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.1A>G (p.Met1Val)	NF1	Pathogenic	17	29422328	29422328	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615129
Deletion	NM_001042492.3(NF1):c.99del (p.Val34fs)	NF1	Pathogenic	17	29483037	29483037	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615134
Deletion	NM_001042492.3(NF1):c.288+1del	NF1	Pathogenic	17	29486109	29486109	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16044136
single nucleotide variant	NM_001042492.3(NF1):c.586+5G>A	NF1	Likely pathogenic	17	29497020	29497020	G	A	criteria provided, single submitter	ClinGen:CA16615148
single nucleotide variant	NM_001042492.3(NF1):c.1063-2A>G	NF1	Pathogenic	17	29528053	29528053	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615156
Duplication	NM_001042492.3(NF1):c.1343dup (p.His448fs)	NF1	Pathogenic	17	29533339	29533340	C	CA	criteria provided, single submitter	ClinGen:CA16615160
Insertion	NM_001042492.3(NF1):c.1469_1470insTTAT (p.Lys490fs)	NF1	Pathogenic	17	29541545	29541546	A	ATTAT	criteria provided, single submitter	ClinGen:CA16615161
single nucleotide variant	NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter)	NF1	Pathogenic	17	29550466	29550466	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615167
Duplication	NM_001042492.3(NF1):c.2619dup (p.Lys874Ter)	NF1	Pathogenic	17	29556251	29556252	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615175
single nucleotide variant	NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg)	NF1	Pathogenic	17	29556166	29556166	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615181