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

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Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167388	NM_018013.4(SOBP):c.32C>A (p.Pro11His)	SOBP (P11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321381	NM_018013.4(SOBP):c.196A>G (p.Thr66Ala)	SOBP (T66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167387	NM_018013.4(SOBP):c.242C>G (p.Ser81Cys)	SOBP (S81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212286	NM_018013.4(SOBP):c.265G>A (p.Glu89Lys)	SOBP (E89K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032014	NM_018013.4(SOBP):c.415C>T (p.Pro139Ser)	SOBP (P139S)	Single nucleotide variant (missense variant)	Intellectual disability, anterior maxillary protrusion, and strabismus +1 more	GUncertain significance
Select item 3167389	NM_018013.4(SOBP):c.416C>A (p.Pro139Gln)	SOBP (P139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244717	NM_018013.4(SOBP):c.444A>C (p.Gln148His)	SOBP (Q148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397725	NM_018013.4(SOBP):c.458G>C (p.Trp153Ser)	SOBP (W153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544804	NM_018013.4(SOBP):c.526G>A (p.Glu176Lys)	SOBP (E176K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299911	NM_018013.4(SOBP):c.539C>T (p.Ala180Val)	SOBP (A180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679784	NM_018013.4(SOBP):c.622G>A (p.Ala208Thr)	SOBP (A208T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2318189	NM_018013.4(SOBP):c.631A>G (p.Thr211Ala)	SOBP (T211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475912	NM_018013.4(SOBP):c.639G>T (p.Arg213Ser)	SOBP (R213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167390	NM_018013.4(SOBP):c.889C>T (p.Pro297Ser)	SOBP (P297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238727	NM_018013.4(SOBP):c.922C>G (p.Arg308Gly)	SOBP (R308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236919	NM_018013.4(SOBP):c.931G>T (p.Ala311Ser)	SOBP (A311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321378	NM_018013.4(SOBP):c.976C>G (p.Pro326Ala)	SOBP (P326A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321385	NM_018013.4(SOBP):c.1034T>G (p.Ile345Ser)	SOBP (I345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167376	NM_018013.4(SOBP):c.1052A>G (p.Lys351Arg)	SOBP (K351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301389	NM_018013.4(SOBP):c.1078A>C (p.Asn360His)	SOBP (N360H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477247	NM_018013.4(SOBP):c.1117G>C (p.Gly373Arg)	SOBP (G373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167377	NM_018013.4(SOBP):c.1154T>C (p.Met385Thr)	SOBP (M385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267970	NM_018013.4(SOBP):c.1273C>A (p.Pro425Thr)	SOBP (P425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243625	NM_018013.4(SOBP):c.1384C>T (p.Pro462Ser)	SOBP (P462S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167378	NM_018013.4(SOBP):c.1396C>A (p.Pro466Thr)	SOBP (P466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167379	NM_018013.4(SOBP):c.1445G>C (p.Gly482Ala)	SOBP (G482A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167380	NM_018013.4(SOBP):c.1472C>T (p.Pro491Leu)	SOBP (P491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167381	NM_018013.4(SOBP):c.1516A>G (p.Met506Val)	SOBP (M506V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532993	NM_018013.4(SOBP):c.1691C>G (p.Pro564Arg)	SOBP (P564R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592190	NM_018013.4(SOBP):c.1712C>T (p.Ala571Val)	SOBP (A571V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436829	NM_018013.4(SOBP):c.1729C>T (p.Pro577Ser)	SOBP (P577S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2329001	NM_018013.4(SOBP):c.1734C>A (p.Ser578Arg)	SOBP (S578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400262	NM_018013.4(SOBP):c.1739A>G (p.His580Arg)	SOBP (H580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276909	NM_018013.4(SOBP):c.1748C>A (p.Ser583Tyr)	SOBP (S583Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527817	NM_018013.4(SOBP):c.1753C>T (p.Arg585Trp)	SOBP (R585W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594488	NM_018013.4(SOBP):c.1760C>T (p.Ser587Phe)	SOBP (S587F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239321	NM_018013.4(SOBP):c.1788C>G (p.Asp596Glu)	SOBP (D596E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321383	NM_018013.4(SOBP):c.1840G>A (p.Glu614Lys)	SOBP (E614K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514803	NM_018013.4(SOBP):c.1894G>A (p.Gly632Ser)	SOBP (G632S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478002	NM_018013.4(SOBP):c.1895G>C (p.Gly632Ala)	SOBP (G632A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401616	NM_018013.4(SOBP):c.1917G>C (p.Gln639His)	SOBP (Q639H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214872	NM_018013.4(SOBP):c.1960A>T (p.Ile654Phe)	SOBP (I654F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167382	NM_018013.4(SOBP):c.2000T>G (p.Val667Gly)	SOBP (V667G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338918	NM_018013.4(SOBP):c.2005C>T (p.His669Tyr)	SOBP (H669Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321379	NM_018013.4(SOBP):c.2020G>A (p.Ala674Thr)	SOBP (A674T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534613	NM_018013.4(SOBP):c.2025C>A (p.His675Gln)	SOBP (H675Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321382	NM_018013.4(SOBP):c.2027T>G (p.Val676Gly)	SOBP (V676G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167383	NM_018013.4(SOBP):c.2044C>T (p.Pro682Ser)	SOBP (P682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292495	NM_018013.4(SOBP):c.2051C>T (p.Ala684Val)	SOBP (A684V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476804	NM_018013.4(SOBP):c.2057A>G (p.Glu686Gly)	SOBP (E686G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167384	NM_018013.4(SOBP):c.2086G>A (p.Gly696Ser)	SOBP (G696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397821	NM_018013.4(SOBP):c.2144A>C (p.Glu715Ala)	SOBP (E715A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490506	NM_018013.4(SOBP):c.2189C>T (p.Ala730Val)	SOBP (A730V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360532	NM_018013.4(SOBP):c.2189C>G (p.Ala730Gly)	SOBP (A730G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167385	NM_018013.4(SOBP):c.2255C>T (p.Ala752Val)	SOBP (A752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355292	NM_018013.4(SOBP):c.2260C>T (p.Pro754Ser)	SOBP (P754S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3321380	NM_018013.4(SOBP):c.2261C>G (p.Pro754Arg)	SOBP (P754R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167386	NM_018013.4(SOBP):c.2267A>G (p.Lys756Arg)	SOBP (K756R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622077	NM_018013.4(SOBP):c.2349C>G (p.Asp783Glu)	SOBP (D783E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246228	NM_018013.4(SOBP):c.2486A>G (p.Gln829Arg)	SOBP (Q829R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 60