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.976C>T (p.Arg326Cys)	F11	Likely pathogenic	4	187201487	187201487	C	T	criteria provided, single submitter	ClinGen:CA121757,UniProtKB:P03951#VAR_012090,OMIM:264900.0009
Deletion	NM_000128.4(F11):c.964_965del (p.Thr322fs)	F11	Likely pathogenic	4	187201474	187201475	GCA	G	criteria provided, single submitter	ClinGen:CA16040945
single nucleotide variant	NM_000128.4(F11):c.943G>A (p.Glu315Lys)	F11	Pathogenic/Likely pathogenic	4	187201454	187201454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219162,UniProtKB:P03951#VAR_067942,UniProtKB/Swiss-Prot:VAR_067942
Deletion	NM_000128.4(F11):c.908del (p.Gly303fs)	F11	Pathogenic/Likely pathogenic	4	187201417	187201417	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199127
single nucleotide variant	NM_000128.4(F11):c.901T>C (p.Phe301Leu)	F11	Pathogenic	4	187201412	187201412	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA121748,UniProtKB:P03951#VAR_006622,OMIM:264900.0003
single nucleotide variant	NM_000128.4(F11):c.865+1G>C	F11	Likely pathogenic	4	187201276	187201276	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.841C>T (p.Gln281Ter)	F11	Pathogenic	4	187201251	187201251	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163793
single nucleotide variant	NM_000128.4(F11):c.802C>T (p.Arg268Cys)	F11	Pathogenic	4	187201212	187201212	C	T	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.769del (p.Thr259fs)	F11	Likely pathogenic	4	187201178	187201178	TC	T	criteria provided, single submitter	-
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	-