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.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.1199C>T (p.Pro400Leu)	F11	Likely pathogenic	4	187205309	187205309	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163918
single nucleotide variant	NM_000128.4(F11):c.1789G>T (p.Glu597Ter)	F11	Likely pathogenic	4	187209679	187209679	G	T	criteria provided, single submitter	ClinGen:CA16040952
single nucleotide variant	NM_000128.4(F11):c.1778C>T (p.Thr593Met)	F11	Pathogenic/Likely pathogenic	4	187209668	187209668	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3164121
Deletion	NM_000128.4(F11):c.1676_1682del (p.Ile559fs)	F11	Likely pathogenic	4	187208937	187208943	ATCTGTGC	A	criteria provided, single submitter	ClinGen:CA16040951
Duplication	NM_000128.4(F11):c.1560dup (p.Tyr521fs)	F11	Likely pathogenic	4	187207643	187207644	T	TG	criteria provided, single submitter	ClinGen:CA16040950
single nucleotide variant	NM_000128.4(F11):c.1390C>T (p.Gln464Ter)	F11	Likely pathogenic	4	187206877	187206877	C	T	criteria provided, single submitter	ClinGen:CA16040948
single nucleotide variant	NM_000128.4(F11):c.1305-1G>A	F11	Likely pathogenic	4	187206791	187206791	G	A	criteria provided, single submitter	ClinGen:CA16040947
single nucleotide variant	NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)	F11	Pathogenic/Likely pathogenic	4	187205357	187205357	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163932
Deletion	NM_000128.4(F11):c.1232_1235del (p.Thr411fs)	F11	Likely pathogenic	4	187205340	187205343	CCACT	C	criteria provided, single submitter	ClinGen:CA16040946