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.253T>A (p.Trp85Arg)	SOS1	Pathogenic	2	39285906	39285906	A	T	criteria provided, single submitter	ClinGen:CA297298
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_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.1654A>G (p.Arg552Gly)	SOS1	Pathogenic	2	39249915	39249915	T	C	reviewed by expert panel	ClinGen:CA235350,UniProtKB:Q07889#VAR_030434,OMIM:182530.0004
single nucleotide variant	NM_005633.4(SOS1):c.806T>G (p.Met269Arg)	SOS1	Pathogenic	2	39278343	39278343	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235346,UniProtKB:Q07889#VAR_030425,OMIM:182530.0003
single nucleotide variant	NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	SOS1	Pathogenic	2	39278352	39278352	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256578,UniProtKB:Q07889#VAR_030424,OMIM:182530.0002
Duplication	NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)	SOS1	Likely pathogenic	2	39222361	39222362	T	TG	criteria provided, single submitter	OMIM:182530.0001,ClinGen:CA122763
single nucleotide variant	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2	Pathogenic	10	112724120	112724120	A	G	reviewed by expert panel	ClinGen:CA118524,UniProtKB:Q9UQ13#VAR_060199,OMIM:602775.0001
single nucleotide variant	NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)	RRAS2	Pathogenic	11	14380349	14380349	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)	RRAS2	Pathogenic	11	14380343	14380344	A	ACGCCGCCCC	criteria provided, single submitter	-