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.1135T>C (p.Cys379Arg)	NF1	Pathogenic/Likely pathogenic	17	29528127	29528127	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615433
single nucleotide variant	NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	NF1	Pathogenic	17	29528489	29528489	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8485718
single nucleotide variant	NM_001042492.3(NF1):c.1527+1G>T	NF1	Pathogenic	17	29541604	29541604	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615446
Deletion	NM_001042492.3(NF1):c.2071del (p.Leu691fs)	NF1	Pathogenic	17	29553520	29553520	GC	G	criteria provided, single submitter	ClinGen:CA16615455
single nucleotide variant	NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter)	NF1	Pathogenic	17	29556481	29556481	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615471
Deletion	NM_001042492.3(NF1):c.3567del (p.Gly1190fs)	NF1	Pathogenic	17	29560089	29560089	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615494
Deletion	NC_000017.11:g.(?_31327499)_(31327839_?)del	NF1	Pathogenic	17	29654517	29654857	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3986C>A (p.Ser1329Ter)	NF1	Pathogenic	17	29576013	29576013	C	A	criteria provided, single submitter	ClinGen:CA16615504
Duplication	NM_001042492.3(NF1):c.4293_4294dup (p.Pro1432fs)	NF1	Pathogenic	17	29585479	29585480	C	CCA	criteria provided, single submitter	ClinGen:CA16615521
Deletion	NM_001042492.3(NF1):c.4622_4636del (p.Thr1541_Leu1546delinsMet)	NF1	Pathogenic	17	29588773	29588787	ACACTTCTTGCATACC	A	criteria provided, single submitter	ClinGen:CA16615526