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
Deletion	NM_000128.4(F11):c.990del (p.Phe330fs)	F11	Likely pathogenic	4	187201496	187201496	GT	G	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	-
Duplication	NM_000128.4(F11):c.155dup (p.Tyr52Ter)	F11	Likely pathogenic	4	187192861	187192862	T	TA	criteria provided, single submitter	-
Duplication	NM_000128.4(F11):c.1620_1621dup (p.Thr541fs)	F11	Likely pathogenic	4	187208880	187208881	T	TGA	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1481-1G>C	F11	Likely pathogenic	4	187207568	187207568	G	C	criteria provided, single submitter	-
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	-
Duplication	NM_000128.4(F11):c.990dup (p.Thr331fs)	F11	Likely pathogenic	4	187201495	187201496	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.16C>T (p.Gln6Ter)	F11	Likely pathogenic	4	187188306	187188306	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.2T>A (p.Met1Lys)	F11	Likely pathogenic	4	187188292	187188292	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.3G>T (p.Met1Ile)	F11	Likely pathogenic	4	187188293	187188293	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA112146686