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.3104T>A (p.Met1035Lys)	NF1	Pathogenic/Likely pathogenic	17	29557391	29557391	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3158C>G (p.Ser1053Ter)	NF1	Pathogenic	17	29557904	29557904	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.3186dup (p.Cys1063fs)	NF1	Pathogenic	17	29557928	29557929	T	TA	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3212del (p.Ala1071fs)	NF1	Pathogenic	17	29559105	29559105	GC	G	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.3370dup (p.Ser1124fs)	NF1	Pathogenic	17	29559770	29559771	G	GA	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.3402_3405dup (p.Arg1136fs)	NF1	Pathogenic	17	29559803	29559804	A	ATGTC	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3446T>C (p.Met1149Thr)	NF1	Pathogenic	17	29559849	29559849	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.3447_3448dup (p.Ser1150fs)	NF1	Pathogenic	17	29559848	29559849	A	ATG	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.3456dup (p.Leu1153fs)	NF1	Pathogenic	17	29559858	29559859	T	TA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.3461dup (p.Asn1154fs)	NF1	Pathogenic	17	29559862	29559863	C	CA	criteria provided, single submitter	-