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	NC_000017.11:g.(?_31248974)_(31374165_?)del	NF1	Pathogenic	17	29575992	29701183	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.(?_31200402)_(31265359_?)del	NF1	Pathogenic	17	29527420	29592377	na	na	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	-
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.3709-2A>T	NF1	Pathogenic	17	29562627	29562627	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1062+1G>A	NF1	Pathogenic/Likely pathogenic	17	29527614	29527614	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000267.3(NF1):c.480delG	NF1	Pathogenic	17	29496908	29496908	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.60+1G>C	NF1	Pathogenic/Likely pathogenic	17	29422388	29422388	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_31229825)_(31265349_?)del	NF1	Pathogenic	17	29556843	29592367	na	na	criteria provided, single submitter	-