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.6818A>T (p.Lys2273Met)	NF1	Pathogenic	17	29665156	29665156	A	T	criteria provided, single submitter	ClinGen:CA16615576
Deletion	NM_001042492.3(NF1):c.7607del (p.Lys2536fs)	NF1	Pathogenic	17	29679423	29679423	GA	G	criteria provided, single submitter	ClinGen:CA16615589
Deletion	NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer)	NF1	Pathogenic	17	29683558	29683558	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615590
single nucleotide variant	NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)	NF1	Pathogenic/Likely pathogenic	17	29556175	29556175	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615616
single nucleotide variant	NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)	NF1	Pathogenic/Likely pathogenic	17	29559864	29559864	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615630
single nucleotide variant	NM_001042492.3(NF1):c.3712G>T (p.Glu1238Ter)	NF1	Pathogenic	17	29562632	29562632	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615636
single nucleotide variant	NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter)	NF1	Pathogenic	17	29587514	29587514	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615644
Deletion	NM_001042492.3(NF1):c.4598del (p.Arg1533fs)	NF1	Pathogenic	17	29588749	29588749	AG	A	criteria provided, single submitter	ClinGen:CA16615646
single nucleotide variant	NM_001042492.3(NF1):c.5650T>C (p.Phe1884Leu)	NF1	Pathogenic	17	29657354	29657354	T	C	criteria provided, single submitter	ClinGen:CA16615653
single nucleotide variant	NM_001042492.3(NF1):c.6428-2A>G	NF1	Pathogenic/Likely pathogenic	17	29664384	29664384	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615664