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.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.1336C>T (p.Arg446Ter)	F8	Pathogenic	X	154194352	154194352	G	A	criteria provided, single submitter	ClinGen:CA255038,OMIM:300841.0062
single nucleotide variant	NM_000132.4(F8):c.1350C>A (p.Tyr450Ter)	F8	Pathogenic	X	154194338	154194338	G	T	criteria provided, single submitter	ClinGen:CA414914845
single nucleotide variant	NM_000132.4(F8):c.1364T>G (p.Phe455Cys)	F8	Pathogenic	X	154194324	154194324	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1492G>A (p.Gly498Arg)	F8	Pathogenic	X	154189395	154189395	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255109,UniProtKB:P00451#VAR_001105,OMIM:300841.0134
single nucleotide variant	NM_000132.4(F8):c.1569G>T (p.Leu523=)	F8	Pathogenic	X	154185415	154185415	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10568430
single nucleotide variant	NM_000132.4(F8):c.1589A>G (p.Tyr530Cys)	F8	Pathogenic	X	154185395	154185395	T	C	criteria provided, single submitter	ClinGen:CA414912104
single nucleotide variant	NM_000132.4(F8):c.1621A>T (p.Thr541Ser)	F8	Pathogenic	X	154185363	154185363	T	A	criteria provided, single submitter	-
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.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