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_001085049.3(MRAS):c.67G>C (p.Gly23Arg)	MRAS	Likely pathogenic	3	138091792	138091792	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002524.5(NRAS):c.178G>A (p.Gly60Arg)	NRAS	Likely pathogenic	1	115256533	115256533	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_006912.6(RIT1):c.268A>G (p.Met90Val)	RIT1	Pathogenic	1	155874263	155874263	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)	RIT1	Pathogenic	1	155874530	155874530	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)	BRAF	Pathogenic	7	140434507	140434507	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002834.5(PTPN11):c.330A>C (p.Glu110Asp)	PTPN11	Likely pathogenic	12	112888314	112888314	A	C	criteria provided, single submitter	-
Deletion	NM_002834.5(PTPN11):c.505del (p.His169fs)	PTPN11	Pathogenic	12	112891169	112891169	AC	A	criteria provided, single submitter	-
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_033360.4(KRAS):c.*11G>A	KRAS	Pathogenic	12	25362839	25362839	C	T	criteria provided, single submitter	-
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	-