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.1107C>A (p.Tyr369Ter)	F11	Pathogenic/Likely pathogenic	4	187201706	187201706	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199121
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.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.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.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.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.1432G>A (p.Gly478Arg)	F11	Pathogenic/Likely pathogenic	4	187206919	187206919	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163979
single nucleotide variant	NM_000128.4(F11):c.1288G>A (p.Ala430Thr)	F11	Pathogenic/Likely pathogenic	4	187205398	187205398	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163944
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.218+1G>A	F11	Likely pathogenic	4	187192926	187192926	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040940