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.3514del (p.Asp1172fs)	NF1	Pathogenic	17	29560036	29560036	AG	A	criteria provided, single submitter	ClinGen:CA10580286
single nucleotide variant	NM_001042492.3(NF1):c.3941G>A (p.Trp1314Ter)	NF1	Pathogenic	17	29563006	29563006	G	A	criteria provided, single submitter	ClinGen:CA10580301
Duplication	NM_001042492.3(NF1):c.4266dup (p.Glu1423Ter)	NF1	Pathogenic	17	29585453	29585454	A	AT	criteria provided, single submitter	ClinGen:CA10580308
single nucleotide variant	NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)	NF1	Pathogenic/Likely pathogenic	17	29586058	29586058	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580310
Duplication	NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs)	NF1	Pathogenic	17	29592335	29592336	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580326
single nucleotide variant	NM_001042492.3(NF1):c.5269-1G>A	NF1	Pathogenic	17	29654516	29654516	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580345
Duplication	NM_001042492.3(NF1):c.5730dup (p.Ile1911fs)	NF1	Pathogenic	17	29657433	29657434	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580357
single nucleotide variant	NM_001042492.3(NF1):c.5812+1G>A	NF1	Pathogenic	17	29657517	29657517	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580359
single nucleotide variant	NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)	NF1	Pathogenic/Likely pathogenic	17	29662034	29662034	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580365
Insertion	NM_001042492.3(NF1):c.6306_6307insT (p.Leu2103fs)	NF1	Pathogenic	17	29663811	29663812	C	CT	criteria provided, single submitter	ClinGen:CA10580374