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.6772C>T (p.Arg2258Ter)	NF1	Pathogenic	17	29665110	29665110	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580388
Deletion	NM_001042492.3(NF1):c.7234del (p.Ile2412fs)	NF1	Pathogenic	17	29676181	29676181	GA	G	criteria provided, single submitter	ClinGen:CA10580400
single nucleotide variant	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1	Pathogenic	17	29679366	29679366	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580413
Deletion	NM_001042492.3(NF1):c.6912_6916del (p.Leu2304_Leu2305insTer)	NF1	Pathogenic	17	29665814	29665818	TTCTTA	T	criteria provided, single submitter	ClinGen:CA10581295
Deletion	NM_000267.3(NF1):c.-383_*3522del	NF1	Pathogenic	17	29421945	29704695	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.397del (p.Glu133fs)	NF1	Pathogenic	17	29490312	29490312	TG	T	criteria provided, single submitter	ClinGen:CA10583462
single nucleotide variant	NM_001042492.3(NF1):c.649G>T (p.Glu217Ter)	NF1	Pathogenic	17	29508502	29508502	G	T	criteria provided, single submitter	ClinGen:CA10583463
single nucleotide variant	NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	NF1	Pathogenic	17	29533378	29533378	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583470
single nucleotide variant	NM_001042492.3(NF1):c.1527+1159C>T	NF1	Pathogenic/Likely pathogenic	17	29542762	29542762	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583473
single nucleotide variant	NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)	NF1	Pathogenic/Likely pathogenic	17	29546090	29546090	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583475