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
single nucleotide variant	NM_001042492.3(NF1):c.1260+1604A>G	NF1	Pathogenic	17	29530107	29530107	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369654
single nucleotide variant	NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter)	NF1	Pathogenic	17	29533275	29533275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398999137
Deletion	NM_001042492.3(NF1):c.1551_1564del (p.Glu517fs)	NF1	Pathogenic	17	29546045	29546058	GAAACCCAAGGCAGT	G	criteria provided, single submitter	ClinGen:CA645369655
single nucleotide variant	NM_001042492.3(NF1):c.1721+1G>T	NF1	Pathogenic	17	29548948	29548948	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399002392
single nucleotide variant	NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter)	NF1	Pathogenic	17	29550536	29550536	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399004390
single nucleotide variant	NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)	NF1	Pathogenic/Likely pathogenic	17	29550585	29550585	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399004780
Deletion	NM_001042492.3(NF1):c.1961del (p.Pro654fs)	NF1	Pathogenic	17	29552227	29552227	TC	T	criteria provided, single submitter	ClinGen:CA645369659
Deletion	NM_001042492.3(NF1):c.2033del (p.Pro678fs)	NF1	Pathogenic	17	29553478	29553478	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8485910
single nucleotide variant	NM_001042492.3(NF1):c.2088G>A (p.Trp696Ter)	NF1	Pathogenic	17	29553539	29553539	G	A	criteria provided, single submitter	ClinGen:CA398982224
single nucleotide variant	NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)	NF1	Pathogenic/Likely pathogenic	17	29553576	29553576	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982309