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_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	RAF1	Pathogenic	3	12645693	12645693	G	T	reviewed by expert panel	ClinGen:CA134750
single nucleotide variant	NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)	RAF1	Pathogenic	3	12645683	12645683	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261628
single nucleotide variant	NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)	BRAF	Likely pathogenic	7	140481412	140481412	C	T	criteria provided, single submitter	ClinGen:CA135079
single nucleotide variant	NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	BRAF	Pathogenic	7	140481402	140481402	C	A	criteria provided, single submitter	UniProtKB:P15056#VAR_040392,ClinGen:CA135085
single nucleotide variant	NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)	BRAF	Likely pathogenic	7	140481399	140481399	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261657
single nucleotide variant	NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu)	BRAF	Pathogenic/Likely pathogenic	7	140477866	140477866	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280004
single nucleotide variant	NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)	BRAF	Pathogenic/Likely pathogenic	7	140477848	140477848	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280007
single nucleotide variant	NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln)	BRAF	Likely pathogenic	7	140477807	140477807	C	G	criteria provided, single submitter	ClinGen:CA280010
single nucleotide variant	NM_004333.6(BRAF):c.1720C>T (p.His574Tyr)	BRAF	Pathogenic	7	140454008	140454008	G	A	criteria provided, single submitter	ClinGen:CA280019
single nucleotide variant	NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	BRAF	Pathogenic/Likely pathogenic	7	140453192	140453192	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280022