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
Duplication	NM_000128.4(F11):c.1560dup (p.Tyr521fs)	F11	Likely pathogenic	4	187207643	187207644	T	TG	criteria provided, single submitter	ClinGen:CA16040950
Deletion	NM_000128.4(F11):c.1676_1682del (p.Ile559fs)	F11	Likely pathogenic	4	187208937	187208943	ATCTGTGC	A	criteria provided, single submitter	ClinGen:CA16040951
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
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.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.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.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.2T>A (p.Met1Lys)	F11	Likely pathogenic	4	187188292	187188292	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.16C>T (p.Gln6Ter)	F11	Likely pathogenic	4	187188306	187188306	C	T	criteria provided, single submitter	-
Duplication	NM_000128.4(F11):c.990dup (p.Thr331fs)	F11	Likely pathogenic	4	187201495	187201496	G	GT	criteria provided, single submitter	-