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.334C>T (p.Gln112Ter)	NF1	Pathogenic	17	29490249	29490249	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398981725
Deletion	NM_001042492.3(NF1):c.551del (p.Asn184fs)	NF1	Pathogenic	17	29496979	29496979	CA	C	criteria provided, single submitter	ClinGen:CA645509500
single nucleotide variant	NM_001042492.3(NF1):c.654+1G>A	NF1	Pathogenic	17	29508508	29508508	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989532
Deletion	NM_001042492.3(NF1):c.731-1_731del	NF1	Pathogenic	17	29509524	29509525	CAG	C	criteria provided, single submitter	ClinGen:CA645509501
single nucleotide variant	NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter)	NF1	Pathogenic	17	29527560	29527560	G	T	criteria provided, single submitter	ClinGen:CA398996273
single nucleotide variant	NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)	NF1	Pathogenic	17	29528086	29528086	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398996822
Deletion	NM_001042492.3(NF1):c.1178del (p.His393fs)	NF1	Pathogenic	17	29528170	29528170	CA	C	criteria provided, single submitter	ClinGen:CA645509502
single nucleotide variant	NM_001042492.3(NF1):c.1185+2T>G	NF1	Pathogenic	17	29528179	29528179	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997367
Deletion	NM_001042492.3(NF1):c.2077_2078del (p.Met693fs)	NF1	Pathogenic	17	29553528	29553529	CAT	C	criteria provided, single submitter	ClinGen:CA645509503
single nucleotide variant	NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)	NF1	Pathogenic/Likely pathogenic	17	29554546	29554546	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398983015