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.1787G>T (p.Gly596Val)	BRAF	Pathogenic	7	140453148	140453148	C	A	reviewed by expert panel	ClinGen:CA220161,UniProtKB:P15056#VAR_035098
single nucleotide variant	NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	BRAF	Pathogenic	7	140453139	140453139	G	A	reviewed by expert panel	ClinGen:CA281995
single nucleotide variant	NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)	BRAF	Pathogenic	7	140453136	140453136	A	C	reviewed by expert panel	ClinGen:CA281998
single nucleotide variant	NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	BRAF	Pathogenic/Likely pathogenic	7	140453133	140453133	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA282001,COSMIC:26491
single nucleotide variant	NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	BRAF	Pathogenic	7	140453134	140453134	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA215454,UniProtKB:P15056#VAR_058629
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.1406G>T (p.Gly469Val)	BRAF	Pathogenic	7	140481402	140481402	C	A	criteria provided, single submitter	UniProtKB:P15056#VAR_040392,ClinGen:CA135085
single nucleotide variant	NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)	BRAF	Likely pathogenic	7	140481399	140481399	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261657
single nucleotide variant	NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu)	BRAF	Pathogenic/Likely pathogenic	7	140477866	140477866	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280004
single nucleotide variant	NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)	BRAF	Pathogenic/Likely pathogenic	7	140477848	140477848	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280007