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.3447G>T (p.Met1149Ile)	NF1	Pathogenic/Likely pathogenic	17	29559850	29559850	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398989305
single nucleotide variant	NM_001042492.3(NF1):c.3569G>A (p.Gly1190Asp)	NF1	Pathogenic	17	29560092	29560092	G	A	criteria provided, single submitter	ClinGen:CA398990092
single nucleotide variant	NM_001042492.3(NF1):c.4110+1G>A	NF1	Pathogenic	17	29576138	29576138	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398995110
single nucleotide variant	NM_001042492.3(NF1):c.4578-2A>G	NF1	Pathogenic	17	29588727	29588727	A	G	criteria provided, single submitter	ClinGen:CA399000076
single nucleotide variant	NM_001042492.3(NF1):c.5055G>A (p.Trp1685Ter)	NF1	Pathogenic	17	29653057	29653057	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399007413
Deletion	NM_001042492.3(NF1):c.5269-41_5291del	NF1	Pathogenic	17	29654473	29654536	GAGTTTAATTCTTCTCCACTTCACCCCGTCACCACCACTTTCCAGGTTGGTTCTACTGCTGTCCA	G	criteria provided, single submitter	ClinGen:CA658658548
Insertion	NM_001042492.3(NF1):c.6365_6366insGG (p.His2123fs)	NF1	Pathogenic	17	29663870	29663871	C	CGG	criteria provided, single submitter	ClinGen:CA658658564
Indel	NM_001042492.3(NF1):c.7458-7_7459delinsT	NF1	Likely pathogenic	17	29679268	29679276	CTTTCAGGA	T	criteria provided, single submitter	ClinGen:CA658658603
single nucleotide variant	NM_001042492.3(NF1):c.7869+2T>G	NF1	Pathogenic	17	29684110	29684110	T	G	criteria provided, single submitter	ClinGen:CA399018729
Deletion	NC_000017.10:g.(?_29422308)_(29701193_?)del	NF1	Pathogenic	17	29422308	29701193	na	na	criteria provided, single submitter	-