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.1636C>T (p.Arg546Trp)	F8	Pathogenic/Likely pathogenic	X	154185348	154185348	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255112,UniProtKB:P00451#VAR_001107,OMIM:300841.0139
single nucleotide variant	NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)	F8	Pathogenic/Likely pathogenic	X	154065951	154065951	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255027,UniProtKB:P00451#VAR_001212,OMIM:300841.0042
single nucleotide variant	NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	F8	Pathogenic/Likely pathogenic	X	154132300	154132300	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255019,UniProtKB:P00451#VAR_001170,OMIM:300841.0026
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_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.1020A>C (p.Glu340Asp)	F8	Pathogenic	X	154194952	154194952	T	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	-