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_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS	Pathogenic	1	115256529	115256529	T	G	criteria provided, single submitter	ClinGen:CA10602732
single nucleotide variant	NM_004333.6(BRAF):c.1493T>A (p.Phe498Tyr)	BRAF	Likely pathogenic	7	140477815	140477815	A	T	criteria provided, single submitter	ClinGen:CA10602953
single nucleotide variant	NM_004333.6(BRAF):c.1390G>C (p.Gly464Arg)	BRAF	Pathogenic	7	140481418	140481418	C	G	criteria provided, single submitter	ClinGen:CA10602955
single nucleotide variant	NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)	BRAF	Pathogenic	7	140453139	140453139	G	C	reviewed by expert panel	ClinGen:CA10603019,UniProtKB:P15056#VAR_058628
single nucleotide variant	NM_002834.5(PTPN11):c.845T>C (p.Ile282Thr)	PTPN11	Pathogenic	12	112910836	112910836	T	C	criteria provided, single submitter	ClinGen:CA10603177
single nucleotide variant	NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	MAP2K1	Pathogenic	15	66729115	66729115	G	T	reviewed by expert panel	ClinGen:CA10603467
single nucleotide variant	NM_006767.4(LZTR1):c.685T>G (p.Cys229Gly)	LZTR1	Likely pathogenic	22	21344708	21344708	T	G	criteria provided, single submitter	ClinGen:CA10603560
single nucleotide variant	NM_006767.4(LZTR1):c.509+1G>T	LZTR1	Likely pathogenic	22	21342408	21342408	G	T	criteria provided, single submitter	ClinGen:CA10603692
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_006912.6(RIT1):c.246T>A (p.Phe82Leu)	RIT1	Pathogenic	1	155874285	155874285	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040628,UniProtKB:Q92963#VAR_070152