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.1A>G (p.Met1Val)	NF1	Pathogenic	17	29422328	29422328	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615129
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
single nucleotide variant	NM_001042492.3(NF1):c.2T>G (p.Met1Arg)	NF1	Pathogenic	17	29422329	29422329	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398979149
single nucleotide variant	NM_001042492.3(NF1):c.2T>A (p.Met1Lys)	NF1	Pathogenic/Likely pathogenic	17	29422329	29422329	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3G>A (p.Met1Ile)	NF1	Pathogenic	17	29422330	29422330	G	A	criteria provided, multiple submitters, no conflicts	-
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.26G>A (p.Trp9Ter)	NF1	Pathogenic	17	29422353	29422353	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.31C>T (p.Gln11Ter)	NF1	Pathogenic	17	29422358	29422358	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577556
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.58C>T (p.Gln20Ter)	NF1	Pathogenic/Likely pathogenic	17	29422385	29422385	C	T	criteria provided, multiple submitters, no conflicts	-