先天性第XI因子欠乏症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1489C>T (p.Arg497Ter)	F11	Pathogenic/Likely pathogenic	4	187207577	187207577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3164011
single nucleotide variant	NM_000128.4(F11):c.1613C>T (p.Pro538Leu)	F11	Pathogenic/Likely pathogenic	4	187208874	187208874	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199131,UniProtKB:P03951#VAR_054903
single nucleotide variant	NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	F11	Pathogenic/Likely pathogenic	4	187207644	187207644	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199086
single nucleotide variant	NM_000128.4(F11):c.1313C>A (p.Ser438Ter)	F11	Pathogenic/Likely pathogenic	4	187206800	187206800	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199128
single nucleotide variant	NM_000128.4(F11):c.1186C>T (p.Arg396Cys)	F11	Pathogenic/Likely pathogenic	4	187205296	187205296	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199052
single nucleotide variant	NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	F11	Pathogenic/Likely pathogenic	4	187201706	187201706	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199121
Deletion	NM_000128.4(F11):c.1075del (p.Ile359fs)	F11	Pathogenic/Likely pathogenic	4	187201671	187201671	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199045
Deletion	NM_000128.4(F11):c.908del (p.Gly303fs)	F11	Pathogenic/Likely pathogenic	4	187201417	187201417	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199127
single nucleotide variant	NM_000128.4(F11):c.751C>T (p.Gln251Ter)	F11	Likely pathogenic	4	187197540	187197540	C	T	criteria provided, single submitter	ClinGen:CA199098
single nucleotide variant	NM_000128.4(F11):c.730C>T (p.Gln244Ter)	F11	Pathogenic/Likely pathogenic	4	187197519	187197519	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199116