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.6278A>T (p.Asp2093Val)	F8	Likely pathogenic	X	154124503	154124503	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5939A>G (p.His1980Arg)	F8	Likely pathogenic	X	154132240	154132240	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5417C>T (p.Ser1806Phe)	F8	Likely pathogenic	X	154133255	154133255	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.2161A>C (p.Met721Leu)	F8	Likely pathogenic	X	154159904	154159904	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1952A>C (p.His651Pro)	F8	Likely pathogenic	X	154176134	154176134	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.877C>G (p.His293Asp)	F8	Likely pathogenic	X	154197738	154197738	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.757G>A (p.Gly253Arg)	F9	Likely pathogenic	X	138642933	138642933	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.802T>A (p.Cys268Ser)	F9	Likely pathogenic	X	138642978	138642978	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.845A>G (p.His282Arg)	F9	Likely pathogenic	X	138643689	138643689	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.1067G>T (p.Trp356Leu)	F9	Likely pathogenic	X	138643911	138643911	G	T	criteria provided, single submitter	-