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_006912.6(RIT1):c.270G>A (p.Met90Ile)	RIT1	Pathogenic/Likely pathogenic	1	155874261	155874261	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA150798,UniProtKB:Q92963#VAR_070156
single nucleotide variant	NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	RIT1	Pathogenic	1	155874247	155874247	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA144538,UniProtKB:Q92963#VAR_070157,OMIM:609591.0004
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.722C>A (p.Thr241Lys)	BRAF	Pathogenic	7	140501350	140501350	G	T	reviewed by expert panel	ClinGen:CA261663
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.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.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>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.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.736G>C (p.Ala246Pro)	BRAF	Pathogenic	7	140501336	140501336	C	G	reviewed by expert panel	ClinGen:CA279968,UniProtKB:P15056#VAR_026113,OMIM:164757.0012