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Items: 42

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:97498355-97583359
ARL6, CRYBG3Bardet-Biedl syndromeLikely pathogenic
(Jul 20, 2016)
no assertion criteria provided
2.
GRCh37:
Chr3:97508904-97513012
ARL6Bardet-Biedl syndromeLikely pathogenic
(Jul 20, 2016)
no assertion criteria provided
3.
GRCh37:
Chr3:97483609
GRCh38:
Chr3:97764765
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr3:97483642
GRCh38:
Chr3:97764798
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr3:97483703
GRCh38:
Chr3:97764859
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr3:97483712
GRCh38:
Chr3:97764868
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:97483778
GRCh38:
Chr3:97764934
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr3:97485464
GRCh38:
Chr3:97766620
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr3:97487043
GRCh38:
Chr3:97768199
ARL6Bardet-Biedl syndrome 3Pathogenic
(Sep 1, 2004)
no assertion criteria provided
10.
GRCh37:
Chr3:97487043
GRCh38:
Chr3:97768199
ARL6Bardet-Biedl syndrome 3Pathogenic
(Sep 1, 2004)
no assertion criteria provided
11.
GRCh37:
Chr3:97499441
GRCh38:
Chr3:97780597
ARL6not specifiedBenigncriteria provided, single submitter
12.
GRCh37:
Chr3:97503750
GRCh38:
Chr3:97784906
ARL6not specifiedLikely benigncriteria provided, single submitter
13.
GRCh37:
Chr3:97503810
GRCh38:
Chr3:97784966
ARL6Retinitis pigmentosa 55Pathogenic
(Apr 15, 2011)
no assertion criteria provided
14.
GRCh37:
Chr3:97503816
GRCh38:
Chr3:97784972
ARL6Bardet-Biedl syndromePathogenicno assertion criteria provided
15.
GRCh37:
Chr3:97503825
GRCh38:
Chr3:97784981
ARL6Retinitis pigmentosaLikely pathogenic
(Jan 1, 2015)
no assertion criteria provided
16.
GRCh37:
Chr3:97503929
GRCh38:
Chr3:97785085
ARL6not specifiedLikely benigncriteria provided, single submitter
17.
GRCh37:
Chr3:97506835-97506837
GRCh38:
Chr3:97787991-97787993
ARL6Bardet-Biedl syndrome 3Pathogenicno assertion criteria provided
18.
GRCh37:
Chr3:97506846
GRCh38:
Chr3:97788002
ARL6not providedLikely pathogeniccriteria provided, single submitter
19.
GRCh37:
Chr3:97506848
GRCh38:
Chr3:97788004
ARL6Bardet-Biedl syndrome 3Pathogenic
(Sep 1, 2004)
no assertion criteria provided
20.
GRCh37:
Chr3:97510607
GRCh38:
Chr3:97791763
ARL6Bardet-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
21.
GRCh37:
Chr3:97510641
GRCh38:
Chr3:97791797
ARL6Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 1, modifier ofPathogenic, risk factor
(Sep 1, 2004)
no assertion criteria provided
22.
GRCh37:
Chr3:97510644
GRCh38:
Chr3:97791800
ARL6Bardet-Biedl syndrome 3Pathogenic
(Sep 1, 2004)
no assertion criteria provided
23.
GRCh37:
Chr3:97510661
GRCh38:
Chr3:97791817
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr3:97510667
GRCh38:
Chr3:97791823
ARL6not specifiedUncertain significance
(Apr 27, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr3:97516864
GRCh38:
Chr3:97798020
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr3:97517118
GRCh38:
Chr3:97798274
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveBenign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr3:97517148
GRCh38:
Chr3:97798304
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr3:97517168
GRCh38:
Chr3:97798324
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr3:97517177
GRCh38:
Chr3:97798333
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr3:97517363
GRCh38:
Chr3:97798519
ARL6Bardet-Biedl syndrome, Retinitis Pigmentosa, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr3:96579273-98216225
See casesUncertain significance
(Dec 14, 2014)
no assertion criteria provided
32.
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 casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
33.
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 casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
34.
GRCh37:
Chr3:96575117-98212517
See casesUncertain significanceno assertion criteria provided
35.
GRCh37:
Chr3:97145481-97595628
ARL6, CRYBG3, EPHA6See casesUncertain significanceno assertion criteria provided
36.
GRCh37:
Chr3:93538467-103607593
GRCh38:
Chr3:93819623-103888749
See casesLikely pathogenic
(Jan 25, 2013)
no assertion criteria provided
37.
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 casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
38.
GRCh37:
Chr3:96899065-97498209
GRCh38:
Chr3:97180221-97779365
ARL6, EPHA6See casesUncertain significance
(Oct 22, 2013)
no assertion criteria provided
39.
GRCh37:
Chr3:97514213-115382196
GRCh38:
Chr3:97795369-115663349
See casesPathogenic
(Feb 20, 2012)
no assertion criteria provided
40.
GRCh37:
Chr3:93538467-116605903
GRCh38:
Chr3:93819623-116887056
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
41.
GRCh37:
Chr3:97320943-97612682
GRCh38:
Chr3:97602099-97893838
ARL6, CRYBG3, EPHA6See casesUncertain significance
(Nov 30, 2010)
no assertion criteria provided
42.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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