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
Deletion	NM_001042492.3(NF1):c.4966del (p.Thr1656fs)	NF1	Pathogenic	17	29652965	29652965	TA	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4989del (p.Phe1663fs)	NF1	Pathogenic	17	29652989	29652989	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5192T>A (p.Leu1731Ter)	NF1	Pathogenic	17	29653194	29653194	T	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5347del (p.Tyr1783fs)	NF1	Pathogenic	17	29654593	29654593	AT	A	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.5376_5379dup (p.Val1794fs)	NF1	Pathogenic	17	29654623	29654624	G	GCCTA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2410-16A>G	NF1	Pathogenic/Likely pathogenic	17	29556027	29556027	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.6316_6359dup (p.Ala2120_Ser2121insLeuLeuLeuSerTer)	NF1	Pathogenic	17	29663819	29663820	A	ACGTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAG	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg)	NF1	Pathogenic	17	29556173	29556173	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly)	NF1	Pathogenic	17	29556250	29556250	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.7188del (p.Tyr2398fs)	NF1	Pathogenic	17	29670149	29670149	TA	T	criteria provided, multiple submitters, no conflicts	-