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.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.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.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.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.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.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.541G>A (p.Val181Met)	F8	Pathogenic	X	154221271	154221271	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255066,UniProtKB:P00451#VAR_001065,OMIM:300841.0094
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
single nucleotide variant	NM_000132.4(F8):c.323A>C (p.Lys108Thr)	F8	Pathogenic	X	154225313	154225313	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA255056,UniProtKB:P00451#VAR_001054,OMIM:300841.0084