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.2560C>T (p.Arg854Trp)	VWF	Likely pathogenic	12	6143979	6143979	G	A	criteria provided, single submitter	ClinGen:CA228351
single nucleotide variant	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF	Pathogenic/Likely pathogenic	12	6143978	6143978	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA114139,UniProtKB:P04275#VAR_005789,OMIM:613160.0013
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.2921G>A (p.Trp974Ter)	VWF	Pathogenic	12	6138554	6138554	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.2936G>A (p.Ser979Asn)	VWF	Likely pathogenic	12	6138539	6138539	C	T	criteria provided, single submitter	ClinGen:CA228372
Deletion	NM_000552.5(VWF):c.3179del (p.Cys1060fs)	VWF	Likely pathogenic	12	6134789	6134789	AC	A	criteria provided, single submitter	ClinGen:CA6402821
single nucleotide variant	NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr)	VWF	Pathogenic	12	6134789	6134789	C	T	criteria provided, single submitter	ClinGen:CA228380
single nucleotide variant	NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys)	VWF	Likely pathogenic	12	6132944	6132944	C	T	criteria provided, single submitter	ClinGen:CA228384
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.3359G>C (p.Trp1120Ser)	VWF	Likely pathogenic	12	6132817	6132817	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA228396