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.403G>T (p.Glu135Ter)	F11	Pathogenic	4	187195347	187195347	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121745,OMIM:264900.0002
single nucleotide variant	NM_000128.4(F11):c.359T>C (p.Met120Thr)	F11	Likely pathogenic	4	187195303	187195303	T	C	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.343del (p.Tyr115fs)	F11	Likely pathogenic	4	187195285	187195285	AT	A	criteria provided, single submitter	-
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
single nucleotide variant	NM_000128.4(F11):c.166T>C (p.Cys56Arg)	F11	Pathogenic/Likely pathogenic	4	187192873	187192873	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA121763,UniProtKB:P03951#VAR_054895,OMIM:264900.0012
Duplication	NM_000128.4(F11):c.155dup (p.Tyr52Ter)	F11	Likely pathogenic	4	187192861	187192862	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.67C>T (p.Gln23Ter)	F11	Pathogenic/Likely pathogenic	4	187192774	187192774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199124