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
single nucleotide variant	NM_001042492.3(NF1):c.2534G>A (p.Cys845Tyr)	NF1	Pathogenic	17	29556167	29556167	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615183
Duplication	NM_001042492.3(NF1):c.2729dup (p.Leu911fs)	NF1	Pathogenic	17	29556359	29556360	T	TG	criteria provided, single submitter	ClinGen:CA16615187
single nucleotide variant	NM_001042492.3(NF1):c.2991-1G>A	NF1	Pathogenic	17	29557277	29557277	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615188
single nucleotide variant	NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter)	NF1	Pathogenic	17	29562683	29562683	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615194
Duplication	NM_001042492.3(NF1):c.3250_3251dup (p.Gln1086fs)	NF1	Pathogenic	17	29559141	29559142	T	TCC	criteria provided, single submitter	ClinGen:CA16615196
single nucleotide variant	NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	NF1	Pathogenic	17	29562981	29562981	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615197
single nucleotide variant	NM_001042492.3(NF1):c.3975-1G>T	NF1	Pathogenic	17	29576001	29576001	G	T	criteria provided, single submitter	ClinGen:CA16615200
single nucleotide variant	NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)	NF1	Pathogenic/Likely pathogenic	17	29585520	29585520	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615213
single nucleotide variant	NM_001042492.3(NF1):c.3623T>A (p.Leu1208Ter)	NF1	Pathogenic	17	29560146	29560146	T	A	criteria provided, single submitter	ClinGen:CA16615224
Deletion	NM_001042492.3(NF1):c.3639_3641del (p.Met1215del)	NF1	Pathogenic	17	29560162	29560164	CAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615228