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.3467C>T (p.Thr1156Met)	VWF	Pathogenic/Likely pathogenic	12	6131977	6131977	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228414
single nucleotide variant	NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg)	VWF	Pathogenic/Likely pathogenic	12	6131906	6131906	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228421
single nucleotide variant	NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg)	VWF	Pathogenic/Likely pathogenic	12	6131172	6131172	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA228423
single nucleotide variant	NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu)	VWF	Likely pathogenic	12	6131126	6131126	C	A	criteria provided, single submitter	ClinGen:CA228427
Deletion	NM_000552.5(VWF):c.374_387del (p.Gly125fs)	VWF	Likely pathogenic	12	6219685	6219698	ACAGCTTGTAGTACC	A	criteria provided, single submitter	ClinGen:CA228439
Duplication	NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs)	VWF	Likely pathogenic	12	6128738	6128739	C	CAGCAGGA	criteria provided, single submitter	ClinGen:CA228463
single nucleotide variant	NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro)	VWF	Pathogenic	12	6128731	6128731	A	G	criteria provided, single submitter	ClinGen:CA228466
single nucleotide variant	NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg)	VWF	Pathogenic/Likely pathogenic	12	6128721	6128721	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA228470
single nucleotide variant	NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu)	VWF	Pathogenic	12	6128707	6128707	A	G	criteria provided, single submitter	ClinGen:CA228472
single nucleotide variant	NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln)	VWF	Pathogenic	12	6128667	6128667	C	T	criteria provided, single submitter	ClinGen:CA228482