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_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	RRAS2	Pathogenic	11	14316390	14316390	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120437,OMIM:600098.0001
single nucleotide variant	NM_002880.4(RAF1):c.285C>G (p.Cys95Trp)	RAF1	Likely pathogenic	3	12653484	12653484	G	C	criteria provided, single submitter	ClinGen:CA273221
single nucleotide variant	NM_002880.4(RAF1):c.418A>C (p.Asn140His)	RAF1	Likely pathogenic	3	12650737	12650737	T	G	criteria provided, single submitter	ClinGen:CA297148
single nucleotide variant	NM_002880.4(RAF1):c.433A>C (p.Thr145Pro)	RAF1	Likely pathogenic	3	12650413	12650413	T	G	criteria provided, single submitter	ClinGen:CA16042457
single nucleotide variant	NM_002880.4(RAF1):c.483T>G (p.Asn161Lys)	RAF1	Likely pathogenic	3	12650363	12650363	A	C	criteria provided, single submitter	ClinGen:CA16040603
single nucleotide variant	NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)	RAF1	Pathogenic/Likely pathogenic	3	12645703	12645703	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261620
single nucleotide variant	NM_002880.4(RAF1):c.768G>C (p.Arg256Ser)	RAF1	Pathogenic/Likely pathogenic	3	12645701	12645701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261623,UniProtKB:P04049#VAR_037807
single nucleotide variant	NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)	RAF1	Pathogenic	3	12645701	12645701	C	A	reviewed by expert panel	ClinGen:CA261625,UniProtKB:P04049#VAR_037807
single nucleotide variant	NM_002880.4(RAF1):c.769T>A (p.Ser257Thr)	RAF1	Likely pathogenic	3	12645700	12645700	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)	RAF1	Likely pathogenic	3	12645700	12645700	A	G	reviewed by expert panel	ClinGen:CA184835