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.4262del (p.Pro1421fs)	NF1	Pathogenic	17	29585449	29585449	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4351A>G (p.Asn1451Asp)	NF1	Pathogenic	17	29586068	29586068	A	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4663del (p.Ala1555fs)	NF1	Pathogenic	17	29588813	29588813	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter)	NF1	Pathogenic	17	29652987	29652987	G	A	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.5039_5041delinsT (p.Tyr1680fs)	NF1	Pathogenic	17	29653041	29653043	ATA	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.6174del (p.Ile2058fs)	NF1	Pathogenic	17	29663678	29663678	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6427+2T>G	NF1	Pathogenic	17	29663934	29663934	T	G	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31095300)_(31374165_?)del	NF1	Pathogenic	17	29422318	29701183	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31155977)_(31163382_?)del	NF1	Pathogenic	17	29482995	29490400	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_29652828)_(29657526_?)dup	NF1	Likely pathogenic	17	29652828	29657526	na	na	criteria provided, single submitter	-