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.1620_1621dup (p.Thr541fs)	F11	Likely pathogenic	4	187208880	187208881	T	TGA	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1613C>T (p.Pro538Leu)	F11	Pathogenic/Likely pathogenic	4	187208874	187208874	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199131,UniProtKB:P03951#VAR_054903
Duplication	NM_000128.4(F11):c.1560dup (p.Tyr521fs)	F11	Likely pathogenic	4	187207643	187207644	T	TG	criteria provided, single submitter	ClinGen:CA16040950
single nucleotide variant	NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	F11	Pathogenic/Likely pathogenic	4	187207644	187207644	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199086
single nucleotide variant	NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	F11	Pathogenic/Likely pathogenic	4	187207577	187207577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3164011
single nucleotide variant	NM_000128.4(F11):c.1481-1G>C	F11	Likely pathogenic	4	187207568	187207568	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1480+2T>C	F11	Likely pathogenic	4	187206969	187206969	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1478C>T (p.Thr493Ile)	F11	Likely pathogenic	4	187206965	187206965	C	T	criteria provided, single submitter	-
Duplication	NM_000128.4(F11):c.1472dup (p.Asn491fs)	F11	Likely pathogenic	4	187206957	187206958	G	GA	criteria provided, single submitter	-
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