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.1390C>T (p.Gln464Ter)	F11	Likely pathogenic	4	187206877	187206877	C	T	criteria provided, single submitter	ClinGen:CA16040948
Deletion	NM_000128.4(F11):c.1362_1375del (p.Lys455fs)	F11	Likely pathogenic	4	187206847	187206860	AATAAAAGAGGACAC	A	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.1329del (p.Val444fs)	F11	Likely pathogenic	4	187206816	187206816	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1313C>A (p.Ser438Ter)	F11	Pathogenic/Likely pathogenic	4	187206800	187206800	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199128
single nucleotide variant	NM_000128.4(F11):c.1305-1G>A	F11	Likely pathogenic	4	187206791	187206791	G	A	criteria provided, single submitter	ClinGen:CA16040947
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
Duplication	NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)	F11	Pathogenic	4	187205384	187205385	G	GGATATTA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000128.4(F11):c.1253G>T (p.Gly418Val)	F11	Likely pathogenic	4	187205363	187205363	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121767,UniProtKB:P03951#VAR_054901,OMIM:264900.0014
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.1234C>T (p.Gln412Ter)	F11	Pathogenic/Likely pathogenic	4	187205344	187205344	C	T	criteria provided, multiple submitters, no conflicts	-