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.1231A>G (p.Ser411Gly)	F9	Pathogenic	X	138644075	138644075	A	G	criteria provided, single submitter	ClinGen:CA255441,UniProtKB:P00740#VAR_017320,OMIM:300746.0094
single nucleotide variant	NM_000133.4(F9):c.1070G>A (p.Gly357Glu)	F9	Pathogenic	X	138643914	138643914	G	A	criteria provided, single submitter	ClinGen:CA255437,UniProtKB:P00740#VAR_006592,OMIM:300746.0091
single nucleotide variant	NM_000133.4(F9):c.484C>T (p.Arg162Ter)	F9	Pathogenic	X	138630614	138630614	C	T	criteria provided, single submitter	ClinGen:CA255430,OMIM:300746.0084
single nucleotide variant	NM_000133.4(F9):c.1120G>T (p.Val374Phe)	F9	Pathogenic	X	138643964	138643964	G	T	criteria provided, single submitter	ClinGen:CA255427,OMIM:300746.0083
single nucleotide variant	NM_000133.4(F9):c.1328T>C (p.Ile443Thr)	F9	Pathogenic/Likely pathogenic	X	138644172	138644172	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255420,UniProtKB:P00740#VAR_017323,OMIM:300746.0069
single nucleotide variant	NM_000133.4(F9):c.1150C>T (p.Arg384Ter)	F9	Pathogenic	X	138643994	138643994	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255399,OMIM:300746.0058
single nucleotide variant	NM_000133.4(F9):c.1136G>A (p.Arg379Gln)	F9	Pathogenic	X	138643980	138643980	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255394,UniProtKB:P00740#VAR_006597,OMIM:300746.0056
single nucleotide variant	NM_000133.4(F9):c.1135C>T (p.Arg379Ter)	F9	Pathogenic	X	138643979	138643979	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255391,OMIM:300746.0055
single nucleotide variant	NM_000133.4(F9):c.1069G>A (p.Gly357Arg)	F9	Pathogenic/Likely pathogenic	X	138643913	138643913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255389,UniProtKB:P00740#VAR_017316,OMIM:300746.0054
single nucleotide variant	NM_000133.4(F9):c.1025C>T (p.Thr342Met)	F9	Pathogenic/Likely pathogenic	X	138643869	138643869	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255381,UniProtKB:P00740#VAR_006589,OMIM:300746.0050