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.1362_1375del (p.Lys455fs)	F11	Likely pathogenic	4	187206847	187206860	AATAAAAGAGGACAC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1478C>T (p.Thr493Ile)	F11	Likely pathogenic	4	187206965	187206965	C	T	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)	F11	Likely pathogenic	4	187197430	187197435	AACATCG	A	criteria provided, single submitter	-
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.1028+1G>A	F11	Likely pathogenic	4	187201540	187201540	G	A	criteria provided, single submitter	-
Duplication	NM_000128.4(F11):c.1472dup (p.Asn491fs)	F11	Likely pathogenic	4	187206957	187206958	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.1480+2T>C	F11	Likely pathogenic	4	187206969	187206969	T	C	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.343del (p.Tyr115fs)	F11	Likely pathogenic	4	187195285	187195285	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.359T>C (p.Met120Thr)	F11	Likely pathogenic	4	187195303	187195303	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.728C>T (p.Ser243Phe)	F11	Likely pathogenic	4	187197517	187197517	C	T	criteria provided, single submitter	-