神経線維腫症I型

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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	NC_000017.10:g.(?_29422308)_(29701193_?)del	NF1	Pathogenic	17	29422308	29701193	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.2(NF1):c.(?_-50)_(*68_?)del	NF1	Pathogenic	17	29422278	29701241	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31094927)_(31182665_?)del	NF1	Pathogenic	17	29421945	29509683	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31094927)_(31095369_?)del	NF1	Pathogenic	17	29421945	29422387	na	na	criteria provided, single submitter	-
Deletion	NM_000267.3(NF1):c.-383_*3522del	NF1	Pathogenic	17	29421945	29704695	na	na	criteria provided, single submitter	-