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.608A>G (p.Glu203Gly)	MAP2K1	Pathogenic	15	66774132	66774132	A	G	reviewed by expert panel	ClinGen:CA234222
single nucleotide variant	NM_004333.6(BRAF):c.785A>G (p.Gln262Arg)	BRAF	Pathogenic/Likely pathogenic	7	140501287	140501287	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235367
single nucleotide variant	NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	RIT1	Pathogenic/Likely pathogenic	1	155874285	155874285	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297161,UniProtKB:Q92963#VAR_070152,OMIM:609591.0003
single nucleotide variant	NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg)	SOS1	Pathogenic/Likely pathogenic	2	39250139	39250139	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297270,UniProtKB:Q07889#VAR_064505
single nucleotide variant	NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)	SOS1	Pathogenic/Likely pathogenic	2	39250259	39250259	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297264
single nucleotide variant	NM_002880.4(RAF1):c.785A>T (p.Asn262Ile)	RAF1	Likely pathogenic	3	12645684	12645684	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA297151
single nucleotide variant	NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu)	BRAF	Pathogenic	7	140453150	140453150	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA295915,UniProtKB:P15056#VAR_018625
single nucleotide variant	NM_004333.6(BRAF):c.1722C>A (p.His574Gln)	BRAF	Pathogenic	7	140454006	140454006	G	T	criteria provided, single submitter	ClinGen:CA295914
single nucleotide variant	NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	BRAF	Pathogenic	7	140501333	140501333	A	G	reviewed by expert panel	ClinGen:CA295904
single nucleotide variant	NM_002834.5(PTPN11):c.172A>T (p.Asn58Tyr)	PTPN11	Pathogenic/Likely pathogenic	12	112888156	112888156	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA297070