ClinVar for Gene (Select 9472) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281074	NM_004274.5(AKAP6):c.6238G>A (p.Glu2080Lys)	AKAP6 (E2080K)	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 3281054	NM_004274.5(AKAP6):c.4097T>A (p.Ile1366Asn)	AKAP6 (I1366N)	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 3281032	NM_004274.5(AKAP6):c.986C>T (p.Ser329Leu)	AKAP6 (S329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281022	NM_004274.5(AKAP6):c.6056G>T (p.Cys2019Phe)	AKAP6 (C2019F)	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 3281007	NM_004274.5(AKAP6):c.4852A>G (p.Ile1618Val)	AKAP6 (I1618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280999	NM_004274.5(AKAP6):c.5465G>A (p.Ser1822Asn)	AKAP6 (S1822N)	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 3280983	NM_004274.5(AKAP6):c.1630C>T (p.Pro544Ser)	AKAP6 (P544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280972	NM_004274.5(AKAP6):c.4929G>T (p.Gln1643His)	AKAP6 (Q1643H)	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 3280950	NM_004274.5(AKAP6):c.5864A>C (p.Gln1955Pro)	AKAP6 (Q1955P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3280928	NM_004274.5(AKAP6):c.3599A>G (p.Asn1200Ser)	AKAP6 (N1200S)	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 3280907	NM_004274.5(AKAP6):c.6332C>T (p.Ser2111Leu)	AKAP6 (S2111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280898	NM_004274.5(AKAP6):c.6628A>G (p.Thr2210Ala)	AKAP6 (T2210A)	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 3280882	NM_004274.5(AKAP6):c.5889A>T (p.Lys1963Asn)	AKAP6 (K1963N)	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 3280856	NM_004274.5(AKAP6):c.3398G>A (p.Arg1133Gln)	AKAP6 (R1133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3257199	NM_004274.5(AKAP6):c.2595A>G (p.Ala865=)	AKAP6	Single nucleotide variant (synonymous variant)	not provided	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 3106370	NM_004274.5(AKAP6):c.841T>C (p.Ser281Pro)	AKAP6 (S281P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3106363	NM_004274.5(AKAP6):c.67G>A (p.Ala23Thr)	AKAP6 (A23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106354	NM_004274.5(AKAP6):c.6601A>T (p.Ser2201Cys)	AKAP6 (S2201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106346	NM_004274.5(AKAP6):c.6524C>T (p.Pro2175Leu)	AKAP6 (P2175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106339	NM_004274.5(AKAP6):c.6194A>T (p.Asp2065Val)	AKAP6 (D2065V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106336	NM_004274.5(AKAP6):c.6154G>A (p.Glu2052Lys)	AKAP6 (E2052K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106331	NM_004274.5(AKAP6):c.6042A>T (p.Lys2014Asn)	AKAP6 (K2014N)	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
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 3106230	NM_004274.5(AKAP6):c.4292C>T (p.Ser1431Leu)	AKAP6 (S1431L)	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 3106222	NM_004274.5(AKAP6):c.4157T>C (p.Val1386Ala)	AKAP6 (V1386A)	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 3106218	NM_004274.5(AKAP6):c.3800A>G (p.Asn1267Ser)	AKAP6 (N1267S)	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 3106194	NM_004274.5(AKAP6):c.2849T>C (p.Met950Thr)	AKAP6 (M950T)	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 3106182	NM_004274.5(AKAP6):c.2709G>C (p.Glu903Asp)	AKAP6 (E903D)	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 3106176	NM_004274.5(AKAP6):c.2647C>T (p.Leu883Phe)	AKAP6 (L883F)	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 3106170	NM_004274.5(AKAP6):c.2585G>A (p.Arg862Gln)	AKAP6 (R862Q)	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 3106145	NM_004274.5(AKAP6):c.2158A>G (p.Ile720Val)	AKAP6 (I720V)	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 3106098	NM_004274.5(AKAP6):c.1060C>G (p.His354Asp)	AKAP6 (H354D)	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 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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 2618343	NM_004274.5(AKAP6):c.1373G>A (p.Cys458Tyr)	AKAP6 (C458Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612942	NM_004274.5(AKAP6):c.6517A>C (p.Ser2173Arg)	AKAP6 (S2173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609793	NM_004274.5(AKAP6):c.6872C>A (p.Ala2291Asp)	AKAP6 (A2291D)	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 2603604	NM_004274.5(AKAP6):c.6028A>C (p.Ser2010Arg)	AKAP6 (S2010R)	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 2592362	NM_004274.5(AKAP6):c.5771G>T (p.Gly1924Val)	AKAP6 (G1924V)	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 2557995	NM_004274.5(AKAP6):c.4817A>G (p.Asn1606Ser)	AKAP6 (N1606S)	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 2538754	NM_004274.5(AKAP6):c.5603A>T (p.His1868Leu)	AKAP6 (H1868L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537421	NM_004274.5(AKAP6):c.5146G>T (p.Ala1716Ser)	AKAP6 (A1716S)	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 2530030	NM_004274.5(AKAP6):c.6661A>G (p.Arg2221Gly)	AKAP6 (R2221G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2527477	NM_004274.5(AKAP6):c.4444A>G (p.Met1482Val)	AKAP6 (M1482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527170	NM_004274.5(AKAP6):c.5999A>T (p.Asp2000Val)	AKAP6 (D2000V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527169	NM_004274.5(AKAP6):c.5998G>T (p.Asp2000Tyr)	AKAP6 (D2000Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522633	NM_004274.5(AKAP6):c.6664G>T (p.Ala2222Ser)	AKAP6 (A2222S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2514375	NM_004274.5(AKAP6):c.1781C>T (p.Pro594Leu)	AKAP6 (P594L)	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 2492986	NM_004274.5(AKAP6):c.5586T>G (p.Asn1862Lys)	AKAP6 (N1862K)	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 2488568	NM_004274.5(AKAP6):c.6455T>C (p.Ile2152Thr)	AKAP6 (I2152T)	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 2479415	NM_004274.5(AKAP6):c.4004C>A (p.Ser1335Tyr)	AKAP6 (S1335Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478912	NM_004274.5(AKAP6):c.6485G>A (p.Gly2162Asp)	AKAP6 (G2162D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2471829	NM_004274.5(AKAP6):c.536A>C (p.Gln179Pro)	AKAP6 (Q179P)	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 2410225	NM_004274.5(AKAP6):c.2293A>G (p.Met765Val)	AKAP6 (M765V)	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 2399028	NM_004274.5(AKAP6):c.3200G>A (p.Ser1067Asn)	AKAP6 (S1067N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398766	NM_004274.5(AKAP6):c.5621C>T (p.Thr1874Ile)	AKAP6 (T1874I)	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 2385075	NM_004274.5(AKAP6):c.1588C>T (p.Pro530Ser)	AKAP6 (P530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382738	NM_004274.5(AKAP6):c.5016G>A (p.Met1672Ile)	AKAP6 (M1672I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380410	NM_004274.5(AKAP6):c.6572C>G (p.Ala2191Gly)	AKAP6 (A2191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371895	NM_004274.5(AKAP6):c.5102C>T (p.Ser1701Leu)	AKAP6 (S1701L)	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 2363323	NM_004274.5(AKAP6):c.514G>A (p.Ala172Thr)	AKAP6 (A172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361804	NM_004274.5(AKAP6):c.5131A>T (p.Ile1711Phe)	AKAP6 (I1711F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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