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	NM_000267.3(NF1):c.-383_*3522del	NF1	Pathogenic	17	29421945	29704695	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.(?_31155963)_(31374175_?)del	NF1	Pathogenic	17	29482981	29701193	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31325800)_(31374175_?)del	NF1	Pathogenic	17	29652818	29701193	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(?_29422308)_(29701193_?)del	NF1	Pathogenic	17	29422308	29701193	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31169881)_(31374165_?)del	NF1	Pathogenic	17	29496899	29701183	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31325810)_(31374165_?)del	NF1	Pathogenic	17	29652828	29701183	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31248974)_(31374165_?)del	NF1	Pathogenic	17	29575992	29701183	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31218995)_(31374165_?)del	NF1	Pathogenic	17	29546013	29701183	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31095300)_(31374165_?)del	NF1	Pathogenic	17	29422318	29701183	na	na	criteria provided, single submitter	-