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.910C>T (p.Arg304Ter)	NF1	Pathogenic	17	29527461	29527461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA198406
Deletion	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Pathogenic	17	29550494	29550497	TTAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194177
Deletion	NM_001042492.3(NF1):c.2178del (p.Ser727fs)	NF1	Pathogenic	17	29553629	29553629	TG	T	criteria provided, single submitter	ClinGen:CA194822
single nucleotide variant	NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter)	NF1	Pathogenic	17	29559101	29559101	C	T	criteria provided, single submitter	ClinGen:CA191414
Deletion	NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)	NF1	Pathogenic	17	29559859	29559862	TACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA193510
Duplication	NM_001042492.3(NF1):c.3821dup (p.Phe1275fs)	NF1	Pathogenic	17	29562740	29562741	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA197248
Insertion	NM_001042492.3(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302fs)	NF1	Pathogenic	17	29562967	29562968	T	TTTATTACGAATTG	criteria provided, single submitter	ClinGen:CA196824
single nucleotide variant	NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	NF1	Pathogenic	17	29654857	29654857	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA191710
single nucleotide variant	NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)	NF1	Pathogenic	17	29657486	29657486	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA198197
Deletion	NM_001042492.3(NF1):c.6520_6538del (p.Ala2174fs)	NF1	Pathogenic	17	29664477	29664495	CTGCTGTCATTGCCTTCCGT	C	criteria provided, single submitter	ClinGen:CA197890