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>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.245T>G (p.Phe82Cys)	RIT1	Pathogenic	1	155874286	155874286	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042308
single nucleotide variant	NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)	RIT1	Pathogenic	1	155874285	155874285	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040628,UniProtKB:Q92963#VAR_070152
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_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.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.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.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.270G>T (p.Met90Ile)	RIT1	Pathogenic	1	155874261	155874261	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588268,UniProtKB:Q92963#VAR_070156
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