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_002834.5(PTPN11):c.178G>C (p.Gly60Arg)	PTPN11	Pathogenic/Likely pathogenic	12	112888162	112888162	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042862
single nucleotide variant	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	LZTR1	Pathogenic/Likely pathogenic	22	21346593	21346593	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118715
single nucleotide variant	NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)	PTPN11	Pathogenic/Likely pathogenic	12	112926900	112926900	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588540
single nucleotide variant	NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)	RAF1	Pathogenic/Likely pathogenic	3	12645694	12645694	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576602
single nucleotide variant	NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)	RIT1	Pathogenic/Likely pathogenic	1	155874530	155874530	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576360
single nucleotide variant	NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	BRAF	Pathogenic/Likely pathogenic	7	140476832	140476832	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA354839,UniProtKB:P15056#VAR_058626
single nucleotide variant	NM_033360.4(KRAS):c.175G>T (p.Ala59Ser)	KRAS	Pathogenic/Likely pathogenic	12	25380283	25380283	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA354836
single nucleotide variant	NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	NRAS	Pathogenic/Likely pathogenic	1	115258747	115258747	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280928
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_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