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Items: 32

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (NIJMEGEN)Pathogenic
(Dec 5, 1988)
no assertion criteria provided
2.
APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (HAMBURG)Pathogenic
(Feb 1, 1992)
no assertion criteria provided
3.
APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (TORONTO)Pathogenic
(Oct 1, 1988)
no assertion criteria provided
4.
APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (ST. MICHAEL)Pathogenic
(Dec 1, 1987)
no assertion criteria provided
5.
GRCh37:
Chr19:45449284
GRCh38:
Chr19:44946027
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr19:45449301
GRCh38:
Chr19:44946044
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr19:45451734
GRCh38:
Chr19:44948477
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:45451736
GRCh38:
Chr19:44948479
APOC2, APOC4-APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (PARIS)Pathogenic
(Dec 15, 1989)
no assertion criteria provided
9.
GRCh37:
Chr19:45452004
GRCh38:
Chr19:44948747
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr19:45452024
GRCh38:
Chr19:44948767
APOC2, APOC4-APOC2Apolipoprotein c-ii variantPathogenic
(Mar 1, 1991)
no assertion criteria provided
11.
GRCh37:
Chr19:45452044
GRCh38:
Chr19:44948787
APOC2, APOC4-APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (WAKAYAMA)Pathogenic
(Jun 30, 1993)
no assertion criteria provided
12.
GRCh37:
Chr19:45452079
GRCh38:
Chr19:44948822
APOC2, APOC4-APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (BARI)Pathogenic
(Aug 1, 1994)
no assertion criteria provided
13.
GRCh37:
Chr19:45452079
GRCh38:
Chr19:44948822
APOC2, APOC4-APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (PADOVA)Pathogenic
(Aug 1, 1994)
no assertion criteria provided
14.
GRCh37:
Chr19:45452080
GRCh38:
Chr19:44948823
APOC2, APOC4-APOC2APOLIPOPROTEIN C-II (SAN FRANCISCO)Pathogenic
(Jan 1, 1993)
no assertion criteria provided
15.
GRCh37:
Chr19:45452098-45452099
GRCh38:
Chr19:44948841-44948842
APOC2, APOC4-APOC2not providedPathogenic
(Dec 4, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr19:45452429
GRCh38:
Chr19:44949172
APOC2, APOC4-APOC2APOLIPOPROTEIN C-II (AFRICAN)Pathogenic
(Feb 1, 1986)
no assertion criteria provided
17.
GRCh37:
Chr19:45452455
GRCh38:
Chr19:44949198
APOC2, APOC4-APOC2Apolipoprotein C2 deficiency, APOLIPOPROTEIN C-II (AUCKLAND)Pathogenic
(Jun 1, 2003)
no assertion criteria provided
18.
GRCh37:
Chr19:45452501
GRCh38:
Chr19:44949244
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr19:45452530
GRCh38:
Chr19:44949273
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr19:45452596
GRCh38:
Chr19:44949339
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr19:45452622
GRCh38:
Chr19:44949365
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr19:45452680
GRCh38:
Chr19:44949423
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr19:45452694-45452695
GRCh38:
Chr19:44949437-44949438
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr19:45452709
GRCh38:
Chr19:44949452
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr19:45452742
GRCh38:
Chr19:44949485
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr19:45452812
GRCh38:
Chr19:44949555
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr19:45452814
GRCh38:
Chr19:44949557
APOC2, APOC4-APOC2Apolipoprotein C2 deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
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, MUM1, 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
29.
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, MUM1, 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
30.
GRCh37:
Chr19:44300416-45639540
See casesUncertain significance
(Feb 16, 2015)
no assertion criteria provided
31.
GRCh37:
Chr19:45284576-45978239
See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr19:43013365-47241534
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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