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
Deletion	NC_000004.12:g.(?_185684754)_(186709827_?)del	F11	Pathogenic	4	186605908	187630981	na	na	criteria provided, single submitter	-
Deletion	Single allele	F11	Likely pathogenic	4	187186066	187210839	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.2T>A (p.Met1Lys)	F11	Likely pathogenic	4	187188292	187188292	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.3G>T (p.Met1Ile)	F11	Likely pathogenic	4	187188293	187188293	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA112146686
single nucleotide variant	NM_000128.4(F11):c.16C>T (p.Gln6Ter)	F11	Likely pathogenic	4	187188306	187188306	C	T	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.25_28del (p.His9fs)	F11	Likely pathogenic	4	187188315	187188318	ACATT	A	criteria provided, single submitter	ClinGen:CA16040939
single nucleotide variant	NM_000128.4(F11):c.67C>T (p.Gln23Ter)	F11	Pathogenic/Likely pathogenic	4	187192774	187192774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199124
Duplication	NM_000128.4(F11):c.155dup (p.Tyr52Ter)	F11	Likely pathogenic	4	187192861	187192862	T	TA	criteria provided, single submitter	-
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.218+1G>A	F11	Likely pathogenic	4	187192926	187192926	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040940