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.6796C>T (p.Gln2266Ter)	NF1	Pathogenic	17	29665134	29665134	C	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1801_1803del (p.Arg601del)	NF1	Likely pathogenic	17	29550540	29550542	TGCG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2325+1G>A	NF1	Pathogenic	17	29554310	29554310	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2T>A (p.Met1Lys)	NF1	Pathogenic/Likely pathogenic	17	29422329	29422329	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.188del (p.Lys63fs)	NF1	Pathogenic/Likely pathogenic	17	29483126	29483126	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.205-1G>C	NF1	Pathogenic	17	29486027	29486027	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.586+1G>A	NF1	Pathogenic	17	29497016	29497016	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.655-2A>C	NF1	Pathogenic/Likely pathogenic	17	29508726	29508726	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)	NF1	Pathogenic/Likely pathogenic	17	29508740	29508740	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.730+1G>T	NF1	Pathogenic/Likely pathogenic	17	29508804	29508804	G	T	criteria provided, multiple submitters, no conflicts	-