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.211T>G (p.Tyr71Asp)	KRAS	Likely pathogenic	12	25380247	25380247	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576919
single nucleotide variant	NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	MAP2K1	Pathogenic	15	66729156	66729156	A	G	reviewed by expert panel	ClinGen:CA10576999
single nucleotide variant	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	PPP1CB	Pathogenic	2	28999810	28999810	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586682,UniProtKB:P62140#VAR_076839,OMIM:600590.0001
single nucleotide variant	NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala)	PPP1CB	Pathogenic	2	29006800	29006800	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586683,OMIM:600590.0003
single nucleotide variant	NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val)	PPP1CB	Pathogenic	2	29006800	29006800	A	T	criteria provided, single submitter	ClinGen:CA10586684,OMIM:600590.0004
single nucleotide variant	NM_002709.3(PPP1CB):c.754G>T (p.Asp252Tyr)	PPP1CB	Likely pathogenic	2	29016738	29016738	G	T	criteria provided, single submitter	ClinGen:CA10586685
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_004333.6(BRAF):c.1593G>T (p.Trp531Cys)	BRAF	Pathogenic	7	140476813	140476813	C	A	criteria provided, single submitter	ClinGen:CA10588419,UniProtKB:P15056#VAR_058627
Indel	NM_002834.5(PTPN11):c.1402_1403delinsGA (p.Thr468Glu)	PTPN11	Pathogenic	12	112926269	112926270	AC	GA	criteria provided, single submitter	ClinGen:CA10588539
single nucleotide variant	NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)	PTPN11	Pathogenic/Likely pathogenic	12	112926900	112926900	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588540