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
Indel	NM_001042492.3(NF1):c.4849_4853delinsATATCAG (p.Gln1617fs)	NF1	Pathogenic	17	29652851	29652855	CAAAT	ATATCAG	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.4872dup (p.Tyr1625fs)	NF1	Pathogenic	17	29652873	29652874	T	TA	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4957_4964del (p.Arg1653fs)	NF1	Pathogenic	17	29652959	29652966	TCGCTTTAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5049C>G (p.Asn1683Lys)	NF1	Likely pathogenic	17	29653051	29653051	C	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5286_5289del (p.Val1762_Gln1763insTer)	NF1	Pathogenic	17	29654534	29654537	TCCAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5315T>A (p.Val1772Asp)	NF1	Pathogenic	17	29654563	29654563	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter)	NF1	Pathogenic	17	29654616	29654616	G	T	criteria provided, single submitter	-
Insertion	NM_001042492.3(NF1):c.5469_5470insTT (p.Ile1824fs)	NF1	Pathogenic	17	29654716	29654717	C	CTT	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5494del (p.Glu1832fs)	NF1	Pathogenic	17	29654740	29654740	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter)	NF1	Pathogenic	17	29654749	29654749	C	G	criteria provided, multiple submitters, no conflicts	-