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_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	SOS1	Pathogenic	2	39249913	39249913	C	G	reviewed by expert panel	ClinGen:CA256580,UniProtKB:Q07889#VAR_030436,OMIM:182530.0005
single nucleotide variant	NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)	SOS1	Pathogenic	2	39250275	39250275	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA256582,UniProtKB:Q07889#VAR_030428,OMIM:182530.0006
single nucleotide variant	NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	PTPN11	Pathogenic	12	112888198	112888198	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256749,UniProtKB:Q06124#VAR_015608,OMIM:176876.0001
single nucleotide variant	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	PTPN11	Pathogenic/Likely pathogenic	12	112888199	112888199	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA235319,UniProtKB:Q06124#VAR_015607,OMIM:176876.0002
single nucleotide variant	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11	Pathogenic	12	112915523	112915523	A	G	reviewed by expert panel	ClinGen:CA220158,UniProtKB:Q06124#VAR_015619,OMIM:176876.0003
single nucleotide variant	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	PTPN11	Pathogenic	12	112915524	112915524	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA235328,UniProtKB:Q06124#VAR_015618,OMIM:176876.0004
single nucleotide variant	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	PTPN11	Pathogenic/Likely pathogenic	12	112910827	112910827	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220149,UniProtKB:Q06124#VAR_015614,OMIM:176876.0005
single nucleotide variant	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	PTPN11	Pathogenic	12	112888168	112888168	T	G	reviewed by expert panel	ClinGen:CA234749,UniProtKB:Q06124#VAR_015605,OMIM:176876.0009
single nucleotide variant	NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	PTPN11	Pathogenic	12	112888166	112888166	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA177665,UniProtKB:Q06124#VAR_015603,OMIM:176876.0010
single nucleotide variant	NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	PTPN11	Pathogenic	12	112926270	112926270	C	T	reviewed by expert panel	ClinGen:CA220134,OMIM:176876.0006