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.178G>C (p.Gly60Arg)	PTPN11	Pathogenic/Likely pathogenic	12	112888162	112888162	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042862
single nucleotide variant	NM_002834.5(PTPN11):c.1051C>T (p.Arg351Ter)	PTPN11	Pathogenic	12	112915778	112915778	C	T	criteria provided, single submitter	ClinGen:CA16042873
single nucleotide variant	NM_033360.4(KRAS):c.15A>C (p.Lys5Asn)	KRAS	Pathogenic	12	25398304	25398304	T	G	criteria provided, single submitter	ClinGen:CA16042877
Deletion	NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del)	MAP2K1	Likely pathogenic	15	66727468	66727482	AGAACTGAAGGATGAC	A	criteria provided, single submitter	ClinGen:CA16042894
single nucleotide variant	NM_006939.4(SOS2):c.800T>C (p.Met267Thr)	SOS2	Pathogenic	14	50649239	50649239	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16021010
Deletion	NM_002755.4(MAP2K1):c.179_193del (p.Val60_Lys64del)	MAP2K1	Likely pathogenic	15	66727458	66727472	AGAAGGTGGGAGAACT	A	criteria provided, single submitter	ClinGen:CA16042952
single nucleotide variant	NM_002755.4(MAP2K1):c.371C>G (p.Pro124Arg)	MAP2K1	Pathogenic	15	66729163	66729163	C	G	criteria provided, single submitter	ClinGen:CA16042967
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
single nucleotide variant	NM_006767.4(LZTR1):c.737A>C (p.Gln246Pro)	LZTR1	Likely pathogenic	22	21344760	21344760	A	C	criteria provided, single submitter	ClinGen:CA16043174
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