C4014528[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443007	NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)	SOX11 (C29*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443023	NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)	SOX11 (G47S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 1301272	NM_003108.4(SOX11):c.142C>G (p.His48Asp)	SOX11 (H48D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GUncertain significance
Select item 2443028	NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)	SOX11 (I49N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443030	NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)	SOX11 (K50Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443029	NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)	SOX11 (K50N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443031	NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)	SOX11 (R51G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1493563	NM_003108.4(SOX11):c.151C>T (p.Arg51Trp)	SOX11 (R51W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2443008	NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)	SOX11 (R51L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1067260	NM_003108.4(SOX11):c.152G>A (p.Arg51Gln)	SOX11 (R51Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GLikely pathogenic
Select item 2443009	NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)	SOX11 (P52L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GPathogenic/Likely pathogenic
Select item 2443012	NM_003108.4(SOX11):c.157A>G (p.Met53Val)	SOX11 (M53V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443011	NM_003108.4(SOX11):c.158T>G (p.Met53Arg)	SOX11 (M53R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443010	NM_003108.4(SOX11):c.159G>A (p.Met53Ile)	SOX11 (M53I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1067424	NM_003108.4(SOX11):c.168C>G (p.Phe56Leu)	SOX11 (F56L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1686222	NM_003108.4(SOX11):c.170T>C (p.Met57Thr)	SOX11 (M57T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GPathogenic/Likely pathogenic
Select item 2443014	NM_003108.4(SOX11):c.176G>A (p.Trp59Ter)	SOX11 (W59*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 27	GPathogenic
Select item 2443013	NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)	SOX11 (R64S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1705386	NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)	SOX11 (R64C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443015	NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)	SOX11 (R64L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2430907	NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)	SOX11 (R64P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27 +1 more	GLikely pathogenic
Select item 2443016	NM_003108.4(SOX11):c.223C>G (p.His75Asp)	SOX11 (H75D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 970628	NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)	SOX11 (N76D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2443017	NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)	SOX11 (G84S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443018	NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)	SOX11 (W87R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443019	NM_003108.4(SOX11):c.294C>G (p.Phe98Leu)	SOX11 (F98L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 420675	NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)	SOX11 (R100P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 870388	NM_003108.4(SOX11):c.305C>T (p.Ala102Val)	SOX11 (A102V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443020	NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)	SOX11 (R106P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443021	NM_003108.4(SOX11):c.326A>C (p.His109Pro)	SOX11 (H109P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443024	NM_003108.4(SOX11):c.337T>C (p.Tyr113His)	SOX11 (Y113H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443025	NM_003108.4(SOX11):c.359C>A (p.Pro120His)	SOX11 (P120H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443026	NM_003108.4(SOX11):c.425C>G (p.Ala142Gly)	SOX11 (A142G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 2443022	NM_003108.4(SOX11):c.527C>A (p.Ala176Glu)	SOX11 (A176E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 1029671	NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)	SOX11 (E234*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2443027	NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)	SOX11 (K274*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 27	GLikely pathogenic

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Items: 36