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
Duplication	NC_000017.10:g.(?_29587367)_(29592377_?)dup	NF1	Pathogenic	17	29587367	29592377	na	na	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.529dup (p.Ile177fs)	NF1	Pathogenic	17	29496957	29496958	T	TA	criteria provided, single submitter	ClinGen:CA658798765
single nucleotide variant	NM_001042492.3(NF1):c.4578-19A>G	NF1	Pathogenic	17	29588710	29588710	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798806
Indel	NM_001042492.3(NF1):c.4983_4985delinsCTTA (p.Lys1661fs)	NF1	Pathogenic	17	29652985	29652987	GTG	CTTA	criteria provided, single submitter	ClinGen:CA658798767
single nucleotide variant	NM_001042492.3(NF1):c.6054T>G (p.Ser2018Arg)	NF1	Pathogenic	17	29663398	29663398	T	G	criteria provided, single submitter	ClinGen:CA399011122
single nucleotide variant	NM_001042492.3(NF1):c.1549G>T (p.Glu517Ter)	NF1	Pathogenic	17	29546044	29546044	G	T	criteria provided, single submitter	ClinGen:CA399001856
Duplication	NM_001042492.3(NF1):c.181dup (p.Ile61fs)	NF1	Pathogenic	17	29483120	29483121	T	TA	criteria provided, single submitter	ClinGen:CA658798747
single nucleotide variant	NM_001042492.3(NF1):c.288+2T>A	NF1	Pathogenic	17	29486113	29486113	T	A	criteria provided, single submitter	ClinGen:CA398989911
Deletion	NM_001042492.3(NF1):c.311_312del (p.Arg103_Leu104insTer)	NF1	Pathogenic	17	29490226	29490227	TTA	T	criteria provided, single submitter	ClinGen:CA658798755
single nucleotide variant	NM_001042492.3(NF1):c.7428T>A (p.Tyr2476Ter)	NF1	Pathogenic	17	29677307	29677307	T	A	criteria provided, single submitter	ClinGen:CA399017169