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_000132.4(F8):c.1569G>T (p.Leu523=)	F8	Pathogenic	X	154185415	154185415	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10568430
single nucleotide variant	NM_000132.4(F8):c.1350C>A (p.Tyr450Ter)	F8	Pathogenic	X	154194338	154194338	G	T	criteria provided, single submitter	ClinGen:CA414914845
Deletion	NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer)	F8	Pathogenic	X	154225366	154225366	GC	G	criteria provided, single submitter	ClinGen:CA645509239
single nucleotide variant	NM_000132.4(F8):c.4473C>A (p.Tyr1491Ter)	F8	Pathogenic	X	154157592	154157592	G	T	criteria provided, single submitter	ClinGen:CA414918004
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.148G>A (p.Gly50Ser)	F9	Pathogenic	X	138619228	138619228	G	A	criteria provided, single submitter	ClinGen:CA414435668
Deletion	NM_000132.4(F8):c.2113+461_2113+473del	F8	Pathogenic	X	154175500	154175512	GAAAAAAAAAAAAA	G	criteria provided, single submitter	ClinGen:CA658799940,OMIM:300841.0271
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_000132.4(F8):c.7031G>A (p.Gly2344Asp)	F8	Likely pathogenic	X	154065897	154065897	C	T	criteria provided, single submitter	ClinGen:CA414896689
Deletion	NC_000023.11:g.(?_139530759)_(139562076_?)del	F9	Pathogenic	X	138612918	138644235	na	na	criteria provided, single submitter	-