ヌーナン症候群

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_002524.5(NRAS):c.37G>C (p.Gly13Arg)	NRAS	Likely pathogenic	1	115258745	115258745	C	G	criteria provided, single submitter	ClinGen:CA151261,UniProtKB:P01111#VAR_006845,OMIM:164790.0001
single nucleotide variant	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS	Pathogenic	1	115256529	115256529	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA123618,UniProtKB:P01111#VAR_006847,OMIM:164790.0002
single nucleotide variant	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS	Pathogenic/Likely pathogenic	1	115258744	115258744	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123620,UniProtKB:P01111#VAR_063084,OMIM:164790.0003
single nucleotide variant	NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	NRAS	Pathogenic	1	115256562	115256562	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257019,UniProtKB:P01111#VAR_063085,OMIM:164790.0004
single nucleotide variant	NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	NRAS	Pathogenic	1	115256532	115256532	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257021,UniProtKB:P01111#VAR_063086,OMIM:164790.0005
single nucleotide variant	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS	Pathogenic/Likely pathogenic	1	115258747	115258747	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA130425,UniProtKB:P01111#VAR_071129,OMIM:164790.0007
single nucleotide variant	NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	NRAS	Pathogenic	1	115258748	115258748	C	A	criteria provided, single submitter	COSMIC:562,ClinGen:CA297020,UniProtKB:P01111#VAR_021194
single nucleotide variant	NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	NRAS	Pathogenic	1	115258748	115258748	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA297030
single nucleotide variant	NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	NRAS	Pathogenic/Likely pathogenic	1	115258747	115258747	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261525
Duplication	NM_002524.5(NRAS):c.112-1_113dup	NRAS	Pathogenic	1	115256597	115256598	A	ATCC	criteria provided, single submitter	ClinGen:CA297029