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>G (p.Tyr2285Ter)	NF1	Pathogenic	17	29665757	29665757	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8487442
single nucleotide variant	NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter)	NF1	Pathogenic	17	29670081	29670081	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399015622
single nucleotide variant	NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter)	NF1	Pathogenic	17	29676236	29676236	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399016860
single nucleotide variant	NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter)	NF1	Pathogenic	17	29679291	29679291	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399017446
single nucleotide variant	NM_001042492.3(NF1):c.7970+1G>A	NF1	Pathogenic	17	29684388	29684388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399203571
single nucleotide variant	NM_001042492.3(NF1):c.204+1G>T	NF1	Pathogenic	17	29483145	29483145	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA289348717
single nucleotide variant	NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)	NF1	Pathogenic/Likely pathogenic	17	29486100	29486100	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989829
Insertion	NM_001042492.3(NF1):c.372_373insTT (p.Arg125fs)	NF1	Pathogenic	17	29490286	29490287	G	GTT	criteria provided, single submitter	ClinGen:CA658658579
Indel	NM_001042492.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys)	NF1	Likely pathogenic	17	29497015	29497015	G	TTAA	criteria provided, single submitter	ClinGen:CA658658584
Duplication	NM_001042492.3(NF1):c.724dup (p.Met242fs)	NF1	Pathogenic	17	29508796	29508797	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656555