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.770C>T (p.Ser257Leu)	RAF1	Pathogenic	3	12645699	12645699	G	A	reviewed by expert panel	ClinGen:CA235334,UniProtKB:P04049#VAR_037808,OMIM:164760.0001
single nucleotide variant	NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	RAF1	Pathogenic	3	12645688	12645688	G	A	reviewed by expert panel	ClinGen:CA257062,UniProtKB:P04049#VAR_037814,OMIM:164760.0002
single nucleotide variant	NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)	RAF1	Likely pathogenic	3	12627244	12627244	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA257064,UniProtKB:P04049#VAR_037819,OMIM:164760.0003
single nucleotide variant	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	RAF1	Pathogenic	3	12626123	12626123	G	C	reviewed by expert panel	ClinGen:CA257066,UniProtKB:P04049#VAR_037821,OMIM:164760.0004
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.736G>C (p.Ala246Pro)	BRAF	Pathogenic	7	140501336	140501336	C	G	reviewed by expert panel	ClinGen:CA279968,UniProtKB:P15056#VAR_026113,OMIM:164757.0012
single nucleotide variant	NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	BRAF	Pathogenic	7	140453134	140453134	T	C	criteria provided, single submitter	ClinGen:CA123645,UniProtKB:P15056#VAR_018630,OMIM:164757.0005
single nucleotide variant	NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	BRAF	Pathogenic	7	140453146	140453146	G	C	criteria provided, multiple submitters, no conflicts	OMIM:164757.0008,OMIM:164757.0026,ClinGen:CA123651,UniProtKB:P15056#VAR_018627
single nucleotide variant	NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)	BRAF	Pathogenic/Likely pathogenic	7	140481403	140481403	C	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P15056#VAR_018622,OMIM:164757.0009,ClinGen:CA123653
single nucleotide variant	NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	BRAF	Pathogenic	7	140481402	140481402	C	G	criteria provided, single submitter	ClinGen:CA123655,UniProtKB:P15056#VAR_018620,OMIM:164757.0010