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.211T>G (p.Phe71Val)	PTPN11	Pathogenic	12	112888195	112888195	T	G	criteria provided, single submitter	ClinGen:CA297073
single nucleotide variant	NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)	PTPN11	Pathogenic	12	112888210	112888210	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297076
single nucleotide variant	NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)	PTPN11	Pathogenic/Likely pathogenic	12	112915455	112915455	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA297085
single nucleotide variant	NM_033360.4(KRAS):c.68T>G (p.Leu23Arg)	KRAS	Likely pathogenic	12	25398251	25398251	A	C	criteria provided, single submitter	ClinGen:CA296092
single nucleotide variant	NM_006912.6(RIT1):c.265T>C (p.Tyr89His)	RIT1	Pathogenic	1	155874266	155874266	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353873,UniProtKB:Q92963#VAR_070155
single nucleotide variant	NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	RIT1	Pathogenic/Likely pathogenic	1	155874280	155874280	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353881
single nucleotide variant	NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	RIT1	Pathogenic	1	155874284	155874284	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353876,UniProtKB:Q92963#VAR_070154
single nucleotide variant	NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	RIT1	Pathogenic	1	155874287	155874287	A	C	criteria provided, multiple submitters, no conflicts	UniProtKB:Q92963#VAR_070153,OMIM:609591.0005,ClinGen:CA353883
single nucleotide variant	NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	RIT1	Pathogenic	1	155874287	155874287	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353877,UniProtKB:Q92963#VAR_070152
single nucleotide variant	NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)	RIT1	Pathogenic	1	155874287	155874287	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353868