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
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.1028+1G>A	F11	Likely pathogenic	4	187201540	187201540	G	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	-
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.1478C>T (p.Thr493Ile)	F11	Likely pathogenic	4	187206965	187206965	C	T	criteria provided, single submitter	-
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.1234C>T (p.Gln412Ter)	F11	Pathogenic/Likely pathogenic	4	187205344	187205344	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000128.4(F11):c.1724C>A (p.Ser575Ter)	F11	Likely pathogenic	4	187209614	187209614	C	A	criteria provided, single submitter	-
Deletion	NM_000128.4(F11):c.1329del (p.Val444fs)	F11	Likely pathogenic	4	187206816	187206816	GT	G	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	-