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.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.408C>A (p.Cys136Ter)	F11	Pathogenic/Likely pathogenic	4	187195352	187195352	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199095
single nucleotide variant	NM_000128.4(F11):c.67C>T (p.Gln23Ter)	F11	Pathogenic/Likely pathogenic	4	187192774	187192774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA199124
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
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
single nucleotide variant	NM_000128.4(F11):c.1822T>C (p.Tyr608His)	F11	Pathogenic	4	187209712	187209712	T	C	criteria provided, single submitter	ClinGen:CA219132,UniProtKB:P03951#VAR_067955,UniProtKB/Swiss-Prot:VAR_067955
single nucleotide variant	NM_000128.4(F11):c.1724C>T (p.Ser575Leu)	F11	Likely pathogenic	4	187209614	187209614	C	T	criteria provided, single submitter	ClinGen:CA219128,UniProtKB:P03951#VAR_067953,UniProtKB/Swiss-Prot:VAR_067953
single nucleotide variant	NM_000128.4(F11):c.1207G>A (p.Val403Met)	F11	Likely pathogenic	4	187205317	187205317	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219102,UniProtKB:P03951#VAR_067946,UniProtKB/Swiss-Prot:VAR_067946
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.166T>C (p.Cys56Arg)	F11	Pathogenic/Likely pathogenic	4	187192873	187192873	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA121763,UniProtKB:P03951#VAR_054895,OMIM:264900.0012