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.6855C>A (p.Tyr2285Ter)	NF1	Pathogenic	17	29665757	29665757	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA190957
single nucleotide variant	NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)	NF1	Pathogenic	17	29677227	29677227	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA192953
Deletion	NM_001042492.3(NF1):c.7392del (p.Asp2465fs)	NF1	Pathogenic	17	29677271	29677271	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA191988
single nucleotide variant	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1	Pathogenic/Likely pathogenic	17	29684326	29684326	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA188413
single nucleotide variant	NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter)	NF1	Pathogenic	17	29685622	29685622	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196638
Duplication	NM_001042492.3(NF1):c.1738dup (p.Tyr580fs)	NF1	Pathogenic	17	29550472	29550473	C	CT	criteria provided, single submitter	ClinGen:CA334783
Deletion	NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)	NF1	Pathogenic	17	29550522	29550523	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334004
single nucleotide variant	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1	Pathogenic	17	29553492	29553492	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334507
Deletion	NM_001042492.3(NF1):c.2298_2304del (p.Glu767fs)	NF1	Pathogenic	17	29554278	29554284	CGCATTGA	C	criteria provided, single submitter	ClinGen:CA334358
single nucleotide variant	NM_001042492.3(NF1):c.3494T>A (p.Ile1165Lys)	NF1	Pathogenic	17	29559897	29559897	T	A	criteria provided, single submitter	ClinGen:CA334585