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
single nucleotide variant	NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)	RAF1	Pathogenic/Likely pathogenic	3	12645690	12645690	G	T	criteria provided, multiple submitters, no conflicts	-
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_006767.4(LZTR1):c.649G>T (p.Glu217Ter)	LZTR1	Pathogenic/Likely pathogenic	22	21343969	21343969	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002834.5(PTPN11):c.766C>A (p.Gln256Lys)	PTPN11	Pathogenic/Likely pathogenic	12	112910757	112910757	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006767.4(LZTR1):c.1785+1G>A	LZTR1	Pathogenic/Likely pathogenic	22	21349017	21349017	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_006767.4(LZTR1):c.1030del (p.Ser344fs)	LZTR1	Pathogenic/Likely pathogenic	22	21346538	21346538	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799496
Deletion	NM_006767.4(LZTR1):c.150_151del (p.Val51fs)	LZTR1	Pathogenic/Likely pathogenic	22	21336810	21336811	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA513488675
single nucleotide variant	NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)	BRAF	Pathogenic/Likely pathogenic	7	140476832	140476832	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA369588212
single nucleotide variant	NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)	SOS1	Pathogenic/Likely pathogenic	2	39239450	39239450	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346364396
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