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Items: 44

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
APOEAPOE3 ISOFORMPathogenic
(Sep 10, 1981)
no assertion criteria provided
2.
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Sep 1, 1992)
no assertion criteria provided
3.
GRCh37:
Chr19:45408836
GRCh38:
Chr19:44905579
APOEMyocardial infarction, Coronary artery disease, severe, susceptibility torisk factor
(Jun 1, 2003)
no assertion criteria provided
4.
GRCh37:
Chr19:45411034
GRCh38:
Chr19:44907777
APOEHYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5Pathogenic
(Aug 1, 1995)
no assertion criteria provided
5.
GRCh37:
Chr19:45411064
GRCh38:
Chr19:44907807
APOEAPOE5 VARIANTPathogenic
(Apr 1, 1991)
no assertion criteria provided
6.
GRCh37:
Chr19:45411100
GRCh38:
Chr19:44907843
APOELipoprotein glomerulopathyPathogenic
(Dec 13, 2007)
no assertion criteria provided
7.
GRCh37:
Chr19:45411110
GRCh38:
Chr19:44907853
APOEnot specifiedUncertain significance
(Jun 28, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:45411121
GRCh38:
Chr19:44907864
APOEnot specifiedUncertain significance
(Aug 15, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr19:45411151
GRCh38:
Chr19:44907894
APOEAPOE3(-)-FREIBURGPathogenic
(Aug 5, 2016)
no assertion criteria provided
10.
GRCh37:
Chr19:45411788
GRCh38:
Chr19:44908531
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Feb 15, 1987)
no assertion criteria provided
11.
GRCh37:
Chr19:45411844
GRCh38:
Chr19:44908587
APOEnot providednot providedno assertion provided
12.
GRCh37:
Chr19:45411902
Chr19:45412061
GRCh38:
Chr19:44908645
Chr19:44908804
APOEAPOE3 VARIANTPathogenic
(Jul 1, 2008)
no assertion criteria provided
13.
GRCh37:
Chr19:45411917
GRCh38:
Chr19:44908660
APOEMajor depressive disordernot provided
(Oct 28, 2013)
no assertion provided
14.
GRCh37:
Chr19:45411941
Chr19:45411858
GRCh38:
Chr19:44908684
Chr19:44908601
APOEAPOE4 VARIANTassociation
(Jan 10, 2018)
no assertion criteria provided
15.
GRCh37:
Chr19:45411941
Chr19:45411110
GRCh38:
Chr19:44908684
Chr19:44907853
APOEAPOE4(-)-FREIBURGPathogenic
(Feb 15, 2017)
no assertion criteria provided
16.
GRCh37:
Chr19:45411941
Chr19:45412358
GRCh38:
Chr19:44908684
Chr19:44909101
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(May 1, 1993)
no assertion criteria provided
17.
GRCh37:
Chr19:45411941
Chr19:45412031
GRCh38:
Chr19:44908684
Chr19:44908774
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Feb 14, 2017)
no assertion criteria provided
18.
GRCh37:
Chr19:45411941
GRCh38:
Chr19:44908684
APOEAlzheimer disease 2, not providedother
(Feb 11, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr19:45411968-45411988
GRCh38:
Chr19:44908711-44908731
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Apr 1, 2004)
no assertion criteria provided
20.
GRCh37:
Chr19:45412004
GRCh38:
Chr19:44908747
APOEMajor depressive disordernot provided
(Oct 28, 2013)
no assertion provided
21.
GRCh37:
Chr19:45412008
GRCh38:
Chr19:44908751
APOEAPOE2 VARIANTPathogenic
(Feb 21, 2017)
no assertion criteria provided
22.
GRCh37:
Chr19:45412013
GRCh38:
Chr19:44908756
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Nov 1, 1988)
no assertion criteria provided
23.
GRCh37:
Chr19:45412014
GRCh38:
Chr19:44908757
APOEAbnormality of lipid metabolismLikely pathogenic
(Dec 21, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr19:45412040
Chr19:45411064
GRCh38:
Chr19:44908783
Chr19:44907807
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Nov 1, 1992)
no assertion criteria provided
25.
GRCh37:
Chr19:45412040
GRCh38:
Chr19:44908783
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Nov 1, 1988)
no assertion criteria provided
26.
GRCh37:
Chr19:45412041
GRCh38:
Chr19:44908784
APOELipoprotein glomerulopathyPathogenic
(Oct 6, 2000)
no assertion criteria provided
27.
GRCh37:
Chr19:45412041
GRCh38:
Chr19:44908784
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Nov 1, 1990)
no assertion criteria provided
28.
GRCh37:
Chr19:45412043
GRCh38:
Chr19:44908786
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Jan 1, 1990)
no assertion criteria provided
29.
GRCh37:
Chr19:45412043
GRCh38:
Chr19:44908786
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Aug 1, 1995)
no assertion criteria provided
30.
GRCh37:
Chr19:45412053-45412055
GRCh38:
Chr19:44908796-44908798
APOESea-blue histiocyte syndromePathogenic
(Apr 2, 2014)
no assertion criteria provided
31.
GRCh37:
Chr19:45412079
Chr19:45412314
GRCh38:
Chr19:44908822
Chr19:44909057
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(May 1, 1993)
no assertion criteria provided
32.
GRCh37:
Chr19:45412079
Chr19:45412278
GRCh38:
Chr19:44908822
Chr19:44909021
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Feb 21, 2017)
no assertion criteria provided
33.
GRCh37:
Chr19:45412079
Chr19:45411987
GRCh38:
Chr19:44908822
Chr19:44908730
APOEApolipoproteinemia E1Pathogenic
(Apr 1, 1984)
no assertion criteria provided
34.
GRCh37:
Chr19:45412079
GRCh38:
Chr19:44908822
APOEFamilial type 3 hyperlipoproteinemia, not provided, atorvastatin response - Efficacy
drug response
(Feb 26, 2016)
reviewed by expert panel
35.
GRCh37:
Chr19:45412236
GRCh38:
Chr19:44908979
APOEFamilial type 3 hyperlipoproteinemiaPathogenic
(Nov 1, 1992)
no assertion criteria provided
36.
GRCh37:
Chr19:45412289
GRCh38:
Chr19:44909032
APOEAPOE2-DUNEDINPathogenic
(Mar 1, 1991)
no assertion criteria provided
37.
GRCh37:
Chr19:45412337
Chr19:45412340
GRCh38:
Chr19:44909080
Chr19:44909083
APOEHYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7Pathogenic
(Aug 1, 1995)
no assertion criteria provided
38.
GRCh37:
Chr19:45412428
GRCh38:
Chr19:44909171
APOEAPOE4 VARIANTPathogenic
(May 1, 1993)
no assertion criteria provided
39.
GRCh37:
Chr19:45412493
GRCh38:
Chr19:44909236
APOEAPOE4(+)Pathogenic
(May 1, 1993)
no assertion criteria provided
40.
GRCh37:
Chr19:260912-58956888
A1BG, ACP5, ACTN4, AP2A1, AES, AKT2, AMH, APLP1, APOC1, APOC2, APOC4, APOE, KLK3, ASNA1, ATP1A3, ATP4A, ATP5F1D, AXL, AZU1, BAX, BCAT2, BCKDHA, BCL3, HCN2, CEACAM1, BLVRB, BSG, BST2, C3, C5AR1, CA11, CACNA1A, CALM3, CALR, CAPNS1, CAPS, CCNE1, CD22, CD33, SIGLEC6, CD37, CD70, CD79A, ADGRE5, CDC34, CDKN2D, CEACAM5, CEBPA, CEBPG, CGB3, CEACAM3, CEACAM7, CEACAM8, CEACAM4, CIRBP, TBCB, CKM, AP2S1, CLC, CLPTM1, CNN1, CNN2, COMP, COX6B1, COX7A1, CRX, CSNK1G2, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DAPK3, DBP, CFD, DHPS, DMPK, DMWD, DNASE2, DNM2, DNMT1, ARID3A, ECH1, EEF2, EFNA2, MEGF8, ELANE, ELAVL1, ELAVL3, EMP3, ADGRE1, EPOR, NR2F6, ERCC1, ERCC2, ERF, FBL, ETFB, ETV2, FARSA, FCAR, FCER2, FCGRT, FLT3LG, FOSB, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, GAMT, GCDH, GDF1, GIPR, GNA11, GNA15, GNG7, GPI, GPR4, GPR32, FFAR1, FFAR3, GPR42, FFAR2, MKNK2, GPX4, GRIK5, GRIN2D, ARHGAP35, GSK3A, GTF2F1, GYS1, GZMM, HAS1, FOXA3, HNRNPL, HPN, HRC, PRMT1, DNAJB1, ICAM1, ICAM3, ICAM4, IL11, IL12RB1, ILF3, INSL3, INSR, IRF3, JAK3, JUNB, JUND, KCNA7, KCNC3, KCNJ14, KCNN1, KCNN4, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KLK1, KLK2, LAIR1, LAIR2, LDLR, LGALS4, LGALS7, LHB, LIG1, LIM2, LIPE, LRP3, CYP4F3, BCAM, LYL1, MAG, MAN2B1, MATK, RAB8A, MAP3K10, MLLT1, MYO1F, MYBPC2, GADD45B, MYO9B, HNRNPM, CEACAM6, NDUFA3, NDUFA7, NDUFB7, NFIC, NFIX, NFKBIB, NKG7, CNOT3, NOTCH3, NOVA2, NPAS1, NPHS1, NRTN, NTF4, NUCB1, OAZ1, P2RY11, PAFAH1B3, PALM, PDE4A, PDE4C, PEG3, PEPD, PIK3R2, PIN1, PLAUR, FXYD1, FXYD3, POLD1, POLR2E, POLR2I, POLRMT, POU2F2, PPP2R1A, PPP5C, PRKACA, PRKCG, PKN1, PRKCSH, MAP2K2, MAP2K7, PSPN, PRRG2, KLK7, KLK6, KLK10, PRTN3, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, NECTIN2, RAB3A, RAD23A, RELB, UPF1, RFX1, RFX2, RPL18, RPL18A, RPL28, MRPS12, RPS5, RPS9, RPS11, RPS15, RPS16, RPS19, RPS28, RRAS, RTN2, RYR1, SAFB, CLEC11A, SCN1B, CCL25, SELENOW, SGTA, SH3GL1, SLC1A5, SLC1A6, SLC5A5, SLC8A2, SMARCA4, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPIB, STK11, AURKC, STXBP2, SULT2B1, SULT2A1, SUPT5H, SYT5, TBXA2R, TCF3, PRDX2, TGFB1, THOP1, ICAM5, TLE2, TNNI3, TNNT1, TPM4, TRU-TCA1-1, TULP2, TYK2, TYROBP, UBA52, NR1H2, UQCRFS1, USF2, VASP, VAV1, XRCC1, ZFP36, ZNF8, ZNF14, ZNF708, ZNF17, ZNF20, ZNF28, ZNF43, ZNF45, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF146, ZNF154, ZNF155, ZNF175, ZNF177, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, MADCAM1, SF3A2, ELL, SYMPK, MIA, CLPP, DPF1, LTBP4, TEAD2, RANBP3, CYP4F2, PPFIA3, KHSRP, PLA2G4C, PLPP2, RFXANK, EIF3G, STX10, S1PR4, URI1, TNFSF14, TNFSF9, NAPA, SIGLEC5, FCGBP, AP1M1, AP3D1, PGLYRP1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, RAB11B, CRLF1, NUMBL, CYTH2, S1PR2, ZNF235, TRIP10, LONP1, ZNF264, KCNK6, NCR1, MED26, HOMER3, IL27RA, NAPSA, GDF15, TECR, ZNF254, GMFG, RAB3D, APBA3, IER2, KLK4, SAFB2, ZNF432, DHX34, KIAA0355, ZNF536, KMT2B, KEAP1, MED16, CHAF1A, SH2D3A, AP1M2, UBA2, SAE1, SUGP2, EBI3, ZNF256, DDX39A, ZNF443, PLIN3, AKAP8, FSTL3, LILRB2, APC2, PAK4, B3GNT3, CLEC4M, ABCA7, HMG20B, KLF2, TUBB4A, TMEM147, IFI30, TOMM40, TIMM44, CARM1, SEMA6B, ZNF211, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, ZNF266, ZNF274, ZNF460, PPP1R13L, CD3EAP, RUVBL2, LILRB1, HCST, PNPLA6, KDELR1, UQCR11, LILRB5, ILVBL, LILRB4, KLK11, TMED1, LILRA1, LILRB3, LILRA3, LILRA2, UPK1A, HNRNPUL1, CLASRP, KPTN, SLC7A9, CDC37, MAP4K1, KLK8, CYP4F8, PNKP, COPE, U2AF2, ATF5, ZFP30, ZNF507, ADGRL1, PPP6R1, CARD8, SBNO2, SIRT2, MAST1, UNC13A, KDM4B, MAST3, SIPA1L3, FCHO1, CIC, ZC3H4, ZFR2, SIN3B, HAUS5, ARHGEF18, CRTC1, MAU2, PIP5K1C, FBXO46, ETHE1, BRD4, RPL13A, ARHGAP45, SYNGR4, LILRA4, PRG1, CASP14, ZIM2, CBLC, NUP62, HSPBP1, PPP1R15A, PLD3, FKBP8, EML2, SHC2, TMEM59L, PGLS, LSM4, KLK5, ZNF345, PRKD2, RPL36, ZNF473, KANK2, CLIP3, FAM32A, LSM14A, KLK13, CCDC9, PRPF31, IRF2BP1, FGF21, GAPDHS, OR7A17, TIMM13, TSPAN16, DAZAP1, OR10H3, OR10H2, OR10H1, OR7E24, OR7C2, OR7A5, OR7C1, ZNF285, AKAP8L, FGF22, ZBTB32, SIGLEC7, LYPD3, ARRDC2, BBC3, DKKL1, TJP3, CPAMD8, SIGLEC9, SIGLEC8, C5AR2, NMRK2, DHDH, ZNF544, EIF3K, UBE2S, SLC6A16, C19orf53, BABAM1, LGALS13, UHRF1, CYP2S1, TFPT, STRN4, CCDC106, HOOK2, EPN1, SERTAD3, SERTAD1, SLC39A3, NOP53, BICRA, TNPO2, ADGRE2, CD209, EHD2, KLK14, KLK12, COL5A3, RDH8, SHANK1, NOSIP, MRPL4, NDUFA13, ANGPTL4, ZNF580, HSD17B14, GP6, VRK3, MARCH2, ZNF571, GMIP, CD320, ECSIT, THEG, ZBTB7A, FZR1, WDR83OS, ISYNA1, ZNF581, SIRT6, PIAS4, LSR, LSM7, ZNF44, TM6SF2, MBD3, PTOV1, S1PR5, FXYD7, FXYD5, RAB4B, MIER2, DDX49, PAF1, PCSK4, PPP1R12C, TRPM4, ZNF586, ZNF562, QPCTL, GATAD2A, BEST2, FBXL12, FAM83E, PGPEP1, CC2D1A, EPS8L1, RASIP1, TMEM161A, SARS2, TMEM160, C19orf24, PIH1D1, REX1BD, GPATCH1, SAMD4B, DMAC2, PLEKHJ1, C19orf73, MAP1S, PNMA8A, TMEM143, KLHL26, ZNF444, C19orf66, ZNF331, FEM1A, ZNF823, KLK15, MED29, STAP2, TRMT1, BTBD2, NLRP2, RNF126, ZNF416, YJU2, ASF1B, ZNF701, ZNF83, ZNF415, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, MYDGF, SMG9, ZNF253, IRGC, SLC7A10, PPAN, CABP5, RETN, SPHK2, LGALS14, EXOSC5, MEIS3, NCLN, GPR108, SPPL2B, DUS3L, XAB2, SHD, CEACAM19, SLC17A7, NAT14, CD177, ATP13A1, RGL3, SLC44A2, VN1R1, MCOLN1, RCN3, ZNF304, TTYH1, WDR18, REXO1, PNMA8B, ZNF490, PRR12, DOCK6, ZNF471, ZNF492, TSHZ3, LRFN1, GRAMD1A, CAMSAP3, USP29, PLEKHA4, ZFP14, ZNF317, ZNF529, PRX, ANO8, SPTBN4, MARK4, SUGP1, HAMP, CATSPERG, CYP4F11, ZNF71, ZNF77, SCAF1, CACTIN, PRODH2, EPS15L1, WIZ, CACNG8, CACNG7, CACNG6, UBL5, ZNF350, TSKS, CELF5, ZNF667, DMRTC2, C19orf33, ELSPBP1, LIN7B, HIF3A, CHST8, ZNF574, PLEKHG2, RASAL3, MRPL34, KRI1, ZSWIM4, ZNF649, ZSCAN18, CYP4F12, YIPF2, TRIR, DDA1, KXD1, TMEM38A, TSEN34, KCTD15, SLC25A23, SMIM7, ZNF426, TRAPPC6A, MBOAT7, FKRP, ZSCAN5A, PLEKHF1, LENG1, LILRA6, RBM42, C19orf57, ZNF576, FSD1, ZNF557, LRFN3, ABHD8, CERS4, OCEL1, ZNF329, COLGALT1, IGFLR1, TBC1D17, ZNF419, GEMIN7, ISOC2, MYH14, ZNF665, TLE6, ZNF552, EPHX3, PODNL1, ZNF671, ZNF613, COQ8B, CNTD2, SLC35E1, PLPPR3, DENND1C, ZNF442, ZNF556, ZNF606, ZNF614, LRRC8E, FUZ, OPA3, ZNF430, ITPKC, UBXN6, PBX4, IQCN, B9D2, RSPH6A, CCDC130, ACSBG2, ADAMTS10, ZNF611, MED25, QTRT1, ABHD17A, ZNF93, DOHH, PLVAP, RTBDN, BCL2L12, C19orf12, TEX101, GRWD1, ANGPTL6, KLF16, USHBP1, WDR87, TSSK6, CCDC8, KIRREL2, ANKRD27, PRAM1, C19orf44, ZNF541, MRI1, SYT3, FBXW9, ALKBH7, WDR83, PDCD2L, ZNF414, AKT1S1, ELOF1, ZNF528, DOT1L, BRSK1, ZNF333, FBN3, ZNF527, CNFN, ZNF559, KISS1R, ADGRE3, ZNF347, CREB3L3, GTPBP3, ZNF577, MPV17L2, ZNF607, KMT5C, C19orf48, NFKBID, LMNB2, RAX2, CEP89, ZNF382, ZNF587, FIZ1, ZNF566, PWWP3A, HSH2D, MPND, ALKBH6, ATG4D, ATCAY, SYDE1, RHPN2, MBD3L1, GALP, SIGLEC10, SIGLEC12, ZNF628, MIDN, ZNF30, ZNF551, CEACAM21, ZNF616, ZNF766, CCDC97, EXOC3L2, ZNF468, ZNF160, CTU1, SAMD1, DCAF15, GADD45GIP1, ZNF835, YIF1B, ZNF799, TIMM29, ZNF625, ZNF700, ZNF439, ZNF486, DPP9, ZNF682, R3HDM4, TMEM259, FAAP24, TDRD12, ZNF765, NLRP12, MYADM, ZNF845, TPGS1, ZNF461, ZNF585B, CRB3, TIMM50, SHKBP1, REEP6, PEX11G, DMKN, ZNF561, OLFM2, CCDC114, HAUS8, MVB12A, ARMC6, ACP4, CGB5, MUC16, CGB7, LRRC4B, ZNF101, LENG9, CGB8, GNG8, PPP1R14A, EGLN2, BIRC8, FAM71E1, RDH13, FDX2, NACC1, PTH2, IZUMO4, SCAMP4, ADAT3, ZNF257, ZIM3, SIGLEC11, CGB1, CGB2, PGLYRP2, LMTK3, LENG8, CCDC124, ZNF554, FBXO17, KIR3DL3, ARHGAP33, EVI5L, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, ZNF837, GRIN3B, MRPL54, LRG1, CIB3, RLN3, CLDND2, ZNF816, ZNF543, CEACAM20, RAVER1, OR7D4, OR7G1, OR1M1, COX6B2, CALR3, ACER1, C19orf70, MBD3L2, TRAPPC5, PCP2, OSCAR, ZNF813, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, JOSD2, IZUMO2, CPT1C, ALDH16A1, NTN5, NLRP13, NLRP8, NLRP5, ZNF787, ZNF573, WDR88, TMIGD2, EID2B, TNFAIP8L1, IRGQ, ZNF428, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, MISP, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, PLK5, C19orf47, OR10H4, ANKLE1, C2CD4C, ZNF358, ZFP28, VSIG10L, ZNF480, ZNF534, ZNF578, ERVV-1, SMIM17, C19orf18, ZNF418, ZNF417, ZNF548, PPM1N, KLC3, IGSF23, LYPD4, ZNF560, TMEM190, HIPK4, TMC4, ZNF524, ZNF784, ZNF563, SPC24, CCDC155, DACT3, SIX5, IGFL2, ZNF420, ZNF565, NLRP4, ZNF582, ZNF583, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, TICAM1, ZNRF4, ZNF599, FAM187B, CILP2, PROSER3, ZNF558, CDC42EP5, ZNF98, ZNF714, ZNF681, C19orf25, ATP8B3, DIRAS1, ZNF555, ZNF569, ZNF570, ZNF836, ZNF610, ZNF600, ZNF320, ZNF497, ZNF550, ZNF296, DEDD2, ZNF846, OR7D2, ZNF579, ZNF791, ZNF564, ZNF709, ZNF433, ZNF114, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, PRR22, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ANKRD24, SPACA4, ZNF675, MCEMP1, ZNF627, DAND5, ZNF585A, NLRP7, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, ADM5, ZNF584, ZSCAN4, NLRP11, TMEM86B, CBARP, INAFM1, C19orf38, ZNF549, SYCE2, KANK3, TINCR, CATSPERD, IL4I1, IFNL2, IFNL3, IFNL1, SSC5D, ZNF547, ZIK1, ZNF776, ZSCAN1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, ZNF575, LYPD5, ZNF283, PPP1R37, NKPD1, TPRX1, MAMSTR, IZUMO1, EMC10, KLK9, SIGLECL1, ZNF615, ZNF841, ACTL9, OR2Z1, ZNF763, ZNF844, SCGB2B2, WDR62, ZFP82, VSTM1, TMEM150B, FAM71E2, SMIM24, SLC25A41, MBD3L5, OR10H5, NWD1, SLC25A42, ZNF493, ODF3L2, HKR1, VN1R2, VN1R4, NLRP9, ZNF181, ZNF260, ZNF546, MYPOP, NANOS2, ADAMTSL5, CLEC4G, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, C19orf81, ZNF677, RFPL4A, ZSCAN5B, ZSCAN22, NANOS3, PALM3, SELENOV, ZNF530, DNAAF3, ZNF429, ZNF233, LILRA5, TMPRSS9, NDUFS7, PEAK3, HSD11B1L, TEX45, ZNF699, TMEM205, YJEFN3, SBSN, ZNF829, ZNF568, B3GNT8, IGFL1, ZSWIM9, ZNF773, SLC27A1, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, CEACAM16, BLOC1S3, IGFL3, ZNF808, ZNF888, ZNF761, TMEM238, ZNF470, ZNF749, ONECUT3, OR7G2, OR7G3, OR7A10, NUDT19, ZNF793, ACP7, PINLYP, ZNF805, SPRED3, MEX3D, PRSS57, VMAC, LOC400706, ZNF880, ZNF772, IGLON5, HAPLN4, CTXN1, MIRLET7E, MIR125A, MIR150, MIR181C, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR99B, PLIN5, ZNF506, PSG8, TARM1, MIR371A, MIR372, MIR373, IGFL4, DPRX, DUXA, ASPDH, MIR519D, MIR520H, TMEM91, SDHAF1, LINGO3, ARRDC5, C19orf67, SBK2, UCA1, LGALS7B, PHLDB3, MBD3L4, MBD3L3, PPAN-P2RY11, OVOL3, PLIN4, CCDC61, ZNF878, CEACAM18, SHISA7, RFPL4AL1, BORCS8, ZNF814, ZNF726, SIGLEC14, ZGLP1, C19orf71, ZNF730, ZNF737, TMEM221, BSPH1, PET100, SRRM5, ERICH4, ERVV-2, MEF2B, ZNF729, ZNF587B, MIR1909, PPP5D1, ZNF865, LOC100507551, TGFBR3L, LOC100507646, ERVK3-1, ZNF559-ZNF177, ZNF816-ZNF321P, PTOV1-AS2, ZIM2-AS1
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
41.
GRCh37:
Chr19:260912-58956888
A1BG, ACP5, ACTN4, AP2A1, AES, AKT2, AMH, APLP1, APOC1, APOC2, APOC4, APOE, KLK3, ASNA1, ATP1A3, ATP4A, ATP5F1D, AXL, AZU1, BAX, BCAT2, BCKDHA, BCL3, HCN2, CEACAM1, BLVRB, BSG, BST2, C3, C5AR1, CA11, CACNA1A, CALM3, CALR, CAPNS1, CAPS, CCNE1, CD22, CD33, SIGLEC6, CD37, CD70, CD79A, ADGRE5, CDC34, CDKN2D, CEACAM5, CEBPA, CEBPG, CGB3, CEACAM3, CEACAM7, CEACAM8, CEACAM4, CIRBP, TBCB, CKM, AP2S1, CLC, CLPTM1, CNN1, CNN2, COMP, COX6B1, COX7A1, CRX, CSNK1G2, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DAPK3, DBP, CFD, DHPS, DMPK, DMWD, DNASE2, DNM2, DNMT1, ARID3A, ECH1, EEF2, EFNA2, MEGF8, ELANE, ELAVL1, ELAVL3, EMP3, ADGRE1, EPOR, NR2F6, ERCC1, ERCC2, ERF, FBL, ETFB, ETV2, FARSA, FCAR, FCER2, FCGRT, FLT3LG, FOSB, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, GAMT, GCDH, GDF1, GIPR, GNA11, GNA15, GNG7, GPI, GPR4, GPR32, FFAR1, FFAR3, GPR42, FFAR2, MKNK2, GPX4, GRIK5, GRIN2D, ARHGAP35, GSK3A, GTF2F1, GYS1, GZMM, HAS1, FOXA3, HNRNPL, HPN, HRC, PRMT1, DNAJB1, ICAM1, ICAM3, ICAM4, IL11, IL12RB1, ILF3, INSL3, INSR, IRF3, JAK3, JUNB, JUND, KCNA7, KCNC3, KCNJ14, KCNN1, KCNN4, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KLK1, KLK2, LAIR1, LAIR2, LDLR, LGALS4, LGALS7, LHB, LIG1, LIM2, LIPE, LRP3, CYP4F3, BCAM, LYL1, MAG, MAN2B1, MATK, RAB8A, MAP3K10, MLLT1, MYO1F, MYBPC2, GADD45B, MYO9B, HNRNPM, CEACAM6, NDUFA3, NDUFA7, NDUFB7, NFIC, NFIX, NFKBIB, NKG7, CNOT3, NOTCH3, NOVA2, NPAS1, NPHS1, NRTN, NTF4, NUCB1, OAZ1, P2RY11, PAFAH1B3, PALM, PDE4A, PDE4C, PEG3, PEPD, PIK3R2, PIN1, PLAUR, FXYD1, FXYD3, POLD1, POLR2E, POLR2I, POLRMT, POU2F2, PPP2R1A, PPP5C, PRKACA, PRKCG, PKN1, PRKCSH, MAP2K2, MAP2K7, PSPN, PRRG2, KLK7, KLK6, KLK10, PRTN3, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, NECTIN2, RAB3A, RAD23A, RELB, UPF1, RFX1, RFX2, RPL18, RPL18A, RPL28, MRPS12, RPS5, RPS9, RPS11, RPS15, RPS16, RPS19, RPS28, RRAS, RTN2, RYR1, SAFB, CLEC11A, SCN1B, CCL25, SELENOW, SGTA, SH3GL1, SLC1A5, SLC1A6, SLC5A5, SLC8A2, SMARCA4, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPIB, STK11, AURKC, STXBP2, SULT2B1, SULT2A1, SUPT5H, SYT5, TBXA2R, TCF3, PRDX2, TGFB1, THOP1, ICAM5, TLE2, TNNI3, TNNT1, TPM4, TRU-TCA1-1, TULP2, TYK2, TYROBP, UBA52, NR1H2, UQCRFS1, USF2, VASP, VAV1, XRCC1, ZFP36, ZNF8, ZNF14, ZNF708, ZNF17, ZNF20, ZNF28, ZNF43, ZNF45, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF146, ZNF154, ZNF155, ZNF175, ZNF177, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, MADCAM1, SF3A2, ELL, SYMPK, MIA, CLPP, DPF1, LTBP4, TEAD2, RANBP3, CYP4F2, PPFIA3, KHSRP, PLA2G4C, PLPP2, RFXANK, EIF3G, STX10, S1PR4, URI1, TNFSF14, TNFSF9, NAPA, SIGLEC5, FCGBP, AP1M1, AP3D1, PGLYRP1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, RAB11B, CRLF1, NUMBL, CYTH2, S1PR2, ZNF235, TRIP10, LONP1, ZNF264, KCNK6, NCR1, MED26, HOMER3, IL27RA, NAPSA, GDF15, TECR, ZNF254, GMFG, RAB3D, APBA3, IER2, KLK4, SAFB2, ZNF432, DHX34, KIAA0355, ZNF536, KMT2B, KEAP1, MED16, CHAF1A, SH2D3A, AP1M2, UBA2, SAE1, SUGP2, EBI3, ZNF256, DDX39A, ZNF443, PLIN3, AKAP8, FSTL3, LILRB2, APC2, PAK4, B3GNT3, CLEC4M, ABCA7, HMG20B, KLF2, TUBB4A, TMEM147, IFI30, TOMM40, TIMM44, CARM1, SEMA6B, ZNF211, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, ZNF266, ZNF274, ZNF460, PPP1R13L, CD3EAP, RUVBL2, LILRB1, HCST, PNPLA6, KDELR1, UQCR11, LILRB5, ILVBL, LILRB4, KLK11, TMED1, LILRA1, LILRB3, LILRA3, LILRA2, UPK1A, HNRNPUL1, CLASRP, KPTN, SLC7A9, CDC37, MAP4K1, KLK8, CYP4F8, PNKP, COPE, U2AF2, ATF5, ZFP30, ZNF507, ADGRL1, PPP6R1, CARD8, SBNO2, SIRT2, MAST1, UNC13A, KDM4B, MAST3, SIPA1L3, FCHO1, CIC, ZC3H4, ZFR2, SIN3B, HAUS5, ARHGEF18, CRTC1, MAU2, PIP5K1C, FBXO46, ETHE1, BRD4, RPL13A, ARHGAP45, SYNGR4, LILRA4, PRG1, CASP14, ZIM2, CBLC, NUP62, HSPBP1, PPP1R15A, PLD3, FKBP8, EML2, SHC2, TMEM59L, PGLS, LSM4, KLK5, ZNF345, PRKD2, RPL36, ZNF473, KANK2, CLIP3, FAM32A, LSM14A, KLK13, CCDC9, PRPF31, IRF2BP1, FGF21, GAPDHS, OR7A17, TIMM13, TSPAN16, DAZAP1, OR10H3, OR10H2, OR10H1, OR7E24, OR7C2, OR7A5, OR7C1, ZNF285, AKAP8L, FGF22, ZBTB32, SIGLEC7, LYPD3, ARRDC2, BBC3, DKKL1, TJP3, CPAMD8, SIGLEC9, SIGLEC8, C5AR2, NMRK2, DHDH, ZNF544, EIF3K, UBE2S, SLC6A16, C19orf53, BABAM1, LGALS13, UHRF1, CYP2S1, TFPT, STRN4, CCDC106, HOOK2, EPN1, SERTAD3, SERTAD1, SLC39A3, NOP53, BICRA, TNPO2, ADGRE2, CD209, EHD2, KLK14, KLK12, COL5A3, RDH8, SHANK1, NOSIP, MRPL4, NDUFA13, ANGPTL4, ZNF580, HSD17B14, GP6, VRK3, MARCH2, ZNF571, GMIP, CD320, ECSIT, THEG, ZBTB7A, FZR1, WDR83OS, ISYNA1, ZNF581, SIRT6, PIAS4, LSR, LSM7, ZNF44, TM6SF2, MBD3, PTOV1, S1PR5, FXYD7, FXYD5, RAB4B, MIER2, DDX49, PAF1, PCSK4, PPP1R12C, TRPM4, ZNF586, ZNF562, QPCTL, GATAD2A, BEST2, FBXL12, FAM83E, PGPEP1, CC2D1A, EPS8L1, RASIP1, TMEM161A, SARS2, TMEM160, C19orf24, PIH1D1, REX1BD, GPATCH1, SAMD4B, DMAC2, PLEKHJ1, C19orf73, MAP1S, PNMA8A, TMEM143, KLHL26, ZNF444, C19orf66, ZNF331, FEM1A, ZNF823, KLK15, MED29, STAP2, TRMT1, BTBD2, NLRP2, RNF126, ZNF416, YJU2, ASF1B, ZNF701, ZNF83, ZNF415, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, MYDGF, SMG9, ZNF253, IRGC, SLC7A10, PPAN, CABP5, RETN, SPHK2, LGALS14, EXOSC5, MEIS3, NCLN, GPR108, SPPL2B, DUS3L, XAB2, SHD, CEACAM19, SLC17A7, NAT14, CD177, ATP13A1, RGL3, SLC44A2, VN1R1, MCOLN1, RCN3, ZNF304, TTYH1, WDR18, REXO1, PNMA8B, ZNF490, PRR12, DOCK6, ZNF471, ZNF492, TSHZ3, LRFN1, GRAMD1A, CAMSAP3, USP29, PLEKHA4, ZFP14, ZNF317, ZNF529, PRX, ANO8, SPTBN4, MARK4, SUGP1, HAMP, CATSPERG, CYP4F11, ZNF71, ZNF77, SCAF1, CACTIN, PRODH2, EPS15L1, WIZ, CACNG8, CACNG7, CACNG6, UBL5, ZNF350, TSKS, CELF5, ZNF667, DMRTC2, C19orf33, ELSPBP1, LIN7B, HIF3A, CHST8, ZNF574, PLEKHG2, RASAL3, MRPL34, KRI1, ZSWIM4, ZNF649, ZSCAN18, CYP4F12, YIPF2, TRIR, DDA1, KXD1, TMEM38A, TSEN34, KCTD15, SLC25A23, SMIM7, ZNF426, TRAPPC6A, MBOAT7, FKRP, ZSCAN5A, PLEKHF1, LENG1, LILRA6, RBM42, C19orf57, ZNF576, FSD1, ZNF557, LRFN3, ABHD8, CERS4, OCEL1, ZNF329, COLGALT1, IGFLR1, TBC1D17, ZNF419, GEMIN7, ISOC2, MYH14, ZNF665, TLE6, ZNF552, EPHX3, PODNL1, ZNF671, ZNF613, COQ8B, CNTD2, SLC35E1, PLPPR3, DENND1C, ZNF442, ZNF556, ZNF606, ZNF614, LRRC8E, FUZ, OPA3, ZNF430, ITPKC, UBXN6, PBX4, IQCN, B9D2, RSPH6A, CCDC130, ACSBG2, ADAMTS10, ZNF611, MED25, QTRT1, ABHD17A, ZNF93, DOHH, PLVAP, RTBDN, BCL2L12, C19orf12, TEX101, GRWD1, ANGPTL6, KLF16, USHBP1, WDR87, TSSK6, CCDC8, KIRREL2, ANKRD27, PRAM1, C19orf44, ZNF541, MRI1, SYT3, FBXW9, ALKBH7, WDR83, PDCD2L, ZNF414, AKT1S1, ELOF1, ZNF528, DOT1L, BRSK1, ZNF333, FBN3, ZNF527, CNFN, ZNF559, KISS1R, ADGRE3, ZNF347, CREB3L3, GTPBP3, ZNF577, MPV17L2, ZNF607, KMT5C, C19orf48, NFKBID, LMNB2, RAX2, CEP89, ZNF382, ZNF587, FIZ1, ZNF566, PWWP3A, HSH2D, MPND, ALKBH6, ATG4D, ATCAY, SYDE1, RHPN2, MBD3L1, GALP, SIGLEC10, SIGLEC12, ZNF628, MIDN, ZNF30, ZNF551, CEACAM21, ZNF616, ZNF766, CCDC97, EXOC3L2, ZNF468, ZNF160, CTU1, SAMD1, DCAF15, GADD45GIP1, ZNF835, YIF1B, ZNF799, TIMM29, ZNF625, ZNF700, ZNF439, ZNF486, DPP9, ZNF682, R3HDM4, TMEM259, FAAP24, TDRD12, ZNF765, NLRP12, MYADM, ZNF845, TPGS1, ZNF461, ZNF585B, CRB3, TIMM50, SHKBP1, REEP6, PEX11G, DMKN, ZNF561, OLFM2, CCDC114, HAUS8, MVB12A, ARMC6, ACP4, CGB5, MUC16, CGB7, LRRC4B, ZNF101, LENG9, CGB8, GNG8, PPP1R14A, EGLN2, BIRC8, FAM71E1, RDH13, FDX2, NACC1, PTH2, IZUMO4, SCAMP4, ADAT3, ZNF257, ZIM3, SIGLEC11, CGB1, CGB2, PGLYRP2, LMTK3, LENG8, CCDC124, ZNF554, FBXO17, KIR3DL3, ARHGAP33, EVI5L, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, ZNF837, GRIN3B, MRPL54, LRG1, CIB3, RLN3, CLDND2, ZNF816, ZNF543, CEACAM20, RAVER1, OR7D4, OR7G1, OR1M1, COX6B2, CALR3, ACER1, C19orf70, MBD3L2, TRAPPC5, PCP2, OSCAR, ZNF813, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, JOSD2, IZUMO2, CPT1C, ALDH16A1, NTN5, NLRP13, NLRP8, NLRP5, ZNF787, ZNF573, WDR88, TMIGD2, EID2B, TNFAIP8L1, IRGQ, ZNF428, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, MISP, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, PLK5, C19orf47, OR10H4, ANKLE1, C2CD4C, ZNF358, ZFP28, VSIG10L, ZNF480, ZNF534, ZNF578, ERVV-1, SMIM17, C19orf18, ZNF418, ZNF417, ZNF548, PPM1N, KLC3, IGSF23, LYPD4, ZNF560, TMEM190, HIPK4, TMC4, ZNF524, ZNF784, ZNF563, SPC24, CCDC155, DACT3, SIX5, IGFL2, ZNF420, ZNF565, NLRP4, ZNF582, ZNF583, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, TICAM1, ZNRF4, ZNF599, FAM187B, CILP2, PROSER3, ZNF558, CDC42EP5, ZNF98, ZNF714, ZNF681, C19orf25, ATP8B3, DIRAS1, ZNF555, ZNF569, ZNF570, ZNF836, ZNF610, ZNF600, ZNF320, ZNF497, ZNF550, ZNF296, DEDD2, ZNF846, OR7D2, ZNF579, ZNF791, ZNF564, ZNF709, ZNF433, ZNF114, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, PRR22, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ANKRD24, SPACA4, ZNF675, MCEMP1, ZNF627, DAND5, ZNF585A, NLRP7, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, ADM5, ZNF584, ZSCAN4, NLRP11, TMEM86B, CBARP, INAFM1, C19orf38, ZNF549, SYCE2, KANK3, TINCR, CATSPERD, IL4I1, IFNL2, IFNL3, IFNL1, SSC5D, ZNF547, ZIK1, ZNF776, ZSCAN1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, ZNF575, LYPD5, ZNF283, PPP1R37, NKPD1, TPRX1, MAMSTR, IZUMO1, EMC10, KLK9, SIGLECL1, ZNF615, ZNF841, ACTL9, OR2Z1, ZNF763, ZNF844, SCGB2B2, WDR62, ZFP82, VSTM1, TMEM150B, FAM71E2, SMIM24, SLC25A41, MBD3L5, OR10H5, NWD1, SLC25A42, ZNF493, ODF3L2, HKR1, VN1R2, VN1R4, NLRP9, ZNF181, ZNF260, ZNF546, MYPOP, NANOS2, ADAMTSL5, CLEC4G, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, C19orf81, ZNF677, RFPL4A, ZSCAN5B, ZSCAN22, NANOS3, PALM3, SELENOV, ZNF530, DNAAF3, ZNF429, ZNF233, LILRA5, TMPRSS9, NDUFS7, PEAK3, HSD11B1L, TEX45, ZNF699, TMEM205, YJEFN3, SBSN, ZNF829, ZNF568, B3GNT8, IGFL1, ZSWIM9, ZNF773, SLC27A1, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, CEACAM16, BLOC1S3, IGFL3, ZNF808, ZNF888, ZNF761, TMEM238, ZNF470, ZNF749, ONECUT3, OR7G2, OR7G3, OR7A10, NUDT19, ZNF793, ACP7, PINLYP, ZNF805, SPRED3, MEX3D, PRSS57, VMAC, LOC400706, ZNF880, ZNF772, IGLON5, HAPLN4, CTXN1, MIRLET7E, MIR125A, MIR150, MIR181C, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR99B, PLIN5, ZNF506, PSG8, TARM1, MIR371A, MIR372, MIR373, IGFL4, DPRX, DUXA, ASPDH, MIR519D, MIR520H, TMEM91, SDHAF1, LINGO3, ARRDC5, C19orf67, SBK2, UCA1, LGALS7B, PHLDB3, MBD3L4, MBD3L3, PPAN-P2RY11, OVOL3, PLIN4, CCDC61, ZNF878, CEACAM18, SHISA7, RFPL4AL1, BORCS8, ZNF814, ZNF726, SIGLEC14, ZGLP1, C19orf71, ZNF730, ZNF737, TMEM221, BSPH1, PET100, SRRM5, ERICH4, ERVV-2, MEF2B, ZNF729, ZNF587B, MIR1909, PPP5D1, ZNF865, LOC100507551, TGFBR3L, LOC100507646, ERVK3-1, ZNF559-ZNF177, ZNF816-ZNF321P, PTOV1-AS2, ZIM2-AS1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
42.
GRCh37:
Chr19:44300416-45639540
See casesUncertain significance
(Feb 16, 2015)
no assertion criteria provided
43.
GRCh37:
Chr19:45284576-45978239
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr19:43013365-47241534
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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