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.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.1406G>A (p.Gly469Glu)	BRAF	Pathogenic	7	140481402	140481402	C	T	reviewed by expert panel	ClinGen:CA279970,UniProtKB:P15056#VAR_018621,OMIM:164757.0014
single nucleotide variant	NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	BRAF	Pathogenic	7	140477853	140477853	C	G	reviewed by expert panel	ClinGen:CA273414,UniProtKB:P15056#VAR_026115,OMIM:164757.0015
single nucleotide variant	NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	BRAF	Pathogenic/Likely pathogenic	7	140477813	140477813	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279972,UniProtKB:P15056#VAR_026116,OMIM:164757.0016
single nucleotide variant	NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	BRAF	Pathogenic/Likely pathogenic	7	140477807	140477807	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273130,UniProtKB:P15056#VAR_026118,OMIM:164757.0017
single nucleotide variant	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	BRAF	Pathogenic/Likely pathogenic	7	140477806	140477806	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279974,UniProtKB:P15056#VAR_026117,OMIM:164757.0018
single nucleotide variant	NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	BRAF	Pathogenic	7	140453987	140453987	T	C	reviewed by expert panel	ClinGen:CA279976,OMIM:164757.0019
single nucleotide variant	NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	BRAF	Pathogenic/Likely pathogenic	7	140476806	140476806	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279978,OMIM:164757.0020
single nucleotide variant	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	BRAF	Pathogenic/Likely pathogenic	7	140449165	140449165	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279981,UniProtKB:P15056#VAR_058630,OMIM:164757.0021
single nucleotide variant	NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)	RAF1	Pathogenic	3	12627244	12627244	G	A	reviewed by expert panel	ClinGen:CA261612,UniProtKB:P04049#VAR_037818