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.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
single nucleotide variant	NM_000133.4(F9):c.676C>T (p.Arg226Trp)	F9	Pathogenic/Likely pathogenic	X	138633376	138633376	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255350,UniProtKB:P00740#VAR_006570,OMIM:300746.0030
single nucleotide variant	NM_000133.4(F9):c.571C>T (p.Arg191Cys)	F9	Pathogenic/Likely pathogenic	X	138633271	138633271	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255340,UniProtKB:P00740#VAR_006569,OMIM:300746.0026
single nucleotide variant	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9	Pathogenic/Likely pathogenic	X	138619304	138619304	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255318,UniProtKB:P00740#VAR_017308,OMIM:300746.0016
single nucleotide variant	NM_000132.4(F8):c.6533G>A (p.Arg2178His)	F8	Pathogenic/Likely pathogenic	X	154091399	154091399	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255212,UniProtKB:P00451#VAR_001191,OMIM:300841.0236
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.5123G>A (p.Arg1708His)	F8	Pathogenic/Likely pathogenic	X	154156942	154156942	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255154,UniProtKB:P00451#VAR_001141,OMIM:300841.0183
Deletion	NM_000132.4(F8):c.3637del (p.Ile1213fs)	F8	Pathogenic/Likely pathogenic	X	154158428	154158428	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255146,OMIM:300841.0170
single nucleotide variant	NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	F8	Pathogenic/Likely pathogenic	X	154159916	154159916	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255137,UniProtKB:P00451#VAR_001130,OMIM:300841.0162
single nucleotide variant	NM_000132.4(F8):c.1660A>G (p.Ser554Gly)	F8	Pathogenic/Likely pathogenic	X	154185324	154185324	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255116,UniProtKB:P00451#VAR_001111,OMIM:300841.0143