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_004333.6(BRAF):c.1096G>C (p.Ala366Pro)	BRAF	Likely pathogenic	7	140494152	140494152	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)	BRAF	Likely pathogenic	7	140481421	140481421	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)	BRAF	Pathogenic	7	140481418	140481418	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042578
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.1391G>C (p.Gly464Ala)	BRAF	Likely pathogenic	7	140481417	140481417	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	BRAF	Pathogenic/Likely pathogenic	7	140481417	140481417	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA135076,UniProtKB:P15056#VAR_018616
single nucleotide variant	NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	BRAF	Pathogenic	7	140481417	140481417	C	T	reviewed by expert panel	ClinGen:CA250636,UniProtKB:P15056#VAR_018615,OMIM:164757.0004
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.1399T>G (p.Ser467Ala)	BRAF	Pathogenic	7	140481409	140481409	A	C	criteria provided, single submitter	ClinGen:CA357002,UniProtKB:P15056#VAR_035096
single nucleotide variant	NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)	BRAF	Pathogenic/Likely pathogenic	7	140481405	140481405	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280002,UniProtKB:P15056#VAR_035097