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_005633.4(SOS1):c.925G>T (p.Asp309Tyr)	SOS1	Pathogenic	2	39262581	39262581	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261746,UniProtKB:Q07889#VAR_030426
single nucleotide variant	NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)	BRAF	Pathogenic	7	140501331	140501331	A	C	reviewed by expert panel	ClinGen:CA284654
single nucleotide variant	NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	PTPN11	Pathogenic/Likely pathogenic	12	112888163	112888163	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA284662,UniProtKB:Q06124#VAR_015990
Indel	NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro)	PTPN11	Pathogenic	12	112926897	112926898	AG	CC	criteria provided, single submitter	ClinGen:CA284668
single nucleotide variant	NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	RIT1	Pathogenic	1	155874589	155874589	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA144537,UniProtKB:Q92963#VAR_070150,OMIM:609591.0001
single nucleotide variant	NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	RIT1	Pathogenic	1	155874247	155874247	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA144538,UniProtKB:Q92963#VAR_070157,OMIM:609591.0004
single nucleotide variant	NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser)	PTPN11	Pathogenic	12	112910827	112910827	A	C	criteria provided, single submitter	ClinGen:CA344998,UniProtKB:Q06124#VAR_027188
Deletion	NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)	LZTR1	Likely pathogenic	22	21351196	21351199	AACGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA150703,OMIM:600574.0005
single nucleotide variant	NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	RAF1	Pathogenic/Likely pathogenic	3	12645687	12645687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267618,UniProtKB:P04049#VAR_037813
single nucleotide variant	NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	RIT1	Pathogenic/Likely pathogenic	1	155874261	155874261	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA150798,UniProtKB:Q92963#VAR_070156