"Ambry Genetics"[submitter] AND "SOX5"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2329087	NM_006940.6(SOX5):c.2221G>A (p.Glu741Lys)	SOX5 (E355K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167799	NM_006940.6(SOX5):c.2134A>G (p.Thr712Ala)	SOX5 (T699A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3167798	NM_006940.6(SOX5):c.2127C>G (p.Ile709Met)	SOX5 (I323M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2498547	NM_006940.6(SOX5):c.2092G>A (p.Val698Met)	SOX5 (V312M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3167797	NM_006940.6(SOX5):c.1848C>G (p.His616Gln)	SOX5 (H495Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 695083	NM_006940.6(SOX5):c.1678A>G (p.Met560Val)	SOX5 (M560V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 695082	NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)	SOX5 (S417* +5 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 3321650	NM_006940.6(SOX5):c.1584T>A (p.Ser528Arg)	SOX5 (S142R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 695081	NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)	SOX5 (R107* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 3167796	NM_006940.6(SOX5):c.1457G>A (p.Ser486Asn)	SOX5 (S476N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3321652	NM_006940.6(SOX5):c.1397T>C (p.Met466Thr)	SOX5 (M456T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330767	NM_006940.6(SOX5):c.1373A>G (p.Lys458Arg)	SOX5 (K445R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3167795	NM_006940.6(SOX5):c.1340T>C (p.Ile447Thr)	SOX5 (I412T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352289	NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)	SOX5 (G414D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3167794	NM_006940.6(SOX5):c.1238C>T (p.Thr413Ile)	SOX5 (T400I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2314118	NM_006940.6(SOX5):c.1235C>T (p.Pro412Leu)	SOX5 (P26L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 592122	NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)	SOX5 (G346S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3167802	NM_006940.6(SOX5):c.979G>A (p.Ala327Thr)	SOX5 (A327T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3167801	NM_006940.6(SOX5):c.970G>A (p.Ala324Thr)	SOX5 (A311T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985465	NM_006940.6(SOX5):c.931+1G>C	SOX5	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 2474925	NM_006940.6(SOX5):c.892T>C (p.Phe298Leu)	SOX5 (F298L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522101	NM_006940.6(SOX5):c.747_748del (p.Arg250fs)	SOX5 (R215fs +3 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2361296	NM_006940.6(SOX5):c.704G>A (p.Arg235His)	SOX5 (R222H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2306466	NM_006940.6(SOX5):c.683C>T (p.Ala228Val)	SOX5 (A215V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 545592	NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)	SOX5 (Q195* +3 more)	Single nucleotide variant (nonsense)	Lamb-Shaffer syndrome +1 more	GPathogenic
Select item 2538645	NM_006940.6(SOX5):c.539T>C (p.Met180Thr)	SOX5 (M145T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494788	NM_006940.6(SOX5):c.485C>T (p.Thr162Ile)	SOX5 (T152I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603031	NM_006940.6(SOX5):c.331C>G (p.Gln111Glu)	SOX5 (Q101E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321649	NM_006940.6(SOX5):c.322A>G (p.Thr108Ala)	SOX5 (T108A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266343	NM_006940.6(SOX5):c.239A>G (p.His80Arg)	SOX5 (H70R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3321647	NM_006940.6(SOX5):c.230C>A (p.Thr77Asn)	SOX5 (T64N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622858	NM_006940.6(SOX5):c.227A>C (p.Glu76Ala)	SOX5 (E63A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231853	NM_006940.6(SOX5):c.184C>T (p.Pro62Ser)	SOX5 (P49S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 986009	NM_006940.6(SOX5):c.179A>G (p.Asn60Ser)	SOX5 (N47S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3321648	NM_006940.6(SOX5):c.135C>A (p.Asp45Glu)	SOX5 (D32E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379097	NM_006940.6(SOX5):c.131G>A (p.Ser44Asn)	SOX5 (S31N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603352	NM_006940.6(SOX5):c.119A>G (p.Glu40Gly)	SOX5 (E27G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321651	NM_006940.6(SOX5):c.118G>C (p.Glu40Gln)	SOX5 (E40Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167800	NM_006940.6(SOX5):c.65C>T (p.Pro22Leu)	SOX5 (P9L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 39