"Ambry Genetics"[submitter] AND "SOGA3-KIAA0408"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2493933	NM_014702.5(KIAA0408):c.2044A>G (p.Asn682Asp)	KIAA0408, SOGA3-KIAA0408 (N682D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405611	NM_014702.5(KIAA0408):c.2036C>T (p.Thr679Ile)	KIAA0408, SOGA3-KIAA0408 (T679I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2595057	NM_014702.5(KIAA0408):c.1978C>T (p.Arg660Cys)	KIAA0408, SOGA3-KIAA0408 (R660C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2400811	NM_014702.5(KIAA0408):c.1955G>A (p.Arg652Gln)	KIAA0408, SOGA3-KIAA0408 (R652Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2354225	NM_014702.5(KIAA0408):c.1937A>G (p.His646Arg)	KIAA0408, SOGA3-KIAA0408 (H646R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2207848	NM_014702.5(KIAA0408):c.1930G>A (p.Ala644Thr)	KIAA0408, SOGA3-KIAA0408 (A644T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2228344	NM_014702.5(KIAA0408):c.1895C>T (p.Pro632Leu)	KIAA0408, SOGA3-KIAA0408 (P632L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622844	NM_014702.5(KIAA0408):c.1885G>C (p.Gly629Arg)	KIAA0408, SOGA3-KIAA0408 (G629R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2370542	NM_014702.5(KIAA0408):c.1805G>A (p.Ser602Asn)	KIAA0408, SOGA3-KIAA0408 (S602N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2537733	NM_014702.5(KIAA0408):c.1688T>C (p.Val563Ala)	KIAA0408, SOGA3-KIAA0408 (V563A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114084	NM_014702.5(KIAA0408):c.1594A>G (p.Ser532Gly)	KIAA0408, SOGA3-KIAA0408 (S532G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2209725	NM_014702.5(KIAA0408):c.1499A>T (p.His500Leu)	KIAA0408, SOGA3-KIAA0408 (H500L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258299	NM_014702.5(KIAA0408):c.1406C>T (p.Ser469Leu)	KIAA0408, SOGA3-KIAA0408 (S469L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490238	NM_014702.5(KIAA0408):c.1311G>T (p.Lys437Asn)	KIAA0408, SOGA3-KIAA0408 (K437N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2411736	NM_014702.5(KIAA0408):c.1251G>C (p.Glu417Asp)	KIAA0408, SOGA3-KIAA0408 (E417D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2245620	NM_014702.5(KIAA0408):c.1244T>G (p.Val415Gly)	KIAA0408, SOGA3-KIAA0408 (V415G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114083	NM_014702.5(KIAA0408):c.1078A>T (p.Met360Leu)	KIAA0408, SOGA3-KIAA0408 (M360L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114082	NM_014702.5(KIAA0408):c.1052C>G (p.Pro351Arg)	KIAA0408, SOGA3-KIAA0408 (P351R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2515862	NM_014702.5(KIAA0408):c.991T>C (p.Ser331Pro)	KIAA0408, SOGA3-KIAA0408 (S331P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114089	NM_014702.5(KIAA0408):c.982G>A (p.Gly328Arg)	KIAA0408, SOGA3-KIAA0408 (G328R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510491	NM_014702.5(KIAA0408):c.979G>A (p.Glu327Lys)	KIAA0408, SOGA3-KIAA0408 (E327K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2552942	NM_014702.5(KIAA0408):c.959T>G (p.Met320Arg)	KIAA0408, SOGA3-KIAA0408 (M320R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2233161	NM_014702.5(KIAA0408):c.905A>G (p.Glu302Gly)	KIAA0408, SOGA3-KIAA0408 (E302G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318562	NM_014702.5(KIAA0408):c.689A>G (p.Glu230Gly)	KIAA0408, SOGA3-KIAA0408 (E230G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347826	NM_014702.5(KIAA0408):c.656A>G (p.Asp219Gly)	SOGA3-KIAA0408, KIAA0408 (D219G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2474196	NM_014702.5(KIAA0408):c.650A>G (p.Asn217Ser)	KIAA0408, SOGA3-KIAA0408 (N217S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3114088	NM_014702.5(KIAA0408):c.598C>T (p.Leu200Phe)	KIAA0408, SOGA3-KIAA0408 (L200F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114087	NM_014702.5(KIAA0408):c.514G>C (p.Ala172Pro)	KIAA0408, SOGA3-KIAA0408 (A172P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2400587	NM_014702.5(KIAA0408):c.269G>A (p.Ser90Asn)	KIAA0408, SOGA3-KIAA0408 (S90N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114086	NM_014702.5(KIAA0408):c.256G>A (p.Asp86Asn)	KIAA0408, SOGA3-KIAA0408 (D86N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3114085	NM_014702.5(KIAA0408):c.247A>G (p.Asn83Asp)	KIAA0408, SOGA3-KIAA0408 (N83D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2281981	NM_014702.5(KIAA0408):c.227A>T (p.Lys76Ile)	KIAA0408, SOGA3-KIAA0408 (K76I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254760	NM_014702.5(KIAA0408):c.194T>C (p.Ile65Thr)	KIAA0408, SOGA3-KIAA0408 (I65T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603279	NM_014702.5(KIAA0408):c.182G>A (p.Ser61Asn)	KIAA0408, SOGA3-KIAA0408 (S61N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2374082	NM_014702.5(KIAA0408):c.142C>T (p.Arg48Trp)	KIAA0408, SOGA3-KIAA0408 (R48W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208791	NM_001400265.1(MTCL3):c.2716C>T (p.Pro906Ser)	MTCL3, SOGA3-KIAA0408 (P906S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568424	NM_001400265.1(MTCL3):c.2686A>G (p.Lys896Glu)	MTCL3, SOGA3-KIAA0408 (K896E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222505	NM_001400265.1(MTCL3):c.2677G>C (p.Glu893Gln)	MTCL3, SOGA3-KIAA0408 (E893Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325564	NM_001400265.1(MTCL3):c.2665A>G (p.Ile889Val)	MTCL3, SOGA3-KIAA0408 (I889V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371303	NM_001400265.1(MTCL3):c.2624A>G (p.Asn875Ser)	MTCL3, SOGA3-KIAA0408 (N875S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367913	NM_001400265.1(MTCL3):c.2223C>A (p.His741Gln)	MTCL3, SOGA3-KIAA0408 (H741Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322289	NM_001400265.1(MTCL3):c.2095G>C (p.Glu699Gln)	MTCL3, SOGA3-KIAA0408 (E699Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323994	NM_001400265.1(MTCL3):c.1898C>T (p.Pro633Leu)	MTCL3, SOGA3-KIAA0408 (P633L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338919	NM_001400265.1(MTCL3):c.1714C>G (p.Pro572Ala)	MTCL3, SOGA3-KIAA0408 (P572A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537937	NM_001400265.1(MTCL3):c.1664A>G (p.His555Arg)	MTCL3, SOGA3-KIAA0408 (H555R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283181	NM_001400265.1(MTCL3):c.1194G>C (p.Glu398Asp)	MTCL3, SOGA3-KIAA0408 (E398D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491694	NM_001400265.1(MTCL3):c.1114G>A (p.Glu372Lys)	MTCL3, SOGA3-KIAA0408 (E372K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550555	NM_001400265.1(MTCL3):c.1093A>T (p.Thr365Ser)	MTCL3, SOGA3-KIAA0408 (T365S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385051	NM_001400265.1(MTCL3):c.1007C>A (p.Pro336His)	MTCL3, SOGA3-KIAA0408 (P336H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480191	NM_001400265.1(MTCL3):c.1000G>A (p.Ala334Thr)	MTCL3, SOGA3-KIAA0408 (A334T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550972	NM_001400265.1(MTCL3):c.938C>T (p.Ala313Val)	MTCL3, SOGA3-KIAA0408 (A313V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340980	NM_001400265.1(MTCL3):c.931A>G (p.Met311Val)	MTCL3, SOGA3-KIAA0408 (M311V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468624	NM_001400265.1(MTCL3):c.847G>A (p.Gly283Ser)	MTCL3, SOGA3-KIAA0408 (G283S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327703	NM_001400265.1(MTCL3):c.809C>T (p.Ala270Val)	MTCL3, SOGA3-KIAA0408 (A270V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324758	NM_001400265.1(MTCL3):c.730G>A (p.Gly244Ser)	MTCL3, SOGA3-KIAA0408 (G244S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491240	NM_001400265.1(MTCL3):c.638G>A (p.Gly213Glu)	MTCL3, SOGA3-KIAA0408 (G213E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226106	NM_001400265.1(MTCL3):c.584G>T (p.Gly195Val)	LOC129997124, MTCL3 +1 more (G195V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226105	NM_001400265.1(MTCL3):c.562C>T (p.Pro188Ser)	LOC129997124, MTCL3 +1 more (P188S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376265	NM_001400265.1(MTCL3):c.523G>A (p.Gly175Arg)	LOC129997124, MTCL3 +1 more (G175R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555201	NM_001400265.1(MTCL3):c.495A>C (p.Glu165Asp)	LOC129997124, MTCL3 +1 more (E165D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412420	NM_001400265.1(MTCL3):c.451G>C (p.Glu151Gln)	LOC129997124, MTCL3 +1 more (E151Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409441	NM_001400265.1(MTCL3):c.432G>T (p.Glu144Asp)	LOC129997124, MTCL3 +1 more (E144D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253333	NM_001400265.1(MTCL3):c.389C>T (p.Ala130Val)	LOC129997124, MTCL3 +1 more (A130V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239648	NM_001400265.1(MTCL3):c.317C>A (p.Thr106Lys)	MTCL3, SOGA3-KIAA0408 (T106K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547894	NM_001400265.1(MTCL3):c.250A>C (p.Lys84Gln)	MTCL3, SOGA3-KIAA0408 (K84Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262734	NM_001400265.1(MTCL3):c.172C>T (p.Arg58Trp)	MTCL3, SOGA3-KIAA0408 (R58W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 66