神経線維腫症I型

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_000267.3(NF1):c.-383_*3522del	NF1	Pathogenic	17	29421945	29704695	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	NC_000017.11:g.(?_31094927)_(31182665_?)del	NF1	Pathogenic	17	29421945	29509683	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_000017.10:g.(?_29422308)_(29701193_?)del	NF1	Pathogenic	17	29422308	29701193	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	-
Deletion	NC_000017.11:g.(?_31095300)_(31095379_?)del	NF1	Pathogenic	17	29422318	29422397	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31095304)_(31156132_?)del	NF1	Pathogenic	17	29422322	29483150	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31095304)_(31374161_?)del	NF1	Pathogenic	17	29422322	29701179	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1A>G (p.Met1Val)	NF1	Pathogenic	17	29422328	29422328	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615129