Related gene-specific medical variations for Gene (Select 6664) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255502	NM_003108.4(SOX11):c.1013C>A (p.Ser338Ter)	SOX11 (S338*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 2683929	NM_003108.4(SOX11):c.1148del (p.Gly383fs)	SOX11 (G383fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 2436255	NM_003108.4(SOX11):c.1153G>T (p.Ala385Ser)	SOX11 (A385S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 2436254	NM_003108.4(SOX11):c.400G>T (p.Ala134Ser)	SOX11 (A134S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 1679569	NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr)	SOX11 (A385T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 1527770	GRCh37/hg19 2p25.2(chr2:5449964-6357647)	SOX11	Copy number loss	not specified	GPathogenic
Select item 1344679	NM_003108.4(SOX11):c.191G>A (p.Arg64His)	SOX11 (R64H)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1184366	NM_003108.4(SOX11):c.727C>G (p.Pro243Ala)	SOX11 (P243A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 996986	NM_003108.4(SOX11):c.538G>A (p.Ala180Thr)	SOX11 (A180T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GUncertain significance
Select item 986913	NM_003108.4(SOX11):c.1009C>G (p.Arg337Gly)	SOX11 (R337G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 986819	NM_003108.4(SOX11):c.323A>C (p.Lys108Thr)	SOX11 (K108T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 974893	NM_003108.4(SOX11):c.359C>T (p.Pro120Leu)	SOX11 (P120L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 814214	GRCh37/hg19 2p25.2(chr2:5810742-5866838)x1	SOX11	Copy number loss	not provided	GLikely pathogenic
Select item 591482	NM_003108.4(SOX11):c.456_467dup (p.Gly153_Gly156dup)	SOX11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 444486	NM_003108.4(SOX11):c.511A>T (p.Lys171Ter)	SOX11 (K171*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 376817	NM_003108.4(SOX11):c.429CGG[7] (p.Gly147_Gly148dup)	SOX11	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 156778	Single allele	SOX11	Duplication	Preeclampsia	Gnot provided