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.4333-2A>C	NF1	Pathogenic	17	29586048	29586048	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6643-2A>T	NF1	Pathogenic	17	29664835	29664835	A	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31200402)_(31265359_?)del	NF1	Pathogenic	17	29527420	29592377	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31232063)_(31249129_?)del	NF1	Pathogenic	17	29559081	29576147	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31248974)_(31374165_?)del	NF1	Pathogenic	17	29575992	29701183	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31325810)_(31374165_?)del	NF1	Pathogenic	17	29652828	29701183	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.204+2T>G	NF1	Pathogenic	17	29483146	29483146	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.288+1G>C	NF1	Pathogenic	17	29486112	29486112	G	C	criteria provided, single submitter	-
Deletion	NM_000267.3(NF1):c.2252delG	NF1	Pathogenic/Likely pathogenic	17	29554235	29554235	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2850+2T>G	NF1	Pathogenic/Likely pathogenic	17	29556485	29556485	T	G	criteria provided, multiple submitters, no conflicts	-