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.4078C>T (p.Gln1360Ter)	NF1	Pathogenic	17	29576105	29576105	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398995038
single nucleotide variant	NM_001042492.3(NF1):c.4725-1G>A	NF1	Pathogenic/Likely pathogenic	17	29592246	29592246	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399001138
Duplication	NM_001042492.3(NF1):c.6136dup (p.Val2046fs)	NF1	Pathogenic	17	29663478	29663479	T	TG	criteria provided, single submitter	ClinGen:CA658658561
single nucleotide variant	NM_001042492.3(NF1):c.6705-3C>A	NF1	Pathogenic/Likely pathogenic	17	29665040	29665040	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658588
single nucleotide variant	NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter)	NF1	Pathogenic	17	29684001	29684001	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399018381
Deletion	NM_001042492.3(NF1):c.5087del (p.Leu1696fs)	NF1	Pathogenic	17	29653089	29653089	CT	C	criteria provided, single submitter	ClinGen:CA658684011
Deletion	NM_001042492.3(NF1):c.4818_4822del (p.Phe1606fs)	NF1	Pathogenic	17	29592338	29592342	TTTTTA	T	criteria provided, single submitter	ClinGen:CA658684015
single nucleotide variant	NM_001042492.3(NF1):c.731-1G>A	NF1	Pathogenic	17	29509525	29509525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398990442
single nucleotide variant	NM_001042492.3(NF1):c.2002-1G>A	NF1	Pathogenic	17	29553452	29553452	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398981984
single nucleotide variant	NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)	NF1	Pathogenic/Likely pathogenic	17	29553614	29553614	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982396