ClinVar Miner

Variants studied for endocrine gland neoplasm

Included ClinVar conditions (152):
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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 likely risk allele risk factor other not provided total
1398 1031 6785 4249 478 2 1 16 102 13518

Gene and significance breakdown #

Total genes and gene combinations: 220
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor other not provided total
RET 83 43 1599 1138 108 0 0 0 7 2817
SDHA 159 87 1248 810 53 0 0 0 9 2304
MEN1 352 116 910 679 53 0 0 0 7 2007
CDC73 102 22 566 592 42 0 0 0 6 1285
SDHB 170 70 515 318 20 0 0 0 1 1060
SDHC 61 27 333 209 7 0 0 0 0 628
SDHD 77 28 264 147 12 0 0 0 0 517
CDH23 46 145 108 12 11 0 0 0 0 319
TP53 59 201 76 5 2 0 0 0 0 314
CASR 21 11 112 32 19 0 0 0 4 198
TMEM127 7 19 114 15 26 0 0 0 0 171
KL 1 1 97 24 24 0 0 0 1 146
AIP 9 9 63 11 15 0 0 0 49 137
APC 18 2 69 10 3 0 0 0 0 102
LOC126861339, SDHD 18 4 43 34 2 0 0 0 0 98
FGF23 7 2 52 12 13 0 0 0 1 82
GALNT3 17 4 45 5 11 0 0 0 0 80
MAX 0 1 45 9 19 0 0 0 0 71
SDHAF2 4 12 48 4 1 0 0 0 2 69
HNF1A 6 4 33 16 1 0 0 0 0 60
LOC129929542, SDHB 6 1 27 26 0 0 0 0 0 60
GNAS 12 3 11 33 2 0 0 0 0 58
CLCN2 6 4 17 21 2 0 0 0 0 50
KIF1B 0 1 37 4 6 0 0 0 0 48
LOC106736614, RET 0 0 36 9 2 0 0 0 0 46
VHL 3 3 28 2 0 0 0 0 0 36
C10orf105, CDH23 7 15 9 0 2 0 0 0 0 33
PIK3CA 5 28 4 0 0 0 0 0 0 33
AIP, LOC130006206 0 0 20 1 4 0 0 0 9 31
CTNNB1, LOC126806658 6 28 0 1 0 0 0 2 0 31
LOC129934333, TMEM127 1 5 23 0 3 0 0 0 1 31
HRAS, LRRC56 10 11 8 4 0 0 0 0 0 29
MET 3 0 24 1 0 0 0 0 0 28
LOC107303340, VHL 4 4 15 4 0 0 0 0 0 27
SAMD9 2 3 14 7 0 0 0 0 0 26
GCM2 2 3 13 6 0 0 0 0 0 23
KRAS 13 5 0 0 0 0 0 0 0 17
LOC130003710, RET 0 0 4 14 0 0 0 0 0 17
NTRK1 2 1 14 0 0 0 0 0 0 17
ALK 0 0 12 2 0 0 0 0 0 14
LOC129929541, SDHB 3 0 1 9 0 0 0 0 0 13
RB1 4 1 7 1 0 0 0 0 0 13
LOC130055850, MAX 0 0 5 1 5 0 0 0 0 11
KIT 9 0 0 0 0 0 0 0 0 9
B3GALT2, CDC73 2 0 5 1 0 0 0 0 0 8
BRAF 2 6 0 0 0 0 0 0 1 7
CDH23, LOC111982869 3 3 1 0 0 0 0 0 0 7
PTEN 2 4 1 0 0 0 0 0 0 7
CTNNB1 2 0 1 3 0 0 0 0 0 6
CTNNB1, LOC126806659 3 1 1 1 0 0 0 0 0 6
DICER1 6 0 0 0 0 0 0 0 0 6
NRAS 1 5 1 0 0 0 0 0 0 6
SRGAP1 2 0 2 1 0 0 1 0 0 6
USP8 5 0 1 0 0 0 0 0 0 6
AXIN1 1 0 2 2 0 0 0 0 0 5
B2M 0 5 0 0 0 0 0 0 0 5
CDKN2A 0 4 0 0 1 0 0 0 0 5
FBXW7 0 5 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 5
SF3B1 0 5 0 0 0 0 0 0 0 5
SLC25A11 5 0 0 0 0 0 0 0 0 5
TERT 3 0 2 0 0 0 0 0 0 5
ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B 3 0 1 0 0 0 0 0 0 4
ATM, C11orf65 0 0 4 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 4
GNAI2 3 0 1 0 0 0 0 0 0 4
HABP2 0 0 2 2 0 0 0 0 0 4
IDH2 0 4 0 0 0 0 0 0 0 4
LOC110121502, MCS+9.7, RET 0 0 0 1 3 0 0 0 0 4
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 0 0 0 4
MAP4K2, MEN1 4 0 0 0 0 0 0 0 0 4
NFE2L2 0 4 0 0 0 0 0 0 0 4
PKD1 0 0 1 2 1 0 0 0 0 4
STK11 0 0 3 1 0 0 0 0 0 4
ATM 0 0 2 0 1 0 0 0 0 3
ATP1A1 3 0 0 0 0 0 0 0 0 3
ATP2B3 3 0 0 0 0 0 0 0 0 3
BCOR 0 3 0 0 0 0 0 0 0 3
CASP8 1 0 1 1 0 0 0 0 0 3
CDKN1B 0 3 0 0 0 0 0 0 0 3
DOCK8 0 0 3 0 0 0 0 0 0 3
IGF2R 2 0 1 0 0 0 0 0 0 3
INSRR, NTRK1 0 0 3 0 0 0 0 0 0 3
LOC130064074, NDUFA13 1 2 0 0 0 0 0 0 0 3
MINPP1 3 0 0 0 0 0 0 0 0 3
RAD50 0 3 0 0 0 0 0 0 0 3
VDR 0 1 0 0 0 2 0 0 0 3
​intergenic 2 0 0 0 0 0 0 0 0 2
ATRX 0 0 2 0 0 0 0 0 0 2
B3GALT2, CDC73, LOC129932147, MIR1278 1 0 1 0 0 0 0 0 0 2
BAP1 0 0 2 0 0 0 0 0 0 2
BARD1 0 1 1 0 0 0 0 0 0 2
BRCA2 0 1 1 0 0 0 0 0 0 2
C12orf43, HNF1A 0 0 2 0 0 0 0 0 0 2
CDC73, LOC129932147 0 1 1 0 0 0 0 0 0 2
CFAP126, SDHC 1 0 0 0 1 0 0 0 0 2
CNOT9 0 2 0 0 0 0 0 0 0 2
COL7A1 0 1 1 0 0 0 0 0 0 2
DHCR7 0 1 1 0 0 0 0 0 0 2
DLST 1 0 1 0 0 0 0 0 0 2
FANCM 0 0 2 0 0 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 0 0 2
FH 0 1 1 0 0 0 0 0 0 2
FOXE1 1 0 0 1 0 0 0 0 0 2
GLI3 0 0 2 0 0 0 0 0 0 2
GPR101 2 0 1 0 0 0 0 0 2 2
IGF2R, LOC129997612 0 1 1 0 0 0 0 0 0 2
KIF1B, LOC126805614 0 0 2 0 0 0 0 0 0 2
KIF1B, LOC129388446 0 0 1 1 0 0 0 0 0 2
LOC100506321, MAX 1 0 1 0 0 0 0 0 0 2
LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET 0 0 2 0 0 0 0 0 0 2
LOC129929542, LOC129929543, SDHB 2 0 0 0 0 0 0 0 0 2
MLH1 0 0 1 0 1 0 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 0 0 0 2
MSH2 0 1 1 0 0 0 0 0 0 2
MSH6 0 0 2 0 0 0 0 0 0 2
NKX2-1, SFTA3 1 0 1 0 0 0 0 0 0 2
NOTCH1 0 2 0 0 0 0 0 0 0 2
PALB2 0 0 2 0 0 0 0 0 0 2
PMS2 0 2 0 0 0 0 0 0 0 2
RINT1 0 2 0 0 0 0 0 0 0 2
RXRA 0 2 0 0 0 0 0 0 0 2
A2ML1, ACRBP, ACSM4, ADIPOR2, AICDA, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FAM138D, FAM66C, FAM90A1, FBXL14, FERRY3, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, KLRG1, LAG3, LINC00937, LINC00940, LINC00942, LINC02371, LINC02417, LINC02443, LINC02449, LINC02455, LINC02827, LINC02972, LOC100128253, LOC100507560, LOC102723544, LOC105369595, LOC105369617, LOC105369632, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108942766, LOC109461484, LOC112136100, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121832825, LOC121832826, LOC124625876, LOC124625877, LOC124625878, LOC124625879, LOC124625880, LOC124625881, LOC124625882, LOC124625883, LOC124625884, LOC124625885, LOC124625886, LOC124625887, LOC124625889, LOC124625890, LOC124625892, LOC124625893, LOC124625895, LOC124625896, LOC124625897, LOC124625898, LOC124625899, LOC124625900, LOC124906977, LOC126861410, LOC126861411, LOC126861412, LOC126861413, LOC126861414, LOC126861415, LOC126861416, LOC126861417, LOC126861418, LOC126861419, LOC126861420, LOC126861421, LOC126861422, LOC126861423, LOC126861424, LOC126861425, LOC126861426, LOC126861427, LOC126861428, LOC126861429, LOC126861430, LOC126861431, LOC126861432, LOC126861433, LOC126861434, LOC126861435, LOC126861436, LOC126861437, LOC126861438, LOC126861439, LOC126861440, LOC126861441, LOC126861442, LOC126861443, LOC126861444, LOC129390385, LOC129390386, LOC129390387, LOC129390388, LOC129390389, LOC129390390, LOC129390391, LOC129390392, LOC129390393, LOC129390394, LOC129390395, LOC130007132, LOC130007133, LOC130007134, LOC130007135, LOC130007136, LOC130007137, LOC130007138, LOC130007139, LOC130007140, LOC130007141, LOC130007142, LOC130007143, LOC130007144, LOC130007145, LOC130007146, LOC130007147, LOC130007148, LOC130007149, LOC130007150, LOC130007151, LOC130007152, LOC130007153, LOC130007154, LOC130007155, LOC130007156, LOC130007157, LOC130007158, LOC130007159, LOC130007160, LOC130007161, LOC130007162, LOC130007163, LOC130007164, LOC130007165, LOC130007166, LOC130007167, LOC130007168, LOC130007169, LOC130007170, LOC130007171, LOC130007172, LOC130007173, LOC130007174, LOC130007175, LOC130007176, LOC130007177, LOC130007178, LOC130007179, LOC130007180, LOC130007181, LOC130007182, LOC130007183, LOC130007184, LOC130007185, LOC130007186, LOC130007187, LOC130007188, LOC130007189, LOC130007190, LOC130007191, LOC130007192, LOC130007193, LOC130007194, LOC130007195, LOC130007196, LOC130007197, LOC130007198, LOC130007199, LOC130007200, LOC130007201, LOC130007202, LOC130007203, LOC130007204, LOC130007205, LOC130007206, LOC130007207, LOC130007208, LOC130007209, LOC130007210, LOC130007211, LOC130007212, LOC130007213, LOC130007214, LOC130007215, LOC130007216, LOC130007217, LOC130007218, LOC130007219, LOC130007220, LOC130007221, LOC130007222, LOC130007223, LOC130007224, LOC130007225, LOC130007226, LOC130007227, LOC130007228, LOC130007229, LOC130007230, LOC130007231, LOC130007232, LOC130007233, LOC130007234, LOC130007235, LOC130007236, LOC130007237, LOC130007238, LOC130007239, LOC130007240, LOC130007241, LOC130007242, LOC130007243, LOC130007244, LOC130007245, LOC130007246, LOC130007247, LOC130007248, LOC130007249, LOC130007250, LOC130007251, LOC130007252, LOC130007253, LOC130007254, LOC130007255, LOC130007256, LOC130007257, LOC130007258, LOC130007259, LOC130007260, LOC130007261, LOC130007262, LOC130007263, LOC130007264, LOC130007265, LOC130007266, LOC130007267, LOC130007268, LOC130007269, LOC130007270, LOC130007271, LOC130007272, LOC130007273, LOC130007274, LOC130007275, LOC130007276, LOC130007277, LOC130007278, LOC130007279, LOC130007280, LOC130007281, LOC130007282, LOC130007283, LOC130007284, LOC130007285, LOC130007286, LOC130007287, LOC130007288, LOC130007289, LOC130007290, LOC130007291, LOC130007292, LOC130007293, LOC130007294, LOC130007295, LOC130007296, LOC130007297, LOC130007298, LOC130007299, LOC130007300, LOC130007301, LOC130007302, LOC130007303, LOC130007304, LOC130007305, LOC130007306, LOC130007307, LOC130007308, LOC130007309, LOC130007310, LOC130007311, LOC130007312, LOC130007313, LOC130007314, LOC130007315, LOC130007316, LOC130007317, LOC130007318, LOC130007319, LOC130007320, LOC130007321, LOC130007322, LOC130007323, LOC130007324, LOC130007325, LOC130007326, LOC130007327, LOC130007328, LOC130007329, LOC130007330, LOC130007331, LOC130007332, LOC130007333, LOC130007334, LOC130007335, LOC130007336, LOC130007337, LOC130007338, LOC130007339, LOC132090142, LOC574538, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, M6PR, MFAP5, MIR141, MIR200C, MIR200CHG, MIR3649, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PHC1, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SNORA120, SPSB2, TAPBPL, TEAD4, TEX52, THCAT155, TIGAR, TNFRSF1A, TPI1, TSPAN9, TSPAN9-IT1, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 0 0 0 0 0 0 0 0 1 1
ABCB10, ABL2, ACBD3, ACBD6, ACKR1, ACP6, ACTA1, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, BGLAP, BLZF1, BNIPL, BOLA1, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, C1orf116, C1orf131, C1orf198, C1orf21, C1orf226, C1orf35, C1orf43, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DYRK3, ECM1, EDARADD, EDEM3, EFCAB2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, ELF3, ELK4, ENAH, ENSA, ENTREP3, EPHX1, EPRS1, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GABPB2, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IGFN1, IGSF8, IGSF9, IKBKE, IL10, IL19, IL20, IL24, IL6R, ILDR2, ILF2, INAVA, INSRR, INTS3, INTS7, IPO9, IQGAP3, IRF2BP2, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LGR6, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LIX1L, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LPGAT1, LRRC52, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, MRPS21, MSTO1, MT1HL1, MTARC1, MTARC2, MTMR11, MTR, MTX1, MUC1, MYBPH, MYOC, MYOG, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PEAR1, PEX11B, PEX19, PFDN2, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PI4KB, PIAS3, PIGC, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, PTPN7, PTPRC, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, RABGAP1L, RABIF, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCCPDH, SCNM1, SCYL3, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNRPE, SNX27, SOAT1, SOX13, SPATA17, SPATA45, SPATA46, SPHAR, SPMIP3, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TMEM63A, TMEM79, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18, ZBTB37, ZBTB41, ZBTB7B, ZC3H11A, ZNF124, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, ZNF687, ZNF695, ZP4 0 0 1 0 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LOC101928372, LOC112543491, LOC122128457, LOC122128458, LOC122128459, LOC126805893, LOC126805894, LOC129388615, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LY9, MIR5187, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LY9, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 0 0 0 1
ADRA2B, ASTL, DUSP2, GPAT2, STARD7, TMEM127 0 0 1 0 0 0 0 0 0 1
AIP, LOC130006204 0 1 0 0 0 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 0 1
ALK, ARHGEF33, ATL2, BIRC6, CAPN13, CAPN14, CDC42EP3, CDKL4, CEBPZ, CRIM1, CYP1B1, DHX57, DPY30, EHD3, EIF2AK2, EML4, FAM98A, FEZ2, GALM, GALNT14, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, LBH, LCLAT1, LINC02898, LTBP1, MAP4K3, MEMO1, MORN2, NDUFAF7, NLRC4, PKDCC, PRKD3, QPCT, RASGRP3, RMDN2, SLC30A6, SLC8A1, SOS1, SOS1-IT1, SPAST, SRD5A2, SRSF7, STRN, SULT6B1, THUMPD2, TMEM178A, TTC27, VIT, XDH, YIPF4, YPEL5 1 0 0 0 0 0 0 0 0 1
APC, LOC129994371 0 0 1 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 0 1 0 1
ARID1B 0 0 1 0 0 0 0 0 0 1
ARID2 0 1 0 0 0 0 0 0 0 1
B3GALT2, CDC73, GLRX2, LINC01031, LINC02770, LOC111556116, LOC120893169, LOC122149332, LOC122149333, LOC122149334, LOC126805961, LOC126805962, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC132088601, LOC132088602, LOC132090670, MIR1278, MIR4426, RGS1, RGS13, RGS18, RGS2, RGS21, RO60, SCARNA18B, UCHL5 1 0 0 0 0 0 0 0 0 1
B3GALT2, CDC73, LOC129932147 0 0 1 0 0 0 0 0 0 1
BAD, CATSPERZ, CCDC88B, COX8A, DNAJC4, ESRRA, FERMT3, FKBP2, FLRT1, GPR137, KCNK4, MACROD1, MAP4K2, MEN1, NRXN2, NUDT22, OTUB1, PLCB3, PPP1R14B, PRDX5, PYGM, RASGRP2, RPS6KA4, SF1, SLC22A11, SLC22A12, STIP1, TRMT112, TRPT1, VEGFB 1 0 0 0 0 0 0 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 0 1
CDKN2C, FAF1 0 0 1 0 0 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 0 0 1
CHURC1-FNTB, FNTB, LOC126861966, MAX 0 0 0 1 0 0 0 0 0 1
CXCL8 0 0 0 0 0 0 0 1 0 1
CXCR1 0 0 0 0 0 0 0 1 0 1
DDX46 0 0 1 0 0 0 0 0 0 1
DHX32 0 0 1 0 0 0 0 0 0 1
DIS3L2 0 0 1 0 0 0 0 0 0 1
DROSHA 0 0 1 0 0 0 0 0 0 1
EGF 0 0 0 0 0 0 0 1 0 1
EGFR 0 0 0 0 0 0 0 1 0 1
EP300 0 0 1 0 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 0 0 0 1
EXT2 0 1 0 0 0 0 0 0 0 1
FAH 0 0 1 0 0 0 0 0 0 1
FANCA 0 1 0 0 0 0 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 0 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 0 0 0 0 1
FAS 0 0 1 0 0 0 0 0 0 1
FGFR2 0 0 1 0 0 0 0 0 0 1
FGFR3 0 1 0 0 0 0 0 0 0 1
FLCN 0 0 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 1
FOXL2 0 0 0 0 0 0 0 0 1 1
FRMPD1 0 0 1 0 0 0 0 0 0 1
FUS, TFCP2 0 0 1 0 0 0 0 0 0 1
GBA1, LOC106627981 0 1 0 0 0 0 0 0 0 1
GJA4 1 0 0 0 0 0 0 0 0 1
H3-3A 0 1 0 0 0 0 0 0 0 1
HIF1A 0 0 0 0 0 0 0 1 0 1
IL10, IL19 0 0 0 0 0 0 0 1 0 1
IL1B 0 0 0 0 0 0 0 1 0 1
IL6, LOC126859963 0 0 0 0 0 0 0 1 0 1
INSL6, JAK2 0 0 1 0 0 0 0 0 0 1
JAG1 0 1 0 0 0 0 0 0 0 1
JAK3 0 0 1 0 0 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 0 0 0 1
KDR 0 0 1 0 0 0 0 0 0 1
KIF1B, LOC129929363 0 0 0 1 0 0 0 0 0 1
KL, LOC130009539 0 0 1 0 0 0 0 0 0 1
KMT2A 0 0 1 0 0 0 0 0 0 1
LIG4 0 1 0 0 0 0 0 0 0 1
LOC110806263, TERT 0 1 0 0 0 0 0 0 0 1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 0 0 0 1
MECOM 0 0 1 0 0 0 0 0 0 1
MN1 0 0 0 0 0 0 0 1 0 1
MUTYH 0 0 1 0 0 0 0 0 0 1
MYB, NFIB 1 0 0 0 0 0 0 0 0 1
MYBL1, NFIB 1 0 0 0 0 0 0 0 0 1
NBN 0 1 0 0 0 0 0 0 0 1
NDRG4 0 0 1 0 0 0 0 0 0 1
NF1 1 0 0 0 0 0 0 0 0 1
NYNRIN 0 0 1 0 0 0 0 0 0 1
PACERR, PTGS2 0 0 0 0 0 0 0 1 0 1
PCM1 0 0 1 0 0 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 0 1
POLD1 0 0 0 1 0 0 0 0 0 1
PTGS2 0 0 0 0 0 0 0 1 0 1
RAD52 0 0 1 0 0 0 0 0 0 1
RECQL 0 0 1 0 0 0 0 0 0 1
RECQL4 0 1 0 0 0 0 0 0 0 1
REN 0 1 0 0 0 0 0 0 0 1
RHBDF2 0 0 1 0 0 0 0 0 0 1
RPS19 0 0 1 0 0 0 0 0 0 1
SATB1 1 0 0 0 0 0 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 0 0 0 1
SET 0 0 0 0 0 0 0 1 0 1
SF3B2 0 1 0 0 0 0 0 0 0 1
SH2B3 0 0 1 0 0 0 0 0 0 1
SLX4 0 0 1 0 0 0 0 0 0 1
SMARCA2 0 0 1 0 0 0 0 0 0 1
SMARCA4 0 0 1 0 0 0 0 0 0 1
SMARCB1 0 0 1 0 0 0 0 0 0 1
STAT3 0 0 1 0 0 0 0 0 0 1
TGFBR2 0 0 1 0 0 0 0 0 0 1
VEGFA 0 0 0 0 0 0 0 1 0 1
ZMYND11 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 151
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 944 223 5113 3818 205 0 0 0 0 10302
Fulgent Genetics, Fulgent Genetics 95 35 681 266 27 0 0 0 0 1104
Illumina Laboratory Services, Illumina 2 2 550 123 231 0 0 0 0 885
Baylor Genetics 118 214 457 0 0 0 0 0 0 789
All of Us Research Program, National Institutes of Health 12 4 488 265 6 0 0 0 0 775
Database of Curated Mutations (DoCM) 28 316 0 0 0 0 0 0 2 343
Myriad Genetics, Inc. 155 62 75 29 16 0 0 0 0 337
Counsyl 9 13 151 71 11 0 0 0 0 255
OMIM 229 0 2 0 0 0 1 0 0 232
KCCC/NGS Laboratory, Kuwait Cancer Control Center 7 3 4 34 77 0 0 0 0 125
Mendelics 10 4 68 19 15 0 0 0 0 116
Color Diagnostics, LLC DBA Color Health 16 9 13 28 41 0 0 0 0 107
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 2 86 5 0 0 0 0 0 95
GeneReviews 0 8 0 1 0 0 0 0 72 81
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 42 23 3 1 2 0 0 0 2 73
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 1 14 38 0 0 0 0 0 0 53
Genome-Nilou Lab 1 0 0 0 36 0 0 0 0 37
MGZ Medical Genetics Center 17 11 6 0 0 0 0 0 0 34
Center for Human Genetics, Inc, Center for Human Genetics, Inc 21 5 4 1 0 0 0 0 0 31
Genome Sciences Centre, British Columbia Cancer Agency 3 7 21 0 0 0 0 0 0 31
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 12 7 5 2 5 0 0 0 0 31
Genetics and Molecular Pathology, SA Pathology 6 4 9 0 9 0 0 0 0 28
Centre for Mendelian Genomics, University Medical Centre Ljubljana 10 2 15 0 0 0 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 7 4 8 2 0 0 0 0 0 21
Familial Cancer Clinic, Veneto Institute of Oncology 0 19 0 0 0 0 0 0 0 19
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 19 19
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 19 0 0 0 0 0 0 0 19
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 7 9 2 0 0 0 0 0 0 18
CSER _CC_NCGL, University of Washington 1 0 9 7 0 0 0 0 0 17
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 1 4 2 0 0 0 0 0 15
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 15 0 0 0 0 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 5 1 3 4 1 0 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 4 3 0 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 1 1 0 0 0 0 0 0 13
Revvity Omics, Revvity 1 2 8 0 0 0 0 0 0 11
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin 0 0 0 0 0 0 0 11 0 11
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 2 3 0 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 0 1 0 0 0 0 0 9
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 8 1 0 0 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 4 1 0 0 0 0 0 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 1 0 5 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 5 0 2 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 7 7
3DMed Clinical Laboratory Inc 2 0 5 0 0 0 0 0 0 7
deCODE genetics, Amgen 1 6 0 0 0 0 0 0 0 7
CZECANCA consortium 0 7 0 0 0 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 3 2 2 0 0 0 0 0 0 7
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine 3 4 0 0 0 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 0 0 0 6
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 0 5 0 6
New York Genome Center 4 2 0 0 0 0 0 0 0 6
3billion 1 2 3 0 0 0 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 5 0 0 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 1 0 0 0 0 0 0 5
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 2 1 2 0 0 0 0 0 0 5
Ute Scholl Laboratory, Heinrich Heine University Duesseldorf 5 0 0 0 0 0 0 0 0 5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 3 1 0 1 1 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 0 0 4
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 3 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 2 0 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 1 0 0 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 0 0 0 3
James Howe Lab, University of Iowa Hospital and Clinics 0 3 0 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 0 0 3
Division of Medical Genetics, University of Washington 3 0 0 0 0 0 0 0 0 3
Suma Genomics 2 1 0 0 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 0 0 0 3
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 2 0 1 0 0 0 0 0 0 3
Bioengineering and Technology, Gauhati University 0 1 0 0 0 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 0 3 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 0 2
Korbonits Lab, Queen Mary University of London 0 1 1 0 0 0 0 0 0 2
Human Genetics Unit, University Of Colombo 1 1 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 0 1 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 0 0 0 0 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 1 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 2 2
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission 0 2 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 1
Genetics, Medical University of Vienna 0 1 0 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 0 0 1
Genomic Medicine Laboratory, University of Vermont Medical Center 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 0 1
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 0 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 0 0 0 1
Department of Medicine, University of Texas Health Science Center at San Antonio 1 0 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 0 1
Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences 0 0 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 0 1
Keith Choate Laboratory, Yale University 1 0 0 0 0 0 0 0 0 1
Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 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 0 0 1

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