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_005633.4(SOS1):c.697A>T (p.Asn233Tyr)	SOS1	Likely pathogenic	2	39281778	39281778	T	A	criteria provided, single submitter	ClinGen:CA16602968
single nucleotide variant	NM_006767.4(LZTR1):c.1250A>C (p.Tyr417Ser)	LZTR1	Likely pathogenic	22	21347183	21347183	A	C	criteria provided, single submitter	ClinGen:CA16608588
Deletion	NC_000012.12:g.(?_112477651)_(112478015_?)del	PTPN11	Likely pathogenic	12	112915455	112915819	na	na	criteria provided, single submitter	-
Insertion	NM_033360.4(KRAS):c.31_32insGGC (p.Ala11delinsGlyPro)	KRAS	Pathogenic	12	25398287	25398288	G	GGCC	criteria provided, single submitter	ClinGen:CA16619504
single nucleotide variant	NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)	LZTR1	Pathogenic/Likely pathogenic	22	21342407	21342407	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118451
single nucleotide variant	NM_002880.4(RAF1):c.778A>C (p.Thr260Pro)	RAF1	Pathogenic/Likely pathogenic	3	12645691	12645691	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351512415
Duplication	NM_006767.4(LZTR1):c.1317_1323dup (p.Phe442fs)	LZTR1	Likely pathogenic	22	21348004	21348005	G	GAGCCGCC	criteria provided, single submitter	ClinGen:CA645369794
Deletion	NM_004333.6(BRAF):c.2128-4_2129del	BRAF	Pathogenic	7	140434570	140434575	AATCTAC	A	criteria provided, single submitter	ClinGen:CA645372452
single nucleotide variant	NM_033360.4(KRAS):c.440A>G (p.Lys147Arg)	KRAS	Pathogenic	12	25378558	25378558	T	C	criteria provided, single submitter	ClinGen:CA384151064
single nucleotide variant	NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	KRAS	Likely pathogenic	12	25380264	25380264	C	A	reviewed by expert panel	ClinGen:CA384152083