| - GRCh37:
- Chr3:97498355-97583359
| ARL6, CRYBG3 | Bardet-Biedl syndrome | Likely pathogenic (Jul 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:97508904-97513012
| ARL6 | Bardet-Biedl syndrome | Likely pathogenic (Jul 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:97483609
- GRCh38:
- Chr3:97764765
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97483642
- GRCh38:
- Chr3:97764798
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97483703
- GRCh38:
- Chr3:97764859
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97483712
- GRCh38:
- Chr3:97764868
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97483778
- GRCh38:
- Chr3:97764934
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97485464
- GRCh38:
- Chr3:97766620
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97487043
- GRCh38:
- Chr3:97768199
| ARL6 | Bardet-Biedl syndrome 3 | Pathogenic (Sep 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:97487043
- GRCh38:
- Chr3:97768199
| ARL6 | Bardet-Biedl syndrome 3 | Pathogenic (Sep 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:97499441
- GRCh38:
- Chr3:97780597
| ARL6 | not specified | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr3:97503750
- GRCh38:
- Chr3:97784906
| ARL6 | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr3:97503810
- GRCh38:
- Chr3:97784966
| ARL6 | Retinitis pigmentosa 55 | Pathogenic (Apr 15, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr3:97503816
- GRCh38:
- Chr3:97784972
| ARL6 | Bardet-Biedl syndrome | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:97503825
- GRCh38:
- Chr3:97784981
| ARL6 | Retinitis pigmentosa | Likely pathogenic (Jan 1, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:97503929
- GRCh38:
- Chr3:97785085
| ARL6 | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr3:97506835-97506837
- GRCh38:
- Chr3:97787991-97787993
| ARL6 | Bardet-Biedl syndrome 3 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:97506846
- GRCh38:
- Chr3:97788002
| ARL6 | not provided | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr3:97506848
- GRCh38:
- Chr3:97788004
| ARL6 | Bardet-Biedl syndrome 3 | Pathogenic (Sep 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:97510607
- GRCh38:
- Chr3:97791763
| ARL6 | Bardet-Biedl syndrome, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, not specified, Retinitis Pigmentosa, Recessive | Benign/Likely benign (Jun 7, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:97510641
- GRCh38:
- Chr3:97791797
| ARL6 | Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 1, modifier of | Pathogenic, risk factor (Sep 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:97510644
- GRCh38:
- Chr3:97791800
| ARL6 | Bardet-Biedl syndrome 3 | Pathogenic (Sep 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:97510661
- GRCh38:
- Chr3:97791817
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97510667
- GRCh38:
- Chr3:97791823
| ARL6 | not specified | Uncertain significance (Apr 27, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97516864
- GRCh38:
- Chr3:97798020
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97517118
- GRCh38:
- Chr3:97798274
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97517148
- GRCh38:
- Chr3:97798304
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97517168
- GRCh38:
- Chr3:97798324
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97517177
- GRCh38:
- Chr3:97798333
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:97517363
- GRCh38:
- Chr3:97798519
| ARL6 | Bardet-Biedl syndrome, Retinitis Pigmentosa, Recessive | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr3:96579273-98216225
| OR5K1, OR5H1, OR5H6, OR5H2, OR5AC2, ARL6, RIOX2, CRYBG3, GABRR3, EPHA6, OR5H14, OR5H15, OR5K3, OR5K4 | See cases | Uncertain significance (Dec 14, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:61892-197851986
| AADAC, ACAA1, ACPP, ACTL6A, ACVR2B, ACY1, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, AMT, APEH, APOD, ARF4, RHOA, ATP1B3, ATP2B2, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, BTD, CACNA1D, SLC25A20, CAMP, CASR, CAV3, CBLB, CCK, CD80, CD86, ENTPD3, CD47, CDC25A, CISH, AP2M1, CLCN2, CCR1, CCR3, CCR4, CCR5, CCR8, ACKR2, COL7A1, COL8A1, CP, CPA3, CPB1, CPN2, CPOX, CRYGS, CSTA, CTNNB1, CX3CR1, CYP8B1, DAG1, DGKG, DAZL, DLG1, DNASE1L3, DOCK3, DRD3, DUSP7, DVL3, ECT2, CELSR3, EHHADH, EIF4A2, EIF4G1, EPHA3, EPHB1, EPHB3, ETV5, MECOM, FANCD2, FBLN2, FGF12, FHIT, FLNB, GAP43, GATA2, GBE1, GHSR, GLB1, GNAI2, GNAT1, GOLGA4, GOLGB1, GP5, GP9, XCR1, GPR15, GPR27, GPX1, GRM2, GRM7, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRH1, HRG, HES1, HTR1F, HYAL1, IL1RAP, IL5RA, IL12A, IMPDH2, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, KNG1, KPNA1, KPNA4, LAMB2, RPSA, LPP, LSAMP, LTF, TM4SF1, MAP4, MBNL1, MCM2, MELTF, MITF, MLF1, MLH1, MME, MOBP, CD200, MST1, MST1R, MUC4, MYD88, MYL3, MYLK, NCK1, NDUFB4, NDUFB5, NKTR, OGG1, OPA1, CLDN11, OXTR, P2RY1, PAK2, CNTN3, PCCB, PCYT1A, PDHB, PFKFB4, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLCD1, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, PLXNB1, POLR2H, POU1F1, PPARG, PPP1R2, PPP2R3A, PRKAR2A, PRKCD, PRKCI, PROS1, MASP1, PSMD2, PTH1R, PTPRG, PTX3, QARS, RAB5A, RAF1, RAP2B, RARB, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, SNORA62, ROBO1, ROBO2, RPL15, RPL24, RPL29, RPL32, RPL35A, RPN1, RYK, SATB1, ATXN7, SCN5A, SCN10A, SEC13, SEMA3F, SETMAR, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC6A1, SLC6A6, SLC6A11, SLC15A2, SLCO2A1, HLTF, SMARCC1, SOX2, SSR3, SST, STAC, NEK4, SYN2, TCTA, TDGF1, TERC, TF, TFDP2, TFRC, TGM4, TGFBR2, THPO, THRB, TIMP4, TKT, SEC62, TM4SF4, TMF1, CLEC3B, TNNC1, TOP2B, NR2C2, TRH, TRPC1, UBA7, UBE2E1, UBE2E2, UBP1, UPK1B, UMPS, USP4, UQCRC1, CLRN1, VHL, VIPR1, WNT5A, WNT7A, XPC, ZIC1, CNBP, ZNF35, ZNF80, ZNF148, BRPF1, IFRD2, MAPKAPK3, SEMA3B, SLMAP, MANF, RAB7A, KCNAB1, FXR1, COLQ, ACOX2, BAP1, EOMES, HYAL3, SOX14, BFSP2, CAMK1, CGGBP1, BHLHE40, RUVBL1, CADPS, TP63, CHRD, HYAL2, B4GALT4, B3GALNT1, SNX4, TNFSF10, SUCLG2, HESX1, GMPS, KAT2B, NR1I2, EIF2B5, BSN, MBD4, H1FX, USP13, LIMD1, KALRN, CCRL2, UBA3, RPL14, CLDN1, SEC22C, RRP9, MAP3K13, SLC33A1, LRRFIP2, MAGI1, CACNA2D2, COPB2, ADIPOQ, SLC22A14, SLC22A13, CHST2, SH3BP5, SLC4A7, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, VGLL4, EDEM1, RUBCN, ECE2, DCAF1, TBC1D5, TATDN2, IP6K1, TSC22D2, EPM2AIP1, PSMD6, TOMM70, TRANK1, SRGAP3, IQSEC1, P2RY14, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, PARP3, SMC4, ABCC5, COX17, ARPC4, ZNF197, RBM6, RBM5, TNK2, ALG3, NME6, CTDSPL, CD96, KCNMB2, STAG1, EIF1B, TRAIP, TFG, ST3GAL6, ARIH2, TADA3, CRTAP, ATG7, ARL6IP5, NPRL2, IGF2BP2, CXCR6, CSPG5, CLDN16, POLQ, CHL1, ARPP21, CCR9, ALDH1L1, USP19, PDIA5, SLC38A3, CYB561D2, TMEM115, TOPBP1, RPP14, HHLA2, FSTL1, FAM107A, WDR6, RASSF1, NISCH, MRPL3, PDCD10, FILIP1L, TREX1, SCN11A, TUSC2, RNF13, MGLL, TWF2, MRAS, COPG1, SLITRK3, NLGN1, TRAK1, DHX30, SACM1L, NCBP2, SCAP, MYH15, PLCH1, EXOSC7, TMCC1, PDZRN3, TNIK, CAND2, MCF2L2, CLASP2, PLXND1, RAD54L2, FRMD4B, STAB1, GPD1L, RFTN1, ATP11B, NBEAL2, NUP210, PLCL2, ANKRD28, FAM208A, KLHL18, DNAJC13, U2SURP, VPS8, LARS2, RYBP, LINC01565, CAPN7, ACAP2, MKRN2, NAT6, FBXL2, ANAPC13, ARMC8, ABHD14A, NEPRO, POC1A, ABI3BP, CNOT10, TMEM158, NDUFAF3, THUMPD3, MYRIP, PTPN23, WWTR1, NECTIN3, TIPARP, CHMP2B, DNAH1, HIGD1A, LRIG1, SUSD5, UBXN7, ERC2, APPL1, HACL1, ARHGEF26, ZBTB20, TTLL3, OR5K1, OR5H1, GNL3, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, FOXP1, KCNMB3, ZBTB11, MORC1, SERP1, CNTN6, LSM3, RBMS3, GOLIM4, NKIRAS1, SPCS1, ACAD9, ASTE1, KLF15, SETD2, GTPBP8, TAGLN3, PRSS50, RBM15B, GPR171, GMPPB, SEC61A1, LINC00312, SCHIP1, LMCD1, PIK3R4, PODXL2, ARHGEF3, TRAT1, VILL, IMPG2, SSUH2, NMD3, TRNT1, ABHD5, COMMD2, DYNC1LI1, A4GNT, C3orf18, DBR1, CRBN, SS18L2, ZNF639, CLDN18, CCDC174, SHISA5, TIMMDC1, ZDHHC3, RSRC1, ZMYND10, PLA1A, TEX264, TMA7, ZNF589, HEMK1, AMOTL2, IP6K2, SFMBT1, NCKIPSD, PHF7, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, GHRL, P2RY13, IL20RB, GPR87, TLR9, DCUN1D1, SEMA5B, XRN1, WDR5B, LZTFL1, PARP14, P4HTM, SLC6A20, IL17RD, GRAMD1C, ROPN1, KLHL24, SIDT1, ELP6, SNRK, QRICH1, PXK, CMTM6, TRMT10C, SLC41A3, PIGX, SLC25A38, ULK4, OXSM, SLC35A5, TMEM45A, FEZF2, IFT57, EBLN2, ANO10, DALRD3, SHQ1, MSL2, TBCCD1, FAIM, SLC25A36, PBRM1, ARL8B, SETD5, DPPA4, P3H2, TMEM39A, ZNF654, TMEM40, ABCF3, LSG1, ABHD10, CHDH, PARL, IL17RB, CDV3, MFN1, YEATS2, IFT122, NGLY1, TBC1D23, CFAP44, CACNA2D3, DCP1A, GLT8D1, EMC3, EAF2, BRK1, ZKSCAN7, MYNN, LMOD3, EIF5A2, CLDND1, MUC13, SUCNR1, RAD18, SEMA3G, MCCC1, LXN, HMCES, MRPS22, NIT2, POGLUT1, BBX, KIF15, ADAMTS9, CCNL1, PLSCR2, PCBP4, PLSCR4, PCNP, HRASLS, MRPL47, SENP7, ABHD6, LRTM1, C3orf14, KIAA1143, ISY1, HHATL, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, WDR48, LRRN1, CIP2A, SLC7A14, SRPRB, SELENOK, SENP2, GNB4, PROK2, EEFSEC, RNF123, NSUN3, CIDEC, CLSTN2, POPDC2, RTP4, MAGEF1, RBSN, KIF9, NFKBIZ, AZI2, ZMAT3, MTMR14, ATG3, MRPS25, CSRNP1, GORASP1, MFSD1, CCDC14, FNDC3B, P2RY12, CDCP1, CCDC71, NT5DC2, SLC26A6, TMEM108, CRELD1, CAMKV, TMEM43, OR5H6, OR5H2, ZXDC, ZBED2, LRRC2, FYCO1, ATP13A3, CEP97, HSPBAP1, C3orf52, VEPH1, QTRT2, CCDC51, TBL1XR1, ZBBX, ZNF385D, LRRC31, EFCC1, NEK11, UBA5, HDAC11, MAP6D1, PHC3, C3orf36, ARL14, THOC7, NAA50, PIGZ, CEP63, CEP70, ABTB1, WDR82, SLC35G2, TSEN2, GRIP2, OR5AC2, RTP3, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, C3orf20, ARL6, ZIC4, ATRIP, ACAD11, IQCG, ATP13A4, FYTTD1, NICN1, CHCHD6, MON1A, CMSS1, HPS3, ACTRT3, JAGN1, KBTBD8, SLC12A8, RETNLB, CCDC54, IL17RC, ABHD14B, LRCH3, RIOX2, ADGRG7, POMGNT2, DIRC2, CEP19, EAF1, DCLK3, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, UCN2, EFCAB12, TMEM41A, ZNF502, BOC, NXPE3, RFT1, OXNAD1, SPSB4, PXYLP1, ZBTB47, TMEM44, ACTR8, CAMK2N2, CMTM7, TXNRD3, OSBPL10, OSBPL11, ZNF501, FANCD2OS, LRRC58, LRRC3B, TM4SF19, TM4SF18, RPL39L, MED12L, GALNT15, GPR62, CPNE4, CCDC58, KCNH8, DNAJC19, OTOL1, FAM3D, ZPLD1, LYZL4, KLHL40, TRIM71, FAM131A, CD200R1, CHCHD4, ZDHHC19, CRYBG3, DCBLD2, LRRC15, FAM43A, TPRA1, TMEM42, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, METTL6, TAMM41, IL17RE, RTP1, IQCF1, GLYCTK, PPM1M, SNTN, SYNPR, LSMEM2, H1FOO, ASB14, TTC14, DTX3L, FAM19A4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, PQLC2L, ZCWPW2, CMC1, NEK10, C3orf79, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, C3orf30, PARP15, SPTSSB, DNAJB8, GPR156, XIRP1, RNF168, CHST13, PRICKLE2, KBTBD12, DHX36, HTR3C, DZIP1L, TTC21A, ALG1L, C3orf67, KCTD6, LIPH, ARL13B, DHFR2, HTR3D, RPL22L1, SLC51A, FBXO45, KLHDC8B, MUC20, GABRR3, HACD2, STT3B, DNAH12, PDE12, DENND6A, TIGIT, C3orf58, SENP5, USF3, NPCDR1, ZBTB38, CADM2, ZNF620, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, ALS2CL, TMIE, SLC9A9, EOGT, EPHA6, FBXW12, C3orf38, HTR3E, ZNF619, ZNF621, RABL3, C3orf56, IGSF10, C3orf33, CCDC66, SLC9C1, TCAIM, ZNF852, ZNF660, SUMF1, RPUSD3, PRRT3, DPH3, C3orf70, TPRG1, ILDR1, TRIM59, TRIM42, EIF4E3, RAB43, CCDC39, CCDC36, KY, C3orf35, GADL1, PRSS42, LRRIQ4, SAMD7, AADACL2, GPR149, ZNF860, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, LNP1, CFAP100, NMNAT3, ZNF445, SPATA12, LHFPL4, TOPAZ1, C3orf62, STIMATE, NRROS, PRSS45, AMIGO3, ZNF662, CDHR4, FAM212A, IQCF2, IQCF5, MUSTN1, VGLL3, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, IQCF3, FOXL2NB, C3orf80, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIRLET7G, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, FAM19A1, STX19, TMEM89, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR570, GXYLT2, FAM198A, CCR2, PRR23A, PRSS44, ESRG, EGOT, GHRLOS, TNK2-AS1, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, PRSS43, IQCJ-SCHIP1, FGD5-AS1, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, TMEM110-MUSTN1, ISY1-RAB43 | See cases | Pathogenic (Dec 2, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:61892-197851986
| AADAC, ACAA1, ACPP, ACTL6A, ACVR2B, ACY1, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, AMT, APEH, APOD, ARF4, RHOA, ATP1B3, ATP2B2, ATP6V1A, ATR, BCHE, BCL6, BDH1, FOXL2, BTD, CACNA1D, SLC25A20, CAMP, CASR, CAV3, CBLB, CCK, CD80, CD86, ENTPD3, CD47, CDC25A, CISH, AP2M1, CLCN2, CCR1, CCR3, CCR4, CCR5, CCR8, ACKR2, COL7A1, COL8A1, CP, CPA3, CPB1, CPN2, CPOX, CRYGS, CSTA, CTNNB1, CX3CR1, CYP8B1, DAG1, DGKG, DAZL, DLG1, DNASE1L3, DOCK3, DRD3, DUSP7, DVL3, ECT2, CELSR3, EHHADH, EIF4A2, EIF4G1, EPHA3, EPHB1, EPHB3, ETV5, MECOM, FANCD2, FBLN2, FGF12, FHIT, FLNB, GAP43, GATA2, GBE1, GHSR, GLB1, GNAI2, GNAT1, GOLGA4, GOLGB1, GP5, GP9, XCR1, GPR15, GPR27, GPX1, GRM2, GRM7, GSK3B, GTF2E1, GYG1, HCLS1, HGD, HRH1, HRG, HES1, HTR1F, HYAL1, IL1RAP, IL5RA, IL12A, IMPDH2, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, KNG1, KPNA1, KPNA4, LAMB2, RPSA, LPP, LSAMP, LTF, TM4SF1, MAP4, MBNL1, MCM2, MELTF, MITF, MLF1, MLH1, MME, MOBP, CD200, MST1, MST1R, MUC4, MYD88, MYL3, MYLK, NCK1, NDUFB4, NDUFB5, NKTR, OGG1, OPA1, CLDN11, OXTR, P2RY1, PAK2, CNTN3, PCCB, PCYT1A, PDHB, PFKFB4, PFN2, SERPINI1, SERPINI2, PIK3CA, PIK3CB, PLCD1, PLD1, PLOD2, PLS1, PLSCR1, PLXNA1, PLXNB1, POLR2H, POU1F1, PPARG, PPP1R2, PPP2R3A, PRKAR2A, PRKCD, PRKCI, PROS1, MASP1, PSMD2, PTH1R, PTPRG, PTX3, QARS, RAB5A, RAF1, RAP2B, RARB, RARRES1, RASA2, RBP1, RBP2, RFC4, RHO, SNORA63, SNORA62, ROBO1, ROBO2, RPL15, RPL24, RPL29, RPL32, RPL35A, RPN1, RYK, SATB1, ATXN7, SCN5A, SCN10A, SEC13, SEMA3F, SETMAR, TRA2B, SHOX2, SI, SIAH2, ST6GAL1, SKIL, SLC2A2, SLC6A1, SLC6A6, SLC6A11, SLC15A2, SLCO2A1, HLTF, SMARCC1, SOX2, SSR3, SST, STAC, NEK4, SYN2, TCTA, TDGF1, TERC, TF, TFDP2, TFRC, TGM4, TGFBR2, THPO, THRB, TIMP4, TKT, SEC62, TM4SF4, TMF1, CLEC3B, TNNC1, TOP2B, NR2C2, TRH, TRPC1, UBA7, UBE2E1, UBE2E2, UBP1, UPK1B, UMPS, USP4, UQCRC1, CLRN1, VHL, VIPR1, WNT5A, WNT7A, XPC, ZIC1, CNBP, ZNF35, ZNF80, ZNF148, BRPF1, IFRD2, MAPKAPK3, SEMA3B, SLMAP, MANF, RAB7A, KCNAB1, FXR1, COLQ, ACOX2, BAP1, EOMES, HYAL3, SOX14, BFSP2, CAMK1, CGGBP1, BHLHE40, RUVBL1, CADPS, TP63, CHRD, HYAL2, B4GALT4, B3GALNT1, SNX4, TNFSF10, SUCLG2, HESX1, GMPS, KAT2B, NR1I2, EIF2B5, BSN, MBD4, H1FX, USP13, LIMD1, KALRN, CCRL2, UBA3, RPL14, CLDN1, SEC22C, RRP9, MAP3K13, SLC33A1, LRRFIP2, MAGI1, CACNA2D2, COPB2, ADIPOQ, SLC22A14, SLC22A13, CHST2, SH3BP5, SLC4A7, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, VGLL4, EDEM1, RUBCN, ECE2, DCAF1, TBC1D5, TATDN2, IP6K1, TSC22D2, EPM2AIP1, PSMD6, TOMM70, TRANK1, SRGAP3, IQSEC1, P2RY14, DLEC1, EXOG, XYLB, OXSR1, NR1D2, PDCD6IP, PARP3, SMC4, ABCC5, COX17, ARPC4, ZNF197, RBM6, RBM5, TNK2, ALG3, NME6, CTDSPL, CD96, KCNMB2, STAG1, EIF1B, TRAIP, TFG, ST3GAL6, ARIH2, TADA3, CRTAP, ATG7, ARL6IP5, NPRL2, IGF2BP2, CXCR6, CSPG5, CLDN16, POLQ, CHL1, ARPP21, CCR9, ALDH1L1, USP19, PDIA5, SLC38A3, CYB561D2, TMEM115, TOPBP1, RPP14, HHLA2, FSTL1, FAM107A, WDR6, RASSF1, NISCH, MRPL3, PDCD10, FILIP1L, TREX1, SCN11A, TUSC2, RNF13, MGLL, TWF2, MRAS, COPG1, SLITRK3, NLGN1, TRAK1, DHX30, SACM1L, NCBP2, SCAP, MYH15, PLCH1, EXOSC7, TMCC1, PDZRN3, TNIK, CAND2, MCF2L2, CLASP2, PLXND1, RAD54L2, FRMD4B, STAB1, GPD1L, RFTN1, ATP11B, NBEAL2, NUP210, PLCL2, ANKRD28, FAM208A, KLHL18, DNAJC13, U2SURP, VPS8, LARS2, RYBP, LINC01565, CAPN7, ACAP2, MKRN2, NAT6, FBXL2, ANAPC13, ARMC8, ABHD14A, NEPRO, POC1A, ABI3BP, CNOT10, TMEM158, NDUFAF3, THUMPD3, MYRIP, PTPN23, WWTR1, NECTIN3, TIPARP, CHMP2B, DNAH1, HIGD1A, LRIG1, SUSD5, UBXN7, ERC2, APPL1, HACL1, ARHGEF26, ZBTB20, TTLL3, OR5K1, OR5H1, GNL3, FAM162A, PCOLCE2, SEC22A, GPR160, FETUB, NPHP3, ATP2C1, LAMP3, FOXP1, KCNMB3, ZBTB11, MORC1, SERP1, CNTN6, LSM3, RBMS3, GOLIM4, NKIRAS1, SPCS1, ACAD9, ASTE1, KLF15, SETD2, GTPBP8, TAGLN3, PRSS50, RBM15B, GPR171, GMPPB, SEC61A1, LINC00312, SCHIP1, LMCD1, PIK3R4, PODXL2, ARHGEF3, TRAT1, VILL, IMPG2, SSUH2, NMD3, TRNT1, ABHD5, COMMD2, DYNC1LI1, A4GNT, C3orf18, DBR1, CRBN, SS18L2, ZNF639, CLDN18, CCDC174, SHISA5, TIMMDC1, ZDHHC3, RSRC1, ZMYND10, PLA1A, TEX264, TMA7, ZNF589, HEMK1, AMOTL2, IP6K2, SFMBT1, NCKIPSD, PHF7, ACKR4, PEX5L, RAB6B, SELENOT, FBXO40, DNAJB11, GHRL, P2RY13, IL20RB, GPR87, TLR9, DCUN1D1, SEMA5B, XRN1, WDR5B, LZTFL1, PARP14, P4HTM, SLC6A20, IL17RD, GRAMD1C, ROPN1, KLHL24, SIDT1, ELP6, SNRK, QRICH1, PXK, CMTM6, TRMT10C, SLC41A3, PIGX, SLC25A38, ULK4, OXSM, SLC35A5, TMEM45A, FEZF2, IFT57, EBLN2, ANO10, DALRD3, SHQ1, MSL2, TBCCD1, FAIM, SLC25A36, PBRM1, ARL8B, SETD5, DPPA4, P3H2, TMEM39A, ZNF654, TMEM40, ABCF3, LSG1, ABHD10, CHDH, PARL, IL17RB, CDV3, MFN1, YEATS2, IFT122, NGLY1, TBC1D23, CFAP44, CACNA2D3, DCP1A, GLT8D1, EMC3, EAF2, BRK1, ZKSCAN7, MYNN, LMOD3, EIF5A2, CLDND1, MUC13, SUCNR1, RAD18, SEMA3G, MCCC1, LXN, HMCES, MRPS22, NIT2, POGLUT1, BBX, KIF15, ADAMTS9, CCNL1, PLSCR2, PCBP4, PLSCR4, PCNP, HRASLS, MRPL47, SENP7, ABHD6, LRTM1, C3orf14, KIAA1143, ISY1, HHATL, HEG1, KIAA1257, ARHGAP31, NCEH1, IFT80, CCDC191, WDR48, LRRN1, CIP2A, SLC7A14, SRPRB, SELENOK, SENP2, GNB4, PROK2, EEFSEC, RNF123, NSUN3, CIDEC, CLSTN2, POPDC2, RTP4, MAGEF1, RBSN, KIF9, NFKBIZ, AZI2, ZMAT3, MTMR14, ATG3, MRPS25, CSRNP1, GORASP1, MFSD1, CCDC14, FNDC3B, P2RY12, CDCP1, CCDC71, NT5DC2, SLC26A6, TMEM108, CRELD1, CAMKV, TMEM43, OR5H6, OR5H2, ZXDC, ZBED2, LRRC2, FYCO1, ATP13A3, CEP97, HSPBAP1, C3orf52, VEPH1, QTRT2, CCDC51, TBL1XR1, ZBBX, ZNF385D, LRRC31, EFCC1, NEK11, UBA5, HDAC11, MAP6D1, PHC3, C3orf36, ARL14, THOC7, NAA50, PIGZ, CEP63, CEP70, ABTB1, WDR82, SLC35G2, TSEN2, GRIP2, OR5AC2, RTP3, PARP9, ESYT3, SPATA16, EIF2A, B3GNT5, C3orf20, ARL6, ZIC4, ATRIP, ACAD11, IQCG, ATP13A4, FYTTD1, NICN1, CHCHD6, MON1A, CMSS1, HPS3, ACTRT3, JAGN1, KBTBD8, SLC12A8, RETNLB, CCDC54, IL17RC, ABHD14B, LRCH3, RIOX2, ADGRG7, POMGNT2, DIRC2, CEP19, EAF1, DCLK3, GFM1, LMLN, KLHL6, MAATS1, PHLDB2, VWA5B2, UCN2, EFCAB12, TMEM41A, ZNF502, BOC, NXPE3, RFT1, OXNAD1, SPSB4, PXYLP1, ZBTB47, TMEM44, ACTR8, CAMK2N2, CMTM7, TXNRD3, OSBPL10, OSBPL11, ZNF501, FANCD2OS, LRRC58, LRRC3B, TM4SF19, TM4SF18, RPL39L, MED12L, GALNT15, GPR62, CPNE4, CCDC58, KCNH8, DNAJC19, OTOL1, FAM3D, ZPLD1, LYZL4, KLHL40, TRIM71, FAM131A, CD200R1, CHCHD4, ZDHHC19, CRYBG3, DCBLD2, LRRC15, FAM43A, TPRA1, TMEM42, UROC1, ERICH6, NUDT16, COL6A6, GRK7, TMEM207, METTL6, TAMM41, IL17RE, RTP1, IQCF1, GLYCTK, PPM1M, SNTN, SYNPR, LSMEM2, H1FOO, ASB14, TTC14, DTX3L, FAM19A4, SGO1, PP2D1, EFHB, PPM1L, WDR49, LRRC34, CPNE9, DPPA2, CCDC80, BTLA, CCDC12, MB21D2, PPP4R2, XXYLT1, ROPN1B, C3orf22, PQLC2L, ZCWPW2, CMC1, NEK10, C3orf79, CCDC50, PYDC2, SPICE1, CMTM8, CCDC13, FGD5, CNTN4, IGSF11, C3orf30, PARP15, SPTSSB, DNAJB8, GPR156, XIRP1, RNF168, CHST13, PRICKLE2, KBTBD12, DHX36, HTR3C, DZIP1L, TTC21A, ALG1L, C3orf67, KCTD6, LIPH, ARL13B, DHFR2, HTR3D, RPL22L1, SLC51A, FBXO45, KLHDC8B, MUC20, GABRR3, HACD2, STT3B, DNAH12, PDE12, DENND6A, TIGIT, C3orf58, SENP5, USF3, NPCDR1, ZBTB38, CADM2, ZNF620, NAALADL2, ZDHHC23, TCTEX1D2, SMCO1, COL6A5, GK5, PLCXD2, GCSAM, UTS2B, ALS2CL, TMIE, SLC9A9, EOGT, EPHA6, FBXW12, C3orf38, HTR3E, ZNF619, ZNF621, RABL3, C3orf56, IGSF10, C3orf33, CCDC66, SLC9C1, TCAIM, ZNF852, ZNF660, SUMF1, RPUSD3, PRRT3, DPH3, C3orf70, TPRG1, ILDR1, TRIM59, TRIM42, EIF4E3, RAB43, CCDC39, CCDC36, KY, C3orf35, GADL1, PRSS42, LRRIQ4, SAMD7, AADACL2, GPR149, ZNF860, TMPRSS7, CD200R1L, PAQR9, RTP2, OSTN, ATP13A5, SOX2-OT, NME9, WDR53, LNP1, CFAP100, NMNAT3, ZNF445, SPATA12, LHFPL4, TOPAZ1, C3orf62, STIMATE, NRROS, PRSS45, AMIGO3, ZNF662, CDHR4, FAM212A, IQCF2, IQCF5, MUSTN1, VGLL3, PRR23B, PRR23C, PLSCR5, ANKUB1, LEKR1, TMEM212, IQCF3, FOXL2NB, C3orf80, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIRLET7G, MIR128-2, MIR138-1, MIR191, MIR26A1, MIR28, FAM19A1, STX19, TMEM89, IQCF6, SMIM4, ARGFX, TMPPE, ALG1L2, TXNRD3NB, SPINK8, ARIH2OS, C3orf84, MINDY4B, GMNC, TMEM183B, IQCJ, SNORA81, MIR570, GXYLT2, FAM198A, CCR2, PRR23A, PRSS44, ESRG, EGOT, GHRLOS, TNK2-AS1, SEMA3F-AS1, ZNF717, MIR1224, FRG2C, PRSS43, IQCJ-SCHIP1, FGD5-AS1, KRBOX1, KRBOX1-AS1, MORC1-AS1, NECTIN3-AS1, IGSF11-AS1, FOXP1-IT1, ARPC4-TTLL3, TMEM110-MUSTN1, ISY1-RAB43 | See cases | Pathogenic (Jul 14, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr3:96575117-98212517
| OR5K1, OR5H1, OR5H6, OR5H2, OR5AC2, ARL6, RIOX2, CRYBG3, GABRR3, EPHA6, OR5H14, OR5H15, OR5K3, OR5K4 | See cases | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr3:97145481-97595628
| ARL6, CRYBG3, EPHA6 | See cases | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr3:93538467-103607593
- GRCh38:
- Chr3:93819623-103888749
| COL8A1, CPOX, GPR15, PROS1, RPL24, TOMM70, TFG, ST3GAL6, FILIP1L, ABI3BP, OR5K1, OR5H1, ZBTB11, IMPG2, TRMT10C, TMEM45A, TBC1D23, CLDND1, NIT2, PCNP, SENP7, NSUN3, NFKBIZ, OR5H6, OR5H2, CEP97, OR5AC2, ARL6, CMSS1, RIOX2, ADGRG7, NXPE3, ZPLD1, CRYBG3, DCBLD2, LINC02085, ARL13B, DHFR2, GABRR3, LINC00879, EPHA6, LNP1, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, STX19, ZBTB11-AS1, MIR3921, MIR548AB, ST3GAL6-AS1, HP09053, LOC101929411, MIR8060, LOC110121113, LOC110121116 | See cases | Likely pathogenic (Jan 25, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:93519464-145413168
- GRCh38:
- Chr3:93800620-145695381
| ACPP, ADCY5, ADPRH, ALCAM, ATP1B3, ATP6V1A, ATR, FOXL2, CASR, CBLB, CD80, CD86, CD47, COL8A1, CPOX, CSTA, DRD3, EPHB1, GAP43, GATA2, GOLGB1, GP9, GPR15, GSK3B, GTF2E1, HCLS1, HGD, ITGB5, KPNA1, LSAMP, MCM2, CD200, MYLK, NCK1, NDUFB4, PCCB, PIK3CB, PLS1, PLXNA1, PPP2R3A, PROS1, RASA2, RBP1, RBP2, RHO, RPL24, RPN1, RYK, SLC15A2, SLCO2A1, TF, TFDP2, TRH, TRPC1, UPK1B, UMPS, CNBP, ZNF80, ZNF148, RAB7A, SOX14, BFSP2, RUVBL1, B4GALT4, SNX4, NR1I2, MBD4, H1FX, KALRN, COPB2, CHST2, STXBP5L, RNF7, GUCA1C, IQCB1, DZIP3, TOMM70, COX17, CD96, STAG1, TFG, ST3GAL6, POLQ, ALDH1L1, PDIA5, TOPBP1, HHLA2, FSTL1, MRPL3, FILIP1L, MGLL, MRAS, COPG1, MYH15, TMCC1, PLXND1, DNAJC13, U2SURP, LINC01565, ANAPC13, ARMC8, NEPRO, ABI3BP, NECTIN3, ZBTB20, OR5K1, OR5H1, FAM162A, PCOLCE2, SEC22A, NPHP3, ATP2C1, ZBTB11, MORC1, ACAD9, ASTE1, KLF15, GTPBP8, TAGLN3, SEC61A1, PIK3R4, PODXL2, TRAT1, IMPG2, A4GNT, DBR1, CLDN18, TIMMDC1, PLA1A, AMOTL2, ACKR4, RAB6B, FBXO40, IL20RB, SEMA5B, XRN1, WDR5B, PARP14, GRAMD1C, ROPN1, SIDT1, TRMT10C, SLC41A3, SLC35A5, TMEM45A, IFT57, MSL2, FAIM, SLC25A36, DPPA4, TMEM39A, ABHD10, CDV3, IFT122, TBC1D23, CFAP44, EAF2, CLDND1, MUC13, HMCES, MRPS22, NIT2, POGLUT1, BBX, PCNP, SENP7, ISY1, HEG1, KIAA1257, ARHGAP31, CCDC191, CIP2A, SRPRB, BPESC1, EEFSEC, NSUN3, CLSTN2, POPDC2, NFKBIZ, ATG3, CCDC14, TMEM108, OR5H6, OR5H2, ZXDC, ZBED2, CEP97, HSPBAP1, C3orf52, QTRT2, EFCC1, NEK11, UBA5, C3orf36, NAA50, CEP63, CEP70, ABTB1, SLC35G2, OR5AC2, PARP9, ESYT3, ARL6, ACAD11, CHCHD6, CMSS1, SLC12A8, RETNLB, CCDC54, RIOX2, ADGRG7, DIRC2, BFSP2-AS1, MAATS1, PHLDB2, LOC90246, EFCAB12, BOC, NXPE3, SPSB4, PXYLP1, TXNRD3, OSBPL11, LRRC58, CPNE4, CCDC58, ZPLD1, CD200R1, CRYBG3, DCBLD2, TPRA1, UROC1, NUDT16, COL6A6, GRK7, H1FOO, PISRT1, DTX3L, LINC00635, DPPA2, CCDC80, BTLA, ROPN1B, C3orf22, SPICE1, LINC02085, IGSF11, C3orf30, PARP15, DNAJB8, GPR156, CHST13, KBTBD12, DZIP1L, ALG1L, ARL13B, DHFR2, GABRR3, HACD2, TIGIT, C3orf58, USF3, ZBTB38, ZDHHC23, LINC00879, COL6A5, GK5, PLCXD2, GCSAM, TUSC7, SLC9A9, LINC00636, EPHA6, DNAJB8-AS1, RABL3, C3orf56, SLC9C1, ILDR1, TRIM42, RAB43, KY, LOC339874, H1FX-AS1, DUBR, TMPRSS7, CD200R1L, PAQR9, NME9, LNP1, CFAP100, NPHP3-AS1, NMNAT3, PRR23B, PRR23C, C3orf85, LINC01205, FOXL2NB, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIR198, STX19, ARGFX, ALG1L2, TXNRD3NB, LOC646730, LINC00488, SNORA7B, SNORA58, MIR567, MIR568, PRR23A, ZBTB11-AS1, LOC100129297, LINC02035, ZBTB20-AS1, TRC-GCA6-1, TRC-GCA9-1, LOC100289361, MIR548I1, LINC00882, MIR544B, MIR3921, MORC1-AS1, NECTIN3-AS1, LINC01279, LINC00901, IGSF11-AS1, MYLK-AS1, CCDC37-DT, TMCC1-AS1, LINC02000, LINC01210, LOC100507291, LOC100507389, NPHP3-ACAD11, ISY1-RAB43, MIR4445, MIR4796, MIR4788, MIR548AB, MIR4446, MIR4447, MIR5002, MIR5092, MIR5704, MIR5682, LINC00903, ALDH1L1-AS2, MYLK-AS2, CFAP44-AS1, RUVBL1-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ALDH1L1-AS1, ST3GAL6-AS1, ARHGAP31-AS1, SLC9A9-AS1, LSAMP-AS1, LOC101926968, LINC02049, LOC101927056, LINC02016, LINC01471, GATA2-AS1, TMEM108-AS1, NCK1-DT, CLSTN2-AS1, PAQR9-AS1, HP09053, LOC101929411, LOC101929579, LINC01990, LINC01215, LINC02042, LINC02044, ZBTB20-AS5, MIR6083, MIR6826, MIR7110, MIR7976, MIR8060, MIR6825, MIR8076, MIR6827, LOC102723582, LINC01391, ZBTB20-AS3, LOC105374042, LINC02024, LOC105374060, LINC02021, LINC02014, LINC02004, LOC105374312, RER, IL20RB-AS1, LOC108004531, LOC108004532, LOC108192211, LOC108281117, LOC108644431, SNORD155, LOC110120612, LOC110120613, LOC110120614, LOC110120631, LOC110120732, LOC110120785, LOC110121113, LOC110121116, LOC110121175, LOC110121187, LOC110121244, LOC111255649, LOC111365173, LOC111365202, LOC111556160, LOC111562374, LOC111828514 | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:96899065-97498209
- GRCh38:
- Chr3:97180221-97779365
| ARL6, EPHA6 | See cases | Uncertain significance (Oct 22, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:97514213-115382196
- GRCh38:
- Chr3:97795369-115663349
| ALCAM, ATP6V1A, CBLB, CD47, COL8A1, CPOX, DRD3, GAP43, GPR15, CD200, RPL24, ZNF80, GUCA1C, DZIP3, TOMM70, CD96, TFG, ST3GAL6, HHLA2, FILIP1L, MYH15, NEPRO, ABI3BP, NECTIN3, ZBTB20, OR5K1, OR5H1, ZBTB11, MORC1, GTPBP8, TAGLN3, TRAT1, IMPG2, GRAMD1C, SIDT1, TRMT10C, SLC35A5, TMEM45A, IFT57, DPPA4, ABHD10, TBC1D23, CFAP44, CLDND1, NIT2, BBX, PCNP, SENP7, CCDC191, CIP2A, NFKBIZ, ATG3, OR5H6, OR5H2, ZBED2, CEP97, C3orf52, QTRT2, NAA50, OR5AC2, ARL6, CMSS1, RETNLB, CCDC54, RIOX2, ADGRG7, PHLDB2, BOC, NXPE3, ZPLD1, CD200R1, CRYBG3, DCBLD2, LINC00635, DPPA2, CCDC80, BTLA, SPICE1, LINC02085, GABRR3, TIGIT, USF3, ZDHHC23, PLCXD2, GCSAM, LINC00636, SLC9C1, DUBR, TMPRSS7, CD200R1L, LNP1, C3orf85, LINC01205, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, LINC00488, MIR567, MIR568, ZBTB11-AS1, LOC100129297, ZBTB20-AS1, LINC00882, MIR3921, MORC1-AS1, NECTIN3-AS1, LINC01279, MIR4445, MIR4796, MIR548AB, MIR4446, CFAP44-AS1, PLCXD2-AS1, ZBTB20-AS4, ST3GAL6-AS1, HP09053, LOC101929411, LOC101929579, LINC01990, LINC01215, LINC02042, LINC02044, ZBTB20-AS5, MIR8076, ZBTB20-AS3, LOC105374042, LOC108004531, LOC110120631, LOC110121116, LOC110121175, LOC110121187, LOC111255649 | See cases | Pathogenic (Feb 20, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr3:93538467-116605903
- GRCh38:
- Chr3:93819623-116887056
| ALCAM, ATP6V1A, CBLB, CD47, COL8A1, CPOX, DRD3, GAP43, GPR15, LSAMP, CD200, PROS1, RPL24, ZNF80, GUCA1C, DZIP3, TOMM70, CD96, TFG, ST3GAL6, HHLA2, FILIP1L, MYH15, NEPRO, ABI3BP, NECTIN3, ZBTB20, OR5K1, OR5H1, ZBTB11, MORC1, GTPBP8, TAGLN3, TRAT1, IMPG2, GRAMD1C, SIDT1, TRMT10C, SLC35A5, TMEM45A, IFT57, DPPA4, ABHD10, TBC1D23, CFAP44, CLDND1, NIT2, BBX, PCNP, SENP7, CCDC191, CIP2A, NSUN3, NFKBIZ, ATG3, OR5H6, OR5H2, ZBED2, CEP97, C3orf52, QTRT2, NAA50, OR5AC2, ARL6, CMSS1, RETNLB, CCDC54, RIOX2, ADGRG7, PHLDB2, BOC, NXPE3, ZPLD1, CD200R1, CRYBG3, DCBLD2, LINC00635, DPPA2, CCDC80, BTLA, SPICE1, LINC02085, ARL13B, DHFR2, GABRR3, TIGIT, USF3, ZDHHC23, LINC00879, PLCXD2, GCSAM, TUSC7, LINC00636, EPHA6, SLC9C1, DUBR, TMPRSS7, CD200R1L, LNP1, C3orf85, LINC01205, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, STX19, LINC00488, MIR567, MIR568, ZBTB11-AS1, LOC100129297, ZBTB20-AS1, LINC00882, MIR3921, MORC1-AS1, NECTIN3-AS1, LINC01279, MIR4445, MIR4796, MIR548AB, MIR4446, MIR4447, LINC00903, CFAP44-AS1, PLCXD2-AS1, ZBTB20-AS4, ST3GAL6-AS1, LSAMP-AS1, HP09053, LOC101929411, LOC101929579, LINC01990, LINC01215, LINC02042, LINC02044, ZBTB20-AS5, MIR8060, MIR8076, ZBTB20-AS3, LOC105374042, LOC108004531, LOC108004532, SNORD155, LOC110120631, LOC110121113, LOC110121116, LOC110121175, LOC110121187, LOC111255649 | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:97320943-97612682
- GRCh38:
- Chr3:97602099-97893838
| ARL6, CRYBG3, EPHA6 | See cases | Uncertain significance (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr3:93605515-122935530
- GRCh38:
- Chr3:93886671-123216683
| ADPRH, ALCAM, ATP6V1A, CASR, CBLB, CD80, CD86, CD47, COL8A1, CPOX, CSTA, DRD3, GAP43, GOLGB1, GPR15, GSK3B, GTF2E1, HCLS1, HGD, KPNA1, LSAMP, CD200, NDUFB4, PROS1, RPL24, SLC15A2, UPK1B, ZNF80, B4GALT4, NR1I2, STXBP5L, GUCA1C, IQCB1, DZIP3, TOMM70, COX17, CD96, TFG, ST3GAL6, POLQ, PDIA5, HHLA2, FSTL1, FILIP1L, MYH15, NEPRO, ABI3BP, NECTIN3, ZBTB20, OR5K1, OR5H1, FAM162A, SEC22A, ZBTB11, MORC1, GTPBP8, TAGLN3, TRAT1, IMPG2, TIMMDC1, PLA1A, FBXO40, SEMA5B, WDR5B, PARP14, GRAMD1C, SIDT1, TRMT10C, SLC35A5, TMEM45A, IFT57, DPPA4, TMEM39A, ABHD10, TBC1D23, CFAP44, EAF2, CLDND1, NIT2, POGLUT1, BBX, PCNP, SENP7, ARHGAP31, CCDC191, CIP2A, NSUN3, POPDC2, NFKBIZ, ATG3, OR5H6, OR5H2, ZBED2, CEP97, HSPBAP1, C3orf52, QTRT2, NAA50, OR5AC2, PARP9, ARL6, CMSS1, RETNLB, CCDC54, RIOX2, ADGRG7, DIRC2, MAATS1, PHLDB2, BOC, NXPE3, LRRC58, CCDC58, ZPLD1, CD200R1, CRYBG3, DCBLD2, DTX3L, LINC00635, DPPA2, CCDC80, BTLA, SPICE1, LINC02085, IGSF11, C3orf30, PARP15, GPR156, ARL13B, DHFR2, GABRR3, TIGIT, USF3, ZDHHC23, LINC00879, PLCXD2, GCSAM, TUSC7, LINC00636, EPHA6, RABL3, SLC9C1, ILDR1, DUBR, TMPRSS7, CD200R1L, LNP1, C3orf85, LINC01205, OR5K2, OR5H14, OR5H15, OR5K3, OR5K4, MIR198, STX19, ARGFX, LINC00488, MIR567, MIR568, ZBTB11-AS1, LOC100129297, LINC02035, ZBTB20-AS1, LINC00882, MIR3921, MORC1-AS1, NECTIN3-AS1, LINC01279, LINC00901, IGSF11-AS1, MIR4445, MIR4796, MIR548AB, MIR4446, MIR4447, MIR5682, LINC00903, CFAP44-AS1, PLCXD2-AS1, ZBTB20-AS4, B4GALT4-AS1, ST3GAL6-AS1, ARHGAP31-AS1, LSAMP-AS1, LOC101926968, LINC02049, HP09053, LOC101929411, LOC101929579, LINC01990, LINC01215, LINC02042, LINC02044, ZBTB20-AS5, MIR7110, MIR8060, MIR8076, LOC102723582, ZBTB20-AS3, LOC105374042, LINC02024, LOC105374060, LOC108004531, LOC108004532, SNORD155, LOC110120631, LOC110121113, LOC110121116, LOC110121175, LOC110121187, LOC111255649, LOC111365173 | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |