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.6538del (p.Ser2180fs)	NF1	Pathogenic	17	29664495	29664495	GT	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.6540del (p.Ser2181fs)	NF1	Pathogenic	17	29664497	29664497	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.6648C>A (p.Cys2216Ter)	NF1	Pathogenic	17	29664842	29664842	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter)	NF1	Pathogenic	17	29665071	29665071	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.6835_6836dup (p.Leu2279fs)	NF1	Pathogenic	17	29665736	29665737	C	CTT	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs)	NF1	Pathogenic	17	29667635	29667638	TTAGA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.7131del (p.Phe2377fs)	NF1	Pathogenic	17	29670092	29670092	AT	A	criteria provided, single submitter	-
Insertion	NM_001042492.3(NF1):c.7152_7153insTT (p.Asn2385fs)	NF1	Pathogenic	17	29670115	29670116	C	CTT	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7158del (p.Phe2386fs)	NF1	Pathogenic	17	29670120	29670120	CT	C	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.7325dup (p.Leu2442fs)	NF1	Pathogenic	17	29677201	29677202	C	CT	criteria provided, single submitter	-