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
Deletion	NM_001042492.3(NF1):c.1541del (p.Gln514fs)	NF1	Pathogenic	17	29546036	29546036	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656590
single nucleotide variant	NM_001042492.3(NF1):c.1642-1G>T	NF1	Pathogenic	17	29548867	29548867	G	T	criteria provided, single submitter	ClinGen:CA399002210
Duplication	NM_001042492.3(NF1):c.2135_2136dup (p.Leu713fs)	NF1	Pathogenic	17	29553584	29553585	C	CCA	criteria provided, single submitter	ClinGen:CA658656605
single nucleotide variant	NM_001042492.3(NF1):c.2409+1G>T	NF1	Pathogenic	17	29554625	29554625	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398983340
Deletion	NM_001042492.3(NF1):c.2890del (p.Thr964fs)	NF1	Pathogenic	17	29556890	29556890	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656548
single nucleotide variant	NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter)	NF1	Pathogenic	17	29559779	29559779	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989100
Duplication	NM_001042492.3(NF1):c.3737dup (p.Phe1247fs)	NF1	Pathogenic	17	29562656	29562657	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656593
single nucleotide variant	NM_001042492.3(NF1):c.4333-2A>G	NF1	Pathogenic	17	29586048	29586048	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998666
single nucleotide variant	NM_001042492.3(NF1):c.4430+2T>G	NF1	Pathogenic	17	29586149	29586149	T	G	criteria provided, single submitter	ClinGen:CA398999023
single nucleotide variant	NM_001042492.3(NF1):c.4836-2A>C	NF1	Pathogenic	17	29652836	29652836	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399006870