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.155C>T (p.Thr52Ile)	PTPN11	Likely pathogenic	12	112888139	112888139	C	T	reviewed by expert panel	ClinGen:CA261555
single nucleotide variant	NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	PTPN11	Likely pathogenic	12	112888168	112888168	T	A	criteria provided, multiple submitters, no conflicts	-
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.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.788T>G (p.Val263Gly)	RAF1	Likely pathogenic	3	12645681	12645681	A	C	reviewed by expert panel	ClinGen:CA273745
single nucleotide variant	NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	SOS1	Likely pathogenic	2	39249914	39249914	C	A	reviewed by expert panel	ClinGen:CA16616762
single nucleotide variant	NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	MAP2K1	Likely pathogenic	15	66729180	66729180	T	C	reviewed by expert panel	ClinGen:CA279999
single nucleotide variant	NM_002755.4(MAP2K1):c.730T>G (p.Ser244Ala)	MAP2K1	Likely pathogenic	15	66777364	66777364	T	G	criteria provided, single submitter	ClinGen:CA296122
single nucleotide variant	NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)	MAP2K1	Likely pathogenic	15	66727453	66727453	A	C	reviewed by expert panel	ClinGen:CA134595