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.88G>C (p.Val30Leu)	F9	Pathogenic	X	138613011	138613011	G	C	criteria provided, single submitter	-
Deletion	NM_000133.4(F9):c.276del (p.Asp93fs)	F9	Pathogenic	X	138619543	138619543	GT	G	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	-
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.1009G>A (p.Ala337Thr)	F9	Pathogenic	X	138643853	138643853	G	A	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	-
single nucleotide variant	NM_000133.4(F9):c.1106T>C (p.Leu369Pro)	F9	Likely pathogenic	X	138643950	138643950	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000133.4(F9):c.*1157A>G	F9	Pathogenic/Likely pathogenic	X	138645387	138645387	A	G	criteria provided, multiple submitters, no conflicts	-