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	NC_000004.12:g.(?_185684754)_(186709827_?)del	F11	Pathogenic	4	186605908	187630981	na	na	criteria provided, single submitter	-
Deletion	Single allele	F11	Likely pathogenic	4	187186066	187210839	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1822T>C (p.Tyr608His)	F11	Pathogenic	4	187209712	187209712	T	C	criteria provided, single submitter	ClinGen:CA219132,UniProtKB:P03951#VAR_067955,UniProtKB/Swiss-Prot:VAR_067955
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.1782C>A (p.Ser594Arg)	F11	Pathogenic	4	187209672	187209672	C	A	criteria provided, single submitter	ClinGen:CA121761,UniProtKB:P03951#VAR_012096,OMIM:264900.0011
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.1724C>A (p.Ser575Ter)	F11	Likely pathogenic	4	187209614	187209614	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1724C>T (p.Ser575Leu)	F11	Likely pathogenic	4	187209614	187209614	C	T	criteria provided, single submitter	ClinGen:CA219128,UniProtKB:P03951#VAR_067953,UniProtKB/Swiss-Prot:VAR_067953
single nucleotide variant	NM_000128.4(F11):c.1716+1G>A	F11	Pathogenic	4	187208978	187208978	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212929,OMIM:264900.0001
Deletion	NM_000128.4(F11):c.1676_1682del (p.Ile559fs)	F11	Likely pathogenic	4	187208937	187208943	ATCTGTGC	A	criteria provided, single submitter	ClinGen:CA16040951