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.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.788T>A (p.Val263Asp)	RAF1	Pathogenic/Likely pathogenic	3	12645681	12645681	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351512308
single nucleotide variant	NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)	RAF1	Pathogenic	3	12645683	12645683	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261628
single nucleotide variant	NM_002880.4(RAF1):c.785A>T (p.Asn262Ile)	RAF1	Likely pathogenic	3	12645684	12645684	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA297151
single nucleotide variant	NM_002880.4(RAF1):c.785A>G (p.Asn262Ser)	RAF1	Likely pathogenic	3	12645684	12645684	T	C	criteria provided, single submitter	-
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.782C>T (p.Pro261Leu)	RAF1	Pathogenic/Likely pathogenic	3	12645687	12645687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267618,UniProtKB:P04049#VAR_037813
single nucleotide variant	NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	RAF1	Pathogenic	3	12645688	12645688	G	A	reviewed by expert panel	ClinGen:CA257062,UniProtKB:P04049#VAR_037814,OMIM:164760.0002
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