AKAP8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 60272	GRCh38/hg38 19p13.12(chr19:15227306-15496644)x3	AKAP8, AKAP8L +27 more	Copy number gain	See cases	GUncertain significance
Select item 742225	NM_005858.4(AKAP8):c.2061C>T (p.Asp687=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209428	NM_005858.4(AKAP8):c.2020G>A (p.Ala674Thr)	AKAP8 (A674T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213899	NM_005858.4(AKAP8):c.1997G>A (p.Arg666Lys)	AKAP8 (R666K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281126	NM_005858.4(AKAP8):c.1960G>A (p.Glu654Lys)	AKAP8 (E654K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593641	NM_005858.4(AKAP8):c.1915G>A (p.Val639Ile)	AKAP8 (V639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106478	NM_005858.4(AKAP8):c.1906G>A (p.Glu636Lys)	AKAP8 (E636K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612733	NM_005858.4(AKAP8):c.1898C>T (p.Thr633Met)	AKAP8 (T633M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281158	NM_005858.4(AKAP8):c.1846G>A (p.Gly616Ser)	AKAP8 (G616S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 718804	NM_005858.4(AKAP8):c.1845C>T (p.Ala615=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399636	NM_005858.4(AKAP8):c.1829C>T (p.Thr610Met)	AKAP8 (T610M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281168	NM_005858.4(AKAP8):c.1825C>T (p.Pro609Ser)	AKAP8 (P609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106469	NM_005858.4(AKAP8):c.1811C>A (p.Ala604Asp)	AKAP8 (A604D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304888	NM_005858.4(AKAP8):c.1801G>A (p.Gly601Arg)	AKAP8 (G601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401912	NM_005858.4(AKAP8):c.1765G>A (p.Val589Ile)	AKAP8 (V589I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314193	NM_005858.4(AKAP8):c.1751C>A (p.Ala584Glu)	AKAP8 (A584E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232935	NM_005858.4(AKAP8):c.1705A>C (p.Thr569Pro)	AKAP8 (T569P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340651	NM_005858.4(AKAP8):c.1579T>G (p.Leu527Val)	AKAP8 (L527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106453	NM_005858.4(AKAP8):c.1537G>C (p.Glu513Gln)	AKAP8 (E513Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376898	NM_005858.4(AKAP8):c.1504G>A (p.Val502Met)	AKAP8 (V502M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649492	NM_005858.4(AKAP8):c.1503C>T (p.Ser501=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281189	NM_005858.4(AKAP8):c.1472A>G (p.Gln491Arg)	AKAP8 (Q491R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734523	NM_005858.4(AKAP8):c.1428C>A (p.Ile476=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255196	NM_005858.4(AKAP8):c.1397G>A (p.Gly466Glu)	AKAP8 (G466E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474394	NM_005858.4(AKAP8):c.1382C>T (p.Pro461Leu)	AKAP8 (P461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715323	NM_005858.4(AKAP8):c.1375C>A (p.Pro459Thr)	AKAP8 (P459T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3106443	NM_005858.4(AKAP8):c.1340G>A (p.Arg447Gln)	AKAP8 (R447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283093	NM_005858.4(AKAP8):c.1266C>G (p.Ser422Arg)	AKAP8 (S422R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593700	NM_005858.4(AKAP8):c.1256G>A (p.Arg419Gln)	AKAP8 (R419Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281179	NM_005858.4(AKAP8):c.1255C>T (p.Arg419Trp)	AKAP8 (R419W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371011	NM_005858.4(AKAP8):c.1207G>A (p.Glu403Lys)	AKAP8 (E403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261810	NM_005858.4(AKAP8):c.1178C>A (p.Ser393Tyr)	AKAP8 (S393Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744465	NM_005858.4(AKAP8):c.1160+8G>A	AKAP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725571	NM_005858.4(AKAP8):c.1160+7C>T	AKAP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2314046	NM_005858.4(AKAP8):c.1134C>G (p.Asp378Glu)	AKAP8 (D378E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388006	NM_005858.4(AKAP8):c.1112G>C (p.Arg371Thr)	AKAP8 (R371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774954	NM_005858.4(AKAP8):c.1104G>A (p.Lys368=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708269	NM_005858.4(AKAP8):c.1072+7A>C	AKAP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2325944	NM_005858.4(AKAP8):c.1064G>A (p.Arg355Lys)	AKAP8 (R355K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508506	NM_005858.4(AKAP8):c.1057T>A (p.Ser353Thr)	AKAP8 (S353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719995	NM_005858.4(AKAP8):c.1050C>T (p.Leu350=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782638	NM_005858.4(AKAP8):c.1048C>T (p.Leu350Phe)	AKAP8 (L350F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731979	NM_005858.4(AKAP8):c.963T>A (p.Val321=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3106596	NM_005858.4(AKAP8):c.962T>C (p.Val321Ala)	AKAP8 (V321A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 730160	NM_005858.4(AKAP8):c.959G>A (p.Arg320Gln)	AKAP8 (R320Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3106591	NM_005858.4(AKAP8):c.958C>T (p.Arg320Trp)	AKAP8 (R320W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792323	NM_005858.4(AKAP8):c.948C>T (p.Thr316=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403356	NM_005858.4(AKAP8):c.914G>A (p.Arg305Gln)	AKAP8 (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713389	NM_005858.4(AKAP8):c.894A>G (p.Pro298=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509187	NM_005858.4(AKAP8):c.893C>A (p.Pro298Gln)	AKAP8 (P298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774733	NM_005858.4(AKAP8):c.883C>T (p.Arg295Cys)	AKAP8 (R295C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2225586	NM_005858.4(AKAP8):c.860G>A (p.Arg287Gln)	AKAP8 (R287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342511	NM_005858.4(AKAP8):c.848G>A (p.Arg283Gln)	AKAP8 (R283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379000	NM_005858.4(AKAP8):c.837G>C (p.Gln279His)	AKAP8 (Q279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106573	NM_005858.4(AKAP8):c.830G>A (p.Arg277His)	AKAP8 (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219390	NM_005858.4(AKAP8):c.820G>A (p.Gly274Arg)	AKAP8 (G274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106567	NM_005858.4(AKAP8):c.791C>T (p.Ala264Val)	AKAP8 (A264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207849	NM_005858.4(AKAP8):c.787G>C (p.Gly263Arg)	AKAP8 (G263R)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2560652	NM_005858.4(AKAP8):c.772G>C (p.Val258Leu)	AKAP8 (V258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788813	NM_005858.4(AKAP8):c.772G>A (p.Val258Met)	AKAP8 (V258M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2487701	NM_005858.4(AKAP8):c.769G>A (p.Gly257Ser)	AKAP8 (G257S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281892	NM_005858.4(AKAP8):c.740T>G (p.Leu247Arg)	AKAP8 (L247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209224	NM_005858.4(AKAP8):c.724C>T (p.Arg242Trp)	AKAP8 (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281134	NM_005858.4(AKAP8):c.721A>G (p.Ser241Gly)	AKAP8 (S241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718160	NM_005858.4(AKAP8):c.719C>A (p.Pro240His)	AKAP8 (P240H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747942	NM_005858.4(AKAP8):c.717C>A (p.Ser239=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788660	NM_005858.4(AKAP8):c.711G>A (p.Gly237=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733401	NM_005858.4(AKAP8):c.705G>C (p.Leu235=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 765154	NM_005858.4(AKAP8):c.687C>T (p.Tyr229=)	AKAP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789347	NM_005858.4(AKAP8):c.676G>A (p.Glu226Lys)	AKAP8 (E226K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2536398	NM_005858.4(AKAP8):c.665C>G (p.Thr222Arg)	AKAP8 (T222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286166	NM_005858.4(AKAP8):c.653A>T (p.Glu218Val)	AKAP8 (E218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708624	NM_005858.4(AKAP8):c.617G>A (p.Arg206His)	AKAP8 (R206H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2318913	NM_005858.4(AKAP8):c.613A>G (p.Met205Val)	AKAP8 (M205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374637	NM_005858.4(AKAP8):c.572G>A (p.Gly191Asp)	AKAP8 (G191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519881	NM_005858.4(AKAP8):c.571G>A (p.Gly191Ser)	AKAP8 (G191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231540	NM_005858.4(AKAP8):c.571G>C (p.Gly191Arg)	AKAP8 (G191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106535	NM_005858.4(AKAP8):c.551A>G (p.Asp184Gly)	AKAP8 (D184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206267	NM_005858.4(AKAP8):c.551A>T (p.Asp184Val)	AKAP8 (D184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552254	NM_005858.4(AKAP8):c.533G>A (p.Arg178Gln)	AKAP8 (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370755	NM_005858.4(AKAP8):c.532C>T (p.Arg178Trp)	AKAP8 (R178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710482	NM_005858.4(AKAP8):c.500G>A (p.Gly167Glu)	AKAP8 (G167E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2608644	NM_005858.4(AKAP8):c.393C>G (p.Phe131Leu)	AKAP8 (F131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106516	NM_005858.4(AKAP8):c.388C>G (p.Pro130Ala)	AKAP8 (P130A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460889	NM_005858.4(AKAP8):c.340G>A (p.Gly114Ser)	AKAP8 (G114S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106509	NM_005858.4(AKAP8):c.337G>A (p.Gly113Ser)	AKAP8 (G113S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281141	NM_005858.4(AKAP8):c.331G>A (p.Gly111Arg)	AKAP8 (G111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275965	NM_005858.4(AKAP8):c.244C>T (p.Pro82Ser)	AKAP8 (P82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370389	NM_005858.4(AKAP8):c.241G>A (p.Gly81Ser)	AKAP8 (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106499	NM_005858.4(AKAP8):c.221C>T (p.Ala74Val)	AKAP8 (A74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233899	NM_005858.4(AKAP8):c.215C>A (p.Ala72Asp)	AKAP8 (A72D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591604	NM_005858.4(AKAP8):c.206C>G (p.Ala69Gly)	AKAP8 (A69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538950	NM_005858.4(AKAP8):c.181G>A (p.Ala61Thr)	AKAP8 (A61T)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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