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.1322G>A (p.Cys441Tyr)	SOS1	Pathogenic	2	39250247	39250247	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273441,UniProtKB:Q07889#VAR_030431
single nucleotide variant	NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	SOS1	Pathogenic	2	39249927	39249927	T	G	reviewed by expert panel	ClinGen:CA234977,UniProtKB:Q07889#VAR_030432
single nucleotide variant	NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)	SOS1	Pathogenic	2	39249925	39249925	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA297272,UniProtKB:Q07889#VAR_030432
single nucleotide variant	NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)	SOS1	Pathogenic	2	39249920	39249920	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261724,UniProtKB:Q07889#VAR_030433
single nucleotide variant	NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	SOS1	Likely pathogenic	2	39249914	39249914	C	A	reviewed by expert panel	ClinGen:CA16616762
single nucleotide variant	NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	SOS1	Pathogenic	2	39249914	39249914	C	G	reviewed by expert panel	ClinGen:CA261728,UniProtKB:Q07889#VAR_066049
single nucleotide variant	NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	SOS1	Pathogenic	2	39249914	39249914	C	T	reviewed by expert panel	ClinGen:CA261726,UniProtKB:Q07889#VAR_030435
single nucleotide variant	NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)	SOS1	Pathogenic	2	39249913	39249913	C	A	reviewed by expert panel	ClinGen:CA261730,UniProtKB:Q07889#VAR_030436,LOVD 3:SOS1_000053,OMIM:182530.0005
single nucleotide variant	NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)	SOS1	Pathogenic	2	39240664	39240664	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273696,UniProtKB:Q07889#VAR_030438
single nucleotide variant	NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile)	SOS1	Pathogenic/Likely pathogenic	2	39239474	39239474	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261731