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.6904C>T (p.Gln2302Ter)	NF1	Pathogenic	17	29665806	29665806	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043526
single nucleotide variant	NM_001042492.3(NF1):c.311T>G (p.Leu104Ter)	NF1	Pathogenic	17	29490226	29490226	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607194
single nucleotide variant	NM_001042492.3(NF1):c.5842T>G (p.Tyr1948Asp)	NF1	Pathogenic	17	29661885	29661885	T	G	criteria provided, single submitter	ClinGen:CA16607562
single nucleotide variant	NM_001042492.3(NF1):c.1062+3A>G	NF1	Pathogenic/Likely pathogenic	17	29527616	29527616	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608391
single nucleotide variant	NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu)	NF1	Pathogenic	17	29560134	29560134	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608393
Deletion	NC_000017.11:g.(?_31094927)_(31095369_?)del	NF1	Pathogenic	17	29421945	29422387	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31261711)_(31340645_?)del	NF1	Pathogenic	17	29588729	29667663	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31343009)_(31343135_?)del	NF1	Pathogenic	17	29670027	29670153	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31163186)_(31163376_?)del	NF1	Pathogenic	17	29490204	29490394	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31163186)_(31169997_?)del	NF1	Pathogenic	17	29490204	29497015	na	na	criteria provided, single submitter	-