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.1466A>G (p.Tyr489Cys)	NF1	Pathogenic	17	29541542	29541542	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA325499,UniProtKB:P21359#VAR_032465,OMIM:613113.0023
single nucleotide variant	NM_001042492.3(NF1):c.1260+1G>A	NF1	Pathogenic	17	29528504	29528504	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA251471,OMIM:613113.0025
single nucleotide variant	NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)	NF1	Pathogenic	17	29576048	29576048	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325503,OMIM:613113.0026
single nucleotide variant	NM_001042492.3(NF1):c.6007-5A>G	NF1	Pathogenic	17	29663346	29663346	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA212551,OMIM:613113.0029
single nucleotide variant	NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)	NF1	Pathogenic	17	29562641	29562641	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165261,OMIM:613113.0031
Deletion	NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	NF1	Pathogenic/Likely pathogenic	17	29556972	29556974	CAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA114186,OMIM:613113.0033
Deletion	NM_001042492.3(NF1):c.3784del (p.Ser1262fs)	NF1	Pathogenic	17	29562701	29562701	GT	G	criteria provided, multiple submitters, no conflicts	OMIM:613113.0037
single nucleotide variant	NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)	NF1	Pathogenic/Likely pathogenic	17	29528062	29528062	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA212552,UniProtKB:P21359#VAR_021733,OMIM:613113.0038
single nucleotide variant	NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)	NF1	Likely pathogenic	17	29562648	29562648	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA251473,UniProtKB:P21359#VAR_032472,OMIM:613113.0041
single nucleotide variant	NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg)	NF1	Pathogenic	17	29556164	29556164	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251482,UniProtKB:P21359#VAR_002654,OMIM:613113.0043