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.479+5G>A	NF1	Pathogenic	17	29490399	29490399	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.592del (p.Ala198fs)	NF1	Pathogenic	17	29508445	29508445	AG	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.607del (p.Ala203fs)	NF1	Pathogenic	17	29508460	29508460	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3436G>T (p.Val1146Phe)	NF1	Pathogenic	17	29559839	29559839	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)	NF1	Pathogenic/Likely pathogenic	17	29559850	29559850	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000267.3(NF1):c.3497delG	NF1	Pathogenic	17	29560019	29560019	AG	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.889-2del	NF1	Pathogenic	17	29527438	29527438	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1260+1G>T	NF1	Pathogenic/Likely pathogenic	17	29528504	29528504	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.3695del (p.Pro1232fs)	NF1	Pathogenic	17	29560217	29560217	TC	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1619del (p.Glu540fs)	NF1	Pathogenic	17	29546114	29546114	GA	G	criteria provided, single submitter	-