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.4430+2T>C	NF1	Likely pathogenic	17	29586149	29586149	T	C	criteria provided, single submitter	ClinGen:CA398999022
Deletion	NM_001042492.3(NF1):c.4438del (p.Asp1481fs)	NF1	Pathogenic	17	29587393	29587393	TC	T	criteria provided, single submitter	ClinGen:CA658798801
Deletion	NM_001042492.3(NF1):c.4770_4777del (p.Leu1590fs)	NF1	Pathogenic	17	29592290	29592297	GTTAAGTAT	G	criteria provided, single submitter	ClinGen:CA658798809
Deletion	NM_001042492.3(NF1):c.5786del (p.Glu1929fs)	NF1	Pathogenic	17	29657490	29657490	GA	G	criteria provided, single submitter	ClinGen:CA658798796
Deletion	NM_001042492.3(NF1):c.6275del (p.Asn2092fs)	NF1	Pathogenic	17	29663779	29663779	CA	C	criteria provided, single submitter	ClinGen:CA658798804
Insertion	NM_001042492.3(NF1):c.6726_6727insGGAAA (p.Ser2243fs)	NF1	Pathogenic	17	29665063	29665064	C	CAGGAA	criteria provided, single submitter	ClinGen:CA658798759
Deletion	NM_001042492.3(NF1):c.5157del (p.Ile1719fs)	NF1	Pathogenic/Likely pathogenic	17	29653159	29653159	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.200del (p.Asn67fs)	NF1	Pathogenic	17	29483139	29483139	CA	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.233del (p.Asn78fs)	NF1	Pathogenic	17	29486050	29486050	GA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.1020dup (p.Val341fs)	NF1	Pathogenic	17	29527570	29527571	C	CT	criteria provided, multiple submitters, no conflicts	-