ClinVar Miner

Variants studied for congenital heart disease

Included ClinVar conditions (290):
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Gene type:
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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 association risk factor not provided total
1466 767 10389 7112 1395 18 4 970 20577

Gene and significance breakdown #

Total genes and gene combinations: 420
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
KCNH2 366 128 1080 777 54 0 1 358 2429
CACNA1C 22 13 938 1225 254 0 0 6 2391
AKAP9 1 4 1156 588 109 0 0 0 1759
ANK2 4 7 1011 644 129 0 0 14 1676
KCNQ1 321 199 481 460 56 0 0 307 1469
PRDM16 7 4 544 450 66 0 0 0 1060
MED13L 28 5 173 357 130 0 0 1 692
TNNT2 43 55 312 226 36 0 0 0 622
GATA4 52 6 312 218 44 0 0 0 606
SCN5A 36 33 325 60 33 0 0 162 547
ACTC1, GJD2-DT 10 13 307 213 13 0 0 1 532
KCNJ2 41 17 254 119 46 0 0 46 484
GATA6 15 1 255 180 19 0 0 0 461
NKX2-5 81 11 225 117 18 0 0 0 437
DTNA 2 2 233 178 28 0 0 0 433
MYBPC3 51 27 183 40 48 0 0 5 331
KCNJ5 3 2 181 98 31 0 0 2 306
SNTA1 2 2 178 118 23 0 0 0 292
MYH7 37 35 154 34 14 0 0 2 272
KCNE1 19 7 158 80 32 0 1 25 263
MYH6 2 3 166 31 6 0 0 0 207
ANK2, LOC126807136 0 1 127 64 6 0 0 0 193
ANK2, LOC126807137 0 0 129 62 17 0 0 1 193
CAV3, OXTR 9 4 98 63 10 0 0 0 174
SCN4B 3 0 96 61 5 0 0 0 163
CALM2 12 13 36 66 8 0 0 0 128
JAG1 6 1 64 46 10 0 0 0 127
LDB3 9 2 97 16 5 0 0 0 124
CALM3 6 1 25 76 13 0 0 0 120
HAND1 0 0 73 39 6 0 0 0 118
KCNE2, LOC105372791 3 2 65 37 6 0 1 10 95
KCNQ1, KCNQ1OT1 14 4 33 28 9 0 0 3 81
TPM1 10 10 49 8 3 0 0 2 79
NKX2-6 2 3 43 20 4 0 0 0 70
FOXF1 32 10 15 6 7 0 0 0 68
GJA1 3 0 54 5 6 0 0 0 67
NR2F2 10 5 22 26 4 0 0 0 66
CALM1 3 1 10 42 4 0 0 0 59
CAV3 9 2 32 13 2 0 0 0 56
LOC110121269, SCN5A 2 2 39 7 4 0 0 11 52
LOC130065680, SNTA1 0 0 31 13 2 0 0 0 44
LOC126861356, SCN4B 0 0 28 13 1 0 0 0 42
TBX20 4 2 32 2 4 0 0 0 42
TFAP2B 10 3 19 3 4 0 0 10 40
TTN 0 8 21 2 8 0 0 0 39
LOC126861897, MHRT, MYH7 0 2 32 2 2 0 0 0 38
LOC114827851, MYH6 0 0 29 2 0 0 0 0 31
AKAP9, LOC121175350 0 0 18 10 1 0 0 0 28
MIB1 2 4 11 8 5 0 0 0 28
CALM1, LOC126862021 9 1 3 13 0 0 0 0 26
LOC126859827, TAB2 12 11 4 0 0 0 0 0 26
LOC126861896, MYH6 0 0 21 3 2 0 0 0 26
LOC126861898, MYH7 5 6 9 3 0 0 0 0 23
MHRT, MYH7 0 2 16 4 1 0 0 0 23
RYR2 1 1 21 0 0 0 0 0 23
TBX1 1 3 15 2 0 0 0 2 23
​intergenic 6 5 10 0 0 0 0 0 21
DSP 1 1 12 1 2 0 0 0 17
GATA5 4 0 10 0 3 0 0 0 17
ANKRD1 0 0 3 8 9 0 0 0 16
TAF1 0 0 0 0 0 16 0 0 16
AKAP9, LOC129998788 0 0 9 5 0 0 0 0 14
LDB3, LOC110121486 2 0 8 0 3 0 0 1 14
NOTCH1 1 8 5 0 0 0 0 0 14
TAB2 5 3 5 1 0 0 0 0 13
CERS1, GDF1 3 4 6 0 0 0 0 0 12
AKAP9, LOC129998789 0 0 5 6 1 0 0 0 11
MYRF 0 9 2 0 0 0 0 0 11
LOC130065679, SNTA1 0 0 7 3 0 0 0 0 10
TLL1 3 0 7 0 0 0 0 0 10
ZFPM2 5 0 2 1 1 0 0 0 9
LOC126861897, MYH7 1 0 6 1 0 0 0 0 8
PKP2 0 2 5 1 0 0 0 0 8
TRPM4 0 0 6 2 0 0 0 0 8
LOC130006838, SCN4B 0 0 2 4 1 0 0 0 7
RBM20 1 1 3 0 2 0 0 0 7
ROBO1 0 4 3 0 0 0 0 0 7
SMAD2 5 0 1 0 1 0 0 0 7
CITED2 2 1 3 0 0 0 0 0 6
JUP 0 0 6 0 0 0 0 0 6
LMNA 3 2 0 0 1 0 0 0 6
LOC124903827, PRDM16 0 0 2 4 0 0 0 0 6
MIPEP 1 0 5 0 0 0 0 0 6
PLXND1 4 0 2 0 0 0 0 0 6
PRDM6 3 0 3 0 0 0 0 0 6
TBX5 3 3 0 0 0 0 0 0 6
BMP2 3 0 1 0 1 0 0 0 5
BMP7 2 0 0 0 3 0 0 0 5
CRELD1 4 0 1 0 0 0 0 0 5
LOC126860469, ZFPM2 1 0 3 1 0 0 0 0 5
MT-CO1 4 1 0 0 0 0 0 0 5
RYR1 0 0 5 0 0 0 0 0 5
BAG3 0 0 3 1 0 0 0 0 4
CACNA1S 0 1 3 0 0 0 0 0 4
DSC2 0 0 3 1 0 0 0 0 4
DSG2 0 1 2 1 0 0 0 0 4
LOC126807212, TLL1 1 0 3 0 0 0 0 0 4
LOC130065678, SNTA1 0 0 3 1 0 0 0 0 4
MAPK1 4 0 0 0 0 0 0 0 4
UBR4 0 0 4 0 0 0 0 0 4
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 2 0 1 0 0 0 0 0 3
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 3 0 0 0 0 0 3
ACTN2 0 0 2 1 0 0 0 0 3
CACNB2 0 0 2 0 1 0 0 0 3
CALM1, LOC130056272 0 0 0 3 0 0 0 0 3
CFAP53 0 2 1 0 0 0 0 0 3
CHD7 0 1 2 0 0 0 0 0 3
CTNNA3 0 1 2 0 0 0 0 0 3
DES 2 1 0 0 0 0 0 0 3
DMD 1 0 0 1 1 0 0 0 3
FLNA 0 1 2 0 0 0 0 0 3
GPD1L 0 0 2 1 0 0 0 0 3
HCN4 0 0 1 0 2 0 0 0 3
IRX4 2 0 1 0 0 0 0 0 3
KCNE1, KCNE2, SMIM11 0 0 3 0 0 0 0 0 3
KCNJ2, LOC130061539 0 0 2 0 1 0 0 0 3
MT-CO3 3 0 0 0 0 0 0 0 3
MYL2 2 1 0 0 0 0 0 0 3
NEXN 0 1 1 1 0 0 0 0 3
NODAL 1 0 2 0 0 0 0 0 3
SMAD6 2 0 1 0 0 0 0 0 3
TGFB3 0 0 3 0 1 0 0 0 3
TMPO 0 0 2 0 1 0 0 0 3
VCL 0 0 3 0 0 0 0 0 3
ABCC8 0 2 0 0 0 0 0 0 2
ABL1 2 0 0 0 0 0 0 0 2
ACTC1 0 0 2 0 0 0 0 0 2
CACNA1C, CACNA2D4, DCP1B 0 0 2 0 0 0 0 0 2
CACNA2D1 0 0 2 0 0 0 0 0 2
CASQ2 0 1 1 0 0 0 0 0 2
CEP170B 0 0 2 0 0 0 0 0 2
CIT 0 0 2 0 0 0 0 0 2
COL11A2 0 1 1 0 0 0 0 0 2
CREBBP 0 1 0 0 0 0 0 1 2
CUL9 0 0 2 0 0 0 0 0 2
CYFIP1 0 0 2 0 0 0 0 0 2
DIP2A 0 0 1 1 0 0 0 0 2
DNAH9 2 0 0 0 0 0 0 0 2
DPH2, LOC126805726 0 0 2 0 0 0 0 0 2
DYNC2H1 0 1 1 0 0 0 0 0 2
FLNC 2 0 0 0 0 0 0 0 2
FOXP1 1 0 0 0 0 1 0 0 2
FOXP4 1 1 0 0 0 0 0 0 2
GATA4, LOC110120689, LOC110121280, LOC110121281, LOC111365225, LOC129999900, LOC129999901, SNORA99 1 0 1 0 0 0 0 0 2
GATA4, LOC110121280 0 0 0 1 1 0 0 0 2
GH-LCR, SCN4A 0 0 2 0 0 0 0 0 2
HYDIN 0 1 1 0 0 0 0 0 2
HYLS1, PUS3 0 2 0 0 0 0 0 0 2
KCNE3 0 0 2 0 0 0 0 0 2
KCNH2, LOC110121275, LOC129999610, LOC129999611, LOC129999612 1 0 1 0 0 0 0 0 2
KCNQ1, KCNQ1OT1, LOC106783508, LOC132089927, LOC132090832 1 1 0 0 0 0 0 0 2
KIF21B 0 0 2 0 0 0 0 0 2
LAMA4 0 0 0 2 0 0 0 0 2
LINC01082 2 0 0 0 0 0 0 0 2
LRP1 0 0 2 0 0 0 0 0 2
MYPN 0 0 1 1 0 0 0 0 2
NOS1AP 0 0 2 0 0 0 0 0 2
OBSL1 0 0 2 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 2
SCN1B 0 0 1 1 0 0 0 0 2
SLMAP 0 0 2 0 0 0 0 0 2
SMARCA4 0 1 0 1 0 0 0 0 2
SMARCAL1 2 0 0 0 0 0 0 0 2
TCAP 0 0 0 0 2 0 0 0 2
TNNC1 0 1 1 0 0 0 0 0 2
UBR5 0 0 2 0 0 0 0 0 2
WDR26 0 0 2 0 0 0 0 0 2
ZFYVE16 0 0 2 0 0 0 0 0 2
AAR2 0 1 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, CCL3L3, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3B, TBC1D3F, TBC1D3G, TBC1D3H, TBC1D3I, TBC1D3K, ZNHIT3 1 0 0 0 0 0 0 0 1
ABCB6, ANKZF1, ASIC4, ATG9A, CHPF, CNPPD1, DES, DNAJB2, DNPEP, GLB1L, GMPPA, INHA, NHEJ1, OBSL1, PTPRN, RESP18, RETREG2, SLC23A3, SLC4A3, SPEG, STK11IP, STK16, TMEM198, TUBA4A, ZFAND2B 1 0 0 0 0 0 0 0 1
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KCNH2, KMT2C, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 0 0 1 0 0 0 0 0 1
ABCB8, AOC1, ASIC3, ATG9B, CDK5, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, KCNH2, NOS3, REPIN1, SLC4A2, TMEM176A, TMEM176B, ZNF775 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, LOC131696449, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA6, NPIPA7, NTAN1, PDXDC1, RRN3 0 0 1 0 0 0 0 0 1
ABCC9 1 0 0 0 0 0 0 0 1
ABCD4, ACOT1, ACOT2, ACOT4, ACOT6, ACYP1, ALDH6A1, ANGEL1, AREL1, BATF, BBOF1, CIPC, COQ6, DCAF4, DLST, DNAL1, DPF3, EIF2B2, ENTPD5, ERG28, ESRRB, FAM161B, FCF1, FLVCR2, FOS, GPATCH2L, HEATR4, IFT43, IRF2BPL, ISCA2, JDP2, LIN52, LRRC74A, LTBP2, MIDEAS, MLH3, NEK9, NPC2, NUMB, PAPLN, PGF, PNMA1, PROX2, PSEN1, PTGR2, RBM25, RIOX1, RPS6KL1, SYNDIG1L, TGFB3, TMED10, TMEM63C, TTLL5, VASH1, VRTN, VSX2, YLPM1, ZC2HC1C, ZDHHC22, ZFYVE1, ZNF410 0 1 0 0 0 0 0 0 1
ABCF1 0 0 0 1 0 0 0 0 1
ABCG4, ARCN1, ATP5MG, BCL9L, C2CD2L, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HINFP, HMBS, HYOU1, IFT46, JAML, KMT2A, MPZL2, MPZL3, NHERF4, NLRX1, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 0 0 1
ABHD12, ENTPD6, GINS1, LOC101926889, LOC112694695, LOC112694696, LOC126863008, LOC129391161, LOC130065567, LOC130065568, LOC130065569, LOC130065570, LOC130065571, LOC130065572, LOC130065573, LOC130065574, LOC130065575, LOC130065576, LOC130065577, LOC130065578, LOC130065579, LOC130065580, LOC130065581, LOC130065582, LOC130065583, LOC130065584, LOC130065585, LOC130065586, LOC130065587, LOC130065588, LOC284798, NINL, PYGB 0 0 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 1 0 0 0 0 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EDEM2, EIF2S2, GGT7, GSS, ITCH, MAP1LC3A, MIR499A, MYH7B, NCOA6, NECAB3, PIGU, PROCR, PXMP4, RALY, SNTA1, TP53INP2, TRPC4AP, ZNF341 0 0 1 0 0 0 0 0 1
ACTC1, GJD2, GOLGA8A, GOLGA8B, LPCAT4, NOP10, NUTM1, SLC12A6 0 0 1 0 0 0 0 0 1
ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EIF2S2, ITCH, MAP1LC3A, NCOA6, NECAB3, PIGU, PXMP4, RALY, SNTA1, TP53INP2, ZNF341 0 0 1 0 0 0 0 0 1
ACTL6A 0 1 0 0 0 0 0 0 1
ACTRT2, ARHGEF16, C1orf174, CCDC27, CEP104, DFFB, HES5, LINC01134, LINC01345, LINC01346, LINC01777, LINC02780, LOC100996583, LOC105378604, LOC108281140, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC112577581, LOC120851201, LOC121677384, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC128505377, LOC129388423, LOC129388424, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIR4251, MIR551A, MMEL1, PANK4, PRDM16, PRDM16-DT, PRXL2B, SMIM1, TNFRSF14, TP73, TPRG1L, TTC34, WRAP73 0 0 1 0 0 0 0 0 1
ACVR1B 1 0 0 0 0 0 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, CECR7, GAB4, HDHD5, IL17RA, LINC00528, LINC01634, LINC01664, LOC101929372, LOC106799832, LOC106799835, LOC114827861, LOC121627928, LOC125424380, LOC125424381, LOC125424382, LOC125424383, LOC125424384, LOC126863093, LOC126863094, LOC126863095, LOC126863096, LOC129391259, LOC129391260, LOC129391261, LOC130066888, LOC130066889, LOC130066890, LOC130066891, LOC130066892, LOC130066893, LOC130066894, LOC130066895, LOC130066896, LOC130066897, LOC130066898, LOC130066899, LOC130066900, LOC130066901, LOC130066902, LOC130066903, LOC130066904, LOC130066905, LOC130066906, LOC130066907, LOC130066908, LOC130066909, LOC130066910, LOC130066911, LOC130066912, LOC130066913, LOC130066914, LOC130066915, LOC130066916, LOC130066917, LOC130066918, LOC130066919, LOC130066920, LOC130066921, LOC130066922, LOC130066923, LOC130066924, LOC130066925, LOC130066926, LOC130066927, LOC130066928, LOC130066929, LOC130066930, LOC130066931, LOC130066932, LOC130066933, LOC130066934, LOC130066935, LOC130066936, LOC130066937, LOC130066938, LOC130066939, LOC130066940, LOC130066941, LOC130066942, LOC130066943, LOC130066944, LOC130066945, LOC130066946, LOC130066947, LOC132090620, LOC132090621, LOC132090622, LOC132090623, LOC132090624, LOC132090625, LOC132090626, MICAL3, MIR3198-1, MIR648, PEX26, SLC25A18, TMEM121B, TUBA8, USP18, XKR3 1 0 0 0 0 0 0 0 1
ADAD2, ATP2C2, C16orf74, CIBAR2, COTL1, COX4I1, CRISPLD2, DNAAF1, EMC8, GINS2, GSE1, HSDL1, IRF8, KCNG4, KIAA0513, KLHL36, LINC01082, LOC654780, MBTPS1, MEAK7, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C, USP10, WFDC1, ZDHHC7 0 1 0 0 0 0 0 0 1
AFG2B, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC130056981, LOC130056982, LOC130056983, LOC130056984, LOC130056985, LOC130056986, LOC130056987, LOC130056988, LOC130056989, LOC130056990, LOC130056991, LOC130056992, LOC130056993, LOC130056994, LOC130056995, LOC130056996, LOC130056997, LOC130056998, LOC130056999, MIR147B, SHF, SLC28A2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 0 1 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, SPAG11A, SPAG11B, TDRP, USP17L1, USP17L4, XKR5, ZNF596, ZNF705B, ZNF705G 1 0 0 0 0 0 0 0 1
AKAP8 0 0 0 1 0 0 0 0 1
AKAP9, ANKIB1, CYP51A1, GATAD1, KRIT1, LOC113748416, LOC121175350, LOC126860104, LOC129389824, LOC129389825, LOC129389826, LOC129998788, LOC129998789, LOC129998790, LOC129998791, LOC129998792, LOC129998793, LOC129998794, LRRD1, MIR1285-1 0 0 1 0 0 0 0 0 1
ALDH1A3, ASB7, CERS3, LINS1, LRRK1 0 0 1 0 0 0 0 0 1
ALG10 0 0 0 0 0 0 1 0 1
ANKRD31 0 0 0 1 0 0 0 0 1
APBA2, ATP10A, CYFIP1, ENTREP2, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TUBGCP5, UBE3A 1 0 0 0 0 0 0 0 1
ARF3 1 0 0 0 0 0 0 0 1
ARHGAP22 0 0 0 1 0 0 0 0 1
ARHGAP8, KIAA0930, LINC00207, LINC00229, LINC01656, LOC101927551, LOC105373064, LOC112695103, LOC114004364, LOC121853046, LOC125446255, LOC126863163, LOC126863164, LOC126863165, LOC128772436, LOC128772437, LOC128772438, LOC130067656, LOC130067657, LOC130067658, LOC130067659, LOC130067660, LOC130067661, LOC130067662, LOC130067663, LOC130067664, LOC130067665, LOC130067666, LOC130067667, LOC130067668, LOC130067669, LOC130067670, MIR1249, NUP50, NUP50-DT, PARVG, PHF21B, PRR5, PRR5-ARHGAP8, RTL6, SHISAL1 0 0 1 0 0 0 0 0 1
ARL13B 0 0 0 1 0 0 0 0 1
ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, IL17RC, IL17RE, JAGN1, LHFPL4, MTMR14, OGG1, OXTR, RAD18, RPUSD3, SETD5, SRGAP3, TADA3, THUMPD3, TTLL3 0 0 1 0 0 0 0 0 1
ARSD, ARSH, ARSL, GYG2 0 0 1 0 0 0 0 0 1
ARVCF 0 0 0 1 0 0 0 0 1
ASPSCR1, B3GNTL1, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, FASN, FN3K, FN3KRP, FOXK2, GPS1, HEXD, HEXD-IT1, LINC01970, LOC101929552, LOC108254691, LOC108348028, LOC112533686, LOC112533687, LOC121627820, LOC121852956, LOC121852957, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390948, LOC129390949, LOC129390950, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LRRC45, METRNL, MIR4525, MIR6787, NARF, OGFOD3, RAB40B, RAC3, RFNG, SECTM1, SLC16A3, SNORD134, TBCD, TEX19, TRX-CAT1-8, UTS2R, WDR45B, ZNF750 0 0 1 0 0 0 0 0 1
ASXL3 0 0 1 0 0 0 0 0 1
ASZ1, CAPZA2, CFTR, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674476, LOC111674478, LOC113219433, LOC113219434, LOC113219440, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113664106, LOC113664107, LOC116186911, LOC123956215, LOC126860159, LOC129999177, LOC129999178, LOC129999179, LOC129999180, LOC129999181, LOC129999182, LOC129999183, LOC129999184, LOC129999185, LOC129999186, LOC129999187, LOC129999188, MIR6132, ST7, ST7-OT3, ST7-OT4, WNT2 0 0 1 0 0 0 0 0 1
ATL3 0 0 0 1 0 0 0 0 1
ATP2A1, ATXN2L, CD19, EIF3C, LAT, NFATC2IP, RABEP2, SH2B1, SPNS1, SULT1A1, TUFM 1 0 0 0 0 0 0 0 1
ATP5ME, CPLX1, CRIPAK, CTBP1, DGKQ, FAM53A, FGFR3, FGFRL1, GAK, IDUA, LETM1, MAEA, MYL5, NKX1-1, PCGF3, PDE6B, PIGG, RNF212, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, UVSSA, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732 1 0 0 0 0 0 0 0 1
ATP6V0E1, BNIP1, BOD1, C5orf58, CPEB4, CREBRF, DOCK2, DUSP1, EFCAB9, ERGIC1, FBXW11, FGF18, FOXI1, GABRP, INSYN2B, KCNIP1, KCNMB1, LCP2, LOC100128059, LOC100288254, MIR103A1, NEURL1B, NKX2-5, NPM1, PANK3, RANBP17, RARS1, RPL26L1, SH3PXD2B, SLIT3, SMIM23, SNORA74B, SPDL1, STC2, STK10, TENM2, TLX3, UBTD2, WWC1 1 0 0 0 0 0 0 0 1
ATP6V0E1, BNIP1, CREBRF, DUSP1, ERGIC1, NEURL1B, NKX2-5, RPL26L1, SNORA74B, STC2 1 0 0 0 0 0 0 0 1
BAG3, CACUL1, CASC2, DENND10, EIF3A, EMX2, EMX2OS, FAM204A, GRK5, INPP5F, KCNK18, MCMBP, NANOS1, PDZD8, PLPP4, PRDX3, PRLHR, RAB11FIP2, RGS10, SEC23IP, SFXN4, SLC18A2, TIAL1, VAX1 0 0 1 0 0 0 0 0 1
BAIAP3 0 0 0 1 0 0 0 0 1
BCR, GGTLC2, GNAZ, IGLC1, IGLL5, RAB36, RSPH14 1 0 0 0 0 0 0 0 1
BIN3, BMP1, C8orf58, CCAR2, CHMP7, DMTN, EGR3, ENTPD4, FGF17, FHIP2B, HR, LGI3, LOXL2, MIR320A, NKX2-6, NKX3-1, NUDT18, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, R3HCC1, REEP4, RHOBTB2, SFTPC, SLC25A37, SLC39A14, SORBS3, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D 0 0 1 0 0 0 0 0 1
BIRC6, LINC00486, LOC100271832, LOC112840924, LOC112840925, LOC122756687, LOC122756688, LOC122756689, LOC126806184, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC132088840, LTBP1, MIR4765, MIR558, TTC27 0 0 1 0 0 0 0 0 1
BLK, C8orf74, CLDN23, CTSB, ERI1, FAM167A, FDFT1, GATA4, MFHAS1, MIR124-1, MSRA, MTMR9, NEIL2, PINX1, PPP1R3B, PRSS51, PRSS55, RP1L1, SLC35G5, SOX7, TNKS, XKR6 1 0 0 0 0 0 0 0 1
BRAF 0 1 0 0 0 0 0 0 1
BRF1 1 0 0 0 0 0 0 0 1
C16orf74, C16orf95, CIBAR2, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT, ZDHHC7 1 0 0 0 0 0 0 0 1
C16orf95, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, JPH3, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT 1 0 0 0 0 0 0 0 1
C1QTNF9, C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 1 0 0 0 0 0 0 0 1
C9orf163, INPP5E, NOTCH1, PMPCA, SEC16A 1 0 0 0 0 0 0 0 1
CACNA1C, CACNA1C-IT3 0 0 0 0 1 0 0 0 1
CACNA1C, CACNA1C-IT3, LOC124625881, LOC126861417, LOC126861418, LOC130007179, LOC130007180 0 0 1 0 0 0 0 0 1
CACNA1C, LINC02371, LOC130007181 0 0 1 0 0 0 0 0 1
CACNA1C, LOC126861418 0 0 0 0 1 0 0 0 1
CACNA1C, LOC130007181 0 0 0 0 1 0 0 0 1
CALM1, LOC112272566 0 0 0 0 1 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 0 0 1
CALM3, LOC130064760 0 0 0 0 1 0 0 0 1
CAPN15 0 1 0 0 0 0 0 0 1
CAPS2, GLIPR1, GLIPR1L1, GLIPR1L2, KCNC2, KRR1, LOC100130268, LOC124629407, LOC129390507, LOC130008300, LOC130008301, LOC130008302, LOC130008303 0 0 1 0 0 0 0 0 1
CAV3, LHFPL4, MTMR14, OXTR, RAD18, SETD5, SRGAP3, THUMPD3 0 0 1 0 0 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 0 0 1
CCDC168 0 0 0 1 0 0 0 0 1
CCN3 0 0 0 1 0 0 0 0 1
CD276 0 0 0 1 0 0 0 0 1
CD300LG, CFAP97D1, DUSP3, FAM215A, LINC01976, LINC02594, LOC102724183, LOC112533640, LOC121587594, LOC125177485, LOC125177486, LOC125177487, LOC126862572, LOC130060947, LOC130060948, LOC130060949, LOC130060950, LOC130060951, LOC130060952, LOC130060953, LOC130060954, LOC130060955, LOC130060956, MEOX1, MPP2, MPP3, NAGS, PPY, PYY, SOST, TMEM101 0 0 1 0 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 0 1
CDKL4, MAP4K3, SOS1 0 0 1 0 0 0 0 0 1
CELSR1 0 0 0 1 0 0 0 0 1
CERS1, GDF1, UPF1 1 0 0 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 1
CHRNA7, FAN1, KLF13, LINC02352, LINC03034, LOC106736477, LOC110121498, LOC112272582, LOC121847941, LOC125078053, LOC126862088, LOC126862089, LOC127829159, LOC128899998, LOC128899999, LOC129390680, LOC129390681, LOC130056726, LOC130056727, MIR211, MTMR10, OTUD7A, TRPM1 0 0 1 0 0 0 0 0 1
CITED2, LOC129997307 1 0 0 0 0 0 0 0 1
CLIC6, KCNE1, KCNE2, RCAN1, RUNX1, SMIM11 0 0 1 0 0 0 0 0 1
CLUAP1, CREBBP, DNASE1, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, NLRC3, SLX4, TRAP1 0 0 1 0 0 0 0 0 1
COL1A1 0 0 1 0 0 0 0 0 1
COL1A2 0 0 1 0 0 0 0 0 1
COL2A1 1 0 0 0 0 0 0 0 1
COL5A2 0 0 1 0 0 0 0 0 1
CSMD1, LOC107522030, LOC123987610 0 0 1 0 0 0 0 0 1
CTRL 0 0 0 1 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 0 0 1
DDB1 0 0 1 0 0 0 0 0 1
DHX15 0 0 1 0 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 1
DIPK2A, LOC129937722, LOC129937723 0 0 1 0 0 0 0 0 1
DNA2 0 0 0 1 0 0 0 0 1
DOCK8, FOXD4, LINC01388, LOC110120718, LOC124210604, LOC129390061, LOC130001433, LOC130001434, LOC130001435, LOC130001436, LOC130001437, LOC130001438, PGM5P3, ZNG1A 0 0 1 0 0 0 0 0 1
DPP6 0 0 1 0 0 0 0 0 1
ELMOD2 0 0 0 1 0 0 0 0 1
ELN 0 0 1 0 0 0 0 0 1
EPHB4 0 1 0 0 0 0 0 0 1
ERAP1 0 0 0 1 0 0 0 0 1
ERF 0 0 1 0 0 0 0 0 1
ETV2 0 1 0 0 0 0 0 0 1
ETV2, LOC130064247 0 1 0 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 0 0 1
FENDRR, FOXF1 1 0 0 0 0 0 0 0 1
FGF14 0 1 0 0 0 0 0 0 1
FGF2, LOC109113863 0 0 0 1 0 0 0 0 1
FLNA, LOC107988032 1 0 0 0 0 0 0 0 1
FLVCR2 0 0 1 0 0 0 0 0 1
FOXR2 0 0 1 0 0 0 0 0 1
FSIP2 0 0 0 1 0 0 0 0 1
GAA 0 0 0 1 0 0 0 0 1
GABRG3 0 0 1 0 0 0 0 0 1
GATA6, MIB1, MIR1-2, MIR133A1 0 0 1 0 0 0 0 0 1
GNAI2 0 0 1 0 0 0 0 0 1
GPATCH2 0 0 0 1 0 0 0 0 1
GUF1 0 0 0 1 0 0 0 0 1
HDAC8 0 1 0 0 0 0 0 0 1
HK3 0 0 0 1 0 0 0 0 1
HKDC1 0 0 0 1 0 0 0 0 1
HNRNPM 0 0 0 1 0 0 0 0 1
HUWE1 0 0 1 0 0 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 0 0 1
INPP5E 1 0 0 0 0 0 0 0 1
INTS8 0 0 0 1 0 0 0 0 1
ISL1 0 0 1 0 0 0 0 0 1
JPH2 0 0 0 0 1 0 0 0 1
KCNE2 0 0 1 0 0 0 0 0 1
KCNH2, LOC129999612 1 0 0 0 0 0 0 0 1
KCNJ8 0 0 1 0 0 0 0 0 1
KDR 0 1 0 0 0 0 0 0 1
KIF11 0 0 0 1 0 0 0 0 1
KLF13 0 0 1 0 0 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 0 0 1
LIMS3, LIMS4, MALL, NPHP1, RGPD5, RGPD6 0 0 1 0 0 0 0 0 1
LINC01506, LOC130001851, LOC130001852, LOC130001853, LOC130001854, LOC130001855, LOC130001856, LOC130001857, PGM5, PIP5K1B, TMEM252, TMEM252-DT 0 0 1 0 0 0 0 0 1
LMNA, LOC126805877 1 0 0 0 0 0 0 0 1
LOC101927055, TTN 0 0 0 0 1 0 0 0 1
LOC101928438, LOC126860703, LOC130002242, LOC130002243, NR4A3 0 0 1 0 0 0 0 0 1
LOC105378604, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC120851201, LOC121967052, LOC124903827, LOC126805583, LOC126805584, LOC126805585, LOC132088690, LOC132088694, LOC132090658, MIR4251, PRDM16 0 0 1 0 0 0 0 0 1
LOC106029241, LOC121627957, LOC125446266, LOC126863198, LOC126863199, LOC126863200, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR651, PNPLA4, VCX2, VCX3B 0 0 1 0 0 0 0 0 1
LOC112872301, PLXND1 1 0 0 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 1
LOC123493235, TLL1 0 0 1 0 0 0 0 0 1
LOC125467766, TENT5D 0 0 1 0 0 0 0 0 1
LOC126806067, RYR2 0 0 1 0 0 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 0 0 1
LOC126806426, TTN 0 0 0 0 1 0 0 0 1
LOC126806427, TTN 0 1 0 0 0 0 0 0 1
LOC126806430, TTN 0 0 0 1 0 0 0 0 1
LOC126862264, MEFV 0 1 0 0 0 0 0 0 1
LOC130004408, TCTN3 0 0 0 1 0 0 0 0 1
LOC130057222, TPM1 0 0 1 0 0 0 0 0 1
LOC130057889, MESP1 0 0 1 0 0 0 0 0 1
LONP1 0 0 1 0 0 0 0 0 1
LRBA 0 0 0 1 0 0 0 0 1
LRRC8E 0 0 0 1 0 0 0 0 1
LTBP1 0 0 1 0 0 0 0 0 1
MADD, MYBPC3 1 0 0 0 0 0 0 0 1
MAGEA1 0 0 1 0 0 0 0 0 1
MDN1 0 0 0 1 0 0 0 0 1
MED12 1 0 0 0 0 0 0 0 1
MKI67 0 0 0 1 0 0 0 0 1
MN1 0 0 1 0 0 0 0 0 1
MT-CO2 1 0 0 0 0 0 0 0 1
MYBPHL 0 0 0 1 0 0 0 0 1
MYCN 0 0 1 0 0 0 0 0 1
MYH6, MYH7 0 0 0 1 0 0 0 0 1
MYL3 0 0 1 0 0 0 0 0 1
MYLK 0 0 1 0 0 0 0 0 1
MYLK2 0 0 0 1 0 0 0 0 1
MYLK4 0 0 0 1 0 0 0 0 1
NEBL 0 0 0 0 1 0 0 0 1
NET1 0 0 0 1 0 0 0 0 1
NIPBL 1 0 0 0 0 0 0 0 1
NLRP13 0 0 0 1 0 0 0 0 1
NLRX1 0 0 0 1 0 0 0 0 1
NONO 0 1 0 0 0 0 0 0 1
NR1D2 0 1 0 0 0 0 0 0 1
NR5A2 0 0 0 1 0 0 0 0 1
NRIP1 0 0 0 1 0 0 0 0 1
NSD1 1 0 0 0 0 0 0 0 1
NSD2 1 0 0 0 0 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 0 1
PKD1 0 0 1 0 0 0 0 0 1
PKD1L2 0 0 0 1 0 0 0 0 1
PLCB4 0 0 0 1 0 0 0 0 1
POLRMT 0 0 0 1 0 0 0 0 1
PROKR1 0 0 0 1 0 0 0 0 1
PRSS12 0 0 0 1 0 0 0 0 1
PRSS57 0 0 0 1 0 0 0 0 1
PSMC3 1 0 0 0 0 0 0 0 1
PTCH1 0 0 1 0 0 0 0 0 1
PTOV1 0 0 0 1 0 0 0 0 1
PTPN11 1 0 0 0 0 0 0 0 1
RAI2 0 0 1 0 0 0 0 0 1
RALGAPA1 0 0 0 1 0 0 0 0 1
RASA2 0 0 1 0 0 0 0 0 1
RBFOX2 0 0 1 0 0 0 0 0 1
REM1 0 0 0 1 0 0 0 0 1
RET 1 0 0 0 0 0 0 0 1
RIMS1 0 0 1 0 0 0 0 0 1
RIT1 1 0 0 0 0 0 0 0 1
RNF207 0 1 0 0 0 0 0 0 1
RNF213 0 0 1 0 0 0 0 0 1
ROCK2 0 0 1 0 0 0 0 0 1
RPS6KA3 0 1 0 0 0 0 0 0 1
RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 1 0 0 0 0 1
SCN3B 0 0 1 0 0 0 0 0 1
SDC1 0 0 0 1 0 0 0 0 1
SETBP1 0 1 0 0 0 0 0 0 1
SETD5 0 1 0 0 0 0 0 0 1
SHANK3 0 0 0 1 0 0 0 0 1
SIDT1 0 0 0 1 0 0 0 0 1
SIRT6 0 0 1 0 0 0 0 0 1
SLC2A5 0 0 0 0 0 1 0 0 1
SLC6A17 0 0 0 1 0 0 0 0 1
SNAPC4 0 0 0 1 0 0 0 0 1
SNAPC5 0 0 0 1 0 0 0 0 1
SND1 0 0 0 1 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 0 1
STK32B 0 0 0 1 0 0 0 0 1
SUPT16H 0 0 1 0 0 0 0 0 1
SYK 0 0 0 1 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 0 1
TAFAZZIN 0 0 1 0 0 0 0 0 1
TBX4 1 0 0 0 0 0 0 0 1
TBXAS1 0 0 1 0 0 0 0 0 1
TDRD6 0 0 0 1 0 0 0 0 1
TECRL 0 1 0 0 0 0 0 0 1
TGFB2 1 0 0 0 0 0 0 0 1
TGFBRAP1 0 0 0 1 0 0 0 0 1
TLNRD1 0 0 0 1 0 0 0 0 1
TMEM43 0 0 1 0 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 0 1
TNNI3 0 0 1 0 0 0 0 0 1
TOP2A 0 0 0 1 0 0 0 0 1
TRHDE 0 0 0 1 0 0 0 0 1
TRMU 0 0 0 1 0 0 0 0 1
UBR7 0 0 0 1 0 0 0 0 1
UPP1 0 0 0 1 0 0 0 0 1
USP19 0 0 0 1 0 0 0 0 1
VANGL1 0 0 1 0 0 0 0 0 1
VSX1 0 0 0 1 0 0 0 0 1
WAPL 0 0 1 0 0 0 0 0 1
WDR25 0 0 0 1 0 0 0 0 1
WDR5 0 0 1 0 0 0 0 0 1
WWC2 0 0 0 1 0 0 0 0 1
YME1L1 0 0 0 1 0 0 0 0 1
ZNF174 0 0 0 1 0 0 0 0 1
ZNF341 0 0 0 1 0 0 0 0 1
ZNF862 0 0 0 1 0 0 0 0 1
ZRSR2 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 224
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 822 232 7621 6378 985 0 0 0 16038
Fulgent Genetics, Fulgent Genetics 85 48 1582 297 63 0 0 0 2075
Illumina Laboratory Services, Illumina 4 9 1213 383 264 0 0 0 1785
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 892 892
Genome-Nilou Lab 7 18 100 61 293 0 0 0 479
OMIM 291 0 6 0 0 0 1 0 298
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 77 34 73 0 0 0 0 0 184
Baylor Genetics 44 23 89 0 0 0 0 0 156
Dept of Medical Biology, Uskudar University 16 16 107 7 7 0 0 0 153
Medical Research Institute, Tokyo Medical and Dental University 0 17 28 74 0 1 0 0 120
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 26 10 73 4 0 0 0 0 113
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 7 0 83 2 0 0 0 0 92
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 18 15 53 2 3 0 0 0 91
Blueprint Genetics 14 13 53 4 0 0 1 0 85
New York Genome Center 8 8 63 0 0 0 0 0 79
Centre for Mendelian Genomics, University Medical Centre Ljubljana 13 11 46 1 0 0 0 0 71
CSER _CC_NCGL, University of Washington 1 2 52 9 0 0 0 0 64
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 38 15 0 3 4 0 0 0 60
Revvity Omics, Revvity 2 4 51 0 0 0 0 0 57
Cytogenetics- Mohapatra Lab, Banaras Hindu University 30 2 15 3 7 0 0 0 57
Institute of Human Genetics, University of Leipzig Medical Center 9 19 26 2 1 0 0 0 57
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 38 11 5 0 3 0 0 0 57
Mendelics 6 1 20 7 17 0 0 0 51
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 2 29 18 0 0 0 50
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 18 30 0 0 0 0 1 0 49
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 3 1 7 16 22 0 0 0 49
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 12 16 20 0 0 0 48
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 15 17 11 0 0 0 2 0 45
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 5 17 20 3 0 0 0 0 45
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 16 23 0 0 0 42
MGZ Medical Genetics Center 11 7 14 0 0 0 0 0 32
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 30 30
Daryl Scott Lab, Baylor College of Medicine 4 1 24 0 0 0 0 0 29
GeneReviews 0 0 0 0 0 0 0 28 28
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 10 10 5 0 0 0 27
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 5 13 1 0 0 0 0 26
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 3 6 14 0 0 0 0 0 23
Division of Human Genetics, Children's Hospital of Philadelphia 6 6 11 0 0 0 0 0 23
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 7 7 6 1 2 0 0 0 23
3billion 7 8 8 0 0 0 0 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 9 11 0 0 0 22
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 5 9 1 2 0 0 0 21
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 20 0 0 0 0 0 0 0 20
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 6 5 9 0 0 0 0 0 20
Johns Hopkins Genomics, Johns Hopkins University 4 1 7 4 4 0 0 0 20
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 13 6 0 0 0 0 0 0 19
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 2 15 0 0 0 0 0 19
Stankiewicz Research Laboratory, Baylor College of Medicine 18 0 0 0 0 0 0 0 18
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 10 4 3 0 0 0 17
University of Washington Center for Mendelian Genomics, University of Washington 0 13 4 0 0 0 0 0 17
Yale Center for Mendelian Genomics, Yale University 0 0 0 0 0 16 0 0 16
GenomeConnect, ClinGen 0 0 0 0 0 0 0 16 16
Phosphorus, Inc. 0 0 12 0 3 0 0 0 15
Center for Personalized Medicine, Children's Hospital Los Angeles 2 3 9 1 0 0 0 0 15
KardioGenetik, Herz- und Diabeteszentrum NRW 4 1 10 0 0 0 0 0 15
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 3 3 4 2 2 0 0 0 14
Clinical Genetics Laboratory, Region Ostergotland 7 7 0 0 0 0 0 0 14
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research 14 0 0 0 0 0 0 0 14
Laboratory of Genomics, Instituto Nacional de Cardiología Ignacio Chávez 0 0 13 0 0 0 0 0 13
SIB Swiss Institute of Bioinformatics 4 5 4 0 0 0 0 0 13
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 10 0 0 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 6 4 0 0 0 0 0 12
Center for Reproductive Medicine, Peking University Third Hospital 1 6 5 0 0 0 0 0 12
Institute of Human Genetics, University of Goettingen 0 3 8 0 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 5 0 0 0 0 0 0 11
deCODE genetics, Amgen 4 7 0 0 0 0 0 0 11
KTest Genetics, KTest 5 6 0 0 0 0 0 0 11
Center for Medical Genetics Ghent, University of Ghent 3 6 1 0 0 0 0 0 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 7 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 3 0 6 0 1 0 0 0 10
Reproductive Health Research and Development, BGI Genomics 0 2 0 0 8 0 0 0 10
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 5 5 0 0 0 0 0 10
Cohesion Phenomics 0 0 0 4 6 0 0 0 10
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 5 0 0 0 0 0 0 9
Molecular Biology Laboratory, University of Basrah 8 1 0 0 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 9 9
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 6 2 0 0 0 0 0 9
Centogene AG - the Rare Disease Company 1 4 3 0 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 2 0 0 0 0 0 8
Roden Lab, Vanderbilt University Medical Center 1 6 1 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 4 0 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 1 3 0 0 0 0 0 7
Genomic Medicine Lab, University of California San Francisco 2 1 4 0 0 0 0 0 7
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 3 4 0 0 0 0 0 0 7
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 5 0 0 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 4 0 0 0 0 0 6
Biotechnology Research Center, Pasteur Institute of Iran 4 2 0 0 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 5 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 6 0 0 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 6 6
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 3 1 2 0 0 0 0 0 6
George Lab Vanderbilt University 0 5 0 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 2 0 0 0 0 0 5
Clinical Genetics, Erasmus University Medical Center 3 2 0 0 0 0 0 0 5
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 5 0 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 3 0 0 0 0 0 5
Clinical Genetics Research Group, Karolinska Institutet 2 0 3 0 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 1 3 0 0 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 3 0 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 2 2 0 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 0 0 4
Center for Human Genetics, University of Leuven 2 1 0 1 0 0 0 0 4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 4 0 0 0 0 0 0 4
Heart Center, Academic Medical Center Amsterdam 0 4 0 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 2 0 0 0 4
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 2 0 2 0 0 0 0 0 4
Arcensus 1 3 0 0 0 0 0 0 4
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 3 0 0 0 0 0 0 0 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 1 0 0 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 0 0 3
Embryology Laboratory, Victor Chang Cardiac Research Institute 3 0 0 0 0 0 0 0 3
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 1 1 0 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 1 0 0 0 0 0 3
Breda Genetics srl 0 0 3 0 0 0 0 0 3
Clinical Genomics Program, Stanford Medicine 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 0 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 0 0 3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 3 0 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 1 1 1 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 1 0 0 0 2
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 0 0 2 2
Neurogenetics Laboratory, Royal Perth Hospital 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 2
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 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 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 0 0 0 0 0 0 2
Department of Medical Biology, Academic Medical Center 0 2 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 0 0 2
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 2 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 0 0 2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 0 2 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 0 0 2
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 2 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 0 0 2
Klaassen Lab, Charite University Medicine Berlin 1 1 0 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 1 0 0 0 0 2
Hongyan Wang Laboratory, Fudan University 2 0 0 0 0 0 0 0 2
Istanbul Faculty of Medicine, Istanbul University 2 0 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 2 0 0 0 0 0 0 2
Research Institute, Imperial College London Diabetes Centre 1 1 0 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 0 0 0 2
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 2 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 1 0 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 0 1
McDonald Lab; Albert Einstein College of Medicine 1 0 0 0 0 0 0 0 1
Center for Molecular Medicine, University Medical Center Utrecht 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 1 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 0 0 1
Choi Lab, Seoul National University 0 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 1
Human Genetics and Genome Research Institute, National Research Centre 0 1 0 0 0 0 0 0 1
School of Life Sciences, Manipal University 1 0 0 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 1 0 0 0 0 0 1
Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 0 0 0 0 0 1
Translational Genomics Laboratory, University of Maryland School of Medicine 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit, University of Madras 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 0 0 1
Division of Laboratory Medicine and Clinical Genetics, Chiba University Hospital 1 0 0 0 0 0 0 0 1
Akbari laboratory, Tarbiat Modares University 0 1 0 0 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 0 1 0 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 1 0 0 0 0 0 0 1
Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Cardiovascular Institute 0 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 1 0 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 0 0 1
Medical Genetics, American University of Beirut 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 0 1
Swiss DNAlysis 1 0 0 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 0 0 1
Cardiogenomic Section, Hospital Ramos Mejia 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Nizam's Institute of Medical Sciences 1 0 0 0 0 0 0 0 1
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine 1 0 0 0 0 0 0 0 1
Quironsalud Teknon Heart Institute, Quironsalud Teknon Hospital 0 0 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 0 0 1
Center of Genetics and Reproductive Medicine "Genetico" 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 1
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 1 0 0 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 1 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 1 0 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 1 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 1
Dept of Reproduction and Endocrinology, The Sixth Affiliated Hospital of Sun Yat-sen University 1 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 0 1
Department of Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 0 0 1
Pediatric Endocrinology and Metabolic Disease, Anhui Provincial Children’s Hospital 1 0 0 0 0 0 0 0 1
Yamagishi Lab, Dept of Pediatrics, Keio University school of medicine 0 0 1 0 0 0 0 0 1
Razi Pathobiology & Medical Genetics 0 0 0 0 1 0 0 0 1

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