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.1845+1_1845+5del	NF1	Pathogenic	17	29550582	29550586	ATAAGG	A	criteria provided, single submitter	ClinGen:CA645373090
single nucleotide variant	NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)	NF1	Pathogenic	17	29552133	29552133	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399005095
single nucleotide variant	NM_001042492.3(NF1):c.1949T>A (p.Leu650Ter)	NF1	Pathogenic	17	29552216	29552216	T	A	criteria provided, single submitter	ClinGen:CA399005472
single nucleotide variant	NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)	NF1	Pathogenic/Likely pathogenic	17	29556397	29556397	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA501154
single nucleotide variant	NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile)	NF1	Pathogenic/Likely pathogenic	17	29556872	29556872	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398986020
single nucleotide variant	NM_001042492.3(NF1):c.2990+1G>A	NF1	Pathogenic/Likely pathogenic	17	29556993	29556993	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398986461
Deletion	NM_001042492.3(NF1):c.3037del (p.Thr1013fs)	NF1	Pathogenic	17	29557320	29557320	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372612
single nucleotide variant	NM_001042492.3(NF1):c.3040A>T (p.Lys1014Ter)	NF1	Pathogenic	17	29557327	29557327	A	T	criteria provided, single submitter	ClinGen:CA398987348
single nucleotide variant	NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter)	NF1	Pathogenic	17	29557935	29557935	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988286
single nucleotide variant	NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser)	NF1	Pathogenic	17	29560101	29560101	T	C	criteria provided, single submitter	ClinGen:CA398990143