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.4231C>T (p.Leu1411Phe)	NF1	Pathogenic/Likely pathogenic	17	29585419	29585419	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA129599,UniProtKB/Swiss-Prot:VAR_065236,OMIM:613113.0045
single nucleotide variant	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1	Pathogenic	17	29497003	29497003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325787,OMIM:613113.0046
copy number loss	GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1	NF1	Pathogenic	17	29550192	29573353	na	na	criteria provided, single submitter	dbVar:nssv577600
single nucleotide variant	NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)	NF1	Pathogenic/Likely pathogenic	17	29527564	29527564	A	G	criteria provided, multiple submitters, no conflicts	UniProtKB/Swiss-Prot:VAR_010990,ClinGen:CA219374,UniProtKB:P21359#VAR_010990
single nucleotide variant	NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)	NF1	Pathogenic/Likely pathogenic	17	29548872	29548872	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219401,UniProtKB:P21359#VAR_021735,UniProtKB/Swiss-Prot:VAR_021735
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.1748A>G (p.Lys583Arg)	NF1	Pathogenic/Likely pathogenic	17	29550488	29550488	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA219413,UniProtKB:P21359#VAR_021738,UniProtKB/Swiss-Prot:VAR_021738
single nucleotide variant	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1	Pathogenic	17	29552152	29552152	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165914,UniProtKB:P21359#VAR_002653,UniProtKB/Swiss-Prot:VAR_002653
single nucleotide variant	NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)	NF1	Pathogenic/Likely pathogenic	17	29553535	29553535	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219421,UniProtKB:P21359#VAR_021740,UniProtKB/Swiss-Prot:VAR_021740
single nucleotide variant	NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)	NF1	Pathogenic/Likely pathogenic	17	29554272	29554272	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA192983,UniProtKB:P21359#VAR_021741,UniProtKB/Swiss-Prot:VAR_021741