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.6704+2T>G	NF1	Pathogenic	17	29664900	29664900	T	G	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer)	NF1	Likely pathogenic	17	29665118	29665129	TCATGGGCAGAT	ATGAGAC	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)	NF1	Likely pathogenic	17	29665734	29665735	T	TG	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.6855dup (p.Asn2286fs)	NF1	Likely pathogenic	17	29665756	29665757	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)	NF1	Likely pathogenic	17	29665823	29665823	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.6921+1G>T	NF1	Pathogenic	17	29665824	29665824	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.6921+2T>A	NF1	Likely pathogenic	17	29665825	29665825	T	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs)	NF1	Likely pathogenic	17	29667552	29667555	GGGTA	G	criteria provided, single submitter	-
Insertion	NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs)	NF1	Likely pathogenic	17	29667580	29667581	G	GTA	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla)	NF1	Likely pathogenic	17	29670133	29670142	TGGTTGGACA	CAGC	criteria provided, single submitter	-