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Items: 19

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:10334532
GRCh38:
Chr19:10223856
S1PR2not specifiedBenign
(Jan 8, 2018)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr19:10334663
GRCh38:
Chr19:10223987
S1PR2not specifiedBenign
(Aug 23, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr19:10334679
GRCh38:
Chr19:10224003
S1PR2not specifiedLikely benign
(Dec 5, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr19:10334704
GRCh38:
Chr19:10224028
S1PR2not specifiedUncertain significance
(Dec 5, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr19:10334725
GRCh38:
Chr19:10224049
S1PR2not specifiedBenign
(Aug 23, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr19:10334910
GRCh38:
Chr19:10224234
S1PR2not specifiedBenign
(Aug 23, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr19:10334940
GRCh38:
Chr19:10224264
S1PR2not specifiedBenign
(Feb 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr19:10335106
GRCh38:
Chr19:10224430
S1PR2Inborn genetic diseasesUncertain significance
(Sep 26, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr19:10335163
GRCh38:
Chr19:10224487
S1PR2Deafness, autosomal recessive 68Pathogenic
(Oct 19, 2017)
no assertion criteria provided
10.
GRCh37:
Chr19:10335259
GRCh38:
Chr19:10224583
S1PR2Deafness, autosomal recessive 68Pathogenic
(Oct 19, 2017)
no assertion criteria provided
11.
GRCh37:
Chr19:10335333
GRCh38:
Chr19:10224657
S1PR2not specifiedBenign
(Aug 23, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr19:10335552
GRCh38:
Chr19:10224876
S1PR2not specifiedLikely benign
(Feb 8, 2018)
criteria provided, single submitter
13.
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
14.
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
15.
GRCh37:
Chr19:9678768-14853426
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
16.
GRCh37:
Chr19:10286133-11040457
See casesPathogenicno assertion criteria provided
17.
GRCh37:
Chr19:10267082-11000364
GRCh38:
Chr19:10156406-10889688
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
18.
GRCh37:
Chr19:9846119-11338677
GRCh38:
Chr19:9735443-11228001
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
19.
GRCh37:
Chr19:8941823-13442041
GRCh38:
Chr19:8831147-13331227
See casesLikely pathogenic
(May 6, 2011)
no assertion criteria provided
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