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_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	MAP2K1	Likely pathogenic	15	66727559	66727559	T	G	reviewed by expert panel	ClinGen:CA134601
single nucleotide variant	NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	PTPN11	Pathogenic	12	112888193	112888193	A	G	reviewed by expert panel	ClinGen:CA261568
Indel	NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu)	PTPN11	Pathogenic	12	112888201	112888202	AC	CT	criteria provided, single submitter	ClinGen:CA261574
single nucleotide variant	NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)	PTPN11	Likely pathogenic	12	112888219	112888219	C	A	criteria provided, single submitter	ClinGen:CA261581
Deletion	NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer)	PTPN11	Pathogenic	12	112893772	112893772	TA	T	criteria provided, single submitter	ClinGen:CA134679
single nucleotide variant	NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)	PTPN11	Pathogenic/Likely pathogenic	12	112910765	112910765	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261591
single nucleotide variant	NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	PTPN11	Pathogenic/Likely pathogenic	12	112910793	112910793	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261594
single nucleotide variant	NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)	PTPN11	Pathogenic	12	112915456	112915456	T	G	criteria provided, multiple submitters, no conflicts	UniProtKB:Q06124#VAR_015617,ClinGen:CA261606
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