ClinVar Miner

Variants studied for inherited renal tubular disease

Included ClinVar conditions (192):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
3450 1828 13843 13509 2262 3 111 33101

Gene and significance breakdown #

Total genes and gene combinations: 256
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
CEP290 512 102 929 1478 90 0 3 3028
DYNC2H1 357 249 685 1781 149 0 1 2920
EVC2 203 128 362 933 72 0 0 1614
EVC 166 129 418 861 112 0 0 1579
NPHP4 80 48 755 561 83 0 3 1425
CEP164 60 47 563 496 49 0 2 1188
KIAA0586 83 34 587 407 56 0 2 1166
TTC21B 79 46 534 423 55 0 0 1052
WDR19 77 48 495 387 41 0 2 982
IFT172 43 28 460 421 26 0 0 953
IFT140 54 23 471 456 48 0 1 951
INVS 87 29 364 393 29 0 4 863
NPHP3, NPHP3-ACAD11 72 33 453 302 45 0 2 851
ZNF423 3 2 395 352 40 0 0 785
NPHP1 74 24 298 340 24 0 1 734
OCRL 76 42 113 313 47 0 35 598
IFT80, TRIM59-IFT80 42 17 309 205 34 0 1 572
NEK1 48 30 284 200 42 0 0 558
IFT122 36 16 250 233 42 0 5 537
IFT140, LOC105371046 39 19 251 236 29 0 0 523
WDR35 37 16 260 160 54 0 1 492
SLC12A3 124 117 201 75 53 0 1 487
SDCCAG8 37 18 254 170 15 0 0 473
IQCB1 49 36 215 136 28 0 1 440
CEP83 34 3 193 177 12 0 1 418
DYNC2I1 20 9 145 169 41 0 1 377
CEP120 17 10 131 143 36 0 0 334
KCNJ10 19 9 197 93 23 0 1 325
DYNC2I2 25 10 127 125 17 0 0 296
ANKS6 20 7 105 116 34 0 0 266
SLC3A1 60 43 129 47 17 0 0 266
XPNPEP3 8 5 138 60 33 0 0 229
NEK8 10 6 123 79 15 0 0 221
TRPM6 26 4 124 36 25 0 0 213
GLIS2 3 0 115 60 28 0 2 192
GNAS 69 34 50 33 4 0 2 184
CLCN5 33 21 83 15 29 0 12 181
SLC12A1 19 16 101 23 18 0 0 172
IFT172, KRTCAP3 11 7 74 68 7 0 1 160
SLC4A4 5 2 107 18 30 0 0 158
NR3C2 22 9 66 23 40 0 0 156
TMEM67 21 7 97 24 8 0 4 155
IFT140, LOC126862260 6 6 69 77 5 0 0 154
SLC7A9 33 32 66 12 13 0 0 139
IFT172, LOC126806173 9 3 68 56 5 0 1 138
DYNC2I2, LOC126860772 11 4 70 47 7 0 0 134
EGF 1 0 80 22 29 0 0 131
STX16, STX16-NPEPL1 2 0 69 8 54 0 0 131
CLDN16 28 13 64 8 18 0 2 125
EVC2, LOC126806961 11 12 33 63 11 0 0 123
AQP2, AQP5 15 10 61 10 29 0 1 120
AVPR2 34 25 20 15 26 0 2 114
SLC22A12 9 3 75 13 15 0 0 111
CNNM2 20 8 38 16 32 0 0 109
SCNN1A 14 6 63 14 13 0 0 104
CLCNKB, LOC106501713 28 11 22 19 25 0 0 99
SLC2A9 10 7 38 13 40 3 0 98
BSND 14 5 51 29 13 0 0 97
KCNJ1 17 23 55 6 4 0 0 96
SCNN1B 10 2 58 16 6 0 0 91
CLDN19 9 7 61 2 13 0 0 90
CEP290, RLIG1 20 6 38 30 1 0 0 88
KLHL3 0 0 48 26 12 0 0 86
SCNN1G 3 2 43 11 28 0 0 85
IFT172, LOC126806174 6 2 30 40 2 0 0 77
LOC129937586, NPHP3, NPHP3-ACAD11 4 0 40 32 3 0 0 75
ATP6V0A4 21 11 32 11 1 0 0 73
CUL3 0 1 28 28 16 0 0 73
SARS2 3 2 48 12 8 0 1 73
PREPL, SLC3A1 22 8 34 13 3 0 0 70
HNF4A 3 5 31 11 1 0 0 51
AKT3, SDCCAG8 1 1 23 23 2 0 0 49
GATM 5 2 26 13 2 0 1 47
SLC34A1 2 5 21 13 4 0 0 45
IFT43 3 4 25 12 3 0 1 44
AQP2 9 6 16 8 6 0 0 40
CEP290, LOC129390514 2 2 12 19 1 0 0 36
REN 2 0 16 6 13 0 0 36
CLCN5, LOC126863258 12 6 13 0 2 0 6 35
DCDC2 6 4 11 6 4 0 0 31
ATP1A1 5 2 7 0 13 0 0 27
FXYD2, FXYD6-FXYD2 1 0 6 7 15 0 0 26
EVC, LOC129992144 6 11 5 6 0 0 0 25
LOC126862361, SLC12A3 5 2 13 1 3 0 0 22
MAPKBP1 7 3 9 2 1 0 0 22
TRAF3IP1 10 5 7 2 1 0 0 21
CLCNKA, LOC106501712 2 1 6 1 10 0 0 20
LOC126806306, NPHP1 6 1 6 6 1 0 0 20
KIAA0753 6 2 0 3 9 0 0 19
LOC130064387, SARS2 0 1 15 1 2 0 1 19
DYNC2LI1 11 2 5 0 1 0 0 18
MAGED2 7 1 4 1 4 0 0 17
ANKS6, LOC124310614 0 0 6 8 3 0 0 16
EVC2, LOC126806962 0 1 3 12 0 0 0 16
EVC, EVC2 9 0 2 4 3 0 0 15
IFT122, LOC126806810 0 1 6 8 2 0 0 14
SLC30A9 3 5 2 0 6 0 0 14
CLCNKB 7 0 2 1 1 0 0 11
EGF, LOC126807134 0 0 6 1 4 0 0 11
EHHADH 1 1 7 2 0 0 0 11
IFT80 5 1 5 0 0 0 0 11
IFT81 7 5 3 0 0 0 0 11
LOC107548112, REN 2 3 2 1 4 0 0 11
IFT52 6 1 3 0 1 0 0 10
LOC126862123, SLC12A1 4 2 5 0 0 0 0 10
CASR 4 0 1 0 0 0 4 9
INTU 2 4 2 2 2 0 0 9
LOC113875008, OCRL 0 0 1 8 0 0 0 9
LOC129993215, NR3C2 0 0 6 2 1 0 0 9
CLDN10 6 2 1 0 0 0 0 8
LTBR, SCNN1A 0 0 2 4 2 0 0 8
LOC129933186, WDR35 0 0 4 2 1 0 0 7
CTXN2, SLC12A1 2 2 2 0 0 0 0 6
IFT122, LOC129937552 1 0 3 2 1 0 1 6
NDUFAF6 1 0 1 2 3 0 0 6
DYNC2I1, LOC129999765 0 0 1 4 0 0 0 5
LOC126807073, SLC4A4 1 0 3 0 1 0 0 5
NPHP3 3 0 2 0 0 0 0 5
ABCG5, DYNC2LI1 1 2 1 0 0 0 0 4
CEP170, SDCCAG8 3 0 1 0 0 0 0 4
CPLANE1 0 1 3 0 0 0 0 4
DCDC2, KAAG1 1 1 2 0 0 0 0 4
DYNLT2B, TM4SF19-DYNLT2B 2 0 1 0 1 0 0 4
LOC129929213, NPHP4 0 0 4 1 0 0 0 4
LOC129993365, NEK1 0 0 3 1 0 0 0 4
LOC130060573, NEK8 0 0 0 3 2 0 0 4
MALL, NPHP1 2 0 1 0 1 0 0 4
RPGRIP1L 0 0 3 0 0 0 1 4
DYNLT2B 2 1 0 0 0 0 0 3
GATM, LOC130056991 0 0 1 2 0 0 0 3
GRK2 1 2 0 0 0 0 0 3
IFT74 0 3 2 0 0 0 0 3
INTU, LOC126807151 0 3 1 0 0 0 0 3
SLC41A1 1 0 0 2 0 0 0 3
ADAMTS9 0 2 0 0 0 0 0 2
ADCY7, BRD7, CNEP1R1, CYLD, HEATR3, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423 0 0 2 0 0 0 0 2
AHI1 2 0 0 0 0 0 0 2
C12orf50, CEP290, RLIG1 2 0 0 0 0 0 0 2
C2CD3 0 0 2 0 0 0 0 2
CBR4, NEK1, PALLD, SH3RF1 1 0 1 0 0 0 0 2
CC2D2A 0 0 2 0 0 0 0 2
CLCNKA 0 0 2 0 0 0 0 2
CNNM2, LOC130004628 0 0 1 0 1 0 0 2
DYNC1H1 0 1 1 0 0 0 0 2
DYNC2I2, LOC126860772, SPTAN1 1 0 1 0 0 0 0 2
DYNC2I2, SPTAN1 1 1 1 0 0 0 0 2
EVC, LOC129992148 0 0 1 1 0 0 0 2
FUZ 1 2 1 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 0 2
INVS, LOC130002251 0 0 1 0 1 0 0 2
LBR 2 2 0 0 0 0 0 2
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 2 0 0 0 0 0 0 2
LOC129937587, NPHP3, NPHP3-ACAD11 0 0 1 0 1 0 0 2
LOC129992244, SLC2A9 0 0 0 1 2 0 0 2
LOC129993367, NEK1 0 0 0 0 2 0 0 2
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 0 2
LOC130060567, NEK8 0 0 0 2 0 0 0 2
LOC130060569, NEK8 0 0 0 2 0 0 0 2
MATN3, WDR35, WDR35-DT 0 0 0 0 2 0 0 2
MKKS 2 0 0 0 0 0 0 2
MT-TF 1 0 1 0 0 0 0 2
RAB34 0 2 0 0 0 0 0 2
RMND1 2 0 0 0 0 0 0 2
SCNN1A, TNFRSF1A 0 0 0 1 1 0 0 2
ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 0 0 0 0 1
ACAD11, ACKR4, DNAJC13, NPHP3, UBA5 0 0 1 0 0 0 0 1
ACTRT1, DCAF12L1, LOC113875008, LOC121627978, LOC121853067, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 1
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 0 0 1
ADSS2, AKT3, CATSPERE, CEP170, COX20, DESI2, HNRNPU, SDCCAG8, SPMIP3, ZBTB18 0 0 1 0 0 0 0 1
AJAP1, NPHP4 0 0 1 0 0 0 0 1
AKT3, AKT3-IT1, CEP170, LINC01347, LOC110120698, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388799, MIR4677, PLD5, SDCCAG8 1 0 0 0 0 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 1 0 0 0 0 0 0 1
ANGPTL5, BIRC2, BIRC3, CEP126, CFAP300, DCUN1D5, DYNC2H1, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, TMEM123, TRPC6, YAP1 1 0 0 0 0 0 0 1
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, DECR2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, IFT140, JMJD8, LMF1, LUC7L, MCRIP2, METRN, METTL26, MRPL28, MSLN, NHLRC4, NME4, PDIA2, PGAP6, PIGQ, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1 1 0 0 0 0 0 0 1
APLN, OCRL, SASH3, XPNPEP2, ZDHHC9 0 0 1 0 0 0 0 1
APOA1, APOA4, APOA5, APOC3, BACE1, CEP164, DSCAML1, FXYD2, FXYD6, FXYD6-FXYD2, IL10RA, PAFAH1B2, PCSK7, RNF214, SIDT2, SIK3, TAGLN, TMPRSS13 1 0 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 0 1
ATP1A2, IGSF8, KCNJ10, KCNJ9 0 0 1 0 0 0 0 1
ATP6V0A4, LOC129389889 1 0 0 0 0 0 0 1
ATP6V1B1 0 0 1 0 0 0 0 1
B9D1 0 0 1 0 0 0 0 1
BBS10 1 0 0 0 0 0 0 1
BFSP2, NPHP3, TMEM108, UBA5 1 0 0 0 0 0 0 1
BSND, LOC129930596 0 0 0 0 1 0 0 1
C12orf50, CEP290, KITLG, RLIG1, TMTC3 1 0 0 0 0 0 0 1
CACNG2-DT, IFT27 1 0 0 0 0 0 0 1
CACNG2-DT, IFT27, LOC126863139 1 0 0 0 0 0 0 1
CCDC39 0 0 1 0 0 0 0 1
CENPF 0 1 0 0 0 0 0 1
CEP164, DSCAML1 0 0 1 0 0 0 0 1
CEP290, LOC129390514, LOC130008346, RLIG1 1 0 0 0 0 0 0 1
CEP83, PLXNC1 0 0 1 0 0 0 0 1
CEP89, SLC7A9 0 1 0 0 0 0 0 1
CHADL, EP300, L3MBTL2, LOC112695097, LOC125446243, LOC126863158, LOC130067524, LOC130067525, LOC130067526, LOC130067527, LOC130067528, LOC130067529, LOC130067530, LOC130067531, LOC130067532, LOC130067533, LOC130067534, LOC130067535, LOC130067536, LOC130067537, MIR1281, MIR6889, RANGAP1, RBX1, SNORD140, XPNPEP3, ZC3H7B 0 0 1 0 0 0 0 1
CILK1 1 0 0 0 0 0 0 1
CLCN5, LOC126863258, LOC130068287, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 0 0 0 0 1
CLCN7, IFT140, PTX4, TELO2 0 0 1 0 0 0 0 1
CLCNKB, FAM131C 1 0 0 0 0 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 0 0 0 0 0 1
DCLK2, NR3C2 0 1 0 0 0 0 0 1
DYNLT2B, LOC129938285, TM4SF19-DYNLT2B 0 0 1 0 0 0 0 1
EGF, LOC129992959 0 0 1 0 0 0 0 1
ERP44, INVS 0 1 0 0 0 0 0 1
EVC2, LINC01587, STK32B 1 0 0 0 0 0 0 1
F12, SLC34A1 0 0 0 1 0 0 0 1
FAM186B 0 1 0 0 0 0 0 1
FAM98C 0 1 0 0 0 0 0 1
FLVCR1, LOC129932486 0 1 0 0 0 0 0 1
FNDC4, GCKR, IFT172 0 0 1 0 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 0 1
GHSR 0 0 1 0 0 0 0 1
GNAS, LOC130066270 0 1 0 0 0 0 0 1
GOLGB1, IQCB1 1 0 0 0 0 0 0 1
IDUA 0 1 0 0 0 0 0 1
IFT122, MBD4 0 0 1 0 0 0 0 1
IFT122, MBD4, RHO 0 0 1 0 0 0 0 1
IFT140, PTX4, TELO2 0 0 1 0 0 0 0 1
IFT140, TELO2 1 0 0 0 0 0 0 1
IFT140, TMEM204 0 0 1 0 0 0 0 1
IFT88 0 1 1 0 0 0 0 1
INCENP 0 1 0 0 0 0 0 1
INPP5B 0 1 0 0 0 0 0 1
INTU, LOC123480930 1 0 0 0 0 0 0 1
KAT6B 0 0 1 0 0 0 0 1
KCNAB2, NPHP4 0 0 1 0 0 0 0 1
KIF24 1 0 0 0 0 0 0 1
KIF7 0 0 0 1 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 0 0 1
LOC113788297, NDUFAF6 0 0 0 1 0 0 0 1
LOC126805821, SARS1 0 0 0 1 0 0 0 1
LOC126806305, LOC126806306, MALL, NPHP1 1 0 0 0 0 0 0 1
LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 0 0 0 1
LOC126806970, LOC129992239, SLC2A9 1 0 0 0 0 0 0 1
LOC128092252, TRPM7 1 0 0 0 0 0 0 1
LOC129935046, TTC21B 0 0 0 0 1 0 0 1
LOC129992668, SLC4A4 0 0 1 0 0 0 0 1
LOC129993366, NEK1 0 0 1 0 0 0 0 1
LOC129996828, RRAGD 0 1 0 0 0 0 0 1
LOC130060574, NEK8 0 0 0 1 0 0 0 1
LOC130067533, LOC130067534, LOC130067535, LOC130067536, RANGAP1 1 0 0 0 0 0 0 1
MATN3, WDR35 0 0 0 1 1 0 0 1
MMP2 0 1 0 0 0 0 0 1
NIPBL 0 0 1 0 0 0 0 1
NPHP3, UBA5 0 0 1 0 0 0 0 1
PIAS1 0 1 0 0 0 0 0 1
PTH1R 0 1 0 0 0 0 0 1
RBM48 0 1 0 0 0 0 0 1
RRAGD 1 0 0 0 0 0 0 1
SARS1 0 0 0 1 0 0 0 1
SLC17A5 0 0 1 0 0 0 0 1
SLTM 0 1 0 0 0 0 0 1
SPAG17 0 1 0 0 0 0 0 1
SRGAP1 0 0 1 0 0 0 0 1
STX16 1 0 0 0 0 0 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 0 1
TRPM7 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 239
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2241 587 9593 12464 1325 0 0 26210
Illumina Laboratory Services, Illumina 23 18 3374 516 1017 0 0 4904
Fulgent Genetics, Fulgent Genetics 247 240 1878 905 56 0 0 3326
OMIM 564 0 1 0 0 3 0 568
Genome-Nilou Lab 28 20 33 25 384 0 0 490
Natera, Inc. 68 22 118 83 65 0 0 356
University of Washington Center for Mendelian Genomics, University of Washington 1 222 0 0 0 0 0 223
Baylor Genetics 70 45 102 0 0 0 0 217
Dan Cohn Lab, University Of California Los Angeles 183 10 20 0 0 0 0 212
Revvity Omics, Revvity 40 34 113 1 0 0 0 188
Counsyl 16 80 54 2 0 0 0 152
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 39 49 55 3 1 0 0 144
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 77 18 37 0 0 0 0 132
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 64 56 0 1 0 0 2 123
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 5 37 23 50 0 0 119
3billion 51 25 27 9 0 0 0 112
Neuberg Centre For Genomic Medicine, NCGM 14 35 57 0 0 0 0 106
Myriad Genetics, Inc. 1 91 1 0 0 0 0 93
Mendelics 29 11 11 3 27 0 0 81
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 38 25 13 4 0 0 0 80
Juno Genomics, Hangzhou Juno Genomics, Inc 33 25 20 0 0 0 0 78
New York Genome Center 3 8 59 0 0 0 0 70
Sydney Genome Diagnostics, Children's Hospital Westmead 27 16 26 1 0 0 0 70
GeneReviews 13 0 0 0 0 0 50 63
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 29 33 0 0 0 0 0 62
MVZ Medizinische Genetik Mainz 10 16 33 0 0 0 0 59
Molecular Biology Laboratory, Fundació Puigvert 29 26 0 0 0 0 0 55
Rare Disease Group, Clinical Genetics, Karolinska Institutet 16 10 23 0 0 0 0 49
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 6 25 1 1 0 0 42
Johns Hopkins Genomics, Johns Hopkins University 9 10 19 2 2 0 0 42
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 14 15 8 0 0 0 0 37
UniProtKB/Swiss-Prot 0 0 0 0 0 0 35 35
Institute of Human Genetics, University of Leipzig Medical Center 7 11 17 0 0 0 0 35
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 30 1 0 0 0 0 0 31
Pars Genome Lab 1 0 0 2 28 0 0 31
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 10 17 0 0 28
Precision Medicine Center, Zhengzhou University 8 7 12 0 0 0 0 27
MGZ Medical Genetics Center 6 11 7 0 0 0 0 24
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 6 6 9 0 3 0 0 24
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 15 3 5 0 0 0 0 23
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 11 1 0 0 0 0 22
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 18 0 0 0 0 21
Yale Center for Mendelian Genomics, Yale University 6 14 0 0 0 0 0 20
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 12 0 0 0 0 0 19
Genetics of Obesity Study, University of Cambridge 19 0 0 0 0 0 0 19
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 6 6 0 0 0 0 18
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 9 2 5 0 0 0 0 16
Institute of Human Genetics, Cologne University 6 4 5 0 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 15 0 0 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 7 3 0 0 0 0 14
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 10 2 0 0 0 0 14
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 14 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 4 3 0 0 0 0 13
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 4 8 0 0 0 0 13
SIB Swiss Institute of Bioinformatics 1 10 2 0 0 0 0 13
Athena Diagnostics 0 0 0 0 12 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 6 1 0 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 5 0 0 0 0 0 12
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 5 4 2 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 0 11 11
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 11 0 0 0 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 3 4 0 0 0 0 11
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 6 1 1 0 0 11
Physiology, Radboud University Medical Center 9 0 1 0 1 0 0 11
Molecular Genetics, Royal Melbourne Hospital 1 3 4 1 2 0 0 11
Centogene AG - the Rare Disease Company 5 3 2 0 0 0 0 10
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 2 1 0 0 0 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 3 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 2 6 2 0 0 0 0 10
Suma Genomics 6 2 2 0 0 0 0 10
DASA 6 4 0 0 0 0 0 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 7 0 1 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 6 1 0 0 0 0 9
Ocular Genomics Institute, Massachusetts Eye and Ear 4 1 4 0 0 0 0 9
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 5 0 0 0 0 0 9
Department of Urology, Hunan Children's Hospital 0 4 5 0 0 0 0 9
Molecular Physiology Group, Radboudumc 5 1 0 3 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 7 0 0 8
Undiagnosed Diseases Network, NIH 5 1 2 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 5 2 0 0 0 0 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 7 0 0 0 0 7
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 7 0 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 5 0 0 0 0 7
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 4 2 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 4 2 1 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 3 1 0 0 0 0 7
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 5 0 0 1 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 1 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 1 0 0 0 0 6
Reproductive Health Research and Development, BGI Genomics 3 1 2 0 0 0 0 6
Genomics England Pilot Project, Genomics England 3 3 0 0 0 0 0 6
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 2 4 0 0 0 0 0 6
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 2 3 0 0 0 0 5
David Geffen School of Medicine, University of California, Los Angeles 5 0 0 0 0 0 0 5
Sharon lab, Hadassah-Hebrew University Medical Center 4 1 0 0 0 0 0 5
College of Medicine Research Centre, King Saud Univeristy 1 2 2 0 0 0 0 5
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 3 1 0 0 0 0 5
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 4 0 0 0 0 5
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 3 1 0 0 0 0 5
Eurofins-Biomnis 2 3 0 0 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 2 0 0 0 0 4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 3 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 2 0 0 0 0 4
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 4 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 0 3 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 1 0 0 0 4
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 2 0 0 0 0 0 4
Genomics And Bioinformatics Analysis Resource, Columbia University 2 2 0 0 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 3 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 0 0 0 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 2 1 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 0 3
Department of Molecular and Human Genetics, Baylor College of Medicine 3 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 1 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 2 0 0 0 0 3
Biotechnology Lab, University of Central Punjab 2 0 0 0 1 0 0 3
Dr.Nikuei Genetic Center 3 0 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 0 2
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 0 2
Care4Rare-SOLVE, CHEO 0 2 0 0 0 0 0 2
Department Of Medical Genetics, Faculty Of Medicine, Ege University 0 2 0 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 2 0 0 0 0 0 2
Department of Endocrinology, Sir Run Run Shaw Hospital 0 2 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 0 2
Cancer Diagnostics Division, Gene Solutions 2 0 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 0 0 2
Breda Genetics srl 0 1 1 0 0 0 0 2
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 1 0 0 0 0 2
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 2 0 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 1 0 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 2 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 2 0 0 0 0 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana, FISABIO Oftalmología Médica 2 0 0 0 0 0 0 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 0 2 0 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 2
Sayer Lab, Translational and Clinical Research Institute, Newcastle Unversity 1 1 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 1 0 0 0 0 2
Department of Pediatric Nephropathy, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology 2 0 0 0 0 0 0 2
Molecular and Bioinformatics Technologies Lab, AOU Meyer 0 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 1 0 0 0 0 2
Arcensus 0 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 0 2
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 2 0 0 0 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 0 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 1
Biochimie Génétique et moléculaire, CHUGA 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 1 0 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab), Kobe University Graduate School of Medicine 1 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 0 1
Cormier-Daire Lab, IMAGINE 1 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 1
Department of Pediatric Endocrinology, Cukurova University Medical Faculty 0 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 1 0 0 0 0 1
Department of Pediatrics, University Hospital Center Zagreb 1 0 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 1
Department of Endocrinology, Chinese PLA General Hospital 0 1 0 0 0 0 0 1
Molecular Genetics, Georges Pompidou European Hospital 1 0 0 0 0 0 0 1
Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People’s Hospital 0 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 1
Akhavan-Niaki Genetics Laboratory, Babol University of Medical Sciences 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 1 0 0 0 0 0 0 1
Ben Taub Pediatrics - Newborn, Baylor College of Medicine 0 1 0 0 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 0 0 1
Translational Genomics Group, Broad institute of MIT and Harvard 0 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 1
Vascular Genetix 1 0 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 1
Reproductive Medicine Center, Renmin Hospital, Hubei University Of Medicine 1 0 0 0 0 0 0 1
Pediatric Department, King Faisal Specialist Hospital And Research Center 1 0 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 1 0 0 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 0 0 0 1
Department of Diabetes and Endocrinology, Second Affiliated Hospital of Dalian Medical University 0 1 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 0 1
Department of Neurology, The First Affiliated Hospital of Guangdong Pharmaceutical University 0 0 1 0 0 0 0 1

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