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.6592G>A (p.Gly2198Arg)	F8	Likely pathogenic	X	154090124	154090124	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6685C>T (p.Leu2229Phe)	F8	Pathogenic	X	154090031	154090031	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6686T>C (p.Leu2229Pro)	F8	Pathogenic	X	154090030	154090030	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.6776T>A (p.Val2259Asp)	F8	Likely pathogenic	X	154088831	154088831	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6920A>C (p.Asp2307Ala)	F8	Likely pathogenic	X	154066008	154066008	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.6932C>A (p.Pro2311His)	F8	Likely pathogenic	X	154065996	154065996	G	T	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_000133.4(F9):c.1106T>C (p.Leu369Pro)	F9	Likely pathogenic	X	138643950	138643950	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000133.4(F9):c.1067G>T (p.Trp356Leu)	F9	Likely pathogenic	X	138643911	138643911	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.1009G>A (p.Ala337Thr)	F9	Pathogenic	X	138643853	138643853	G	A	criteria provided, single submitter	-