AKAP6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 2272464	NM_004274.5(AKAP6):c.28C>T (p.Pro10Ser)	AKAP6 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106363	NM_004274.5(AKAP6):c.67G>A (p.Ala23Thr)	AKAP6 (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106366	NM_004274.5(AKAP6):c.68C>A (p.Ala23Asp)	AKAP6 (A23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300231	NM_004274.5(AKAP6):c.238A>T (p.Thr80Ser)	AKAP6 (T80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325203	NM_004274.5(AKAP6):c.262A>G (p.Thr88Ala)	AKAP6 (T88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512860	NM_004274.5(AKAP6):c.436G>A (p.Ala146Thr)	AKAP6 (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363323	NM_004274.5(AKAP6):c.514G>A (p.Ala172Thr)	AKAP6 (A172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471829	NM_004274.5(AKAP6):c.536A>C (p.Gln179Pro)	AKAP6 (Q179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 425041	NM_004274.5(AKAP6):c.725A>G (p.Asp242Gly)	AKAP6 (D242G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3106370	NM_004274.5(AKAP6):c.841T>C (p.Ser281Pro)	AKAP6 (S281P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343104	NM_004274.5(AKAP6):c.928G>A (p.Asp310Asn)	AKAP6 (D310N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3106375	NM_004274.5(AKAP6):c.956C>A (p.Pro319Gln)	AKAP6 (P319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271177	NM_004274.5(AKAP6):c.989G>C (p.Gly330Ala)	AKAP6 (G330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106097	NM_004274.5(AKAP6):c.1031T>C (p.Val344Ala)	AKAP6 (V344A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106098	NM_004274.5(AKAP6):c.1060C>G (p.His354Asp)	AKAP6 (H354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291734	NM_004274.5(AKAP6):c.1154C>T (p.Thr385Met)	AKAP6 (T385M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 835075	NM_004274.5(AKAP6):c.1224T>G (p.Asn408Lys)	AKAP6 (N408K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2300088	NM_004274.5(AKAP6):c.1235G>A (p.Arg412Lys)	AKAP6 (R412K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294926	NM_004274.5(AKAP6):c.1318G>A (p.Val440Ile)	AKAP6 (V440I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2076975	NM_004274.5(AKAP6):c.1354G>A (p.Ala452Thr)	AKAP6 (A452T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618343	NM_004274.5(AKAP6):c.1373G>A (p.Cys458Tyr)	AKAP6 (C458Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275617	NM_004274.5(AKAP6):c.1406A>G (p.Asn469Ser)	AKAP6 (N469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262048	NM_004274.5(AKAP6):c.1492C>T (p.Pro498Ser)	AKAP6 (P498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235751	NM_004274.5(AKAP6):c.1514T>C (p.Val505Ala)	AKAP6 (V505A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536132	NM_004274.5(AKAP6):c.1526G>C (p.Arg509Pro)	AKAP6 (R509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385075	NM_004274.5(AKAP6):c.1588C>T (p.Pro530Ser)	AKAP6 (P530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320418	NM_004274.5(AKAP6):c.1637C>T (p.Thr546Ile)	AKAP6 (T546I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776830	NM_004274.5(AKAP6):c.1672A>G (p.Asn558Asp)	AKAP6 (N558D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2514375	NM_004274.5(AKAP6):c.1781C>T (p.Pro594Leu)	AKAP6 (P594L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330874	NM_004274.5(AKAP6):c.1819C>A (p.Gln607Lys)	AKAP6 (Q607K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345544	NM_004274.5(AKAP6):c.1829C>A (p.Ser610Tyr)	AKAP6 (S610Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283266	NM_004274.5(AKAP6):c.2085G>C (p.Arg695Ser)	AKAP6 (R695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106139	NM_004274.5(AKAP6):c.2112A>G (p.Ile704Met)	AKAP6 (I704M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106145	NM_004274.5(AKAP6):c.2158A>G (p.Ile720Val)	AKAP6 (I720V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544662	NM_004274.5(AKAP6):c.2185C>T (p.Pro729Ser)	AKAP6 (P729S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410225	NM_004274.5(AKAP6):c.2293A>G (p.Met765Val)	AKAP6 (M765V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266423	NM_004274.5(AKAP6):c.2300A>T (p.Asp767Val)	AKAP6 (D767V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689633	NM_004274.5(AKAP6):c.2305C>T (p.Gln769Ter)	AKAP6 (Q769*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2265284	NM_004274.5(AKAP6):c.2327C>T (p.Ala776Val)	AKAP6 (A776V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483414	NM_004274.5(AKAP6):c.2331A>G (p.Ile777Met)	AKAP6 (I777M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475173	NM_004274.5(AKAP6):c.2347G>T (p.Gly783Trp)	AKAP6 (G783W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770781	NM_004274.5(AKAP6):c.2409= (p.Glu803=)	AKAP6	Variation (no sequence alteration)	not provided	GBenign
Select item 3106166	NM_004274.5(AKAP6):c.2420C>T (p.Pro807Leu)	AKAP6 (P807L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235752	NM_004274.5(AKAP6):c.2434A>T (p.Met812Leu)	AKAP6 (M812L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729246	NM_004274.5(AKAP6):c.2514T>C (p.Ala838=)	AKAP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287048	NM_004274.5(AKAP6):c.2584C>G (p.Arg862Gly)	AKAP6 (R862G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106170	NM_004274.5(AKAP6):c.2585G>A (p.Arg862Gln)	AKAP6 (R862Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106171	NM_004274.5(AKAP6):c.2606A>T (p.Lys869Met)	AKAP6 (K869M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106176	NM_004274.5(AKAP6):c.2647C>T (p.Leu883Phe)	AKAP6 (L883F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778739	NM_004274.5(AKAP6):c.2674G>A (p.Glu892Lys)	AKAP6 (E892K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3106178	NM_004274.5(AKAP6):c.2698G>T (p.Val900Leu)	AKAP6 (V900L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106182	NM_004274.5(AKAP6):c.2709G>C (p.Glu903Asp)	AKAP6 (E903D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106185	NM_004274.5(AKAP6):c.2710G>C (p.Glu904Gln)	AKAP6 (E904Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399758	NM_004274.5(AKAP6):c.2758G>A (p.Ala920Thr)	AKAP6 (A920T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396565	NM_004274.5(AKAP6):c.2761C>G (p.Gln921Glu)	AKAP6 (Q921E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218628	NM_004274.5(AKAP6):c.2812A>G (p.Thr938Ala)	AKAP6 (T938A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106194	NM_004274.5(AKAP6):c.2849T>C (p.Met950Thr)	AKAP6 (M950T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368855	NM_004274.5(AKAP6):c.3065C>T (p.Ala1022Val)	AKAP6 (A1022V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621450	NM_004274.5(AKAP6):c.3104T>G (p.Leu1035Arg)	AKAP6 (L1035R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399028	NM_004274.5(AKAP6):c.3200G>A (p.Ser1067Asn)	AKAP6 (S1067N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248845	NM_004274.5(AKAP6):c.3226A>G (p.Ser1076Gly)	AKAP6 (S1076G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522317	NM_004274.5(AKAP6):c.3275G>T (p.Gly1092Val)	AKAP6 (G1092V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491721	NM_004274.5(AKAP6):c.3299T>G (p.Phe1100Cys)	AKAP6 (F1100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292521	NM_004274.5(AKAP6):c.3452G>A (p.Arg1151Gln)	AKAP6 (R1151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106215	NM_004274.5(AKAP6):c.3544G>A (p.Val1182Ile)	AKAP6 (V1182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310541	NM_004274.5(AKAP6):c.3602T>C (p.Val1201Ala)	AKAP6 (V1201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528711	NM_004274.5(AKAP6):c.3764G>A (p.Ser1255Asn)	AKAP6 (S1255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106218	NM_004274.5(AKAP6):c.3800A>G (p.Asn1267Ser)	AKAP6 (N1267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106219	NM_004274.5(AKAP6):c.3968G>A (p.Ser1323Asn)	AKAP6 (S1323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479415	NM_004274.5(AKAP6):c.4004C>A (p.Ser1335Tyr)	AKAP6 (S1335Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296484	NM_004274.5(AKAP6):c.4114A>G (p.Thr1372Ala)	AKAP6 (T1372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251821	NM_004274.5(AKAP6):c.4121C>T (p.Thr1374Ile)	AKAP6 (T1374I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106222	NM_004274.5(AKAP6):c.4157T>C (p.Val1386Ala)	AKAP6 (V1386A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106224	NM_004274.5(AKAP6):c.4212T>A (p.Asp1404Glu)	AKAP6 (D1404E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233969	NM_004274.5(AKAP6):c.4225T>A (p.Leu1409Ile)	AKAP6 (L1409I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106230	NM_004274.5(AKAP6):c.4292C>T (p.Ser1431Leu)	AKAP6 (S1431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249107	NM_004274.5(AKAP6):c.4300G>A (p.Gly1434Ser)	AKAP6 (G1434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284253	NM_004274.5(AKAP6):c.4318G>A (p.Val1440Ile)	AKAP6 (V1440I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527477	NM_004274.5(AKAP6):c.4444A>G (p.Met1482Val)	AKAP6 (M1482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595528	NM_004274.5(AKAP6):c.4489C>T (p.Pro1497Ser)	AKAP6 (P1497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333533	NM_004274.5(AKAP6):c.4496T>G (p.Leu1499Arg)	AKAP6 (L1499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463248	NM_004274.5(AKAP6):c.4511T>C (p.Phe1504Ser)	AKAP6 (F1504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588821	NM_004274.5(AKAP6):c.4514A>T (p.Asp1505Val)	AKAP6 (D1505V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776831	NM_004274.5(AKAP6):c.4546A>G (p.Thr1516Ala)	AKAP6 (T1516A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2274609	NM_004274.5(AKAP6):c.4612C>T (p.Arg1538Cys)	AKAP6 (R1538C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248798	NM_004274.5(AKAP6):c.4612C>A (p.Arg1538Ser)	AKAP6 (R1538S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606320	NM_004274.5(AKAP6):c.4644G>T (p.Lys1548Asn)	AKAP6 (K1548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324635	NM_004274.5(AKAP6):c.4648T>C (p.Phe1550Leu)	AKAP6 (F1550L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325586	NM_004274.5(AKAP6):c.4659G>A (p.Met1553Ile)	AKAP6 (M1553I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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