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.733C>T (p.Arg245Trp)	F8	Pathogenic/Likely pathogenic	X	154213016	154213016	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.979C>G (p.Leu327Val)	F8	Pathogenic/Likely pathogenic	X	154197636	154197636	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.1804C>G (p.Arg602Gly)	F8	Pathogenic/Likely pathogenic	X	154182266	154182266	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.6547A>G (p.Met2183Val)	F8	Pathogenic/Likely pathogenic	X	154091385	154091385	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000133.4(F9):c.*1157A>G	F9	Pathogenic/Likely pathogenic	X	138645387	138645387	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)	F8	Pathogenic/Likely pathogenic	X	154132225	154132225	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	F8	Pathogenic/Likely pathogenic	X	154130352	154130352	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10567911
single nucleotide variant	NM_000133.4(F9):c.835G>A (p.Ala279Thr)	F9	Pathogenic/Likely pathogenic	X	138643011	138643011	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277507,UniProtKB:P00740#VAR_006579
single nucleotide variant	NM_000133.4(F9):c.1328T>C (p.Ile443Thr)	F9	Pathogenic/Likely pathogenic	X	138644172	138644172	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255420,UniProtKB:P00740#VAR_017323,OMIM:300746.0069
single nucleotide variant	NM_000133.4(F9):c.1069G>A (p.Gly357Arg)	F9	Pathogenic/Likely pathogenic	X	138643913	138643913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255389,UniProtKB:P00740#VAR_017316,OMIM:300746.0054