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
Duplication	NM_001042492.3(NF1):c.2969_2970dup (p.Met991fs)	NF1	Pathogenic	17	29556969	29556970	A	AAC	criteria provided, single submitter	ClinGen:CA658656554
Deletion	NM_001042492.3(NF1):c.5833del (p.Cys1945fs)	NF1	Pathogenic/Likely pathogenic	17	29661874	29661874	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658556
Duplication	NM_001042492.3(NF1):c.6090dup (p.Met2031fs)	NF1	Pathogenic	17	29663433	29663434	T	TG	criteria provided, single submitter	ClinGen:CA658658560
Deletion	NM_001042492.3(NF1):c.3075del (p.Arg1026fs)	NF1	Pathogenic	17	29557361	29557361	AG	A	criteria provided, single submitter	ClinGen:CA658656560
single nucleotide variant	NM_001042492.3(NF1):c.6427G>A (p.Glu2143Lys)	NF1	Pathogenic	17	29663932	29663932	G	A	criteria provided, single submitter	ClinGen:CA399012971
single nucleotide variant	NM_001042492.3(NF1):c.6705-1G>A	NF1	Pathogenic	17	29665042	29665042	G	A	criteria provided, single submitter	ClinGen:CA399013972
single nucleotide variant	NM_001042492.3(NF1):c.6819+3A>G	NF1	Pathogenic	17	29665160	29665160	A	G	criteria provided, single submitter	ClinGen:CA645572248
single nucleotide variant	NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)	NF1	Pathogenic	17	29559170	29559170	G	A	criteria provided, single submitter	ClinGen:CA398988856
single nucleotide variant	NM_001042492.3(NF1):c.3497-1G>A	NF1	Pathogenic/Likely pathogenic	17	29560019	29560019	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989602
Deletion	NM_001042492.3(NF1):c.6855del (p.Thr2284_Tyr2285insTer)	NF1	Pathogenic	17	29665757	29665757	AC	A	criteria provided, single submitter	ClinGen:CA658658591