先天性第XI因子欠乏症

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_000128.4(F11):c.943G>A (p.Glu315Lys)	F11	Pathogenic/Likely pathogenic	4	187201454	187201454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219162,UniProtKB:P03951#VAR_067942,UniProtKB/Swiss-Prot:VAR_067942
single nucleotide variant	NM_000128.4(F11):c.166T>C (p.Cys56Arg)	F11	Pathogenic/Likely pathogenic	4	187192873	187192873	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA121763,UniProtKB:P03951#VAR_054895,OMIM:264900.0012
single nucleotide variant	NM_000128.4(F11):c.438C>A (p.Cys146Ter)	F11	Pathogenic/Likely pathogenic	4	187195382	187195382	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA121752,OMIM:264900.0007
Deletion	NC_000004.12:g.(?_185684754)_(186709827_?)del	F11	Pathogenic	4	186605908	187630981	na	na	criteria provided, single submitter	-
Duplication	NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)	F11	Pathogenic	4	187205384	187205385	G	GGATATTA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000128.4(F11):c.802C>T (p.Arg268Cys)	F11	Pathogenic	4	187201212	187201212	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.841C>T (p.Gln281Ter)	F11	Pathogenic	4	187201251	187201251	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163793
single nucleotide variant	NM_000128.4(F11):c.326-1G>A	F11	Pathogenic	4	187195269	187195269	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040942
single nucleotide variant	NM_000128.4(F11):c.1822T>C (p.Tyr608His)	F11	Pathogenic	4	187209712	187209712	T	C	criteria provided, single submitter	ClinGen:CA219132,UniProtKB:P03951#VAR_067955,UniProtKB/Swiss-Prot:VAR_067955
single nucleotide variant	NM_000128.4(F11):c.1782C>A (p.Ser594Arg)	F11	Pathogenic	4	187209672	187209672	C	A	criteria provided, single submitter	ClinGen:CA121761,UniProtKB:P03951#VAR_012096,OMIM:264900.0011