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_002834.5(PTPN11):c.213T>G (p.Phe71Leu)	PTPN11	Pathogenic/Likely pathogenic	12	112888197	112888197	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA386777847
single nucleotide variant	NM_006767.4(LZTR1):c.1149+1G>A	LZTR1	Pathogenic/Likely pathogenic	22	21346659	21346659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322328053
Deletion	NM_006767.4(LZTR1):c.1005_1012del (p.Glu336fs)	LZTR1	Pathogenic/Likely pathogenic	22	21346512	21346519	GGCTGAAGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118694
single nucleotide variant	NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys)	PPP1CB	Pathogenic/Likely pathogenic	2	29011589	29011589	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346583250
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
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_004333.6(BRAF):c.1798G>C (p.Val600Leu)	BRAF	Pathogenic/Likely pathogenic	7	140453137	140453137	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602737
single nucleotide variant	NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	KRAS	Pathogenic/Likely pathogenic	12	25378562	25378562	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602441
Deletion	NM_006767.4(LZTR1):c.774del (p.Phe258fs)	LZTR1	Pathogenic/Likely pathogenic	22	21344795	21344795	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118607
Duplication	NM_006767.4(LZTR1):c.27dup (p.Gln10fs)	LZTR1	Pathogenic/Likely pathogenic	22	21336680	21336681	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10118264