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_001042492.3(NF1):c.7393del (p.Asp2465fs)	NF1	Pathogenic	17	29677272	29677272	TG	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7415del (p.Pro2472fs)	NF1	Pathogenic	17	29677293	29677293	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7455T>A (p.Tyr2485Ter)	NF1	Pathogenic	17	29677334	29677334	T	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7612del (p.Gly2539fs)	NF1	Pathogenic	17	29679429	29679429	GC	G	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.7757_7758dup (p.Ser2587fs)	NF1	Pathogenic	17	29683995	29683996	T	TCA	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	-
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.7955_7956del (p.Lys2652fs)	NF1	Pathogenic	17	29684371	29684372	CAA	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7959del (p.Pro2655fs)	NF1	Pathogenic	17	29684376	29684376	TC	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	-