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
Deletion	NM_001042492.3(NF1):c.908del (p.Leu303fs)	NF1	Pathogenic	17	29527459	29527459	CT	C	criteria provided, single submitter	ClinGen:CA658656562
Deletion	NM_001042492.3(NF1):c.1183_1185+2del	NF1	Pathogenic/Likely pathogenic	17	29528174	29528178	TTAAGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656577
single nucleotide variant	NM_001042492.3(NF1):c.1186-1G>C	NF1	Pathogenic/Likely pathogenic	17	29528428	29528428	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997403
single nucleotide variant	NM_001042492.3(NF1):c.1392+2T>C	NF1	Pathogenic	17	29533391	29533391	T	C	criteria provided, single submitter	ClinGen:CA398999983
Deletion	NM_001042492.3(NF1):c.1527+4_1527+7del	NF1	Pathogenic/Likely pathogenic	17	29541604	29541607	TGTAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645571236
single nucleotide variant	NM_001042492.3(NF1):c.1641+1G>A	NF1	Pathogenic/Likely pathogenic	17	29546137	29546137	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399002191
Duplication	NM_001042492.3(NF1):c.2064dup (p.Val689fs)	NF1	Pathogenic	17	29553513	29553514	G	GA	criteria provided, single submitter	ClinGen:CA658656604
Duplication	NM_001042492.3(NF1):c.2866dup (p.Thr956fs)	NF1	Pathogenic	17	29556867	29556868	T	TA	criteria provided, single submitter	ClinGen:CA658656547
single nucleotide variant	NM_001042492.3(NF1):c.3114-2A>G	NF1	Likely pathogenic	17	29557858	29557858	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987821
single nucleotide variant	NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter)	NF1	Pathogenic	17	29557890	29557890	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398987993