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.770C>T (p.Ser257Leu)	RAF1	Pathogenic	3	12645699	12645699	G	A	reviewed by expert panel	ClinGen:CA235334,UniProtKB:P04049#VAR_037808,OMIM:164760.0001
single nucleotide variant	NM_002880.4(RAF1):c.775T>G (p.Ser259Ala)	RAF1	Pathogenic	3	12645694	12645694	A	C	reviewed by expert panel	ClinGen:CA351512423
single nucleotide variant	NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)	RAF1	Pathogenic/Likely pathogenic	3	12645694	12645694	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576602
single nucleotide variant	NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)	RAF1	Pathogenic	3	12645694	12645694	A	T	reviewed by expert panel	ClinGen:CA261617
single nucleotide variant	NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	RAF1	Pathogenic	3	12645693	12645693	G	T	reviewed by expert panel	ClinGen:CA134750
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.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.778A>C (p.Thr260Pro)	RAF1	Pathogenic/Likely pathogenic	3	12645691	12645691	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351512415
single nucleotide variant	NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)	RAF1	Pathogenic/Likely pathogenic	3	12645690	12645690	G	T	criteria provided, multiple submitters, no conflicts	-
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