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_000267.3(NF1):c.5206delG	NF1	Pathogenic	17	29654516	29654516	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798779
Deletion	NM_001042492.3(NF1):c.4260_4261del (p.Pro1421fs)	NF1	Pathogenic	17	29585447	29585448	TCA	T	criteria provided, single submitter	ClinGen:CA658798798
Deletion	NM_001042492.3(NF1):c.4684del (p.Asn1563fs)	NF1	Pathogenic	17	29588834	29588834	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645582466
Duplication	NM_001042492.3(NF1):c.5247dup (p.Asp1750fs)	NF1	Pathogenic/Likely pathogenic	17	29653246	29653247	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645596481
Duplication	NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)	NF1	Pathogenic/Likely pathogenic	17	29588819	29588820	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798807
single nucleotide variant	NM_001042492.3(NF1):c.5657T>A (p.Leu1886Ter)	NF1	Pathogenic	17	29657361	29657361	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010189
Deletion	NM_001042492.3(NF1):c.7274del (p.Asn2425fs)	NF1	Pathogenic	17	29676220	29676220	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798781
Deletion	NM_001042492.3(NF1):c.663del (p.Phe220_Trp221insTer)	NF1	Pathogenic	17	29508735	29508735	TG	T	criteria provided, single submitter	ClinGen:CA658798745
single nucleotide variant	NM_001042492.3(NF1):c.730+1G>A	NF1	Pathogenic	17	29508804	29508804	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398990261
single nucleotide variant	NM_001042492.3(NF1):c.1527+1G>A	NF1	Pathogenic	17	29541604	29541604	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399001711