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.739T>C (p.Phe247Leu)	BRAF	Pathogenic	7	140501333	140501333	A	G	reviewed by expert panel	ClinGen:CA295904
single nucleotide variant	NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	BRAF	Likely pathogenic	7	140501333	140501333	A	C	reviewed by expert panel	ClinGen:CA135140
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.741T>G (p.Phe247Leu)	BRAF	Pathogenic	7	140501331	140501331	A	C	reviewed by expert panel	ClinGen:CA284654
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.770A>G (p.Gln257Arg)	BRAF	Pathogenic	7	140501302	140501302	T	C	reviewed by expert panel	ClinGen:CA222583,UniProtKB:P15056#VAR_026114,OMIM:164757.0013
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.785A>G (p.Gln262Arg)	BRAF	Pathogenic/Likely pathogenic	7	140501287	140501287	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235367
single nucleotide variant	NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	BRAF	Pathogenic/Likely pathogenic	7	140501287	140501287	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280033
single nucleotide variant	NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)	BRAF	Likely pathogenic	7	140501279	140501279	C	G	reviewed by expert panel	ClinGen:CA261666