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.1837C>G (p.Leu613Val)	RAF1	Pathogenic	3	12626123	12626123	G	C	reviewed by expert panel	ClinGen:CA257066,UniProtKB:P04049#VAR_037821,OMIM:164760.0004
single nucleotide variant	NM_002880.4(RAF1):c.1837C>A (p.Leu613Ile)	RAF1	Likely pathogenic	3	12626123	12626123	G	T	criteria provided, single submitter	ClinGen:CA351496090
single nucleotide variant	NM_002880.4(RAF1):c.1556T>C (p.Met519Thr)	RAF1	Likely pathogenic	3	12626733	12626733	A	G	criteria provided, single submitter	ClinGen:CA351497922
single nucleotide variant	NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)	RAF1	Likely pathogenic	3	12627244	12627244	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA257064,UniProtKB:P04049#VAR_037819,OMIM:164760.0003
single nucleotide variant	NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)	RAF1	Pathogenic	3	12627244	12627244	G	A	reviewed by expert panel	ClinGen:CA261612,UniProtKB:P04049#VAR_037818
single nucleotide variant	NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe)	RAF1	Likely pathogenic	3	12627249	12627249	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)	RAF1	Pathogenic/Likely pathogenic	3	12627259	12627259	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261610,UniProtKB:P04049#VAR_037816
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
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.1082G>C (p.Gly361Ala)	RAF1	Pathogenic	3	12641216	12641216	C	G	reviewed by expert panel	ClinGen:CA134687