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.2542G>A (p.Gly848Arg)	NF1	Pathogenic	17	29556175	29556175	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.2695_2738dup (p.Ile913_Arg914insCysProTer)	NF1	Pathogenic	17	29556327	29556328	G	GTTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAAT	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2702T>G (p.Leu901Ter)	NF1	Pathogenic	17	29556335	29556335	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter)	NF1	Pathogenic	17	29556367	29556367	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs)	NF1	Pathogenic	17	29556948	29556949	ATC	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)	NF1	Pathogenic	17	29556972	29556973	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)	NF1	Pathogenic/Likely pathogenic	17	29556992	29556992	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2991G>C (p.Arg997Ser)	NF1	Likely pathogenic	17	29557278	29557278	G	C	criteria provided, single submitter	-
Insertion	NM_000267.3(NF1):c.3047_3048insSVAelement	NF1	Pathogenic	17	29557334	29557335	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3053T>A (p.Leu1018Ter)	NF1	Pathogenic	17	29557340	29557340	T	A	criteria provided, single submitter	-