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_006912.6(RIT1):c.242A>G (p.Glu81Gly)	RIT1	Pathogenic/Likely pathogenic	1	155874289	155874289	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353880,UniProtKB:Q92963#VAR_070151,OMIM:609591.0002
single nucleotide variant	NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	RIT1	Pathogenic/Likely pathogenic	1	155874530	155874530	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353870
single nucleotide variant	NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)	RIT1	Pathogenic	1	155880449	155880449	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353872,UniProtKB:Q92963#VAR_070149
single nucleotide variant	NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	RIT1	Pathogenic/Likely pathogenic	1	155874261	155874261	C	G	criteria provided, multiple submitters, no conflicts	UniProtKB:Q92963#VAR_070156,OMIM:609591.0006,ClinGen:CA1151814
single nucleotide variant	NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly)	MAP2K1	Pathogenic	15	66729097	66729097	A	G	criteria provided, single submitter	ClinGen:CA347244
single nucleotide variant	NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	BRAF	Pathogenic/Likely pathogenic	7	140453152	140453152	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280071,UniProtKB:P15056#VAR_018625
single nucleotide variant	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1	Pathogenic/Likely pathogenic	22	21344765	21344765	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA358852,UniProtKB:Q8N653#VAR_075659,OMIM:600574.0008
single nucleotide variant	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	LZTR1	Pathogenic	22	21345975	21345975	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204980,UniProtKB:Q8N653#VAR_075660,OMIM:600574.0007
single nucleotide variant	NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)	SOS2	Pathogenic	14	50628269	50628269	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA358853,UniProtKB:Q07890#VAR_075689,OMIM:601247.0001
single nucleotide variant	NM_006939.4(SOS2):c.800T>A (p.Met267Lys)	SOS2	Pathogenic	14	50649239	50649239	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204984,UniProtKB:Q07890#VAR_075686,OMIM:601247.0002