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.204+1G>A	NF1	Pathogenic	17	29483145	29483145	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588647
Duplication	NM_001042492.3(NF1):c.4380dup (p.Met1461fs)	NF1	Pathogenic	17	29586096	29586097	A	AT	criteria provided, single submitter	ClinGen:CA10603295
Deletion	NM_001042492.3(NF1):c.4333-2del	NF1	Pathogenic	17	29586048	29586048	TA	T	criteria provided, single submitter	ClinGen:CA10603371
single nucleotide variant	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1	Pathogenic	17	29556079	29556079	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603442
single nucleotide variant	NM_001042492.3(NF1):c.2T>C (p.Met1Thr)	NF1	Pathogenic	17	29422329	29422329	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603591
Duplication	NM_001042492.3(NF1):c.2665dup (p.Thr889fs)	NF1	Pathogenic/Likely pathogenic	17	29556297	29556298	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603592
Deletion	NM_001042492.3(NF1):c.15del (p.Arg5fs)	NF1	Pathogenic	17	29422341	29422341	AG	A	criteria provided, single submitter	ClinGen:CA10654925
single nucleotide variant	NM_001042492.3(NF1):c.1591C>T (p.Gln531Ter)	NF1	Pathogenic	17	29546086	29546086	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042974
single nucleotide variant	NM_001042492.3(NF1):c.587-2A>T	NF1	Pathogenic	17	29508438	29508438	A	T	criteria provided, single submitter	ClinGen:CA16043013
single nucleotide variant	NM_001042492.3(NF1):c.4836-1G>A	NF1	Pathogenic/Likely pathogenic	17	29652837	29652837	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043023