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_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
Deletion	NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)	MAP2K1	Likely pathogenic	15	66727457	66727459	CAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA354831,OMIM:176872.0004
single nucleotide variant	NM_033360.4(KRAS):c.175G>T (p.Ala59Ser)	KRAS	Pathogenic/Likely pathogenic	12	25380283	25380283	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA354836
single nucleotide variant	NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	BRAF	Pathogenic/Likely pathogenic	7	140476832	140476832	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA354839,UniProtKB:P15056#VAR_058626
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_004333.6(BRAF):c.1399T>G (p.Ser467Ala)	BRAF	Pathogenic	7	140481409	140481409	A	C	criteria provided, single submitter	ClinGen:CA357002,UniProtKB:P15056#VAR_035096
single nucleotide variant	NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)	MAP2K1	Pathogenic	15	66727455	66727455	G	T	criteria provided, single submitter	ClinGen:CA356995,OMIM:176872.0007
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_002880.4(RAF1):c.775T>C (p.Ser259Pro)	RAF1	Pathogenic/Likely pathogenic	3	12645694	12645694	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576602
single nucleotide variant	NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr)	PTPN11	Pathogenic	12	112888165	112888165	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576907,UniProtKB:Q06124#VAR_015992