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
Deletion	NM_006767.4(LZTR1):c.27del (p.Gln10fs)	LZTR1	Pathogenic	22	21336681	21336681	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA170538,OMIM:600574.0004
single nucleotide variant	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS	Pathogenic	1	115258748	115258748	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA180753
single nucleotide variant	NM_002880.4(RAF1):c.285C>G (p.Cys95Trp)	RAF1	Likely pathogenic	3	12653484	12653484	G	C	criteria provided, single submitter	ClinGen:CA273221
single nucleotide variant	NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)	BRAF	Pathogenic	7	140453150	140453150	A	C	reviewed by expert panel	ClinGen:CA280058,UniProtKB:P15056#VAR_018625
single nucleotide variant	NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	BRAF	Pathogenic	7	140477853	140477853	C	A	reviewed by expert panel	ClinGen:CA280060,UniProtKB:P15056#VAR_026115
single nucleotide variant	NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)	BRAF	Pathogenic	7	140449165	140449165	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280051,UniProtKB:P15056#VAR_058630
single nucleotide variant	NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	BRAF	Likely pathogenic	7	140453193	140453193	T	C	criteria provided, single submitter	ClinGen:CA180747,UniProtKB:P15056#VAR_040393
single nucleotide variant	NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn)	BRAF	Likely pathogenic	7	140477859	140477859	T	G	criteria provided, single submitter	ClinGen:CA273507
single nucleotide variant	NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)	BRAF	Pathogenic/Likely pathogenic	7	140481403	140481403	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA180746,UniProtKB:P15056#VAR_018622
single nucleotide variant	NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)	PTPN11	Likely pathogenic	12	112888190	112888190	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA177668