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.8009C>A (p.Ser2670Ter)	NF1	Pathogenic	17	29685536	29685536	C	A	criteria provided, single submitter	ClinGen:CA399203665
Duplication	NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter)	NF1	Pathogenic	17	29685515	29685516	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645572290
single nucleotide variant	NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter)	NF1	Pathogenic	17	29685509	29685509	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)	NF1	Likely pathogenic	17	29685499	29685499	C	T	criteria provided, single submitter	ClinGen:CA399203584
single nucleotide variant	NM_001042492.3(NF1):c.7970+5G>T	NF1	Likely pathogenic	17	29684392	29684392	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.7970+2dup	NF1	Likely pathogenic	17	29684388	29684389	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7970+1G>A	NF1	Pathogenic	17	29684388	29684388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399203571
Insertion	NM_000267.3(NF1):c.7901_7902ins11 (p.?)	NF1	Pathogenic	17	29684381	29684382	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7964del (p.Pro2655fs)	NF1	Pathogenic	17	29684380	29684380	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.7959del (p.Pro2655fs)	NF1	Pathogenic	17	29684376	29684376	TC	T	criteria provided, single submitter	-