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.2447G>A (p.Arg816Gln)	VWF	Likely pathogenic	12	6145653	6145653	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228343
Deletion	NM_000552.5(VWF):c.2516del (p.Gly839fs)	VWF	Likely pathogenic	12	6145584	6145584	TC	T	criteria provided, single submitter	ClinGen:CA228347
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.2936G>A (p.Ser979Asn)	VWF	Likely pathogenic	12	6138539	6138539	C	T	criteria provided, single submitter	ClinGen:CA228372
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.3359G>C (p.Trp1120Ser)	VWF	Likely pathogenic	12	6132817	6132817	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA228396
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.3940G>T (p.Val1314Phe)	VWF	Likely pathogenic	12	6128644	6128644	C	A	criteria provided, single submitter	ClinGen:CA228498