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.735A>C (p.Leu245Phe)	BRAF	Pathogenic	7	140501337	140501337	T	G	reviewed by expert panel	ClinGen:CA280027,UniProtKB:P15056#VAR_058623,OMIM:164757.0027
single nucleotide variant	NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)	BRAF	Pathogenic	7	140501337	140501337	T	A	reviewed by expert panel	ClinGen:CA280029,UniProtKB:P15056#VAR_058623
single nucleotide variant	NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)	BRAF	Likely pathogenic	7	140501332	140501332	A	G	reviewed by expert panel	-
single nucleotide variant	NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)	BRAF	Pathogenic/Likely pathogenic	7	140501303	140501303	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280030
single nucleotide variant	NM_004333.6(BRAF):c.784C>A (p.Gln262Lys)	BRAF	Pathogenic/Likely pathogenic	7	140501288	140501288	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281957,UniProtKB:P15056#VAR_065172
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>C (p.Gly464Ala)	BRAF	Likely pathogenic	7	140481417	140481417	C	G	criteria provided, single submitter	-
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
single nucleotide variant	NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)	BRAF	Pathogenic/Likely pathogenic	7	140481397	140481397	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA281968
single nucleotide variant	NM_004333.6(BRAF):c.1411G>A (p.Val471Ile)	BRAF	Likely pathogenic	7	140481397	140481397	C	T	criteria provided, single submitter	ClinGen:CA281971