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.6532C>T (p.Arg2178Cys)	F8	Pathogenic	X	154091400	154091400	G	A	criteria provided, single submitter	ClinGen:CA255211,UniProtKB:P00451#VAR_001190,OMIM:300841.0234
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.6545G>A (p.Arg2182His)	F8	Pathogenic	X	154091387	154091387	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255213,UniProtKB:P00451#VAR_001194,OMIM:300841.0237
single nucleotide variant	NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)	F8	Pathogenic	X	154091388	154091388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255214,UniProtKB:P00451#VAR_001193,OMIM:300841.0238
single nucleotide variant	NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)	F8	Pathogenic	X	154088863	154088863	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255218,UniProtKB:P00451#VAR_001205,OMIM:300841.0244
single nucleotide variant	NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)	F8	Pathogenic	X	154065972	154065972	G	A	criteria provided, single submitter	ClinGen:CA255224,UniProtKB:P00451#VAR_001207,OMIM:300841.0249
single nucleotide variant	NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)	F8	Pathogenic	X	154065961	154065961	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255225,UniProtKB:P00451#VAR_001209,OMIM:300841.0250
single nucleotide variant	NM_000132.4(F8):c.592T>G (p.Cys198Gly)	F8	Likely pathogenic	X	154221220	154221220	A	C	criteria provided, single submitter	ClinGen:CA255227,UniProtKB:P00451#VAR_028490,OMIM:300841.0268
single nucleotide variant	NM_000133.4(F9):c.223C>T (p.Arg75Ter)	F9	Pathogenic	X	138619303	138619303	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340993,OMIM:300746.0015
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