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.1802A>T (p.Lys601Ile)	BRAF	Pathogenic/Likely pathogenic	7	140453133	140453133	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA282001,COSMIC:26491
single nucleotide variant	NM_033360.4(KRAS):c.64C>G (p.Gln22Glu)	KRAS	Pathogenic	12	25398255	25398255	G	C	criteria provided, single submitter	ClinGen:CA384157372
single nucleotide variant	NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	KRAS	Pathogenic	12	25398254	25398254	T	C	reviewed by expert panel	ClinGen:CA235299,UniProtKB:P01116#VAR_064851
single nucleotide variant	NM_033360.4(KRAS):c.65A>T (p.Gln22Leu)	KRAS	Pathogenic	12	25398254	25398254	T	A	criteria provided, single submitter	ClinGen:CA296089
single nucleotide variant	NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)	KRAS	Pathogenic	12	25398218	25398218	G	A	reviewed by expert panel	ClinGen:CA235301,UniProtKB:P01116#VAR_064852
single nucleotide variant	NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	KRAS	Likely pathogenic	12	25378643	25378643	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA296084
single nucleotide variant	NM_004985.5(KRAS):c.458A>G (p.Asp153Gly)	KRAS	Pathogenic/Likely pathogenic	12	25362838	25362838	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261707
single nucleotide variant	NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	NRAS	Pathogenic	1	115258748	115258748	C	A	criteria provided, single submitter	COSMIC:562,ClinGen:CA297020,UniProtKB:P01111#VAR_021194
single nucleotide variant	NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	NRAS	Pathogenic	1	115258748	115258748	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA297030
single nucleotide variant	NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	NRAS	Pathogenic/Likely pathogenic	1	115258747	115258747	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261525