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.5268+5G>A	NF1	Pathogenic	17	29653275	29653275	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350113
single nucleotide variant	NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)	NF1	Pathogenic	17	29654769	29654769	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA350231
single nucleotide variant	NM_001042492.3(NF1):c.6922-2A>G	NF1	Pathogenic	17	29667521	29667521	A	G	criteria provided, single submitter	ClinGen:CA350053
Duplication	NM_001042492.3(NF1):c.6952dup (p.Val2318fs)	NF1	Pathogenic	17	29667550	29667551	T	TG	criteria provided, single submitter	ClinGen:CA16044137
single nucleotide variant	NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)	NF1	Pathogenic	17	29654553	29654553	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577035
Duplication	NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)	NF1	Pathogenic	17	29665755	29665756	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577038
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.629T>G (p.Leu210Ter)	NF1	Pathogenic	17	29508482	29508482	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580196
Duplication	NM_001042492.3(NF1):c.955dup (p.Ser319fs)	NF1	Pathogenic	17	29527503	29527504	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580208
single nucleotide variant	NM_001042492.3(NF1):c.1186-1G>T	NF1	Pathogenic/Likely pathogenic	17	29528428	29528428	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580215