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.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.1733T>G (p.Leu578Arg)	NF1	Likely pathogenic	17	29550473	29550473	T	G	criteria provided, single submitter	ClinGen:CA219405,UniProtKB:P21359#VAR_021736,UniProtKB/Swiss-Prot:VAR_021736
single nucleotide variant	NM_001042492.3(NF1):c.2903T>G (p.Met968Arg)	NF1	Likely pathogenic	17	29556905	29556905	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA219498,UniProtKB:P21359#VAR_021751,UniProtKB/Swiss-Prot:VAR_021751
single nucleotide variant	NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)	NF1	Likely pathogenic	17	29560110	29560110	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA219526,UniProtKB:P21359#VAR_032471,UniProtKB/Swiss-Prot:VAR_032471
single nucleotide variant	NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln)	NF1	Likely pathogenic	17	29585506	29585506	A	C	criteria provided, single submitter	ClinGen:CA219550,UniProtKB:P21359#VAR_010997,UniProtKB/Swiss-Prot:VAR_010997
single nucleotide variant	NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)	NF1	Likely pathogenic	17	29662044	29662044	G	A	criteria provided, single submitter	ClinGen:CA219619,UniProtKB:P21359#VAR_021762,UniProtKB/Swiss-Prot:VAR_021762
single nucleotide variant	NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)	NF1	Likely pathogenic	17	29527521	29527521	T	C	criteria provided, single submitter	ClinGen:CA219647,UniProtKB:P21359#VAR_032463,UniProtKB/Swiss-Prot:VAR_032463
single nucleotide variant	NM_001042492.3(NF1):c.889-1G>T	NF1	Likely pathogenic	17	29527439	29527439	G	T	criteria provided, single submitter	ClinGen:CA164555
single nucleotide variant	NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg)	NF1	Likely pathogenic	17	29556142	29556142	T	A	criteria provided, single submitter	ClinGen:CA165409
single nucleotide variant	NM_001042492.3(NF1):c.2850G>C (p.Gln950His)	NF1	Likely pathogenic	17	29556483	29556483	G	C	criteria provided, single submitter	ClinGen:CA337604