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.4930G>T (p.Asp1644Tyr)	NF1	Likely pathogenic	17	29652932	29652932	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399007133
Deletion	NM_001042492.3(NF1):c.60+2del	NF1	Likely pathogenic	17	29422389	29422389	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369716
Deletion	NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)	NF1	Likely pathogenic	17	29676265	29676267	TAGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293902
single nucleotide variant	NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)	NF1	Likely pathogenic	17	29557278	29557278	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398986502
Duplication	NM_001042492.3(NF1):c.7577dup (p.Met2526fs)	NF1	Likely pathogenic	17	29679393	29679394	A	AT	criteria provided, single submitter	ClinGen:CA16620376
Deletion	NM_001042492.3(NF1):c.6350_6353del (p.Ser2117fs)	NF1	Likely pathogenic	17	29663853	29663856	TCTCC	T	criteria provided, single submitter	ClinGen:CA16620372
Deletion	NM_001042492.3(NF1):c.2791_2800del (p.Pro931fs)	NF1	Likely pathogenic	17	29556421	29556430	GTATCCAATGC	G	criteria provided, single submitter	ClinGen:CA16620363
Deletion	NM_001042492.3(NF1):c.660_665del (p.Asn222_Trp223del)	NF1	Likely pathogenic	17	29508733	29508738	TTTGGAA	T	criteria provided, single submitter	ClinGen:CA16620354
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.1260+5G>C	NF1	Likely pathogenic	17	29528508	29528508	G	C	criteria provided, single submitter	ClinGen:CA16615566