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.558C>A (p.Asp186Glu)	F8	Likely pathogenic	X	154221254	154221254	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.575T>C (p.Ile192Thr)	F8	Pathogenic	X	154221237	154221237	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.592T>G (p.Cys198Gly)	F8	Likely pathogenic	X	154221220	154221220	A	C	criteria provided, single submitter	ClinGen:CA255227,UniProtKB:P00451#VAR_028490,OMIM:300841.0268
single nucleotide variant	NM_000132.4(F8):c.733C>T (p.Arg245Trp)	F8	Pathogenic/Likely pathogenic	X	154213016	154213016	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000132.4(F8):c.671-50_787+50del	F8	Likely pathogenic	X	154212912	154213128	TGGTGCTGAATTTGGAAGACCCTGAGGATTGTTGAGCAGGTGTGTACATACCTGGCAGAGACCTGTTTACATAACCATTGACTGTGTGCATTTTAGGCCAGGCCCGAGCAGATGCAGCATCCCTATCCTGCATCAAGGAGTTCTTTGTTTCTGAGTGCCAACTTTTCCCTGATGAGAGAGAAGGCAAAGATAGAGTCAGCTAAGCATGTGTCTCATGA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.797G>A (p.Gly266Glu)	F8	Likely pathogenic	X	154197818	154197818	C	T	criteria provided, single submitter	ClinGen:CA255071,UniProtKB:P00451#VAR_001071,OMIM:300841.0102
single nucleotide variant	NM_000132.4(F8):c.877C>G (p.His293Asp)	F8	Likely pathogenic	X	154197738	154197738	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.902G>A (p.Arg301His)	F8	Pathogenic	X	154197713	154197713	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255079,UniProtKB:P00451#VAR_001077,OMIM:300841.0109
single nucleotide variant	NM_000132.4(F8):c.923C>T (p.Ser308Leu)	F8	Pathogenic	X	154197692	154197692	G	A	criteria provided, single submitter	ClinGen:CA255082,UniProtKB:P00451#VAR_001079,OMIM:300841.0112
single nucleotide variant	NM_000132.4(F8):c.935T>C (p.Phe312Ser)	F8	Pathogenic	X	154197680	154197680	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA255083,UniProtKB:P00451#VAR_001080,OMIM:300841.0113