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.5143C>G (p.Arg1715Gly)	F8	Likely pathogenic	X	154156922	154156922	G	C	criteria provided, single submitter	ClinGen:CA255157,UniProtKB:P00451#VAR_001142,OMIM:300841.0185
single nucleotide variant	NM_000132.4(F8):c.1648C>G (p.Arg550Gly)	F8	Likely pathogenic	X	154185336	154185336	G	C	criteria provided, single submitter	ClinGen:CA255114,UniProtKB:P00451#VAR_001109,OMIM:300841.0141
single nucleotide variant	NM_000132.4(F8):c.1175C>T (p.Ser392Leu)	F8	Likely pathogenic	X	154194797	154194797	G	A	criteria provided, single submitter	ClinGen:CA255095,UniProtKB:P00451#VAR_001092,OMIM:300841.0122
single nucleotide variant	NM_000132.4(F8):c.986G>A (p.Cys329Tyr)	F8	Likely pathogenic	X	154197629	154197629	C	T	criteria provided, single submitter	ClinGen:CA255089,OMIM:300841.0118
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.493C>T (p.Pro165Ser)	F8	Likely pathogenic	X	154221319	154221319	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255065,UniProtKB:P00451#VAR_001064,OMIM:300841.0093