ClinVar for Gene (Select 283234) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 150

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264386	NM_032251.6(CCDC88B):c.739G>A (p.Ala247Thr)	CCDC88B (A247T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264385	NM_032251.6(CCDC88B):c.4276C>G (p.Pro1426Ala)	CCDC88B (P1426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264384	NM_032251.6(CCDC88B):c.2488C>T (p.Arg830Cys)	CCDC88B (R830C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264383	NM_032251.6(CCDC88B):c.971A>G (p.Glu324Gly)	CCDC88B (E324G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264382	NM_032251.6(CCDC88B):c.472C>T (p.Arg158Cys)	CCDC88B (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264381	NM_032251.6(CCDC88B):c.1015T>G (p.Cys339Gly)	CCDC88B (C339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264380	NM_032251.6(CCDC88B):c.4200C>G (p.Phe1400Leu)	CCDC88B (F1400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264379	NM_032251.6(CCDC88B):c.1618G>A (p.Val540Met)	CCDC88B (V540M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264378	NM_032251.6(CCDC88B):c.2742G>C (p.Gln914His)	CCDC88B (Q914H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264377	NM_032251.6(CCDC88B):c.251A>G (p.Asp84Gly)	CCDC88B (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264376	NM_032251.6(CCDC88B):c.1732G>C (p.Glu578Gln)	CCDC88B (E578Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264375	NM_032251.6(CCDC88B):c.2284G>A (p.Ala762Thr)	CCDC88B (A762T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264374	NM_032251.6(CCDC88B):c.4325A>T (p.Glu1442Val)	CCDC88B (E1442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264373	NM_032251.6(CCDC88B):c.3040C>T (p.Arg1014Cys)	CCDC88B (R1014C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264372	NM_032251.6(CCDC88B):c.1862G>T (p.Gly621Val)	CCDC88B (G621V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264371	NM_032251.6(CCDC88B):c.4127G>A (p.Arg1376Gln)	CCDC88B (R1376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264370	NM_032251.6(CCDC88B):c.3979C>T (p.Arg1327Trp)	CCDC88B (R1327W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264369	NM_032251.6(CCDC88B):c.3143G>A (p.Arg1048Gln)	CCDC88B (R1048Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264368	NM_032251.6(CCDC88B):c.3299G>A (p.Arg1100Gln)	CCDC88B (R1100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264367	NM_032251.6(CCDC88B):c.1369G>A (p.Glu457Lys)	CCDC88B (E457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3139562	NM_032251.6(CCDC88B):c.7G>A (p.Gly3Arg)	CCDC88B, LOC102723878 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139561	NM_032251.6(CCDC88B):c.798G>T (p.Gln266His)	CCDC88B (Q266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139560	NM_032251.6(CCDC88B):c.755C>T (p.Pro252Leu)	CCDC88B (P252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139559	NM_032251.6(CCDC88B):c.730C>T (p.Pro244Ser)	CCDC88B (P244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139558	NM_032251.6(CCDC88B):c.448T>C (p.Cys150Arg)	CCDC88B (C150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139557	NM_032251.6(CCDC88B):c.4267C>A (p.His1423Asn)	CCDC88B (H1423N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139556	NM_032251.6(CCDC88B):c.4253G>A (p.Arg1418Gln)	CCDC88B (R1418Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139555	NM_032251.6(CCDC88B):c.4171G>A (p.Gly1391Arg)	CCDC88B (G1391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139554	NM_032251.6(CCDC88B):c.4079G>C (p.Gly1360Ala)	CCDC88B (G1360A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139553	NM_032251.6(CCDC88B):c.3901G>C (p.Val1301Leu)	CCDC88B (V1301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139552	NM_032251.6(CCDC88B):c.3856C>T (p.Arg1286Cys)	CCDC88B (R1286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139550	NM_032251.6(CCDC88B):c.3727C>T (p.Arg1243Trp)	CCDC88B (R1243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139549	NM_032251.6(CCDC88B):c.3490G>A (p.Glu1164Lys)	CCDC88B (E1164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139548	NM_032251.6(CCDC88B):c.2967G>A (p.Met989Ile)	CCDC88B (M989I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139546	NM_032251.6(CCDC88B):c.2792C>T (p.Ala931Val)	CCDC88B (A931V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139545	NM_032251.6(CCDC88B):c.2677C>T (p.Arg893Cys)	CCDC88B (R893C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139543	NM_032251.6(CCDC88B):c.2660G>A (p.Arg887Gln)	CCDC88B (R887Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139542	NM_032251.6(CCDC88B):c.2468G>A (p.Arg823Gln)	CCDC88B (R823Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139540	NM_032251.6(CCDC88B):c.1886C>A (p.Ala629Asp)	CCDC88B (A629D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139539	NM_032251.6(CCDC88B):c.1537C>T (p.His513Tyr)	CCDC88B (H513Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139538	NM_032251.6(CCDC88B):c.1536C>A (p.Asp512Glu)	CCDC88B (D512E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139537	NM_032251.6(CCDC88B):c.1415G>A (p.Arg472Gln)	CCDC88B (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139536	NM_032251.6(CCDC88B):c.1200G>C (p.Glu400Asp)	CCDC88B (E400D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139535	NM_032251.6(CCDC88B):c.1093G>T (p.Ala365Ser)	CCDC88B (A365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641922	NM_032251.6(CCDC88B):c.1728G>A (p.Pro576=)	CCDC88B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623760	NM_032251.6(CCDC88B):c.812G>A (p.Arg271Gln)	CCDC88B (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623759	NM_032251.6(CCDC88B):c.2537T>G (p.Met846Arg)	CCDC88B (M846R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613281	NM_032251.6(CCDC88B):c.2375G>A (p.Arg792Gln)	CCDC88B (R792Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612531	NM_032251.6(CCDC88B):c.4021G>C (p.Asp1341His)	CCDC88B (D1341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591172	NM_032251.6(CCDC88B):c.2560C>T (p.Arg854Cys)	CCDC88B (R854C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569927	NM_032251.6(CCDC88B):c.203T>C (p.Ile68Thr)	CCDC88B, LOC102723878 +1 more (I68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562454	NM_032251.6(CCDC88B):c.802C>T (p.Arg268Trp)	CCDC88B (R268W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555658	NM_032251.6(CCDC88B):c.1282C>T (p.Arg428Trp)	CCDC88B (R428W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553205	NM_032251.6(CCDC88B):c.281T>A (p.Leu94Gln)	CCDC88B (L94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546061	NM_032251.6(CCDC88B):c.4274G>T (p.Gly1425Val)	CCDC88B (G1425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544720	NM_032251.6(CCDC88B):c.659G>A (p.Arg220His)	CCDC88B (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543622	NM_032251.6(CCDC88B):c.629T>G (p.Met210Arg)	CCDC88B (M210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541517	NM_032251.6(CCDC88B):c.4394C>T (p.Pro1465Leu)	CCDC88B (P1465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540079	NM_032251.6(CCDC88B):c.1529C>T (p.Ala510Val)	CCDC88B (A510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538020	NM_032251.6(CCDC88B):c.392A>C (p.Glu131Ala)	CCDC88B (E131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530159	NM_032251.6(CCDC88B):c.3148C>G (p.Leu1050Val)	CCDC88B (L1050V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518412	NM_032251.6(CCDC88B):c.3857G>T (p.Arg1286Leu)	CCDC88B (R1286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518227	NM_032251.6(CCDC88B):c.982C>A (p.Arg328Ser)	CCDC88B (R328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517744	NM_032251.6(CCDC88B):c.3568C>T (p.Arg1190Trp)	CCDC88B (R1190W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517320	NM_032251.6(CCDC88B):c.1218C>G (p.Asp406Glu)	CCDC88B (D406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516017	NM_032251.6(CCDC88B):c.1604C>T (p.Pro535Leu)	CCDC88B (P535L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515037	NM_032251.6(CCDC88B):c.947G>A (p.Arg316His)	CCDC88B (R316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514048	NM_032251.6(CCDC88B):c.2639G>A (p.Arg880Gln)	CCDC88B (R880Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509109	NM_032251.6(CCDC88B):c.982C>T (p.Arg328Cys)	CCDC88B (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482737	NM_032251.6(CCDC88B):c.2489G>A (p.Arg830His)	CCDC88B (R830H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482492	NM_032251.6(CCDC88B):c.2553C>G (p.Ser851Arg)	CCDC88B (S851R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479617	NM_032251.6(CCDC88B):c.3165G>T (p.Glu1055Asp)	CCDC88B (E1055D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477850	NM_032251.6(CCDC88B):c.3973C>T (p.Arg1325Trp)	CCDC88B (R1325W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477849	NM_032251.6(CCDC88B):c.1981G>C (p.Glu661Gln)	CCDC88B (E661Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474103	NM_032251.6(CCDC88B):c.3848C>T (p.Ala1283Val)	CCDC88B (A1283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469041	NM_032251.6(CCDC88B):c.172G>A (p.Asp58Asn)	CCDC88B, LOC102723878 (D58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468881	NM_032251.6(CCDC88B):c.3070C>T (p.Arg1024Trp)	CCDC88B (R1024W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467070	NM_032251.6(CCDC88B):c.1367C>T (p.Ala456Val)	CCDC88B (A456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465161	NM_032251.6(CCDC88B):c.2245G>A (p.Glu749Lys)	CCDC88B (E749K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455763	NM_032251.6(CCDC88B):c.2527G>A (p.Glu843Lys)	CCDC88B (E843K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454387	NM_032251.6(CCDC88B):c.2693C>T (p.Ala898Val)	CCDC88B (A898V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2411753	NM_032251.6(CCDC88B):c.3704G>A (p.Arg1235Gln)	CCDC88B (R1235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411242	NM_032251.6(CCDC88B):c.1414C>T (p.Arg472Trp)	CCDC88B (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409287	NM_032251.6(CCDC88B):c.1495C>A (p.Pro499Thr)	CCDC88B (P499T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407339	NM_032251.6(CCDC88B):c.3681G>T (p.Gln1227His)	CCDC88B (Q1227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406259	NM_032251.6(CCDC88B):c.3391G>A (p.Glu1131Lys)	CCDC88B (E1131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398188	NM_032251.6(CCDC88B):c.2432G>A (p.Arg811Gln)	CCDC88B (R811Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394822	NM_032251.6(CCDC88B):c.554T>A (p.Val185Glu)	CCDC88B (V185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390633	NM_032251.6(CCDC88B):c.1081G>C (p.Gly361Arg)	CCDC88B (G361R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388782	NM_032251.6(CCDC88B):c.133C>G (p.Pro45Ala)	CCDC88B, LOC102723878 (P45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388605	NM_032251.6(CCDC88B):c.1070G>A (p.Arg357Gln)	CCDC88B (R357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388582	NM_032251.6(CCDC88B):c.722C>T (p.Pro241Leu)	CCDC88B (P241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387193	NM_032251.6(CCDC88B):c.4058C>T (p.Pro1353Leu)	CCDC88B (P1353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379476	NM_032251.6(CCDC88B):c.1397G>A (p.Arg466Lys)	CCDC88B (R466K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371473	NM_032251.6(CCDC88B):c.4112C>T (p.Pro1371Leu)	CCDC88B (P1371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2