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
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.596-7_600del	F11	Likely pathogenic	4	187197376	187197387	CGTCGCGCAGCTT	C	criteria provided, single submitter	ClinGen:CA16040944
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
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
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.219G>A (p.Trp73Ter)	F11	Pathogenic/Likely pathogenic	4	187194225	187194225	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163603
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
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.1288G>A (p.Ala430Thr)	F11	Pathogenic/Likely pathogenic	4	187205398	187205398	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163944
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