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.3544G>T (p.Val1182Phe)	NF1	Pathogenic/Likely pathogenic	17	29560067	29560067	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989966
Deletion	NM_001042492.3(NF1):c.7034_7041del (p.Leu2345fs)	NF1	Pathogenic	17	29667634	29667641	TTTAGATAG	T	criteria provided, single submitter	ClinGen:CA658658596
single nucleotide variant	NM_001042492.3(NF1):c.7238T>A (p.Leu2413Ter)	NF1	Pathogenic	17	29676186	29676186	T	A	criteria provided, single submitter	ClinGen:CA399016749
single nucleotide variant	NM_001042492.3(NF1):c.3974+2T>C	NF1	Likely pathogenic	17	29563041	29563041	T	C	criteria provided, single submitter	ClinGen:CA398993362
Deletion	NM_001042492.3(NF1):c.4229del (p.Phe1410fs)	NF1	Pathogenic	17	29585416	29585416	GT	G	criteria provided, single submitter	ClinGen:CA658658571
single nucleotide variant	NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)	NF1	Pathogenic	17	29585422	29585422	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997834
single nucleotide variant	NM_001042492.3(NF1):c.4333-1G>A	NF1	Pathogenic	17	29586049	29586049	G	A	criteria provided, single submitter	ClinGen:CA398998669
Deletion	NM_001042492.3(NF1):c.4482_4483del (p.His1494fs)	NF1	Pathogenic	17	29587437	29587438	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658580
Deletion	NM_001042492.3(NF1):c.8066del (p.Val2689fs)	NF1	Pathogenic	17	29685593	29685593	GT	G	criteria provided, single submitter	ClinGen:CA658658608
Deletion	NM_001042492.3(NF1):c.4703del (p.Lys1568fs)	NF1	Pathogenic	17	29588852	29588852	CA	C	criteria provided, single submitter	ClinGen:CA658658585