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.2252-1G>C	NF1	Pathogenic/Likely pathogenic	17	29554235	29554235	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA164774
single nucleotide variant	NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg)	NF1	Likely pathogenic	17	29556142	29556142	T	A	criteria provided, single submitter	ClinGen:CA165409
Insertion	NM_001042492.3(NF1):c.4904_4905insAAT (p.Tyr1635Ter)	NF1	Pathogenic	17	29652906	29652907	A	AAAT	criteria provided, single submitter	ClinGen:CA165554
Duplication	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1	Pathogenic	17	29553477	29553478	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA165662
Insertion	NM_001042492.3(NF1):c.2622_2623insA (p.Gly875fs)	NF1	Pathogenic	17	29556255	29556256	G	GA	criteria provided, single submitter	ClinGen:CA166117
single nucleotide variant	NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter)	NF1	Pathogenic	17	29661882	29661882	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA166718
single nucleotide variant	NM_001042492.3(NF1):c.2589T>G (p.Tyr863Ter)	NF1	Pathogenic	17	29556222	29556222	T	G	criteria provided, single submitter	ClinGen:CA169728
single nucleotide variant	NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)	NF1	Pathogenic	17	29422382	29422382	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196174
single nucleotide variant	NM_001042492.3(NF1):c.625C>T (p.Gln209Ter)	NF1	Pathogenic	17	29508478	29508478	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196655
single nucleotide variant	NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter)	NF1	Pathogenic	17	29508778	29508778	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA196302