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.2002-4_2010del	NF1	Likely pathogenic	17	29553449	29553461	CTCAGGATAGTGCA	C	criteria provided, single submitter	ClinGen:CA10583478
single nucleotide variant	NM_001042492.3(NF1):c.2352G>A (p.Trp784Ter)	NF1	Pathogenic	17	29554567	29554567	G	A	criteria provided, single submitter	ClinGen:CA10583483
Deletion	NM_001042492.3(NF1):c.2409+2del	NF1	Pathogenic	17	29554626	29554626	GT	G	criteria provided, single submitter	ClinGen:CA10583484
Duplication	NM_001042492.3(NF1):c.2604dup (p.Pro869fs)	NF1	Pathogenic	17	29556236	29556237	G	GT	criteria provided, single submitter	ClinGen:CA10583486
single nucleotide variant	NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg)	NF1	Pathogenic	17	29557333	29557333	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583489
Deletion	NM_001042492.3(NF1):c.3064del (p.Val1021_Met1022insTer)	NF1	Pathogenic	17	29557350	29557350	TA	T	criteria provided, single submitter	ClinGen:CA10583490
single nucleotide variant	NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)	NF1	Likely pathogenic	17	29560025	29560025	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583493
single nucleotide variant	NM_001042492.3(NF1):c.3565C>T (p.Gln1189Ter)	NF1	Pathogenic	17	29560088	29560088	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583494
single nucleotide variant	NM_001042492.3(NF1):c.3656G>T (p.Gly1219Val)	NF1	Pathogenic	17	29560179	29560179	G	T	criteria provided, single submitter	ClinGen:CA10583495
single nucleotide variant	NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	NF1	Pathogenic	17	29562746	29562746	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8486236