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.1199C>T (p.Pro400Leu)	F11	Likely pathogenic	4	187205309	187205309	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163918
single nucleotide variant	NM_000128.4(F11):c.1186C>T (p.Arg396Cys)	F11	Pathogenic/Likely pathogenic	4	187205296	187205296	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199052
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.1120T>C (p.Cys374Arg)	F11	Likely pathogenic	4	187201719	187201719	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1118T>C (p.Leu373Ser)	F11	Likely pathogenic	4	187201717	187201717	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	F11	Pathogenic/Likely pathogenic	4	187201706	187201706	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199121
Deletion	NM_000128.4(F11):c.1075del (p.Ile359fs)	F11	Pathogenic/Likely pathogenic	4	187201671	187201671	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199045
single nucleotide variant	NM_000128.4(F11):c.1028+1G>A	F11	Likely pathogenic	4	187201540	187201540	G	A	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.990del (p.Phe330fs)	F11	Likely pathogenic	4	187201496	187201496	GT	G	criteria provided, single submitter	-
Duplication	NM_000128.4(F11):c.990dup (p.Thr331fs)	F11	Likely pathogenic	4	187201495	187201496	G	GT	criteria provided, single submitter	-