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_006912.6(RIT1):c.270G>C (p.Met90Ile)	RIT1	Pathogenic/Likely pathogenic	1	155874261	155874261	C	G	criteria provided, multiple submitters, no conflicts	UniProtKB:Q92963#VAR_070156,OMIM:609591.0006,ClinGen:CA1151814
single nucleotide variant	NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	RIT1	Pathogenic/Likely pathogenic	1	155874530	155874530	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353870
single nucleotide variant	NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	RIT1	Pathogenic/Likely pathogenic	1	155874289	155874289	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353880,UniProtKB:Q92963#VAR_070151,OMIM:609591.0002
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_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_002834.5(PTPN11):c.172A>T (p.Asn58Tyr)	PTPN11	Pathogenic/Likely pathogenic	12	112888156	112888156	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA297070
single nucleotide variant	NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)	SOS1	Pathogenic/Likely pathogenic	2	39250259	39250259	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297264
single nucleotide variant	NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg)	SOS1	Pathogenic/Likely pathogenic	2	39250139	39250139	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297270,UniProtKB:Q07889#VAR_064505
single nucleotide variant	NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	RIT1	Pathogenic/Likely pathogenic	1	155874285	155874285	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA297161,UniProtKB:Q92963#VAR_070152,OMIM:609591.0003
single nucleotide variant	NM_004333.6(BRAF):c.785A>G (p.Gln262Arg)	BRAF	Pathogenic/Likely pathogenic	7	140501287	140501287	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235367