ClinVar for Gene (Select 29941) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213972	NM_013355.5(PKN3):c.997G>A (p.Val333Met)	PKN3 (V333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213970	NM_013355.5(PKN3):c.785C>T (p.Pro262Leu)	PKN3 (P262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213969	NM_013355.5(PKN3):c.74G>A (p.Arg25Gln)	PKN3 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213968	NM_013355.5(PKN3):c.718C>A (p.Leu240Met)	PKN3 (L240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213967	NM_013355.5(PKN3):c.679C>A (p.Gln227Lys)	PKN3 (Q227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213966	NM_013355.5(PKN3):c.57G>C (p.Glu19Asp)	PKN3 (E19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213965	NM_013355.5(PKN3):c.521C>A (p.Pro174Gln)	PKN3 (P174Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213964	NM_013355.5(PKN3):c.515C>T (p.Pro172Leu)	PKN3 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213963	NM_013355.5(PKN3):c.287G>A (p.Arg96Gln)	PKN3 (R96Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213962	NM_013355.5(PKN3):c.2482G>T (p.Ala828Ser)	PKN3 (A828S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213961	NM_013355.5(PKN3):c.247C>T (p.Pro83Ser)	PKN3 (P83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213960	NM_013355.5(PKN3):c.244G>A (p.Gly82Ser)	PKN3 (G82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213959	NM_013355.5(PKN3):c.2185G>A (p.Glu729Lys)	PKN3 (E729K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213958	NM_013355.5(PKN3):c.212T>G (p.Leu71Arg)	PKN3 (L71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213957	NM_013355.5(PKN3):c.202C>T (p.His68Tyr)	PKN3 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213956	NM_013355.5(PKN3):c.1986C>T (p.Arg662=)	PKN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3213955	NM_013355.5(PKN3):c.188G>A (p.Arg63His)	PKN3 (R63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213954	NM_013355.5(PKN3):c.182A>C (p.Asn61Thr)	PKN3 (N61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213953	NM_013355.5(PKN3):c.1792C>T (p.Arg598Trp)	PKN3 (R598W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213952	NM_013355.5(PKN3):c.1703G>A (p.Gly568Glu)	PKN3 (G568E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213951	NM_013355.5(PKN3):c.1653G>T (p.Arg551Ser)	PKN3 (R551S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213950	NM_013355.5(PKN3):c.1594C>A (p.Arg532Ser)	PKN3 (R532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213949	NM_013355.5(PKN3):c.1307G>A (p.Arg436His)	PKN3 (R436H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063124	GRCh37/hg19 9q34.11(chr9:131282253-131530589)x1	DYNC2I2, GLE1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2619684	NM_013355.5(PKN3):c.1969C>A (p.Pro657Thr)	PKN3 (P657T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616785	NM_013355.5(PKN3):c.359T>C (p.Val120Ala)	PKN3 (V120A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612059	NM_013355.5(PKN3):c.889G>C (p.Gly297Arg)	PKN3 (G297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602051	NM_013355.5(PKN3):c.1525C>A (p.Pro509Thr)	PKN3 (P509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590469	NM_013355.5(PKN3):c.983G>A (p.Ser328Asn)	PKN3 (S328N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548132	NM_013355.5(PKN3):c.2500C>T (p.Pro834Ser)	PKN3 (P819L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532117	NM_013355.5(PKN3):c.793C>T (p.Pro265Ser)	PKN3 (P265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527690	NM_013355.5(PKN3):c.2654G>T (p.Arg885Leu)	PKN3 (R885L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2524446	NM_013355.5(PKN3):c.290C>T (p.Pro97Leu)	PKN3 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519790	NM_013355.5(PKN3):c.2663A>C (p.Glu888Ala)	PKN3 (E888A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2511871	NM_013355.5(PKN3):c.2188G>A (p.Val730Met)	PKN3 (V730M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488160	NM_013355.5(PKN3):c.1507T>A (p.Leu503Met)	PKN3 (L503M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487418	NM_013355.5(PKN3):c.758T>G (p.Val253Gly)	PKN3 (V253G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485499	NM_013355.5(PKN3):c.1459G>A (p.Ala487Thr)	PKN3 (A487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473858	NM_013355.5(PKN3):c.2144G>A (p.Arg715Gln)	PKN3 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471542	NM_013355.5(PKN3):c.1189C>T (p.His397Tyr)	PKN3 (H397Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468540	NM_013355.5(PKN3):c.1585C>T (p.Arg529Cys)	PKN3 (R529C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468210	NM_013355.5(PKN3):c.812C>T (p.Pro271Leu)	PKN3 (P271L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465998	NM_013355.5(PKN3):c.941G>T (p.Arg314Leu)	PKN3 (R314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2412027	NM_013355.5(PKN3):c.1420C>T (p.Pro474Ser)	PKN3 (P474S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407007	NM_013355.5(PKN3):c.1536G>C (p.Lys512Asn)	PKN3 (K512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403068	NM_013355.5(PKN3):c.2318A>C (p.Asn773Thr)	PKN3 (N773T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399439	NM_013355.5(PKN3):c.1274G>A (p.Arg425Gln)	PKN3 (R425Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391501	NM_013355.5(PKN3):c.127G>A (p.Val43Met)	PKN3 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389283	NM_013355.5(PKN3):c.893G>A (p.Arg298His)	PKN3 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388954	NM_013355.5(PKN3):c.1394G>T (p.Cys465Phe)	PKN3 (C465F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388747	NM_013355.5(PKN3):c.2167C>T (p.Pro723Ser)	PKN3 (P723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381935	NM_013355.5(PKN3):c.1678C>T (p.Arg560Cys)	PKN3 (R560C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379192	NM_013355.5(PKN3):c.70C>T (p.Arg24Cys)	PKN3 (R24C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378635	NM_013355.5(PKN3):c.1403C>T (p.Pro468Leu)	PKN3 (P468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376862	NM_013355.5(PKN3):c.1543C>T (p.Arg515Cys)	PKN3 (R515C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374184	NM_013355.5(PKN3):c.2401C>T (p.Arg801Cys)	PKN3 (R801C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372115	NM_013355.5(PKN3):c.187C>T (p.Arg63Cys)	PKN3 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356809	NM_013355.5(PKN3):c.1210G>T (p.Val404Leu)	PKN3 (V404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354873	NM_013355.5(PKN3):c.851G>A (p.Arg284His)	PKN3 (R284H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354834	NM_013355.5(PKN3):c.1273C>T (p.Arg425Trp)	PKN3 (R425W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351705	NM_013355.5(PKN3):c.2314G>A (p.Val772Ile)	PKN3 (V772I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342192	NM_013355.5(PKN3):c.1037G>T (p.Trp346Leu)	PKN3 (W346L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341973	NM_013355.5(PKN3):c.634C>T (p.Arg212Cys)	PKN3 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341335	NM_013355.5(PKN3):c.749G>A (p.Arg250His)	PKN3 (R250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336996	NM_013355.5(PKN3):c.947A>C (p.Lys316Thr)	PKN3 (K316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336002	NM_013355.5(PKN3):c.748C>T (p.Arg250Cys)	PKN3 (R250C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331674	NM_013355.5(PKN3):c.1318G>C (p.Asp440His)	PKN3 (D440H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327593	NM_013355.5(PKN3):c.43C>A (p.Pro15Thr)	PKN3 (P15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326059	NM_013355.5(PKN3):c.2168C>T (p.Pro723Leu)	PKN3 (P723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304873	NM_013355.5(PKN3):c.2273C>T (p.Pro758Leu)	PKN3 (P758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304872	NM_013355.5(PKN3):c.2223C>G (p.Asp741Glu)	PKN3 (D741E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304819	NM_013355.5(PKN3):c.2629C>T (p.Arg877Trp)	PKN3 (R877W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2293565	NM_013355.5(PKN3):c.2206T>A (p.Tyr736Asn)	PKN3 (Y736N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287553	NM_013355.5(PKN3):c.626C>T (p.Thr209Ile)	PKN3 (T209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283197	NM_013355.5(PKN3):c.1700G>A (p.Arg567Gln)	PKN3 (R567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281322	NM_013355.5(PKN3):c.1630T>A (p.Ser544Thr)	PKN3 (S544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277735	NM_013355.5(PKN3):c.1423A>G (p.Lys475Glu)	PKN3 (K475E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260627	NM_013355.5(PKN3):c.1426G>A (p.Gly476Arg)	PKN3 (G476R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256515	NM_013355.5(PKN3):c.2300T>C (p.Val767Ala)	PKN3 (V767A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251211	NM_013355.5(PKN3):c.823A>G (p.Thr275Ala)	PKN3 (T275A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222705	NM_013355.5(PKN3):c.2002G>A (p.Val668Ile)	PKN3 (V668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215031	NM_013355.5(PKN3):c.1058C>G (p.Ser353Cys)	PKN3 (S353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214263	NM_013355.5(PKN3):c.1579A>T (p.Thr527Ser)	PKN3 (T527S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209804	NM_013355.5(PKN3):c.940C>T (p.Arg314Trp)	PKN3 (R314W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206212	NM_013355.5(PKN3):c.331C>T (p.Arg111Trp)	PKN3 (R111W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 988939	GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3	DOLK, DYNC2I2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 930657	NM_013355.5(PKN3):c.1363G>T (p.Gly455Trp)	PKN3 (G455W)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 930656	NM_013355.5(PKN3):c.25-1G>T	PKN3	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 815298	GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3	GLE1, SH3GLB2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815297	GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1	ENDOG, SET +31 more	Copy number loss	not provided	GPathogenic
Select item 687384	GRCh37/hg19 9q34.11(chr9:131433808-131537679)x1	PKN3, SET +2 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic

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