神経線維腫症I型

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.586+5G>A	NF1	Likely pathogenic	17	29497020	29497020	G	A	criteria provided, single submitter	ClinGen:CA16615148
Deletion	NM_001042492.3(NF1):c.68del (p.Ile23fs)	NF1	Likely pathogenic	17	29483008	29483008	AT	A	criteria provided, single submitter	ClinGen:CA16043520
single nucleotide variant	NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)	NF1	Likely pathogenic	17	29560025	29560025	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583493
Deletion	NM_001042492.3(NF1):c.2002-4_2010del	NF1	Likely pathogenic	17	29553449	29553461	CTCAGGATAGTGCA	C	criteria provided, single submitter	ClinGen:CA10583478
single nucleotide variant	NM_001042492.3(NF1):c.1528-1G>A	NF1	Likely pathogenic	17	29546022	29546022	G	A	criteria provided, single submitter	ClinGen:CA10580223
single nucleotide variant	NM_001042492.3(NF1):c.2850G>C (p.Gln950His)	NF1	Likely pathogenic	17	29556483	29556483	G	C	criteria provided, single submitter	ClinGen:CA337604
single nucleotide variant	NM_001042492.3(NF1):c.2509T>A (p.Trp837Arg)	NF1	Likely pathogenic	17	29556142	29556142	T	A	criteria provided, single submitter	ClinGen:CA165409
single nucleotide variant	NM_001042492.3(NF1):c.889-1G>T	NF1	Likely pathogenic	17	29527439	29527439	G	T	criteria provided, single submitter	ClinGen:CA164555
single nucleotide variant	NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)	NF1	Likely pathogenic	17	29527521	29527521	T	C	criteria provided, single submitter	ClinGen:CA219647,UniProtKB:P21359#VAR_032463,UniProtKB/Swiss-Prot:VAR_032463
single nucleotide variant	NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)	NF1	Likely pathogenic	17	29662044	29662044	G	A	criteria provided, single submitter	ClinGen:CA219619,UniProtKB:P21359#VAR_021762,UniProtKB/Swiss-Prot:VAR_021762