9590[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2355564	NM_005100.4(AKAP12):c.11G>A (p.Gly4Glu)	AKAP12 (G4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105121	NM_005100.4(AKAP12):c.44C>G (p.Pro15Arg)	AKAP12 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105192	NM_005100.4(AKAP12):c.85G>A (p.Gly29Ser)	AKAP12 (G29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280433	NM_005100.4(AKAP12):c.86G>C (p.Gly29Ala)	AKAP12 (G29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656997	NM_005100.4(AKAP12):c.99G>A (p.Ser33=)	AKAP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603689	NM_005100.4(AKAP12):c.146C>T (p.Ser49Leu)	AKAP12 (S49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157031	NM_005100.4(AKAP12):c.163-8647_163-5271del	AKAP12	Deletion (intron variant)	Preeclampsia	Gnot provided
Select item 2551079	NM_005100.4(AKAP12):c.226C>T (p.Leu76Phe)	AKAP12 (L76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105001	NM_005100.4(AKAP12):c.257G>A (p.Gly86Glu)	AKAP12 (G86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105007	NM_005100.4(AKAP12):c.268G>C (p.Gly90Arg)	AKAP12 (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105042	NM_005100.4(AKAP12):c.314C>T (p.Thr105Ile)	AKAP12 (T105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476349	NM_005100.4(AKAP12):c.328A>G (p.Arg110Gly)	AKAP12 (R12G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105064	NM_005100.4(AKAP12):c.344T>A (p.Val115Glu)	AKAP12 (V10E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540776	NM_005100.4(AKAP12):c.361G>A (p.Asp121Asn)	AKAP12 (D16N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292786	NM_005100.4(AKAP12):c.386C>T (p.Ala129Val)	AKAP12 (A129V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280485	NM_005100.4(AKAP12):c.396C>T (p.His132=)	AKAP12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2596713	NM_005100.4(AKAP12):c.439G>A (p.Glu147Lys)	AKAP12 (E147K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352134	NM_005100.4(AKAP12):c.494C>A (p.Ser165Tyr)	AKAP12 (S67Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476812	NM_005100.4(AKAP12):c.499G>C (p.Ala167Pro)	AKAP12 (A62P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776173	NM_005100.4(AKAP12):c.509T>C (p.Ile170Thr)	AKAP12 (I170T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715955	NM_005100.4(AKAP12):c.531G>A (p.Lys177=)	AKAP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3280453	NM_005100.4(AKAP12):c.560A>G (p.Lys187Arg)	AKAP12 (K82R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778268	NM_005100.4(AKAP12):c.591G>A (p.Gln197=)	AKAP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2464126	NM_005100.4(AKAP12):c.748G>A (p.Ala250Thr)	AKAP12 (A145T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411434	NM_005100.4(AKAP12):c.755T>C (p.Ile252Thr)	AKAP12 (I252T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768115	NM_005100.4(AKAP12):c.761C>T (p.Pro254Leu)	AKAP12 (P149L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3105190	NM_005100.4(AKAP12):c.799G>A (p.Glu267Lys)	AKAP12 (E169K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721150	NM_005100.4(AKAP12):c.812A>G (p.Glu271Gly)	AKAP12 (E166G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3280443	NM_005100.4(AKAP12):c.888C>A (p.Phe296Leu)	AKAP12 (F296L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280464	NM_005100.4(AKAP12):c.916G>A (p.Gly306Ser)	AKAP12 (G208S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240972	NM_005100.4(AKAP12):c.923G>A (p.Arg308His)	AKAP12 (R210H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205169	NM_005100.4(AKAP12):c.949A>G (p.Lys317Glu)	AKAP12 (K317E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569605	NM_005100.4(AKAP12):c.967G>A (p.Ala323Thr)	AKAP12 (A323T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104897	NM_005100.4(AKAP12):c.1094C>T (p.Ala365Val)	AKAP12 (A267V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554694	NM_005100.4(AKAP12):c.1105C>T (p.Arg369Trp)	AKAP12 (R369W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771408	NM_005100.4(AKAP12):c.1127A>C (p.Lys376Thr)	AKAP12 (K278T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719322	NM_005100.4(AKAP12):c.1130T>C (p.Val377Ala)	AKAP12 (V279A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2224673	NM_005100.4(AKAP12):c.1184A>C (p.Lys395Thr)	AKAP12 (K395T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622703	NM_005100.4(AKAP12):c.1222A>G (p.Ile408Val)	AKAP12 (I303V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521420	NM_005100.4(AKAP12):c.1223T>C (p.Ile408Thr)	AKAP12 (I310T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275858	NM_005100.4(AKAP12):c.1228G>C (p.Val410Leu)	AKAP12 (V305L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104919	NM_005100.4(AKAP12):c.1253A>G (p.Glu418Gly)	AKAP12 (E313G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104925	NM_005100.4(AKAP12):c.1285G>A (p.Glu429Lys)	AKAP12 (E331K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617536	NM_005100.4(AKAP12):c.1363C>G (p.Gln455Glu)	AKAP12 (Q350E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300195	NM_005100.4(AKAP12):c.1375C>T (p.Pro459Ser)	AKAP12 (P459S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459393	NM_005100.4(AKAP12):c.1417G>A (p.Gly473Arg)	AKAP12 (G375R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357819	NM_005100.4(AKAP12):c.1444C>G (p.Leu482Val)	AKAP12 (L377V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282796	NM_005100.4(AKAP12):c.1498G>T (p.Val500Leu)	AKAP12 (V402L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104943	NM_005100.4(AKAP12):c.1642A>T (p.Thr548Ser)	AKAP12 (T450S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104946	NM_005100.4(AKAP12):c.1687G>A (p.Gly563Ser)	AKAP12 (G563S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609376	NM_005100.4(AKAP12):c.1708C>G (p.Pro570Ala)	AKAP12 (P465A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608643	NM_005100.4(AKAP12):c.1720G>A (p.Glu574Lys)	AKAP12 (E476K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283269	NM_005100.4(AKAP12):c.1723G>A (p.Glu575Lys)	AKAP12 (E575K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550848	NM_005100.4(AKAP12):c.1735C>G (p.Leu579Val)	AKAP12 (L481V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495203	NM_005100.4(AKAP12):c.1744G>A (p.Gly582Ser)	AKAP12 (G582S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778269	NM_005100.4(AKAP12):c.1839C>A (p.Phe613Leu)	AKAP12 (F515L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3280412	NM_005100.4(AKAP12):c.1853C>T (p.Thr618Met)	AKAP12 (T513M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280506	NM_005100.4(AKAP12):c.1865G>A (p.Arg622His)	AKAP12 (R517H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600937	NM_005100.4(AKAP12):c.1895A>G (p.Glu632Gly)	AKAP12 (E527G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104964	NM_005100.4(AKAP12):c.1934C>G (p.Ser645Cys)	AKAP12 (S540C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539654	NM_005100.4(AKAP12):c.1989G>C (p.Glu663Asp)	AKAP12 (E565D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239506	NM_005100.4(AKAP12):c.2011C>T (p.Arg671Cys)	AKAP12 (R566C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543913	NM_005100.4(AKAP12):c.2032T>C (p.Ser678Pro)	AKAP12 (S573P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280249	NM_005100.4(AKAP12):c.2108G>T (p.Gly703Val)	AKAP12 (G605V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104974	NM_005100.4(AKAP12):c.2168C>T (p.Thr723Met)	AKAP12 (T618M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104978	NM_005100.4(AKAP12):c.2231C>T (p.Pro744Leu)	AKAP12 (P646L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104984	NM_005100.4(AKAP12):c.2309A>T (p.Lys770Ile)	AKAP12 (K672I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360512	NM_005100.4(AKAP12):c.2345A>C (p.Asp782Ala)	AKAP12 (D782A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715764	NM_005100.4(AKAP12):c.2394C>T (p.Pro798=)	AKAP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622006	NM_005100.4(AKAP12):c.2396G>A (p.Gly799Asp)	AKAP12 (G701D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283528	NM_005100.4(AKAP12):c.2423A>G (p.Lys808Arg)	AKAP12 (K808R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521552	NM_005100.4(AKAP12):c.2504G>A (p.Gly835Glu)	AKAP12 (G730E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318617	NM_005100.4(AKAP12):c.2536G>A (p.Val846Met)	AKAP12 (V748M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105003	NM_005100.4(AKAP12):c.2617G>A (p.Glu873Lys)	AKAP12 (E768K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461991	NM_005100.4(AKAP12):c.2690C>T (p.Ala897Val)	AKAP12 (A897V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105016	NM_005100.4(AKAP12):c.2692G>A (p.Asp898Asn)	AKAP12 (D800N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105018	NM_005100.4(AKAP12):c.2699C>T (p.Thr900Met)	AKAP12 (T802M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467588	NM_005100.4(AKAP12):c.2815A>G (p.Arg939Gly)	AKAP12 (R834G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568946	NM_005100.4(AKAP12):c.2881C>T (p.Arg961Trp)	AKAP12 (R856W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105023	NM_005100.4(AKAP12):c.2905G>A (p.Ala969Thr)	AKAP12 (A864T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105025	NM_005100.4(AKAP12):c.2915C>A (p.Thr972Asn)	AKAP12 (T972N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553562	NM_005100.4(AKAP12):c.2959G>A (p.Ala987Thr)	AKAP12 (A882T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233625	NM_005100.4(AKAP12):c.2974G>A (p.Glu992Lys)	AKAP12 (E887K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218847	NM_005100.4(AKAP12):c.2998A>C (p.Thr1000Pro)	AKAP12 (T1000P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597693	NM_005100.4(AKAP12):c.3011C>T (p.Ser1004Leu)	AKAP12 (S899L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774869	NM_005100.4(AKAP12):c.3047C>T (p.Thr1016Ile)	AKAP12 (T918I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2237099	NM_005100.4(AKAP12):c.3170C>G (p.Pro1057Arg)	AKAP12 (P959R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290687	NM_005100.4(AKAP12):c.3242C>A (p.Ala1081Asp)	AKAP12 (A1081D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778270	NM_005100.4(AKAP12):c.3246A>G (p.Glu1082=)	AKAP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377214	NM_005100.4(AKAP12):c.3269C>T (p.Thr1090Met)	AKAP12 (T992M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488929	NM_005100.4(AKAP12):c.3277G>A (p.Val1093Met)	AKAP12 (V995M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455251	NM_005100.4(AKAP12):c.3388A>G (p.Ile1130Val)	AKAP12 (I1025V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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