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.996_999del (p.Tyr333fs)	NF1	Pathogenic	17	29527544	29527547	GTACT	G	criteria provided, single submitter	ClinGen:CA658656568
Duplication	NM_001042492.3(NF1):c.7745dup (p.Arg2583fs)	NF1	Pathogenic	17	29683983	29683984	C	CA	criteria provided, single submitter	ClinGen:CA658658605
single nucleotide variant	NM_001042492.3(NF1):c.1721+1G>A	NF1	Pathogenic	17	29548948	29548948	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399002391
Deletion	NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer)	NF1	Pathogenic	17	29652892	29652892	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658544
single nucleotide variant	NM_001042492.3(NF1):c.2252-1G>A	NF1	Pathogenic	17	29554235	29554235	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982655
Deletion	NM_001042492.3(NF1):c.5586del (p.Gly1863fs)	NF1	Pathogenic	17	29654834	29654834	TA	T	criteria provided, single submitter	ClinGen:CA658658552
single nucleotide variant	NM_001042492.3(NF1):c.5610-2A>G	NF1	Pathogenic	17	29657312	29657312	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010085
single nucleotide variant	NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)	NF1	Pathogenic	17	29556170	29556170	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398984227
Duplication	NM_001042492.3(NF1):c.2710dup (p.Cys904fs)	NF1	Pathogenic	17	29556342	29556343	G	GT	criteria provided, single submitter	ClinGen:CA658656625
Deletion	NM_001042492.3(NF1):c.2802del (p.Phe934fs)	NF1	Pathogenic	17	29556433	29556433	AT	A	criteria provided, single submitter	ClinGen:CA658656545