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.6970C>T (p.Gln2324Ter)	NF1	Pathogenic	17	29667571	29667571	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399014940
Deletion	NM_001042492.3(NF1):c.7028_7031del (p.His2343fs)	NF1	Pathogenic	17	29667628	29667631	GCATA	G	criteria provided, single submitter	ClinGen:CA645369730
single nucleotide variant	NM_001042492.3(NF1):c.7063-1G>T	NF1	Pathogenic	17	29670026	29670026	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399015498
Deletion	NM_001042492.3(NF1):c.7102del (p.Glu2368fs)	NF1	Pathogenic	17	29670065	29670065	TG	T	criteria provided, single submitter	ClinGen:CA645369652
Deletion	NM_001042492.3(NF1):c.7195del (p.Arg2399fs)	NF1	Pathogenic	17	29676143	29676143	CA	C	criteria provided, single submitter	ClinGen:CA645369728
Deletion	NM_001042492.3(NF1):c.7322del (p.Ala2441fs)	NF1	Pathogenic	17	29677201	29677201	GC	G	criteria provided, single submitter	ClinGen:CA645369732
Duplication	NM_001042492.3(NF1):c.7422dup (p.Thr2475fs)	NF1	Pathogenic	17	29677300	29677301	A	AT	criteria provided, single submitter	ClinGen:CA645369733
Deletion	NM_001042492.3(NF1):c.7606_7615+1del	NF1	Pathogenic	17	29679422	29679432	AGAAGTTGCTTG	A	criteria provided, single submitter	ClinGen:CA645369731
single nucleotide variant	NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)	NF1	Pathogenic	17	29683999	29683999	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399018374
Duplication	NM_001042492.3(NF1):c.7838dup (p.Lys2614fs)	NF1	Pathogenic	17	29684075	29684076	T	TC	criteria provided, single submitter	ClinGen:CA645369729