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.6082G>A (p.Gly2028Arg)	F8	Pathogenic	X	154130359	154130359	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5918A>T (p.His1973Leu)	F8	Pathogenic	X	154132261	154132261	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5896A>C (p.Met1966Leu)	F8	Likely pathogenic	X	154132283	154132283	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5303G>A (p.Arg1768His)	F8	Likely pathogenic	X	154134765	154134765	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5217C>T (p.Asn1739=)	F8	Likely pathogenic	X	154156848	154156848	G	A	criteria provided, single submitter	-
Duplication	NM_000132.4(F8):c.4313dup (p.Ser1439fs)	F8	Likely pathogenic	X	154157751	154157752	T	TG	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	-
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.1898T>G (p.Met633Arg)	F8	Likely pathogenic	X	154182172	154182172	A	C	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.1894del (p.Ile632fs)	F8	Likely pathogenic	X	154182176	154182176	AT	A	criteria provided, single submitter	-