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_004985.5(KRAS):c.179G>T (p.Gly60Val)	KRAS	Pathogenic/Likely pathogenic	12	25380279	25380279	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA176493
single nucleotide variant	NM_004985.5(KRAS):c.108A>G (p.Ile36Met)	KRAS	Pathogenic/Likely pathogenic	12	25398211	25398211	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273162,UniProtKB:P01116#VAR_064854
single nucleotide variant	NM_004985.5(KRAS):c.214A>T (p.Met72Leu)	KRAS	Pathogenic/Likely pathogenic	12	25380244	25380244	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273592
single nucleotide variant	NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)	PTPN11	Pathogenic/Likely pathogenic	12	112892440	112892440	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273218
single nucleotide variant	NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	PTPN11	Pathogenic/Likely pathogenic	12	112888198	112888198	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA180706,UniProtKB:Q06124#VAR_015996
single nucleotide variant	NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala)	PTPN11	Pathogenic/Likely pathogenic	12	112888166	112888166	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273600
single nucleotide variant	NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)	BRAF	Pathogenic/Likely pathogenic	7	140481403	140481403	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA180746,UniProtKB:P15056#VAR_018622
single nucleotide variant	NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	RIT1	Pathogenic/Likely pathogenic	1	155874261	155874261	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA150798,UniProtKB:Q92963#VAR_070156
single nucleotide variant	NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	RAF1	Pathogenic/Likely pathogenic	3	12645687	12645687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267618,UniProtKB:P04049#VAR_037813
single nucleotide variant	NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	PTPN11	Pathogenic/Likely pathogenic	12	112888163	112888163	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA284662,UniProtKB:Q06124#VAR_015990