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.2330G>C (p.Trp777Ser)	NF1	Pathogenic/Likely pathogenic	17	29554545	29554545	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219445,UniProtKB:P21359#VAR_021743,UniProtKB/Swiss-Prot:VAR_021743
single nucleotide variant	NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)	NF1	Pathogenic/Likely pathogenic	17	29554554	29554554	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219449,UniProtKB:P21359#VAR_021744,UniProtKB/Swiss-Prot:VAR_021744
single nucleotide variant	NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)	NF1	Pathogenic/Likely pathogenic	17	29554565	29554565	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219457,UniProtKB:P21359#VAR_021747,UniProtKB/Swiss-Prot:VAR_021747
single nucleotide variant	NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)	NF1	Pathogenic/Likely pathogenic	17	29554567	29554567	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219461,UniProtKB:P21359#VAR_021746,UniProtKB/Swiss-Prot:VAR_021746
single nucleotide variant	NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)	NF1	Pathogenic/Likely pathogenic	17	29556163	29556163	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA219469,UniProtKB:P21359#VAR_010992,UniProtKB/Swiss-Prot:VAR_010992
single nucleotide variant	NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)	NF1	Pathogenic/Likely pathogenic	17	29556164	29556164	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219473,UniProtKB:P21359#VAR_032468,UniProtKB/Swiss-Prot:VAR_032468
single nucleotide variant	NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	NF1	Pathogenic/Likely pathogenic	17	29556173	29556173	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219477,UniProtKB:P21359#VAR_021748,UniProtKB/Swiss-Prot:VAR_021748
single nucleotide variant	NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)	NF1	Pathogenic	17	29556176	29556176	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219481,UniProtKB:P21359#VAR_021749,UniProtKB/Swiss-Prot:VAR_021749
single nucleotide variant	NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	NF1	Pathogenic/Likely pathogenic	17	29556326	29556326	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165101,UniProtKB:P21359#VAR_002655,UniProtKB/Swiss-Prot:VAR_002655
single nucleotide variant	NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)	NF1	Pathogenic/Likely pathogenic	17	29486101	29486101	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219494,UniProtKB:P21359#VAR_017551,UniProtKB/Swiss-Prot:VAR_017551