血友病A/B - MGenReviews

血友病A/B

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.278-3A>G	F9	Pathogenic	X	138623232	138623232	A	G	criteria provided, single submitter	ClinGen:CA285284,OMIM:300746.0113
single nucleotide variant	NM_000133.4(F9):c.1144T>A (p.Cys382Ser)	F9	Likely pathogenic	X	138643988	138643988	T	A	criteria provided, single submitter	-
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
Deletion	NM_000132.4(F8):c.3091_3094del (p.Lys1031fs)	F8	Pathogenic	X	154158971	154158974	GTCTT	G	criteria provided, single submitter	ClinGen:CA645509240
single nucleotide variant	NM_000132.4(F8):c.6103G>A (p.Val2035Met)	F8	Pathogenic	X	154130338	154130338	C	T	criteria provided, single submitter	ClinGen:CA16609159
single nucleotide variant	NM_000132.4(F8):c.3144G>A (p.Trp1048Ter)	F8	Likely pathogenic	X	154158921	154158921	C	T	criteria provided, single submitter	ClinGen:CA16609557
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_000132.4(F8):c.5186G>A (p.Gly1729Glu)	F8	Pathogenic	X	154156879	154156879	C	T	criteria provided, single submitter	ClinGen:CA414913556
single nucleotide variant	NM_000132.4(F8):c.1778T>A (p.Ile593Asn)	F8	Likely pathogenic	X	154182292	154182292	A	T	criteria provided, single submitter	ClinGen:CA414911137
single nucleotide variant	NM_000132.4(F8):c.1589A>G (p.Tyr530Cys)	F8	Pathogenic	X	154185395	154185395	T	C	criteria provided, single submitter	ClinGen:CA414912104