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.785A>G (p.Asn262Ser)	RAF1	Likely pathogenic	3	12645684	12645684	T	C	criteria provided, single submitter	-
Indel	NM_004333.6(BRAF):c.1441_1442delinsAA (p.Ala481Lys)	BRAF	Likely pathogenic	7	140477866	140477867	GC	TT	criteria provided, single submitter	-
single nucleotide variant	NM_002834.5(PTPN11):c.853T>A (p.Phe285Ile)	PTPN11	Pathogenic	12	112910844	112910844	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)	LZTR1	Likely pathogenic	22	21344753	21344753	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_033360.4(KRAS):c.189G>C (p.Glu63Asp)	KRAS	Likely pathogenic	12	25380269	25380269	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004985.5(KRAS):c.451-5642A>T	KRAS	Likely pathogenic	12	25368487	25368487	T	A	criteria provided, single submitter	-
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_004333.6(BRAF):c.1096G>C (p.Ala366Pro)	BRAF	Likely pathogenic	7	140494152	140494152	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)	BRAF	Pathogenic	7	140476814	140476814	C	G	criteria provided, single submitter	-
Indel	NM_005633.4(SOS1):c.1293_1294delinsGA (p.Trp432Arg)	SOS1	Likely pathogenic	2	39250275	39250276	AA	TC	criteria provided, single submitter	-