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	NC_000017.11:g.(?_31200412)_(31206381_?)del	NF1	Pathogenic	17	29527430	29533399	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31200412)_(31265349_?)del	NF1	Pathogenic	17	29527430	29592367	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31325800)_(31360723_?)del	NF1	Pathogenic	17	29652818	29687741	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31325800)_(31374175_?)del	NF1	Pathogenic	17	29652818	29701193	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.288+2T>C	NF1	Pathogenic	17	29486113	29486113	T	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.449del (p.Phe150fs)	NF1	Pathogenic	17	29490363	29490363	CT	C	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.1344dup (p.Lys449Ter)	NF1	Pathogenic	17	29533340	29533341	A	AT	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1525del (p.Cys509fs)	NF1	Pathogenic	17	29541599	29541599	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1618G>T (p.Glu540Ter)	NF1	Pathogenic	17	29546113	29546113	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1721+2T>G	NF1	Pathogenic	17	29548949	29548949	T	G	criteria provided, single submitter	-