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.1405G>A (p.Gly469Arg)	BRAF	Pathogenic/Likely pathogenic	7	140481403	140481403	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA180746,UniProtKB:P15056#VAR_018622
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>T (p.Gly469Val)	BRAF	Pathogenic	7	140481402	140481402	C	A	criteria provided, single submitter	UniProtKB:P15056#VAR_040392,ClinGen:CA135085
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.1406G>C (p.Gly469Ala)	BRAF	Pathogenic	7	140481402	140481402	C	G	criteria provided, single submitter	ClinGen:CA123655,UniProtKB:P15056#VAR_018620,OMIM:164757.0010
Duplication	NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup)	BRAF	Likely pathogenic	7	140481399	140481400	G	GTTCCAAATGATCCAGATCCAA	criteria provided, single submitter	-
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.1411G>A (p.Val471Ile)	BRAF	Likely pathogenic	7	140481397	140481397	C	T	criteria provided, single submitter	ClinGen:CA281971
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
Indel	NM_004333.6(BRAF):c.1441_1442delinsAA (p.Ala481Lys)	BRAF	Likely pathogenic	7	140477866	140477867	GC	TT	criteria provided, single submitter	-