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.7390C>T (p.Arg2464Cys)	VWF	Pathogenic/Likely pathogenic	12	6085324	6085324	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228786
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.7352G>A (p.Cys2451Tyr)	VWF	Likely pathogenic	12	6085362	6085362	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	-
single nucleotide variant	NM_000552.5(VWF):c.7056C>T (p.Gly2352=)	VWF	Likely pathogenic	12	6092341	6092341	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr)	VWF	Pathogenic	12	6094276	6094276	C	T	criteria provided, single submitter	ClinGen:CA228762
single nucleotide variant	NM_000552.5(VWF):c.6798+1G>T	VWF	Likely pathogenic	12	6100984	6100984	C	A	criteria provided, single submitter	ClinGen:CA228759
single nucleotide variant	NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe)	VWF	Likely pathogenic	12	6103090	6103090	G	A	criteria provided, single submitter	ClinGen:CA228746
single nucleotide variant	NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr)	VWF	Likely pathogenic	12	6103138	6103138	C	T	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	-