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	NM_001042492.3(NF1):c.6704+1del	NF1	Pathogenic/Likely pathogenic	17	29664898	29664898	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2851-1G>A	NF1	Pathogenic/Likely pathogenic	17	29556852	29556852	G	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	-
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.1062+1G>A	NF1	Pathogenic/Likely pathogenic	17	29527614	29527614	G	A	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_001042492.3(NF1):c.2410-12T>G	NF1	Pathogenic/Likely pathogenic	17	29556031	29556031	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.288+5G>A	NF1	Pathogenic/Likely pathogenic	17	29486116	29486116	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)	NF1	Pathogenic/Likely pathogenic	17	29560091	29560091	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3496G>A (p.Gly1166Ser)	NF1	Pathogenic/Likely pathogenic	17	29559899	29559899	G	A	criteria provided, multiple submitters, no conflicts	-