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.8095C>T (p.Gln2699Ter)	NF1	Pathogenic	17	29685622	29685622	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA196638
Indel	NM_001042492.3(NF1):c.8084_8089delinsA (p.Pro2695fs)	NF1	Pathogenic	17	29685611	29685616	CACCAC	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.8066del (p.Val2689fs)	NF1	Pathogenic	17	29685593	29685593	GT	G	criteria provided, single submitter	ClinGen:CA658658608
Deletion	NM_001042492.3(NF1):c.8033del (p.Leu2677_Leu2678insTer)	NF1	Pathogenic	17	29685559	29685559	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.8017C>T (p.Gln2673Ter)	NF1	Pathogenic	17	29685544	29685544	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.8009C>A (p.Ser2670Ter)	NF1	Pathogenic	17	29685536	29685536	C	A	criteria provided, single submitter	ClinGen:CA399203665
Duplication	NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter)	NF1	Pathogenic	17	29685515	29685516	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645572290
single nucleotide variant	NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter)	NF1	Pathogenic	17	29685509	29685509	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)	NF1	Likely pathogenic	17	29685499	29685499	C	T	criteria provided, single submitter	ClinGen:CA399203584
single nucleotide variant	NM_001042492.3(NF1):c.7970+5G>T	NF1	Likely pathogenic	17	29684392	29684392	G	T	criteria provided, multiple submitters, no conflicts	-