神経線維腫症I型

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NM_001042492.3(NF1):c.3897del (p.Lys1299fs)	NF1	Pathogenic	17	29562958	29562958	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583499
single nucleotide variant	NM_001042492.3(NF1):c.4318A>G (p.Lys1440Glu)	NF1	Pathogenic	17	29585506	29585506	A	G	criteria provided, single submitter	ClinGen:CA10583501
single nucleotide variant	NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)	NF1	Pathogenic	17	29586086	29586086	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583502
Duplication	NM_001042492.3(NF1):c.4483dup (p.Ser1495fs)	NF1	Pathogenic	17	29587438	29587439	T	TA	criteria provided, single submitter	ClinGen:CA10583505
single nucleotide variant	NM_001042492.3(NF1):c.4836-10T>G	NF1	Pathogenic	17	29652828	29652828	T	G	criteria provided, single submitter	ClinGen:CA10583509
single nucleotide variant	NM_001042492.3(NF1):c.5561T>G (p.Leu1854Arg)	NF1	Pathogenic	17	29654809	29654809	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583513
single nucleotide variant	NM_001042492.3(NF1):c.5671C>T (p.Gln1891Ter)	NF1	Pathogenic	17	29657375	29657375	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583514
Deletion	NM_001042492.3(NF1):c.7581del (p.Gln2528fs)	NF1	Pathogenic/Likely pathogenic	17	29679395	29679395	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583527
Duplication	NM_001042492.3(NF1):c.7931dup (p.Glu2645fs)	NF1	Pathogenic	17	29684347	29684348	G	GC	criteria provided, single submitter	ClinGen:CA10583528
Insertion	NM_000267.3(NF1):c.129_130ins568 (p.?)	NF1	Pathogenic	17	29483069	29483070	na	na	criteria provided, single submitter	-