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.5534T>G (p.Ile1845Ser)	NF1	Pathogenic/Likely pathogenic	17	29654782	29654782	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615538
single nucleotide variant	NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)	NF1	Pathogenic/Likely pathogenic	17	29483019	29483019	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615539
single nucleotide variant	NM_001042492.3(NF1):c.654+1G>T	NF1	Pathogenic/Likely pathogenic	17	29508508	29508508	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615561
Deletion	NM_001042492.3(NF1):c.6487_6488del (p.Leu2163fs)	NF1	Pathogenic	17	29664445	29664446	CTT	C	criteria provided, single submitter	ClinGen:CA16615562
single nucleotide variant	NM_001042492.3(NF1):c.6642+1G>T	NF1	Pathogenic	17	29664601	29664601	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615565
single nucleotide variant	NM_001042492.3(NF1):c.1260+5G>C	NF1	Likely pathogenic	17	29528508	29528508	G	C	criteria provided, single submitter	ClinGen:CA16615566
single nucleotide variant	NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)	NF1	Likely pathogenic	17	29664879	29664879	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615567
single nucleotide variant	NM_001042492.3(NF1):c.1299T>G (p.Tyr433Ter)	NF1	Pathogenic	17	29533296	29533296	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615569
single nucleotide variant	NM_001042492.3(NF1):c.6704+1G>A	NF1	Pathogenic	17	29664899	29664899	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615570
Deletion	NM_001042492.3(NF1):c.1392+1del	NF1	Pathogenic	17	29533389	29533389	CG	C	criteria provided, single submitter	ClinGen:CA16615571