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.161A>T (p.Glu54Val)	F9	Likely pathogenic	X	138619241	138619241	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.7031G>A (p.Gly2344Asp)	F8	Likely pathogenic	X	154065897	154065897	C	T	criteria provided, single submitter	ClinGen:CA414896689
single nucleotide variant	NM_000133.4(F9):c.1115T>C (p.Leu372Pro)	F9	Likely pathogenic	X	138643959	138643959	T	C	criteria provided, single submitter	ClinGen:CA414445997
single nucleotide variant	NM_000133.4(F9):c.280G>A (p.Gly94Arg)	F9	Likely pathogenic	X	138623237	138623237	G	A	criteria provided, single submitter	ClinGen:CA414437361
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.3144G>A (p.Trp1048Ter)	F8	Likely pathogenic	X	154158921	154158921	C	T	criteria provided, single submitter	ClinGen:CA16609557
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_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_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.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