ヌーナン症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)	SOS1	Likely pathogenic	2	39222361	39222362	T	TG	criteria provided, single submitter	OMIM:182530.0001,ClinGen:CA122763
single nucleotide variant	NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	NRAS	Likely pathogenic	1	115258745	115258745	C	G	criteria provided, single submitter	ClinGen:CA151261,UniProtKB:P01111#VAR_006845,OMIM:164790.0001
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_004333.6(BRAF):c.740T>C (p.Phe247Ser)	BRAF	Likely pathogenic	7	140501332	140501332	A	G	reviewed by expert panel	-
single nucleotide variant	NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)	BRAF	Likely pathogenic	7	140481417	140481417	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004333.6(BRAF):c.1411G>A (p.Val471Ile)	BRAF	Likely pathogenic	7	140481397	140481397	C	T	criteria provided, single submitter	ClinGen:CA281971
single nucleotide variant	NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	BRAF	Likely pathogenic	7	140477854	140477854	A	G	reviewed by expert panel	ClinGen:CA280052
single nucleotide variant	NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu)	BRAF	Likely pathogenic	7	140476814	140476814	C	A	criteria provided, single submitter	ClinGen:CA281983
single nucleotide variant	NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr)	BRAF	Likely pathogenic	7	140476811	140476811	C	T	reviewed by expert panel	ClinGen:CA175337
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