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_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)	PTPN11	Pathogenic/Likely pathogenic	12	112926888	112926888	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA282132
single nucleotide variant	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	PTPN11	Pathogenic	12	112926890	112926890	A	G	reviewed by expert panel	ClinGen:CA220140
single nucleotide variant	NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	PTPN11	Pathogenic	12	112926897	112926897	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235331
single nucleotide variant	NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	PTPN11	Pathogenic	12	112926908	112926908	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273420
single nucleotide variant	NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)	PTPN11	Pathogenic	12	112926910	112926910	G	C	reviewed by expert panel	ClinGen:CA220143
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.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.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>C (p.Ser257Pro)	RAF1	Likely pathogenic	3	12645700	12645700	A	G	reviewed by expert panel	ClinGen:CA184835
single nucleotide variant	NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)	RAF1	Pathogenic	3	12645694	12645694	A	T	reviewed by expert panel	ClinGen:CA261617