CA228261
single nucleotide variant	NM_000552.5(VWF):c.1293+2T>C	VWF	Likely pathogenic	12	6174301	6174301	A	G	criteria provided, single submitter	-
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.1533+1G>T	VWF	Pathogenic	12	6172119	6172119	C	A	criteria provided, single submitter	ClinGen:CA383500336
single nucleotide variant	NM_000552.5(VWF):c.1548T>A (p.Tyr516Ter)	VWF	Pathogenic	12	6167196	6167196	A	T	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	-