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_002880.4(RAF1):c.776C>G (p.Ser259Cys)	RAF1	Pathogenic/Likely pathogenic	3	12645693	12645693	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297115
single nucleotide variant	NM_002880.4(RAF1):c.776C>T (p.Ser259Phe)	RAF1	Pathogenic	3	12645693	12645693	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339739,UniProtKB:P04049#VAR_037809
single nucleotide variant	NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)	RAF1	Pathogenic/Likely pathogenic	3	12645688	12645688	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA250285
single nucleotide variant	NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)	RAF1	Pathogenic/Likely pathogenic	3	12645688	12645688	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261626,UniProtKB:P04049#VAR_037812
single nucleotide variant	NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)	RAF1	Pathogenic/Likely pathogenic	3	12645687	12645687	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA134753
single nucleotide variant	NM_002880.4(RAF1):c.788T>G (p.Val263Gly)	RAF1	Likely pathogenic	3	12645681	12645681	A	C	reviewed by expert panel	ClinGen:CA273745
single nucleotide variant	NM_002880.4(RAF1):c.788T>C (p.Val263Ala)	RAF1	Pathogenic/Likely pathogenic	3	12645681	12645681	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602249
single nucleotide variant	NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)	RAF1	Pathogenic	3	12641216	12641216	C	G	reviewed by expert panel	ClinGen:CA134687
single nucleotide variant	NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)	RAF1	Pathogenic	3	12632388	12632388	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297127
single nucleotide variant	NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	RAF1	Pathogenic/Likely pathogenic	3	12627293	12627293	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA297130