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
single nucleotide variant	NM_001042492.3(NF1):c.7790C>A (p.Ser2597Ter)	NF1	Pathogenic	17	29684029	29684029	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7926C>G (p.Tyr2642Ter)	NF1	Pathogenic	17	29684343	29684343	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.8017C>T (p.Gln2673Ter)	NF1	Pathogenic	17	29685544	29685544	C	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2455del (p.His819fs)	NF1	Pathogenic	17	29556086	29556086	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)	NF1	Pathogenic/Likely pathogenic	17	29553702	29553702	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs)	NF1	Pathogenic	17	29556174	29556175	T	TGG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5269-2A>T	NF1	Pathogenic	17	29654515	29654515	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1392+1G>C	NF1	Pathogenic	17	29533390	29533390	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter)	NF1	Pathogenic	17	29556460	29556460	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)	NF1	Pathogenic/Likely pathogenic	17	29527613	29527613	G	C	criteria provided, multiple submitters, no conflicts	-