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.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
single nucleotide variant	NM_000132.4(F8):c.979C>G (p.Leu327Val)	F8	Pathogenic/Likely pathogenic	X	154197636	154197636	G	C	criteria provided, multiple submitters, no conflicts	-
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_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.1020A>C (p.Glu340Asp)	F8	Pathogenic	X	154194952	154194952	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1034T>C (p.Val345Ala)	F8	Likely pathogenic	X	154194938	154194938	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1063C>T (p.Arg355Ter)	F8	Pathogenic	X	154194909	154194909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255031,OMIM:300841.0055
Duplication	NM_000132.4(F8):c.1073dup (p.Asn358fs)	F8	Likely pathogenic	X	154194898	154194899	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1093T>C (p.Tyr365His)	F8	Likely pathogenic	X	154194879	154194879	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1171C>T (p.Arg391Cys)	F8	Pathogenic	X	154194801	154194801	G	A	criteria provided, single submitter	ClinGen:CA255026,UniProtKB:P00451#VAR_001089,OMIM:300841.0041