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.4517C>T (p.Ser1506Leu)	VWF	Pathogenic/Likely pathogenic	12	6128067	6128067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228615
Deletion	NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del)	VWF	Likely pathogenic	12	6127972	6127980	GTGACGTGGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA228620
single nucleotide variant	NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe)	VWF	Pathogenic	12	6127956	6127956	G	A	criteria provided, single submitter	ClinGen:CA228628
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.4645G>A (p.Glu1549Lys)	VWF	Likely pathogenic	12	6127939	6127939	C	T	criteria provided, single submitter	ClinGen:CA228633
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.4667A>G (p.Gln1556Arg)	VWF	Likely pathogenic	12	6127917	6127917	T	C	criteria provided, single submitter	ClinGen:CA228635
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.4789C>T (p.Arg1597Trp)	VWF	Pathogenic/Likely pathogenic	12	6127795	6127795	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114117,UniProtKB:P04275#VAR_005813,OMIM:613160.0002
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