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
Duplication	NM_000552.5(VWF):c.50dup (p.Leu17fs)	VWF	Pathogenic/Likely pathogenic	12	6232312	6232313	C	CA	criteria provided, multiple submitters, no conflicts	-
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
Duplication	NM_000552.5(VWF):c.276dup (p.Asp93Ter)	VWF	Pathogenic	12	6220078	6220079	C	CA	criteria provided, single submitter	ClinGen:CA228364
Deletion	NM_000552.5(VWF):c.374_387del (p.Gly125fs)	VWF	Likely pathogenic	12	6219685	6219698	ACAGCTTGTAGTACC	A	criteria provided, single submitter	ClinGen:CA228439
single nucleotide variant	NM_000552.5(VWF):c.421G>A (p.Asp141Asn)	VWF	Pathogenic/Likely pathogenic	12	6219651	6219651	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228557
single nucleotide variant	NM_000552.5(VWF):c.449T>C (p.Leu150Pro)	VWF	Likely pathogenic	12	6219623	6219623	A	G	criteria provided, single submitter	ClinGen:CA228603
Deletion	NM_000552.5(VWF):c.221-6_532+30del	VWF	Likely pathogenic	12	6219510	6220140	TTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCTAAGTTCAGAAGTGGGCTTCTTGTGCATTTTCTGGATGTCTCTCCCACCTTCTAACCCCAACCCCATGTTGTAGGGTTCAGAACATGGTGCAAAGTGGCTGAGGACCTAGATCAGCAATCGGGAGAGCTGGCTCTCACCCAGCCCTGCTACTCACTTCCTTGGAACATTTGCTTCCATTCTCTGGGCCCCAGCTTCCTCATCTAAAAATGAGGGGGTTGTGTCAGGGGATCCCTAGGGTCCTTTCTAACTCAGACATTGTTGGCTTACCTTTGGTCCCCCTGTGTCACGGTACCATTGACAAACAAATGGATGTCAAAAAATTCCCCAAGATACACGGAGAGGCTCACTCTCTTGCCATTCTGGAAGTCCCCTGAAA	T	criteria provided, single submitter	-
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.533-48_657+52del	VWF	Likely pathogenic	12	6204574	6204798	TAGATCCAGAAATCACACACCATCCAGGTGCACCCAGGCCAGTCCACACCCACCTTCTGCATTTCCCCAGAGGAGATGTTGCATGAGCTGCTGGGAGGAGATGCCCGTTCACACCACTGTTCTCCACTGCTCAGAGCCCATGAGTTGGCAAAGTCATAAGGGTCCGAGGTCAAGGTCCCTGTGGAGGAAAGTTTCAGGAAAGTAATGCTTCAGTTATGCCTGTCCC	T	criteria provided, single submitter	-
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