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_002834.5(PTPN11):c.412C>T (p.Arg138Ter)	PTPN11	Pathogenic	12	112891078	112891078	C	T	criteria provided, single submitter	ClinGen:CA123050,OMIM:176876.0026
single nucleotide variant	NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	PTPN11	Pathogenic/Likely pathogenic	12	112856920	112856920	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256764,UniProtKB:Q06124#VAR_027183,OMIM:176876.0027
single nucleotide variant	NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)	MAP2K1	Pathogenic	15	66727442	66727442	T	C	reviewed by expert panel	ClinGen:CA279966,UniProtKB:Q02750#VAR_035093,OMIM:176872.0001
single nucleotide variant	NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	MAP2K1	Pathogenic	15	66729181	66729181	A	G	reviewed by expert panel	ClinGen:CA280036,UniProtKB:Q02750#VAR_035094,OMIM:176872.0002
single nucleotide variant	NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)	MAP2K1	Pathogenic/Likely pathogenic	15	66729175	66729175	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA280038,UniProtKB:Q02750#VAR_069780,OMIM:176872.0003
single nucleotide variant	NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	NRAS	Likely pathogenic	1	115258745	115258745	C	G	criteria provided, single submitter	ClinGen:CA151261,UniProtKB:P01111#VAR_006845,OMIM:164790.0001
single nucleotide variant	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS	Pathogenic	1	115256529	115256529	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA123618,UniProtKB:P01111#VAR_006847,OMIM:164790.0002
single nucleotide variant	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS	Pathogenic/Likely pathogenic	1	115258744	115258744	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123620,UniProtKB:P01111#VAR_063084,OMIM:164790.0003
single nucleotide variant	NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	NRAS	Pathogenic	1	115256562	115256562	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257019,UniProtKB:P01111#VAR_063085,OMIM:164790.0004
single nucleotide variant	NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	NRAS	Pathogenic	1	115256532	115256532	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257021,UniProtKB:P01111#VAR_063086,OMIM:164790.0005