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.88+5G>T	F9	Likely pathogenic	X	138613016	138613016	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.88+1G>A	F9	Likely pathogenic	X	138613012	138613012	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.88G>A (p.Val30Ile)	F9	Pathogenic	X	138613011	138613011	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.88G>C (p.Val30Leu)	F9	Pathogenic	X	138613011	138613011	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.82T>C (p.Cys28Arg)	F9	Pathogenic	X	138613005	138613005	T	C	criteria provided, single submitter	ClinGen:CA255450,UniProtKB:P00740#VAR_006522,OMIM:300746.0100
single nucleotide variant	NM_000133.3(F9):c.-35G>A	F9	Pathogenic	X	138612889	138612889	G	A	criteria provided, single submitter	OMIM:300746.0002,OMIM:300746.0003