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.5907_5908del (p.Arg1970fs)	NF1	Pathogenic	17	29661949	29661950	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA339508
Deletion	NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)	NF1	Pathogenic	17	29665752	29665755	CACTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA336456
single nucleotide variant	NM_001042492.3(NF1):c.7062+1G>A	NF1	Pathogenic	17	29667664	29667664	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339558
single nucleotide variant	NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter)	NF1	Pathogenic	17	29679299	29679299	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA336766
Duplication	NM_001042492.3(NF1):c.7797dup (p.Glu2600Ter)	NF1	Pathogenic	17	29684035	29684036	C	CT	criteria provided, single submitter	ClinGen:CA337846
single nucleotide variant	NM_001042492.3(NF1):c.1094C>A (p.Ser365Ter)	NF1	Pathogenic	17	29528086	29528086	C	A	criteria provided, single submitter	ClinGen:CA349742
single nucleotide variant	NM_001042492.3(NF1):c.1185+1G>A	NF1	Pathogenic	17	29528178	29528178	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348721
single nucleotide variant	NM_001042492.3(NF1):c.2251+2T>G	NF1	Pathogenic/Likely pathogenic	17	29553704	29553704	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA348566
single nucleotide variant	NM_001042492.3(NF1):c.3975-2A>G	NF1	Pathogenic	17	29576000	29576000	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349269
single nucleotide variant	NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	NF1	Pathogenic/Likely pathogenic	17	29588751	29588751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA350085