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.722C>T (p.Thr241Met)	BRAF	Pathogenic/Likely pathogenic	7	140501350	140501350	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA259660,UniProtKB:P15056#VAR_058620,OMIM:164757.0022
single nucleotide variant	NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)	BRAF	Pathogenic	7	140501350	140501350	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA259663,UniProtKB:P15056#VAR_058622,OMIM:164757.0023
single nucleotide variant	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF	Pathogenic/Likely pathogenic	7	140501351	140501351	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA128663,UniProtKB:P15056#VAR_058621,OMIM:164757.0024
single nucleotide variant	NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	BRAF	Pathogenic	7	140476813	140476813	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA250333,UniProtKB:P15056#VAR_058627,OMIM:164757.0025
single nucleotide variant	NM_033360.4(KRAS):c.439A>G (p.Lys147Glu)	KRAS	Pathogenic/Likely pathogenic	12	25378559	25378559	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279985,UniProtKB:P01116#VAR_069785,OMIM:190070.0022
single nucleotide variant	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS	Pathogenic/Likely pathogenic	1	115258747	115258747	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA130425,UniProtKB:P01111#VAR_071129,OMIM:164790.0007
single nucleotide variant	NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)	BRAF	Pathogenic	7	140501342	140501342	T	G	reviewed by expert panel	ClinGen:CA280025,UniProtKB:P15056#VAR_065171
single nucleotide variant	NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)	BRAF	Pathogenic	7	140501337	140501337	T	G	reviewed by expert panel	ClinGen:CA280027,UniProtKB:P15056#VAR_058623,OMIM:164757.0027
single nucleotide variant	NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)	BRAF	Pathogenic	7	140501337	140501337	T	A	reviewed by expert panel	ClinGen:CA280029,UniProtKB:P15056#VAR_058623
single nucleotide variant	NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)	BRAF	Likely pathogenic	7	140501332	140501332	A	G	reviewed by expert panel	-