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
Duplication	NM_002524.5(NRAS):c.112-1_113dup	NRAS	Pathogenic	1	115256597	115256598	A	ATCC	criteria provided, single submitter	ClinGen:CA297029
single nucleotide variant	NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)	NRAS	Pathogenic/Likely pathogenic	1	115256536	115256536	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA297023
single nucleotide variant	NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	PTPN11	Pathogenic	12	112884189	112884189	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA235307,UniProtKB:Q06124#VAR_015601
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.166A>G (p.Ile56Val)	PTPN11	Pathogenic	12	112888150	112888150	A	G	reviewed by expert panel	ClinGen:CA180973
single nucleotide variant	NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	PTPN11	Pathogenic	12	112888156	112888156	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235310
single nucleotide variant	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	PTPN11	Pathogenic	12	112888156	112888156	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261558
single nucleotide variant	NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	PTPN11	Pathogenic	12	112888158	112888158	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA235313,UniProtKB:Q06124#VAR_027184
single nucleotide variant	NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)	PTPN11	Pathogenic/Likely pathogenic	12	112888158	112888158	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261561,UniProtKB:Q06124#VAR_027184
single nucleotide variant	NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)	PTPN11	Pathogenic/Likely pathogenic	12	112888162	112888162	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA235370