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.3651T>G (p.Asp1217Glu)	NF1	Likely pathogenic	17	29560174	29560174	T	G	criteria provided, single submitter	ClinGen:CA398990468
Deletion	NM_001042492.3(NF1):c.3665del (p.Pro1222fs)	NF1	Pathogenic	17	29560186	29560186	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA289338290
single nucleotide variant	NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)	NF1	Pathogenic/Likely pathogenic	17	29562754	29562754	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398992784
Deletion	NM_001042492.3(NF1):c.4076del (p.Pro1359fs)	NF1	Pathogenic	17	29576098	29576098	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373127
single nucleotide variant	NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)	NF1	Pathogenic/Likely pathogenic	17	29585518	29585518	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998175
single nucleotide variant	NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)	NF1	Pathogenic/Likely pathogenic	17	29586056	29586056	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998696
single nucleotide variant	NM_001042492.3(NF1):c.4372G>A (p.Glu1458Lys)	NF1	Pathogenic	17	29586089	29586089	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998810
Deletion	NM_001042492.3(NF1):c.4460del (p.Pro1487fs)	NF1	Pathogenic	17	29587415	29587415	TC	T	criteria provided, single submitter	ClinGen:CA645373128
single nucleotide variant	NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)	NF1	Pathogenic	17	29587454	29587454	A	G	criteria provided, single submitter	ClinGen:CA398999503
single nucleotide variant	NM_001042492.3(NF1):c.4520T>G (p.Leu1507Ter)	NF1	Pathogenic	17	29587476	29587476	T	G	criteria provided, single submitter	ClinGen:CA398999657