"Ambry Genetics"[submitter] AND "AKAP6"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3280939	NM_004274.5(AKAP6):c.224C>A (p.Thr75Asn)	AKAP6 (T75N)	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 3280961	NM_004274.5(AKAP6):c.254G>A (p.Arg85Gln)	AKAP6 (R85Q)	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 3106370	NM_004274.5(AKAP6):c.841T>C (p.Ser281Pro)	AKAP6 (S281P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280852	NM_004274.5(AKAP6):c.857G>A (p.Gly286Asp)	AKAP6 (G286D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3280993	NM_004274.5(AKAP6):c.964A>G (p.Thr322Ala)	AKAP6 (T322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281032	NM_004274.5(AKAP6):c.986C>T (p.Ser329Leu)	AKAP6 (S329L)	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 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 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 3280890	NM_004274.5(AKAP6):c.1469A>G (p.Lys490Arg)	AKAP6 (K490R)	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 3280983	NM_004274.5(AKAP6):c.1630C>T (p.Pro544Ser)	AKAP6 (P544S)	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 3281064	NM_004274.5(AKAP6):c.1741A>G (p.Ser581Gly)	AKAP6 (S581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 3280919	NM_004274.5(AKAP6):c.3058G>A (p.Val1020Ile)	AKAP6 (V1020I)	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 3281014	NM_004274.5(AKAP6):c.3076G>A (p.Gly1026Ser)	AKAP6 (G1026S)	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 3281043	NM_004274.5(AKAP6):c.3332A>G (p.Glu1111Gly)	AKAP6 (E1111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280856	NM_004274.5(AKAP6):c.3398G>A (p.Arg1133Gln)	AKAP6 (R1133Q)	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 3280928	NM_004274.5(AKAP6):c.3599A>G (p.Asn1200Ser)	AKAP6 (N1200S)	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 3280872	NM_004274.5(AKAP6):c.3731C>T (p.Pro1244Leu)	AKAP6 (P1244L)	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 3281054	NM_004274.5(AKAP6):c.4097T>A (p.Ile1366Asn)	AKAP6 (I1366N)	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 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
Select item 2285483	NM_004274.5(AKAP6):c.4753A>G (p.Asn1585Asp)	AKAP6 (N1585D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106251	NM_004274.5(AKAP6):c.4805C>A (p.Ser1602Tyr)	AKAP6 (S1602Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557995	NM_004274.5(AKAP6):c.4817A>G (p.Asn1606Ser)	AKAP6 (N1606S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281007	NM_004274.5(AKAP6):c.4852A>G (p.Ile1618Val)	AKAP6 (I1618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106258	NM_004274.5(AKAP6):c.4876G>A (p.Gly1626Ser)	AKAP6 (G1626S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2