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	NM_001042492.3(NF1):c.6993_7008del (p.Ser2332fs)	NF1	Pathogenic	17	29667593	29667608	TATTCAGCAGGTACCGC	T	criteria provided, single submitter	ClinGen:CA658658595
Deletion	NM_001042492.3(NF1):c.7110_7111del (p.His2370fs)	NF1	Pathogenic	17	29670074	29670075	ACT	A	criteria provided, single submitter	ClinGen:CA658658598
Deletion	NM_001042492.3(NF1):c.7496del (p.Gly2499fs)	NF1	Pathogenic	17	29679312	29679312	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658604
single nucleotide variant	NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)	NF1	Pathogenic/Likely pathogenic	17	29679326	29679326	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399017538
single nucleotide variant	NM_001042492.3(NF1):c.7765C>T (p.Gln2589Ter)	NF1	Pathogenic	17	29684004	29684004	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399018390
single nucleotide variant	NM_001042492.3(NF1):c.7869+1G>A	NF1	Pathogenic	17	29684109	29684109	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399018721
single nucleotide variant	NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)	NF1	Likely pathogenic	17	29657448	29657448	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010381
Deletion	NM_001042492.3(NF1):c.6334del (p.Ala2112fs)	NF1	Pathogenic	17	29663839	29663839	AG	A	criteria provided, single submitter	ClinGen:CA658658563
Deletion	NM_001042492.3(NF1):c.1255del (p.Thr419fs)	NF1	Pathogenic	17	29528498	29528498	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656579
single nucleotide variant	NM_001042492.3(NF1):c.2002-2A>C	NF1	Pathogenic/Likely pathogenic	17	29553451	29553451	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398981981