ClinVar for Gene (Select 10566) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2622614	NM_001278309.2(AKAP3):c.1084G>T (p.Val362Phe)	AKAP3 (V362F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621645	NM_001278309.2(AKAP3):c.1625G>A (p.Gly542Glu)	AKAP3 (G542E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620008	NM_001278309.2(AKAP3):c.1045A>G (p.Met349Val)	AKAP3, LOC120807612 (M349V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612778	NM_001278309.2(AKAP3):c.806G>A (p.Arg269Gln)	AKAP3, LOC120807612 (R269Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601290	NM_001278309.2(AKAP3):c.967C>T (p.Leu323Phe)	AKAP3, LOC120807612 (L323F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517235	NM_001278309.2(AKAP3):c.1922A>T (p.Tyr641Phe)	AKAP3 (Y641F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508069	NM_001278309.2(AKAP3):c.580A>G (p.Lys194Glu)	AKAP3, LOC120807612 (K194E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500166	NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)	AKAP3 (C15Y)	Single nucleotide variant (missense variant)	Spermatogenic failure 82	GPathogenic
Select item 2500165	NM_001278309.2(AKAP3):c.2286_2287del (p.His762fs)	AKAP3 (H762fs)	Microsatellite (frameshift variant)	Spermatogenic failure 82	GPathogenic
Select item 2496139	NM_001278309.2(AKAP3):c.1864G>A (p.Val622Ile)	AKAP3 (V622I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486490	NM_001278309.2(AKAP3):c.683A>G (p.Gln228Arg)	AKAP3, LOC120807612 (Q228R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477490	NM_001278309.2(AKAP3):c.1537C>T (p.Pro513Ser)	AKAP3 (P513S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476969	NM_001278309.2(AKAP3):c.1241A>G (p.Asp414Gly)	AKAP3 (D414G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466021	NM_001278309.2(AKAP3):c.2455G>A (p.Glu819Lys)	AKAP3 (E819K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465642	NM_001278309.2(AKAP3):c.2501A>G (p.Asn834Ser)	AKAP3 (N834S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463377	NM_001278309.2(AKAP3):c.1361T>A (p.Ile454Asn)	AKAP3 (I454N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461232	NM_001278309.2(AKAP3):c.2137A>G (p.Ser713Gly)	AKAP3 (S713G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458779	NM_001278309.2(AKAP3):c.1337C>T (p.Ala446Val)	AKAP3 (A446V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2455386	NM_001278309.2(AKAP3):c.1323G>C (p.Glu441Asp)	AKAP3 (E441D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2426569	NC_000012.11:g.(?_4368352)_(4796274_?)del	AKAP3, C12orf4 +7 more	Deletion	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, C12orf4 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2401742	NM_001278309.2(AKAP3):c.1285A>C (p.Lys429Gln)	AKAP3 (K429Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396630	NM_001278309.2(AKAP3):c.418C>T (p.Arg140Cys)	AKAP3, LOC120807612 (R140C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395624	NM_001278309.2(AKAP3):c.1174G>A (p.Glu392Lys)	AKAP3 (E392K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387483	NM_001278309.2(AKAP3):c.236A>G (p.Lys79Arg)	AKAP3, LOC120807612 (K79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385820	NM_001278309.2(AKAP3):c.673A>G (p.Lys225Glu)	AKAP3, LOC120807612 (K225E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382494	NM_001278309.2(AKAP3):c.1868A>T (p.Lys623Met)	AKAP3 (K623M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375097	NM_001278309.2(AKAP3):c.1415T>C (p.Leu472Pro)	AKAP3 (L472P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2372690	NM_001278309.2(AKAP3):c.389G>A (p.Arg130His)	AKAP3, LOC120807612 (R130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360138	NM_001278309.2(AKAP3):c.538A>T (p.Asn180Tyr)	AKAP3, LOC120807612 (N180Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358321	NM_001278309.2(AKAP3):c.1940C>T (p.Pro647Leu)	AKAP3 (P647L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340365	NM_001278309.2(AKAP3):c.412A>G (p.Met138Val)	AKAP3, LOC120807612 (M138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327499	NM_001278309.2(AKAP3):c.1729C>G (p.Pro577Ala)	AKAP3 (P577A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294099	NM_001278309.2(AKAP3):c.179G>A (p.Arg60Gln)	AKAP3, LOC120807612 (R60Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290214	NM_001278309.2(AKAP3):c.532C>T (p.Leu178Phe)	AKAP3, LOC120807612 (L178F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271839	NM_001278309.2(AKAP3):c.755A>G (p.Asp252Gly)	AKAP3, LOC120807612 (D252G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2268672	NM_001278309.2(AKAP3):c.2281A>G (p.Asn761Asp)	AKAP3 (N761D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266592	NM_001278309.2(AKAP3):c.251A>G (p.Asp84Gly)	AKAP3, LOC120807612 (D84G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250264	NM_001278309.2(AKAP3):c.1349G>A (p.Gly450Asp)	AKAP3 (G450D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245213	NM_001278309.2(AKAP3):c.1553A>G (p.Tyr518Cys)	AKAP3 (Y518C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2243829	NM_001278309.2(AKAP3):c.1027A>G (p.Ser343Gly)	AKAP3, LOC120807612 (S343G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220697	NM_001278309.2(AKAP3):c.1795C>T (p.Arg599Trp)	AKAP3 (R599W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211649	NM_001278309.2(AKAP3):c.874G>A (p.Val292Met)	AKAP3, LOC120807612 (V292M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206917	NM_001278309.2(AKAP3):c.1067C>T (p.Ser356Leu)	AKAP3 (S356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206823	NM_001278309.2(AKAP3):c.1853C>T (p.Pro618Leu)	AKAP3 (P618L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204186	NM_001278309.2(AKAP3):c.877G>A (p.Val293Ile)	AKAP3, LOC120807612 (V293I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527678	GRCh37/hg19 12p13.32(chr12:4520736-4727528)	AKAP3, C12orf4 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	C1R, NINJ2 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1228922	NM_001278309.2(AKAP3):c.-522C>G	AKAP3, NDUFA9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1047901	GRCh37/hg19 12p13.32(chr12:3619010-5221363)	TIGAR, AKAP3 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 998926	NC_000012.11:g.(?_4479509)_(6235003_?)dup	AKAP3, ANO2 +12 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 779439	NM_001278309.2(AKAP3):c.168C>T (p.Phe56=)	AKAP3, LOC120807612	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720004	NM_001278309.2(AKAP3):c.2472G>A (p.Val824=)	AKAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685750	GRCh37/hg19 12p13.32(chr12:4748656-4856696)x3	AKAP3, GALNT8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563976	GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1	GALNT8, NTF3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443085	GRCh37/hg19 12p13.32(chr12:4118255-4748658)x3	AKAP3, C12orf4 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442073	GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	AKAP3, C12orf4 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	LOC130007148, LOC130007149 +223 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic

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