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
Insertion	NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs)	NF1	Pathogenic	17	29677208	29677209	T	TAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798782
Deletion	NM_001042492.2(NF1):c.(?_-50)_(*68_?)del	NF1	Pathogenic	17	29422278	29701241	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3060del (p.Glu1020_Val1021insTer)	NF1	Pathogenic	17	29557346	29557346	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798758
single nucleotide variant	NM_001042492.3(NF1):c.3974G>T (p.Arg1325Met)	NF1	Likely pathogenic	17	29563039	29563039	G	T	criteria provided, single submitter	ClinGen:CA398993356
Duplication	NM_001042492.3(NF1):c.5619dup (p.Tyr1874fs)	NF1	Pathogenic	17	29657321	29657322	G	GC	criteria provided, single submitter	ClinGen:CA658798793
single nucleotide variant	NM_001042492.3(NF1):c.5835T>A (p.Cys1945Ter)	NF1	Pathogenic	17	29661878	29661878	T	A	criteria provided, single submitter	ClinGen:CA399010601
Duplication	NM_001042492.3(NF1):c.6915_6916dup (p.Asn2306fs)	NF1	Pathogenic	17	29665816	29665817	T	TTA	criteria provided, single submitter	ClinGen:CA658798771
Deletion	NM_001042492.3(NF1):c.7076_7102del (p.Val2359_Leu2367del)	NF1	Pathogenic	17	29670039	29670065	AGTATTTATGGCAATCCGGAATCCTCTG	A	criteria provided, single submitter	ClinGen:CA658798777
Insertion	NM_001042492.3(NF1):c.616_617insGG (p.Lys206fs)	NF1	Likely pathogenic	17	29508469	29508470	A	AGG	criteria provided, single submitter	ClinGen:CA658798743
Duplication	NM_001042492.3(NF1):c.4828dup (p.Ala1610fs)	NF1	Likely pathogenic	17	29592349	29592350	T	TG	criteria provided, single submitter	ClinGen:CA658798811