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.2372C>T (p.Thr791Met)	VWF	Pathogenic/Likely pathogenic	12	6153527	6153527	G	A	criteria provided, multiple submitters, no conflicts	OMIM:613160.0011,ClinGen:CA114135,UniProtKB:P04275#VAR_005786
single nucleotide variant	NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	VWF	Pathogenic/Likely pathogenic	12	6128668	6128668	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114123,UniProtKB:P04275#VAR_005794,OMIM:613160.0005
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
Deletion	NM_000552.5(VWF):c.221-10_532+52del	VWF	Pathogenic	12	6219488	6220144	GAAATAAAAAGCATGGCCACACTTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCTAAGTTCAGAAGTGGGCTTCTTGTGCATTTTCTGGATGTCTCTCCCACCTTCTAACCCCAACCCCATGTTGTAGGGTTCAGAACATGGTGCAAAGTGGCTGAGGACCTAGATCAGCAATCGGGAGAGCTGGCTCTCACCCAGCCCTGCTACTCACTTCCTTGGAACATTTGCTTCCATTCTCTGGGCCCCAGCTTCCTCATCTAAAAATGAGGGGGTTGTGTCAGGGGATCCCTAGGGTCCTTTCTAACTCAGACATTGTTGGCTTACCTTTGGTCCCCCTGTGTCACGGTACCATTGACAAACAAATGGATGTCAAAAAATTCCCCAAGATACACGGAGAGGCTCACTCTCTTGCCATTCTGGAAGTCCCCTGAAAGAGA	G	criteria provided, single submitter	-
Deletion	NM_000552.5(VWF):c.5621-47_5842+51del	VWF	Pathogenic	12	6120732	6121343	TAAAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCCCATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGATGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTGGACTAAGACCAAAGGAGGAAAAATTAACCAGTGGGAACAAGAGCCCCAAACACATCTCTAACCTTTCTTTCAAAGTCAACAGAAAGGAACTTACCCTCTTCTCATTCCCATCCTCATCCATGCAAATCCTAACAAATCCTGCAACAGACACAAATAAGACCTTAGTTCCCATCTTTCACCCAGAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.2921G>A (p.Trp974Ter)	VWF	Pathogenic	12	6138554	6138554	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter)	VWF	Pathogenic	12	6092317	6092317	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs)	VWF	Pathogenic	12	6085338	6085354	GGCATCCTCCATGTCGGT	G	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	-
Duplication	NM_000552.5(VWF):c.2435dup (p.Met814fs)	VWF	Pathogenic	12	6153463	6153464	C	CG	criteria provided, single submitter	-