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.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
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.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.104G>C (p.Ser35Thr)	RIT1	Pathogenic	1	155880449	155880449	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353872,UniProtKB:Q92963#VAR_070149
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_002524.5(NRAS):c.35G>C (p.Gly12Ala)	NRAS	Pathogenic/Likely pathogenic	1	115258747	115258747	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280928
single nucleotide variant	NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)	NRAS	Pathogenic	1	115258711	115258711	A	T	criteria provided, single submitter	ClinGen:CA356968
single nucleotide variant	NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)	RIT1	Pathogenic/Likely pathogenic	1	155874530	155874530	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576360
single nucleotide variant	NM_006912.6(RIT1):c.270G>T (p.Met90Ile)	RIT1	Pathogenic	1	155874261	155874261	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588268,UniProtKB:Q92963#VAR_070156