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.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.3578T>G (p.Phe1193Cys)	NF1	Pathogenic	17	29560101	29560101	T	G	criteria provided, single submitter	ClinGen:CA219522,UniProtKB:P21359#VAR_021754,UniProtKB/Swiss-Prot:VAR_021754
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.3610C>G (p.Arg1204Gly)	NF1	Pathogenic/Likely pathogenic	17	29560133	29560133	C	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P21359#VAR_021755,UniProtKB/Swiss-Prot:VAR_021755,ClinGen:CA219530
single nucleotide variant	NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)	NF1	Pathogenic/Likely pathogenic	17	29560133	29560133	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA219534,UniProtKB:P21359#VAR_010994,UniProtKB/Swiss-Prot:VAR_010994
single nucleotide variant	NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)	NF1	Pathogenic/Likely pathogenic	17	29562746	29562746	C	G	criteria provided, multiple submitters, no conflicts	UniProtKB/Swiss-Prot:VAR_032473,ClinGen:CA219542,UniProtKB:P21359#VAR_032473
single nucleotide variant	NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	NF1	Pathogenic	17	29562747	29562747	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219546,UniProtKB:P21359#VAR_017555,UniProtKB/Swiss-Prot:VAR_017555
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.4331A>G (p.Lys1444Arg)	NF1	Pathogenic	17	29585519	29585519	A	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P21359#VAR_021758,UniProtKB/Swiss-Prot:VAR_021758,ClinGen:CA219558
single nucleotide variant	NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn)	NF1	Pathogenic/Likely pathogenic	17	29585520	29585520	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA219562,UniProtKB:P21359#VAR_021757,UniProtKB/Swiss-Prot:VAR_021757