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_002709.3(PPP1CB):c.658C>T (p.Arg220Cys)	PPP1CB	Pathogenic/Likely pathogenic	2	29011589	29011589	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346583250
single nucleotide variant	NM_002880.4(RAF1):c.1556T>C (p.Met519Thr)	RAF1	Likely pathogenic	3	12626733	12626733	A	G	criteria provided, single submitter	ClinGen:CA351497922
single nucleotide variant	NM_002834.5(PTPN11):c.518G>C (p.Arg173Pro)	PTPN11	Likely pathogenic	12	112891184	112891184	G	C	criteria provided, single submitter	ClinGen:CA386781928
single nucleotide variant	NM_033360.4(KRAS):c.44G>T (p.Gly15Val)	KRAS	Likely pathogenic	12	25398275	25398275	C	A	criteria provided, single submitter	ClinGen:CA384157440
single nucleotide variant	NM_006767.4(LZTR1):c.431C>A (p.Ser144Tyr)	LZTR1	Likely pathogenic	22	21342329	21342329	C	A	criteria provided, single submitter	ClinGen:CA410779734
Deletion	NM_006767.4(LZTR1):c.438del (p.Lys147fs)	LZTR1	Likely pathogenic	22	21342336	21342336	TG	T	criteria provided, single submitter	ClinGen:CA658658905
Deletion	NM_006767.4(LZTR1):c.1005_1012del (p.Glu336fs)	LZTR1	Pathogenic/Likely pathogenic	22	21346512	21346519	GGCTGAAGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118694
single nucleotide variant	NM_006767.4(LZTR1):c.1149+1G>A	LZTR1	Pathogenic/Likely pathogenic	22	21346659	21346659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322328053
single nucleotide variant	NM_005633.4(SOS1):c.305C>G (p.Pro102Arg)	SOS1	Likely pathogenic	2	39285854	39285854	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346373860
single nucleotide variant	NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)	PTPN11	Pathogenic/Likely pathogenic	12	112888197	112888197	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA386777847