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.1093T>C (p.Tyr365His)	F8	Likely pathogenic	X	154194879	154194879	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1364T>G (p.Phe455Cys)	F8	Pathogenic	X	154194324	154194324	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1621A>T (p.Thr541Ser)	F8	Pathogenic	X	154185363	154185363	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1654T>C (p.Tyr552His)	F8	Likely pathogenic	X	154185330	154185330	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1700T>C (p.Ile567Thr)	F8	Likely pathogenic	X	154185284	154185284	A	G	criteria provided, single submitter	-
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	-
Deletion	NM_000132.4(F8):c.1894del (p.Ile632fs)	F8	Likely pathogenic	X	154182176	154182176	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1898T>G (p.Met633Arg)	F8	Likely pathogenic	X	154182172	154182172	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.2043G>C (p.Met681Ile)	F8	Pathogenic	X	154176043	154176043	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.2099C>T (p.Ser700Leu)	F8	Likely pathogenic	X	154175987	154175987	G	A	criteria provided, single submitter	-