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.1234C>T (p.Gln412Ter)	F11	Pathogenic/Likely pathogenic	4	187205344	187205344	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000128.4(F11):c.755+2T>C	F11	Pathogenic/Likely pathogenic	4	187197546	187197546	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000128.4(F11):c.1136-7_1136-4del	F11	Pathogenic/Likely pathogenic	4	187205239	187205242	TGTTG	T	criteria provided, multiple submitters, no conflicts	-
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.1247G>A (p.Cys416Tyr)	F11	Pathogenic/Likely pathogenic	4	187205357	187205357	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163932
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.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
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.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