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
Deletion	NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)	F8	Pathogenic	X	154227807	154227810	TACAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255050,OMIM:300841.0076
single nucleotide variant	NM_000132.4(F8):c.121G>T (p.Gly41Cys)	F8	Pathogenic	X	154250707	154250707	C	A	criteria provided, single submitter	ClinGen:CA255048,UniProtKB:P00451#VAR_001047,OMIM:300841.0073
single nucleotide variant	NM_000132.4(F8):c.43C>T (p.Arg15Ter)	F8	Pathogenic	X	154250785	154250785	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255044,OMIM:300841.0069
single nucleotide variant	NM_000132.4(F8):c.1336C>T (p.Arg446Ter)	F8	Pathogenic	X	154194352	154194352	G	A	criteria provided, single submitter	ClinGen:CA255038,OMIM:300841.0062
single nucleotide variant	NM_000132.4(F8):c.1063C>T (p.Arg355Ter)	F8	Pathogenic	X	154194909	154194909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255031,OMIM:300841.0055
single nucleotide variant	NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)	F8	Pathogenic/Likely pathogenic	X	154065951	154065951	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255027,UniProtKB:P00451#VAR_001212,OMIM:300841.0042
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
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.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.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