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.4160G>T (p.Ser1387Ile)	VWF	Likely pathogenic	12	6128424	6128424	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.4006C>T (p.Arg1336Ter)	VWF	Pathogenic	12	6128578	6128578	G	A	criteria provided, single submitter	-
Duplication	NM_000552.5(VWF):c.2435dup (p.Met814fs)	VWF	Pathogenic	12	6153463	6153464	C	CG	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.1548T>A (p.Tyr516Ter)	VWF	Pathogenic	12	6167196	6167196	A	T	criteria provided, single submitter	-
Deletion	NM_000552.5(VWF):c.7863del (p.Thr2622fs)	VWF	Likely pathogenic	12	6076676	6076676	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys)	VWF	Likely pathogenic	12	6077331	6077331	G	A	criteria provided, single submitter	-
Deletion	NM_000552.5(VWF):c.7525del (p.Asp2509fs)	VWF	Likely pathogenic	12	6080788	6080788	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7450G>A (p.Val2484Ile)	VWF	Likely pathogenic	12	6080863	6080863	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter)	VWF	Likely pathogenic	12	6085315	6085315	G	A	criteria provided, single submitter	-
Deletion	NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs)	VWF	Pathogenic	12	6085338	6085354	GGCATCCTCCATGTCGGT	G	criteria provided, single submitter	-