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.4645G>A (p.Glu1549Lys)	VWF	Likely pathogenic	12	6127939	6127939	C	T	criteria provided, single submitter	ClinGen:CA228633
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.5321T>C (p.Leu1774Ser)	VWF	Likely pathogenic	12	6125389	6125389	A	G	criteria provided, single submitter	ClinGen:CA228710
single nucleotide variant	NM_000552.5(VWF):c.55G>A (p.Gly19Arg)	VWF	Likely pathogenic	12	6232308	6232308	C	T	criteria provided, single submitter	ClinGen:CA228729
single nucleotide variant	NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe)	VWF	Likely pathogenic	12	6103090	6103090	G	A	criteria provided, single submitter	ClinGen:CA228746
single nucleotide variant	NM_000552.5(VWF):c.6798+1G>T	VWF	Likely pathogenic	12	6100984	6100984	C	A	criteria provided, single submitter	ClinGen:CA228759
Insertion	NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)	VWF	Likely pathogenic	12	6078441	6078442	A	ACT	criteria provided, single submitter	ClinGen:CA228812
Deletion	NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del)	VWF	Likely pathogenic	12	6184564	6184587	TACTCCAGGAGGGCAGGGCAGGCGC	T	criteria provided, single submitter	ClinGen:CA228817
Deletion	NM_000552.5(VWF):c.3179del (p.Cys1060fs)	VWF	Likely pathogenic	12	6134789	6134789	AC	A	criteria provided, single submitter	ClinGen:CA6402821