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.1797G>A (p.Trp599Ter)	NF1	Pathogenic	17	29550537	29550537	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1845+1G>A	NF1	Pathogenic	17	29550586	29550586	G	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001042492.3(NF1):c.2148_2159delinsTGAAGTGTCT (p.Glu716fs)	NF1	Pathogenic	17	29553599	29553610	AGCAGATATCCG	TGAAGTGTCT	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2322_2323del (p.Glu775fs)	NF1	Pathogenic	17	29554306	29554307	CTG	C	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.2449dup (p.Met817fs)	NF1	Pathogenic	17	29556080	29556081	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2990G>C (p.Arg997Thr)	NF1	Likely pathogenic	17	29556992	29556992	G	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.3197+491_3384del	NF1	Likely pathogenic	17	29558432	29559785	TGTTTCTTTGACCAAGCCTAGCTTTATAATACAGTCTTCTCTGTCAGGGATTGGTTCCAAGAACCACTCCCCAAACCCCTGCCCACATCTTACTCCCATGAACACTAAAATCCACAGATGCTCAAGTCCCTGACTTAAGATGTCATAGTATTTGCATATAAACTATACACATCCTCCCATATATTTTTAATTATCTTCAGATTACTTATAATATCTAATACAATATAAATGTTGTATAAATATTTGTTATACCATATTGTTTAGGGAATAACAACAACAAAAAATCTGTACATGTTGAGTACAGATGAAACCCTCCTTTTTTTTCCCCCAAATATTTTCAATCCATGGGTGGTTGAATCCATGGATATAGAACTCACTGATACAGAGGGCCCATTGTACATGCTTCTGATTTAAGGTAGCCATTTTGCCAAGATTACTTTGTAGAAAGTAAGTATTACCTTCTCCCCATTTGAGATGATTTTGTATTCTGGGATCTGCATATTAACTCAAATTATTTGGGTTGTGCTAATAATTTGTTTAATGAAATAGGTAGTTCCTAAGGTTTATATCTGTTAGTAAGAGGTTTATTTGAGGGGAAGTGAAAGAACTTGAAAGATTCATGGTCTCTAAATTTTTTTTTTTTTTTTTTTTTTTTTTCAGAGATTTGGACCAGGCAAGCATGGAAGCAGTAGTTTCACTTCTAGCTGGTCTCCCTCTGCAGCCTGAAGAAGGAGATGGTGTGGAATTGATGGAAGCCAAATCACAGTTATTTCTTAAGTAAATTTCAGTCACCAAAAAACATAAAGCAAAAAGCAAATAAAGCCCCCCACCACACAAAAAAAGCAAAGAAATAATACCCATGACAGGACTAGGATAGGAAAATAACTGTGTTTTGTGATTTTTTTAAAGAAAGTAATATGATCAGTGAAATTTTGCTTATAATAAAACCCAGATTGCTTCATTAAGTCATTTACAAAAGTGACATTGTCTAAGCTGTTTGGACCACTAATTTTATATACTAACATTAAAAGTGACACATTTACCAGGTAATATTGCATCTATTTGATGCTAATGTTATGAAAGGTATACTAGGCTATATCAGGTAAAATCATGTCCAACATAGCACACTTCATAATAAGCCACCCTGGCTGATTATCGCGAGAGAGGAGAGAAACAGTTAACCCAGGGCCATTCACACCATGCACATATGATTGTTTTGGAATGTCTGGTTAGCTTTCTAGTTGATACGGCCTTCACTATGTAAAGGTCAGTCTTTTTATTTCTCAGATACTTCACATTATTTATGAACCTTTTGAATGACTGCAGTGAAGTTGAAGATGAAAGTGCGCAAACAG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3641T>G (p.Met1214Arg)	NF1	Likely pathogenic	17	29560164	29560164	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4000G>T (p.Glu1334Ter)	NF1	Pathogenic	17	29576027	29576027	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4245T>A (p.Asn1415Lys)	NF1	Pathogenic	17	29585433	29585433	T	A	criteria provided, single submitter	-