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.1354C>T (p.Gln452Ter)	NF1	Pathogenic	17	29533351	29533351	C	T	criteria provided, single submitter	ClinGen:CA398999651
single nucleotide variant	NM_001042492.3(NF1):c.1912G>T (p.Gly638Ter)	NF1	Pathogenic	17	29552179	29552179	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399005278
single nucleotide variant	NM_001042492.3(NF1):c.2062G>T (p.Glu688Ter)	NF1	Pathogenic	17	29553513	29553513	G	T	criteria provided, single submitter	ClinGen:CA398982133
single nucleotide variant	NM_001042492.3(NF1):c.2251+1G>C	NF1	Pathogenic/Likely pathogenic	17	29553703	29553703	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982597
Deletion	NM_001042492.3(NF1):c.2668_2677del (p.Pro890fs)	NF1	Pathogenic	17	29556299	29556308	ACACCTGTCAG	A	criteria provided, single submitter	ClinGen:CA658798750
Deletion	NM_001042492.3(NF1):c.3043del (p.Leu1015fs)	NF1	Pathogenic	17	29557330	29557330	AC	A	criteria provided, single submitter	ClinGen:CA645578896
single nucleotide variant	NM_001042492.3(NF1):c.3644T>G (p.Met1215Arg)	NF1	Pathogenic	17	29560167	29560167	T	G	criteria provided, single submitter	ClinGen:CA398990428
single nucleotide variant	NM_001042492.3(NF1):c.3707G>A (p.Trp1236Ter)	NF1	Pathogenic	17	29560230	29560230	G	A	criteria provided, single submitter	ClinGen:CA398990770
single nucleotide variant	NM_001042492.3(NF1):c.4174-1G>A	NF1	Pathogenic	17	29585361	29585361	G	A	criteria provided, single submitter	ClinGen:CA398997472
single nucleotide variant	NM_001042492.3(NF1):c.4371A>C (p.Lys1457Asn)	NF1	Pathogenic	17	29586088	29586088	A	C	criteria provided, single submitter	ClinGen:CA398998807