SOGA3-KIAA0408[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
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 3288082	NM_014702.5(KIAA0408):c.2030G>A (p.Arg677Gln)	KIAA0408, SOGA3-KIAA0408 (R677Q)	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 3288086	NM_014702.5(KIAA0408):c.1864G>A (p.Gly622Arg)	KIAA0408, SOGA3-KIAA0408 (G622R)	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 3288084	NM_014702.5(KIAA0408):c.1713G>C (p.Glu571Asp)	KIAA0408, SOGA3-KIAA0408 (E571D)	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 3288087	NM_014702.5(KIAA0408):c.1592G>T (p.Arg531Leu)	KIAA0408, SOGA3-KIAA0408 (R531L)	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 3288078	NM_014702.5(KIAA0408):c.908G>T (p.Gly303Val)	KIAA0408, SOGA3-KIAA0408 (G303V)	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)	KIAA0408, SOGA3-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 3288085	NM_014702.5(KIAA0408):c.557G>A (p.Arg186Gln)	KIAA0408, SOGA3-KIAA0408 (R186Q)	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 3288081	NM_014702.5(KIAA0408):c.497C>T (p.Thr166Ile)	KIAA0408, SOGA3-KIAA0408 (T166I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3288083	NM_014702.5(KIAA0408):c.446A>G (p.Asp149Gly)	KIAA0408, SOGA3-KIAA0408 (D149G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3288080	NM_014702.5(KIAA0408):c.388G>T (p.Val130Leu)	KIAA0408, SOGA3-KIAA0408 (V130L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2656900	NM_014702.5(KIAA0408):c.306A>G (p.Arg102=)	KIAA0408, SOGA3-KIAA0408	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2656901	NM_014702.5(KIAA0408):c.233T>C (p.Ile78Thr)	KIAA0408, SOGA3-KIAA0408 (I78T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 3235436	NM_001400265.1(MTCL3):c.2749A>G (p.Ile917Val)	MTCL3, SOGA3-KIAA0408 (I917V)	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)	not specified	GUncertain significance
Select item 3296556	NM_001400265.1(MTCL3):c.2704G>A (p.Gly902Ser)	MTCL3, SOGA3-KIAA0408 (G902S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3296557	NM_001400265.1(MTCL3):c.2672G>A (p.Arg891His)	MTCL3, SOGA3-KIAA0408 (R891H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3235433	NM_001400265.1(MTCL3):c.2367C>G (p.Ile789Met)	MTCL3, SOGA3-KIAA0408 (I789M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1684509	NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg)	MTCL3, SOGA3-KIAA0408 (G778R)	Single nucleotide variant (non-coding transcript variant +1 more)	Global developmental delay +6 more	GUncertain significance
Select item 689629	NM_001012279.3(SOGA3):c.2289C>G (p.Asp763Glu)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided +1 more	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)	not specified	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)	not specified	GUncertain significance
Select item 3235431	NM_001400265.1(MTCL3):c.2053G>T (p.Gly685Cys)	MTCL3, SOGA3-KIAA0408 (G685C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1329644	NM_001012279.3(SOGA3):c.1992C>T (p.Ala664=)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GBenign
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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3235428	NM_001400265.1(MTCL3):c.1033C>G (p.Gln345Glu)	MTCL3, SOGA3-KIAA0408 (Q345E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3235427	NM_001400265.1(MTCL3):c.1024C>G (p.His342Asp)	MTCL3, SOGA3-KIAA0408 (H342D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3235442	NM_001400265.1(MTCL3):c.949G>A (p.Gly317Ser)	MTCL3, SOGA3-KIAA0408 (G317S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3296562	NM_001400265.1(MTCL3):c.739G>A (p.Gly247Arg)	MTCL3, SOGA3-KIAA0408 (G247R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3296563	NM_001400265.1(MTCL3):c.646C>T (p.Pro216Ser)	MTCL3, SOGA3-KIAA0408 (P216S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3235441	NM_001400265.1(MTCL3):c.628G>A (p.Gly210Ser)	MTCL3, SOGA3-KIAA0408 (G210S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3296558	NM_001400265.1(MTCL3):c.580A>G (p.Arg194Gly)	LOC129997124, MTCL3 +1 more (R194G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3235439	NM_001400265.1(MTCL3):c.553G>C (p.Gly185Arg)	LOC129997124, MTCL3 +1 more (G185R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3296560	NM_001400265.1(MTCL3):c.338C>T (p.Ala113Val)	MTCL3, SOGA3-KIAA0408 (A113V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3235438	NM_001400265.1(MTCL3):c.328C>T (p.Pro110Ser)	MTCL3, SOGA3-KIAA0408 (P110S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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