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.5268+2T>G	NF1	Pathogenic/Likely pathogenic	17	29653272	29653272	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5269-2A>G	NF1	Pathogenic	17	29654515	29654515	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)	NF1	Likely pathogenic	17	29654533	29654533	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)	NF1	Pathogenic/Likely pathogenic	17	29654605	29654605	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.5548_5549del (p.Val1850fs)	NF1	Pathogenic	17	29654795	29654796	ATG	A	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs)	NF1	Likely pathogenic	17	29654808	29654810	CTG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser)	NF1	Likely pathogenic	17	29657328	29657328	A	G	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.5663dup (p.Glu1889fs)	NF1	Likely pathogenic	17	29657366	29657367	A	AT	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.5676dup (p.Leu1893fs)	NF1	Pathogenic	17	29657379	29657380	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5812+1G>T	NF1	Likely pathogenic	17	29657517	29657517	G	T	criteria provided, single submitter	-