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.1501G>A (p.Glu501Lys)	BRAF	Pathogenic/Likely pathogenic	7	140477807	140477807	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273130,UniProtKB:P15056#VAR_026118,OMIM:164757.0017
single nucleotide variant	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	BRAF	Pathogenic/Likely pathogenic	7	140477806	140477806	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279974,UniProtKB:P15056#VAR_026117,OMIM:164757.0018
single nucleotide variant	NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	BRAF	Pathogenic	7	140453987	140453987	T	C	reviewed by expert panel	ClinGen:CA279976,OMIM:164757.0019
single nucleotide variant	NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	BRAF	Pathogenic/Likely pathogenic	7	140476806	140476806	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279978,OMIM:164757.0020
single nucleotide variant	NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	BRAF	Pathogenic/Likely pathogenic	7	140449165	140449165	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279981,UniProtKB:P15056#VAR_058630,OMIM:164757.0021
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_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