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.1621A>T (p.Thr541Ser)	F8	Pathogenic	X	154185363	154185363	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.2043G>C (p.Met681Ile)	F8	Pathogenic	X	154176043	154176043	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5918A>T (p.His1973Leu)	F8	Pathogenic	X	154132261	154132261	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6082G>A (p.Gly2028Arg)	F8	Pathogenic	X	154130359	154130359	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6104T>C (p.Val2035Ala)	F8	Pathogenic	X	154130337	154130337	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.6434T>G (p.Phe2145Cys)	F8	Pathogenic	X	154091498	154091498	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6685C>T (p.Leu2229Phe)	F8	Pathogenic	X	154090031	154090031	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6686T>C (p.Leu2229Pro)	F8	Pathogenic	X	154090030	154090030	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000133.4(F9):c.1009G>A (p.Ala337Thr)	F9	Pathogenic	X	138643853	138643853	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.407T>C (p.Ile136Thr)	F9	Pathogenic	X	138630537	138630537	T	C	criteria provided, single submitter	-