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.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
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.16C>T (p.Gln6Ter)	F11	Likely pathogenic	4	187188306	187188306	C	T	criteria provided, single submitter	-
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	-