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_006912.6(RIT1):c.69A>C (p.Lys23Asn)	RIT1	Pathogenic	1	155880484	155880484	T	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup)	BRAF	Likely pathogenic	7	140477800	140477801	C	CCTA	criteria provided, single submitter	-
single nucleotide variant	NM_006939.4(SOS2):c.800T>G (p.Met267Arg)	SOS2	Pathogenic/Likely pathogenic	14	50649239	50649239	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002834.5(PTPN11):c.782T>A (p.Leu261His)	PTPN11	Likely pathogenic	12	112910773	112910773	T	A	reviewed by expert panel	-
Indel	NM_002834.5(PTPN11):c.1506_1507delinsCC (p.Gly503Arg)	PTPN11	Pathogenic	12	112926886	112926887	AG	CC	criteria provided, single submitter	-
single nucleotide variant	NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)	BRAF	Likely pathogenic	7	140481421	140481421	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)	LZTR1	Pathogenic	22	21343948	21343948	C	T	criteria provided, multiple submitters, no conflicts	OMIM:600574.0010
Duplication	NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup)	BRAF	Likely pathogenic	7	140481399	140481400	G	GTTCCAAATGATCCAGATCCAA	criteria provided, single submitter	-
single nucleotide variant	NM_002880.4(RAF1):c.769T>A (p.Ser257Thr)	RAF1	Likely pathogenic	3	12645700	12645700	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_006767.4(LZTR1):c.842del (p.Pro281fs)	LZTR1	Likely pathogenic	22	21345963	21345963	AC	A	criteria provided, single submitter	-