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.6976C>T (p.Arg2326Ter)	F8	Pathogenic	X	154065952	154065952	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255007,OMIM:300841.0001
single nucleotide variant	NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)	F8	Pathogenic	X	154090034	154090034	G	A	criteria provided, single submitter	ClinGen:CA255009,OMIM:300841.0002
single nucleotide variant	NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)	F8	Pathogenic	X	154124378	154124378	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255011,OMIM:300841.0004
single nucleotide variant	NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)	F8	Pathogenic	X	154091436	154091436	G	A	criteria provided, single submitter	ClinGen:CA255013,OMIM:300841.0012
single nucleotide variant	NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)	F8	Pathogenic	X	154090033	154090033	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255016,UniProtKB:P00451#VAR_001203,OMIM:300841.0014
single nucleotide variant	NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	F8	Pathogenic/Likely pathogenic	X	154132300	154132300	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255019,UniProtKB:P00451#VAR_001170,OMIM:300841.0026
single nucleotide variant	NM_000132.4(F8):c.1172G>A (p.Arg391His)	F8	Pathogenic	X	154194800	154194800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA120918,UniProtKB:P00451#VAR_001090,OMIM:300841.0027
single nucleotide variant	NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)	F8	Pathogenic	X	154156943	154156943	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120919,UniProtKB:P00451#VAR_001140,OMIM:300841.0030
single nucleotide variant	NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)	F8	Pathogenic	X	154156969	154156969	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255022,UniProtKB:P00451#VAR_001139,OMIM:300841.0031
single nucleotide variant	NM_000132.4(F8):c.1171C>T (p.Arg391Cys)	F8	Pathogenic	X	154194801	154194801	G	A	criteria provided, single submitter	ClinGen:CA255026,UniProtKB:P00451#VAR_001089,OMIM:300841.0041