血友病A/B - MGenReviews

血友病A/B

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_000133.4(F9):c.161A>T (p.Glu54Val)	F9	Likely pathogenic	X	138619241	138619241	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.253-1G>C	F9	Pathogenic	X	138619520	138619520	G	C	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_139530759)_(139562076_?)del	F9	Pathogenic	X	138612918	138644235	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.1115T>C (p.Leu372Pro)	F9	Likely pathogenic	X	138643959	138643959	T	C	criteria provided, single submitter	ClinGen:CA414445997
single nucleotide variant	NM_000133.4(F9):c.148G>A (p.Gly50Ser)	F9	Pathogenic	X	138619228	138619228	G	A	criteria provided, single submitter	ClinGen:CA414435668
single nucleotide variant	NM_000133.4(F9):c.280G>A (p.Gly94Arg)	F9	Likely pathogenic	X	138623237	138623237	G	A	criteria provided, single submitter	ClinGen:CA414437361
single nucleotide variant	NM_000133.4(F9):c.835G>A (p.Ala279Thr)	F9	Pathogenic/Likely pathogenic	X	138643011	138643011	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277507,UniProtKB:P00740#VAR_006579
single nucleotide variant	NM_000133.4(F9):c.1144T>A (p.Cys382Ser)	F9	Likely pathogenic	X	138643988	138643988	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.278-3A>G	F9	Pathogenic	X	138623232	138623232	A	G	criteria provided, single submitter	ClinGen:CA285284,OMIM:300746.0113
single nucleotide variant	NM_000133.4(F9):c.82T>C (p.Cys28Arg)	F9	Pathogenic	X	138613005	138613005	T	C	criteria provided, single submitter	ClinGen:CA255450,UniProtKB:P00740#VAR_006522,OMIM:300746.0100