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.5143C>T (p.Arg1715Ter)	F8	Pathogenic	X	154156922	154156922	G	A	criteria provided, single submitter	ClinGen:CA255155,OMIM:300841.0184
single nucleotide variant	NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)	F8	Likely pathogenic	X	154156922	154156922	G	C	criteria provided, single submitter	ClinGen:CA255157,UniProtKB:P00451#VAR_001142,OMIM:300841.0185
single nucleotide variant	NM_000132.4(F8):c.5399G>A (p.Arg1800His)	F8	Pathogenic	X	154133273	154133273	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255162,UniProtKB:P00451#VAR_001150,OMIM:300841.0191
single nucleotide variant	NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)	F8	Likely pathogenic	X	154133250	154133250	G	A	criteria provided, single submitter	ClinGen:CA255166,UniProtKB:P00451#VAR_001154,OMIM:300841.0195
single nucleotide variant	NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)	F8	Likely pathogenic	X	154133142	154133142	G	A	criteria provided, single submitter	ClinGen:CA255170,UniProtKB:P00451#VAR_001156,OMIM:300841.0198
single nucleotide variant	NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)	F8	Pathogenic	X	154132357	154132357	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255184,UniProtKB:P00451#VAR_001169,OMIM:300841.0211
single nucleotide variant	NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)	F8	Pathogenic	X	154132226	154132226	G	A	criteria provided, single submitter	ClinGen:CA255191,OMIM:300841.0217
single nucleotide variant	NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)	F8	Pathogenic	X	154130395	154130395	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255197,UniProtKB:P00451#VAR_001175,OMIM:300841.0221
single nucleotide variant	NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)	F8	Pathogenic/Likely pathogenic	X	154124410	154124410	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255203,UniProtKB:P00451#VAR_001183,OMIM:300841.0227
single nucleotide variant	NM_000132.4(F8):c.6506G>A (p.Arg2169His)	F8	Pathogenic	X	154091426	154091426	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255208,UniProtKB:P00451#VAR_001187,OMIM:300841.0231