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.7591C>T (p.Gln2531Ter)	NF1	Pathogenic	17	29679408	29679408	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399017811
Deletion	NM_001042492.3(NF1):c.8112_8113del (p.Ser2705fs)	NF1	Pathogenic	17	29685638	29685639	CAA	C	criteria provided, single submitter	ClinGen:CA658798794
Indel	NM_001042492.3(NF1):c.909_910delinsTT (p.Arg304Ter)	NF1	Pathogenic	17	29527460	29527461	AC	TT	criteria provided, single submitter	ClinGen:CA658798749
Duplication	NM_001042492.3(NF1):c.3094dup (p.Cys1032fs)	NF1	Pathogenic	17	29557377	29557378	A	AT	criteria provided, single submitter	ClinGen:CA658798760
single nucleotide variant	NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)	NF1	Pathogenic/Likely pathogenic	17	29559848	29559848	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989297
single nucleotide variant	NM_001042492.3(NF1):c.3468C>A (p.Asn1156Lys)	NF1	Likely pathogenic	17	29559871	29559871	C	A	criteria provided, single submitter	ClinGen:CA398989385
single nucleotide variant	NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp)	NF1	Likely pathogenic	17	29585444	29585444	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997914
single nucleotide variant	NM_001042492.3(NF1):c.3198-2A>T	NF1	Pathogenic	17	29559089	29559089	A	T	criteria provided, single submitter	ClinGen:CA398988493
Deletion	NC_000017.11:g.(?_31200416)_(31206377_?)del	NF1	Pathogenic	17	29527434	29533395	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5561del (p.Leu1854fs)	NF1	Pathogenic	17	29654809	29654809	CT	C	criteria provided, single submitter	ClinGen:CA658798791