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.253-1G>C	F9	Pathogenic	X	138619520	138619520	G	C	criteria provided, single submitter	-
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.1256T>G (p.Val419Gly)	F9	Likely pathogenic	X	138644100	138644100	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.1289G>A (p.Ser430Asn)	F9	Likely pathogenic	X	138644133	138644133	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6967C>G (p.Arg2323Gly)	F8	Likely pathogenic	X	154065961	154065961	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6320G>A (p.Gly2107Asp)	F8	Likely pathogenic	X	154124461	154124461	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6278A>T (p.Asp2093Val)	F8	Likely pathogenic	X	154124503	154124503	T	A	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.5960_5964del (p.Lys1987fs)	F8	Pathogenic	X	154132215	154132219	CCTCTT	C	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.5954del (p.Arg1985fs)	F8	Pathogenic	X	154132225	154132225	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)	F8	Pathogenic/Likely pathogenic	X	154132225	154132225	C	T	criteria provided, multiple submitters, no conflicts	-