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.219G>A (p.Trp73Ter)	F11	Pathogenic/Likely pathogenic	4	187194225	187194225	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163603
Deletion	NM_000128.4(F11):c.291del (p.Tyr98fs)	F11	Likely pathogenic	4	187194295	187194295	TG	T	criteria provided, single submitter	ClinGen:CA16040941
single nucleotide variant	NM_000128.4(F11):c.326-1G>A	F11	Pathogenic	4	187195269	187195269	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040942
single nucleotide variant	NM_000128.4(F11):c.486-2A>G	F11	Likely pathogenic	4	187196939	187196939	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040943
Deletion	NM_000128.4(F11):c.596-7_600del	F11	Likely pathogenic	4	187197376	187197387	CGTCGCGCAGCTT	C	criteria provided, single submitter	ClinGen:CA16040944
Deletion	NM_000128.4(F11):c.964_965del (p.Thr322fs)	F11	Likely pathogenic	4	187201474	187201475	GCA	G	criteria provided, single submitter	ClinGen:CA16040945
Deletion	NM_000128.4(F11):c.1232_1235del (p.Thr411fs)	F11	Likely pathogenic	4	187205340	187205343	CCACT	C	criteria provided, single submitter	ClinGen:CA16040946
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
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.1390C>T (p.Gln464Ter)	F11	Likely pathogenic	4	187206877	187206877	C	T	criteria provided, single submitter	ClinGen:CA16040948