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	NC_000017.11:g.(?_31218995)_(31374165_?)del	NF1	Pathogenic	17	29546013	29701183	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31200422)_(31265339_?)del	NF1	Pathogenic	17	29527440	29592357	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	NM_001042492.3(NF1):c.8205_8214del (p.Asp2736fs)	NF1	Pathogenic	17	29687549	29687558	TTGATGCCTTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.8158A>T (p.Lys2720Ter)	NF1	Pathogenic	17	29686031	29686031	A	T	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.8084_8089delinsA (p.Pro2695fs)	NF1	Pathogenic	17	29685611	29685616	CACCAC	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7959del (p.Pro2655fs)	NF1	Pathogenic	17	29684376	29684376	TC	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7955_7956del (p.Lys2652fs)	NF1	Pathogenic	17	29684371	29684372	CAA	C	criteria provided, single submitter	-
Insertion	NM_001042492.3(NF1):c.7917_7918insA (p.Tyr2640fs)	NF1	Pathogenic	17	29684334	29684335	T	TA	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs)	NF1	Pathogenic	17	29684022	29684023	TAA	T	criteria provided, multiple submitters, no conflicts	-