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.984T>G (p.Phe328Leu)	F8	Likely pathogenic	X	154197631	154197631	A	C	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NC_000023.10:g.(?_138612860)_(139587225_?)del	F9	Pathogenic	X	138612860	139587225	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_139530701)_(139563439_?)del	F9	Pathogenic	X	138612860	138645598	na	na	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	-
Deletion	NM_000132.4(F8):c.671-50_787+50del	F8	Likely pathogenic	X	154212912	154213128	TGGTGCTGAATTTGGAAGACCCTGAGGATTGTTGAGCAGGTGTGTACATACCTGGCAGAGACCTGTTTACATAACCATTGACTGTGTGCATTTTAGGCCAGGCCCGAGCAGATGCAGCATCCCTATCCTGCATCAAGGAGTTCTTTGTTTCTGAGTGCCAACTTTTCCCTGATGAGAGAGAAGGCAAAGATAGAGTCAGCTAAGCATGTGTCTCATGA	T	criteria provided, single submitter	-
Complex	Single allele	F8	Likely pathogenic	X	154156796	154227925	na	na	criteria provided, single submitter	-
Deletion	NM_000133.4(F9):c.521-35_723+84del	F9	Pathogenic	X	138633185	138633506	AAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5219+2T>C	F8	Likely pathogenic	X	154156844	154156844	A	G	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	-