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.751C>T (p.Gln251Ter)	F11	Likely pathogenic	4	187197540	187197540	C	T	criteria provided, single submitter	ClinGen:CA199098
single nucleotide variant	NM_000128.4(F11):c.730C>T (p.Gln244Ter)	F11	Pathogenic/Likely pathogenic	4	187197519	187197519	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199116
single nucleotide variant	NM_000128.4(F11):c.728C>T (p.Ser243Phe)	F11	Likely pathogenic	4	187197517	187197517	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.682C>T (p.Arg228Ter)	F11	Pathogenic/Likely pathogenic	4	187197471	187197471	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199060
single nucleotide variant	NM_000128.4(F11):c.664G>T (p.Asp222Tyr)	F11	Likely pathogenic	4	187197453	187197453	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA219144,UniProtKB:P03951#VAR_067936,UniProtKB/Swiss-Prot:VAR_067936
Deletion	NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)	F11	Likely pathogenic	4	187197430	187197435	AACATCG	A	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.596-7_600del	F11	Likely pathogenic	4	187197376	187197387	CGTCGCGCAGCTT	C	criteria provided, single submitter	ClinGen:CA16040944
single nucleotide variant	NM_000128.4(F11):c.486-2A>G	F11	Likely pathogenic	4	187196939	187196939	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040943
single nucleotide variant	NM_000128.4(F11):c.438C>A (p.Cys146Ter)	F11	Pathogenic/Likely pathogenic	4	187195382	187195382	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA121752,OMIM:264900.0007
single nucleotide variant	NM_000128.4(F11):c.408C>A (p.Cys136Ter)	F11	Pathogenic/Likely pathogenic	4	187195352	187195352	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199095