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.676C>T (p.Arg226Trp)	F9	Pathogenic/Likely pathogenic	X	138633376	138633376	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255350,UniProtKB:P00740#VAR_006570,OMIM:300746.0030
single nucleotide variant	NM_000133.4(F9):c.677G>A (p.Arg226Gln)	F9	Pathogenic	X	138633377	138633377	G	A	criteria provided, single submitter	ClinGen:CA121128,UniProtKB:P00740#VAR_006572,OMIM:300746.0031
Deletion	NM_000133.4(F9):c.521-35_723+84del	F9	Pathogenic	X	138633185	138633506	AAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG	A	criteria provided, single submitter	-
Deletion	NM_000133.4(F9):c.724-5_731del	F9	Likely pathogenic	X	138642888	138642900	TTTGTTTTCACAGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.757G>A (p.Gly253Arg)	F9	Likely pathogenic	X	138642933	138642933	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.802T>A (p.Cys268Ser)	F9	Likely pathogenic	X	138642978	138642978	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.835G>A (p.Ala279Thr)	F9	Pathogenic/Likely pathogenic	X	138643011	138643011	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277507,UniProtKB:P00740#VAR_006579
single nucleotide variant	NM_000133.4(F9):c.845A>G (p.His282Arg)	F9	Likely pathogenic	X	138643689	138643689	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.880C>T (p.Arg294Ter)	F9	Pathogenic	X	138643724	138643724	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255344,OMIM:300746.0044
single nucleotide variant	NM_000133.4(F9):c.881G>A (p.Arg294Gln)	F9	Pathogenic	X	138643725	138643725	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255368,UniProtKB:P00740#VAR_006583,OMIM:300746.0045