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.3871-2A>G	NF1	Pathogenic	17	29562934	29562934	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398992973
single nucleotide variant	NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter)	NF1	Pathogenic	17	29576091	29576091	C	G	criteria provided, single submitter	ClinGen:CA398995007
single nucleotide variant	NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)	NF1	Pathogenic	17	29585383	29585383	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997588
single nucleotide variant	NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)	NF1	Pathogenic/Likely pathogenic	17	29586057	29586057	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998698
Deletion	NM_001042492.3(NF1):c.4627del (p.Ala1544fs)	NF1	Pathogenic	17	29588778	29588778	TC	T	criteria provided, single submitter	ClinGen:CA625477256
single nucleotide variant	NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter)	NF1	Pathogenic	17	29588786	29588786	C	A	criteria provided, single submitter	ClinGen:CA399000300
Deletion	NM_001042492.3(NF1):c.4765del (p.Thr1589fs)	NF1	Pathogenic	17	29592284	29592284	GA	G	criteria provided, single submitter	ClinGen:CA645369647
single nucleotide variant	NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr)	NF1	Likely pathogenic	17	29652932	29652932	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399007133
single nucleotide variant	NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)	NF1	Pathogenic/Likely pathogenic	17	29654559	29654559	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399009069
Deletion	NM_001042492.3(NF1):c.5327del (p.Gln1775_Ser1776insTer)	NF1	Pathogenic	17	29654575	29654575	TC	T	criteria provided, single submitter	ClinGen:CA645369648