ClinVar Miner

Variants studied for congenital anomaly of cardiovascular system

Included ClinVar conditions (306):
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 risk factor not provided total
1159 534 5984 2440 1102 2 5 936 11081

Gene and significance breakdown #

Total genes and gene combinations: 354
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
KCNH2 217 88 616 264 35 0 1 357 1348
ANK2 4 6 718 290 90 0 0 12 1027
CACNA1C 14 5 487 328 204 0 0 2 1021
KCNQ1 210 93 308 134 39 0 0 304 833
AKAP9 1 5 484 177 69 0 0 0 675
PRDM16 6 0 260 134 44 0 0 0 442
SCN5A 28 24 199 51 31 0 0 161 415
KCNJ2 37 10 151 42 45 0 0 42 297
ELN 71 21 111 58 40 0 0 1 286
ACVR2B 2 1 168 27 77 0 0 0 266
TNNT2 27 11 172 62 10 0 0 0 263
ACTC1, GJD2-DT 10 4 187 55 11 0 0 0 258
GATA4 40 4 123 46 32 0 0 0 227
KCNE1 11 8 108 49 31 0 1 25 180
MYBPC3 20 14 88 26 43 0 0 0 180
MYH7 29 22 85 39 9 0 0 1 179
KCNJ5 3 1 110 44 25 0 0 0 177
SMAD6 6 3 127 33 11 0 0 0 176
SNTA1 2 2 122 49 21 0 0 0 169
NKX2-5 44 6 84 30 13 0 0 0 168
GATA6 9 2 88 42 15 0 0 0 150
MED13L 15 4 47 44 20 0 0 1 129
SCN4B 3 0 77 38 4 0 0 0 120
DTNA 2 1 65 35 16 0 0 0 112
CAV3 7 5 61 31 9 0 0 0 104
TBX5 42 8 30 12 8 0 0 0 100
NODAL 8 6 45 16 13 0 0 1 82
NOTCH1 8 11 47 6 5 0 0 2 78
ZIC3 20 2 35 13 6 0 0 0 72
GJA1 2 2 54 5 6 0 0 0 68
LDB3 9 2 45 10 2 0 0 0 66
KCNE2 3 1 42 19 7 0 1 10 59
FOXF1 26 7 9 5 7 0 0 0 53
TPM1 9 7 34 3 1 0 0 2 53
TTN 1 10 26 3 9 0 0 0 49
CALM2 9 10 15 9 2 0 0 0 38
CAV3, SSUH2 7 1 23 7 2 0 0 0 38
FLNA 8 5 23 0 0 0 0 1 36
LOC110121269, SCN5A 2 1 19 7 4 0 1 11 36
CERS1, GDF1 7 4 15 6 5 0 0 0 35
MYH6 2 1 29 2 1 0 0 0 35
NKX2-6 2 1 20 10 3 0 0 0 35
CFAP52 0 0 18 10 6 0 0 0 34
KCNQ1, KCNQ1OT1 6 3 13 11 7 0 0 3 33
CFAP53 2 2 14 4 10 0 0 0 32
TFAP2B 11 1 14 3 4 0 0 0 32
CALM3 5 1 10 10 4 0 0 0 30
NR2F2 8 2 12 6 2 0 0 0 30
TBX20 4 0 21 1 2 0 0 0 26
CALM1 9 2 7 6 2 0 0 0 25
​intergenic 10 5 9 0 0 0 0 0 24
MHRT, MYH7 0 0 15 7 1 0 0 0 23
DSP 2 2 13 1 2 0 0 0 20
MIB1 2 3 4 7 5 0 0 0 18
RYR2 0 2 16 0 0 0 0 0 18
JAG1 5 5 7 0 0 0 0 0 17
ANKRD1 0 0 3 8 9 0 0 0 16
TAB2 9 4 4 0 0 0 0 0 16
LDB3, LOC110121486 1 0 12 1 3 0 0 0 15
PKD1L1 4 1 9 2 0 0 0 0 15
HAND1 0 0 8 1 5 0 0 0 14
DCHS1 3 0 9 0 0 0 0 0 12
ROBO4 2 11 2 0 0 0 0 0 12
TAFAZZIN 0 1 4 5 1 0 0 0 11
ZFPM2 6 0 5 0 0 0 0 0 11
AKAP9, LOC121175350 0 0 7 3 0 0 0 0 10
TBX1 1 2 7 0 0 0 0 0 10
MYRF 0 9 0 0 0 0 0 0 9
GATA5 4 0 3 0 0 0 0 0 7
MMP21 2 4 2 0 0 0 0 0 7
ROBO1 0 4 3 0 0 0 0 0 7
ACTN2 1 0 4 1 0 0 0 0 6
LMNA 3 2 0 0 1 0 0 0 6
MIPEP 1 0 5 0 0 0 0 0 6
CFC1 3 0 0 0 2 0 0 0 5
CITED2 3 1 1 0 0 0 0 0 5
DMD 1 0 2 1 1 0 0 0 5
JUP 0 0 5 0 0 0 0 0 5
MT-CO1 4 1 0 0 0 0 0 0 5
NF1 0 5 0 0 0 0 0 0 5
PKP2 0 2 3 0 0 0 0 0 5
PRDM6 3 0 2 0 0 0 0 0 5
RBM20 1 1 1 0 2 0 0 0 5
BRWD1 0 1 3 0 0 0 0 0 4
CTNNA3 0 0 4 0 0 0 0 0 4
DES 2 1 1 0 0 0 0 0 4
MAPK1 4 0 0 0 0 0 0 0 4
MYPN 0 0 3 1 0 0 0 0 4
NEXN 0 1 2 1 0 0 0 0 4
TLL1 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
CHD7 0 1 2 0 0 0 0 0 3
DNASE1L1, TAFAZZIN 0 0 1 1 1 0 0 0 3
DSG2 0 0 2 1 0 0 0 0 3
HCN4 0 0 1 0 2 0 0 0 3
JPH2 0 0 2 0 1 0 0 0 3
LAMA4 0 0 1 2 0 0 0 0 3
LOC114827851, MYH6 0 0 3 0 0 0 0 0 3
MT-CO3 3 0 0 0 0 0 0 0 3
TNNC1 0 1 2 0 0 0 0 0 3
ABCC8 0 2 0 0 0 0 0 0 2
ACTC1 0 0 2 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
DIP2A 0 0 1 1 0 0 0 0 2
DPH2 0 0 2 0 0 0 0 0 2
DSC2 0 0 1 1 0 0 0 0 2
DYNC2H1 0 1 1 0 0 0 0 0 2
EPHB4 0 2 0 0 0 0 0 0 2
GATA4, LOC110120689, LOC110121280, LOC110121281, LOC111365225, SNORA99 1 0 1 0 0 0 0 0 2
GATA4, LOC110121280 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
KCNE1, KCNE2, SMIM11A 0 0 2 0 0 0 0 0 2
KCNH2, LOC110121275 1 0 1 0 0 0 0 0 2
KCNQ1, KCNQ1OT1, LOC106783508 1 1 0 0 0 0 0 0 2
KIAA1109 1 0 1 0 0 0 0 0 2
KIF21B 0 0 2 0 0 0 0 0 2
LEFTY2 0 0 2 0 0 0 0 0 2
LRP1 0 0 2 0 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 0 2
MYH11 0 0 2 0 0 0 0 0 2
MYLK2 0 0 1 1 0 0 0 0 2
NEK1 0 0 2 0 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
RNF213 0 1 1 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
SOS1 1 0 1 0 0 0 0 0 2
TCAP 0 0 1 0 1 0 0 0 2
TMEM43 0 0 2 0 0 0 0 0 2
TRPM4 0 0 1 1 0 0 0 0 2
UBR5 0 0 2 0 0 0 0 0 2
VCL 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
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CCDC183, CLIC3, CYSRT1, DIPK1B, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM166A, FBXW5, FUT7, GRIN1, INPP5E, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, ZMYND19 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
ABCB7, ACSL4, ACTRT1, ADGRG4, AGTR2, AIFM1, AKAP14, AKAP4, ALAS2, ALG13, AMER1, AMMECR1, AMOT, APEX2, APLN, APOOL, AR, ARAF, ARHGAP36, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ASB12, ATG4A, ATP1B4, ATP6AP2, ATP7A, ATRX, AWAT1, AWAT2, BCOR, BCORL1, BEX1, BEX2, BEX3, BEX4, BEX5, BHLHB9, BMP15, BRS3, BRWD3, BTK, C1GALT1C1, CACNA1F, CAPN6, CASK, CCDC120, CCDC160, CCDC22, CCNB3, CD40LG, CDK16, CDX4, CENPI, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN5, CLDN2, COL4A5, COL4A6, COX7B, CPXCR1, CSTF2, CT45A1, CT45A2, CT45A3, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CT55, CT83, CUL4B, CXCR3, CXorf38, CXorf49, CXorf49B, CXorf65, CYBB, CYLC1, CYSLTR1, DACH2, DANT2, DCAF12L1, DCAF12L2, DCX, DDX3X, DGAT2L6, DGKK, DIAPH2, DIPK2B, DLG3, DMRTC1, DMRTC1B, DNAAF6, DOCK11, DRP2, DUSP21, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, ELF4, ELK1, ENOX2, ERAS, ERCC6L, ESX1, FAAH2, FAM104B, FAM120C, FAM133A, FAM156A, FAM156B, FAM199X, FAM47C, FGD1, FGF16, FHL1, FOXO4, FOXP3, FOXR2, FRMD7, FRMPD3, FTSJ1, FTX, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GLA, GLOD5, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPR101, GPR119, GPR173, GPR174, GPR34, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GSPT2, GUCY2F, H2AP, H2BW1, H2BW2, HDAC6, HDAC8, HDX, HEPH, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HTATSF1, HTR2C, HUWE1, IGBP1, IGSF1, IL13RA1, IL13RA2, IL1RAPL2, IL2RG, INE1, INTS6L, IQSEC2, IRS4, ITGB1BP2, ITIH6, ITM2A, JADE3, JPX, KCND1, KCNE5, KDM5C, KDM6A, KIAA1210, KIF4A, KLF8, KLHL13, KLHL4, KRBOX4, LAMP2, LANCL3, LAS1L, LHFPL1, LINC01560, LONRF3, LPAR4, LRCH2, LUZP4, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAOA, MAOB, MAP7D3, MBNL3, MCTS1, MED12, MED14, MID1IP1, MID2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR424, MIR448, MIR502, MIR503, MIR532, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MPC1L, MSN, MTMR8, MTRNR2L10, NALF2, NAP1L2, NAP1L3, NDP, NDUFA1, NDUFB11, NEXMIF, NHSL2, NKAP, NKRF, NLGN3, NONO, NOX1, NRK, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF5, NXT2, NYX, OCRL, OGT, OPHN1, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, PABIR2, PABIR3, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PBDC1, PCDH11X, PCDH19, PCSK1N, PDZD11, PFKFB1, PGAM4, PGK1, PGRMC1, PHF6, PHF8, PHKA1, PIM2, PIN4, PJA1, PLAC1, PLP1, PLP2, PLS3, POF1B, PORCN, POU3F4, PPP1R3F, PQBP1, PRAF2, PRICKLE3, PRPS1, PRR32, PRRG1, PSMD10, PWWP3B, RAB33A, RAB40A, RAB40AL, RAB41, RAB9B, RADX, RAP2C, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL36A, RPL36A-HNRNPH2, RPL39, RPS4X, RPS6KA6, RRAGB, RTL3, RTL4, RTL5, RTL8A, RTL8B, RTL8C, RTL9, SAGE1, SASH3, SATL1, SEPTIN6, SERPINA7, SH2D1A, SH3BGRL, SHROOM4, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A53, SLC35A2, SLC38A5, SLC6A14, SLC7A3, SLC9A6, SLC9A7, SMARCA1, SMC1A, SMIM10, SNORA11, SNX12, SOWAHD, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPX, SRPX2, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STAG2, STARD8, STEEP1, STK26, SUV39H1, SYN1, SYP, SYTL4, SYTL5, TAF1, TAF7L, TAF9B, TBC1D25, TBC1D8B, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEAL9, TCP11X2, TENM1, TENT5D, TEX11, TEX13A, TEX13B, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TMEM164, TMEM255A, TMEM31, TMEM35A, TMSB15A, TMSB15B, TNMD, TRMT2B, TRO, TRPC5, TRPC5OS, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, UBA1, UBE2A, UBQLN2, UPF3B, UPRT, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VGLL1, VSIG1, VSIG4, WAS, WDR13, WDR44, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC18, ZDHHC15, ZDHHC9, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF674, ZNF711, ZNF75D, ZNF81, ZXDA, ZXDB 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
ABCC6, NOMO3 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, NLRX1, PDZD3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 0 0 0 1
ABHD11, CLDN3, CLDN4, EIF4H, ELN, LIMK1, METTL27, TMEM270 1 0 0 0 0 0 0 0 1
ACAA1, ACVR2B, CTDSPL, DLEC1, EXOG, ITGA9, MIR26A1, MYD88, OXSR1, PLCD1, SCN10A, SCN11A, SCN5A, SLC22A13, SLC22A14, VILL, XYLB 0 0 1 0 0 0 0 0 1
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 1 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
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
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
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, 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
ALPK3 0 0 1 0 0 0 0 0 1
ANKRD31 0 0 0 1 0 0 0 0 1
APBA2, ATP10A, CYFIP1, FAM189A1, 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
ARF1, BTNL10, C1orf35, GJC2, GUK1, H2AW, H2BU1, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 0 0 0 0 0 1
ARHGAP22 0 0 0 1 0 0 0 0 1
ARID1A 0 0 1 0 0 0 0 0 1
ARL13B 0 0 0 1 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
ASXL3 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
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
BAG3 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
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
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 1 0 0 0 0 0 1
CACNA2D1 0 0 1 0 0 0 0 0 1
CACNB2, NSUN6 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
CBL 0 0 1 0 0 0 0 0 1
CCDC103 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
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
CEP85L, PLN 0 0 1 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 1
CLIC6, KCNE1, KCNE2, RCAN1, RUNX1, SMIM11A 0 0 1 0 0 0 0 0 1
COL1A2 0 0 1 0 0 0 0 0 1
COL5A1 0 0 1 0 0 0 0 0 1
COL5A2 0 0 1 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 0 0 1
CRELD1 0 0 1 0 0 0 0 0 1
CTRL 0 0 0 1 0 0 0 0 1
DDB1 0 0 1 0 0 0 0 0 1
DGCR6, PRODH, USP18 0 0 1 0 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 1
DNA2 0 0 0 1 0 0 0 0 1
DPY19L1, NPSR1, TBX20 0 0 1 0 0 0 0 0 1
DSG1 0 1 0 0 0 0 0 0 1
DZIP1 1 0 0 0 0 0 0 0 1
EIF4EBP2, NODAL, PALD1, PRF1 0 0 1 0 0 0 0 0 1
ELMOD2 0 0 0 1 0 0 0 0 1
ELN, LOC113748410 1 0 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
EYA4 0 0 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 0 0 1
FBN3 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 0 0 0 1 0 0 0 0 1
FHL2 0 0 1 0 0 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 0 0 1
FLNC 1 0 0 0 0 0 0 0 1
FLVCR2 0 0 1 0 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 0 1
FOXP4 0 1 0 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
GLMN 1 0 0 0 0 0 0 0 1
GPATCH2 0 0 0 1 0 0 0 0 1
GPD1L 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
HRAS, LRRC56 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
IRX4 0 0 1 0 0 0 0 0 1
ISL1 0 0 1 0 0 0 0 0 1
KIF11 0 0 0 1 0 0 0 0 1
KLF12 0 0 1 0 0 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 0 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 0 0 0 0 0 1
LOC101927055, TTN 0 0 0 0 1 0 0 0 1
LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC120851201, MIR4251, PRDM16 0 0 1 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 1
LOC114827851, MYH7 0 0 0 1 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
LRRC38, PDPN 0 0 1 0 0 0 0 0 1
LRRC8E 0 0 0 1 0 0 0 0 1
LSM1 0 0 1 0 0 0 0 0 1
MADD, MYBPC3 1 0 0 0 0 0 0 0 1
MDN1 0 0 0 1 0 0 0 0 1
MEFV 0 1 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
MNS1 1 1 0 0 0 0 0 0 1
MNS1, TEX9 1 0 0 0 0 0 0 0 1
MT-ATP8 1 0 0 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 1 0 0 0 1
MYL2 0 1 0 0 0 0 0 0 1
MYLK 0 0 1 0 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
PDIA2 0 0 1 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
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
PTPRJ 0 0 1 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
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
RNF207 0 1 0 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
RYR1 0 0 1 0 0 0 0 0 1
SCN1B 0 0 0 1 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
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
SLC2A10 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
SOX3 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
TBX4 1 0 0 0 0 0 0 0 1
TBXAS1 0 0 1 0 0 0 0 0 1
TCTN3 0 0 0 1 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
TGFB3 0 0 1 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
TMCO1 1 0 0 0 0 0 0 0 1
TNFRSF13B 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
WDR25 0 0 0 1 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
ZNF526 0 1 0 0 0 0 0 0 1
ZNF626 0 0 1 0 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: 153
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 534 143 3799 1793 704 0 0 0 6973
Illumina Clinical Services Laboratory,Illumina 2 4 1526 500 382 0 0 0 2323
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 892 892
OMIM 337 0 5 0 0 0 1 0 343
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 70 30 71 0 0 0 0 0 171
Fulgent Genetics,Fulgent Genetics 29 7 120 0 0 0 0 0 156
Baylor Genetics 20 11 102 0 0 0 0 0 133
Blueprint Genetics 15 19 89 6 0 0 2 0 131
Medical Research Institute,Tokyo Medical and Dental University 0 17 28 74 0 1 0 0 120
Centre for Mendelian Genomics,University Medical Centre Ljubljana 17 16 61 1 0 0 0 0 95
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 17 15 53 2 2 0 2 0 91
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 38 35 0 0 0 0 1 0 74
CSER _CC_NCGL, University of Washington 1 2 52 9 0 0 0 0 64
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 4 22 31 0 0 0 58
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 4 31 20 0 0 0 56
Mendelics 2 3 24 9 14 0 0 0 52
Integrated Genetics/Laboratory Corporation of America 27 15 0 3 4 0 0 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
Institute of Human Genetics, University of Leipzig Medical Center 5 15 22 3 2 0 0 0 47
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 5 17 20 3 0 0 0 0 45
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 15 16 11 0 0 0 2 0 44
Cytogenetics Laboratory,Banaras Hindu University 16 2 14 3 3 0 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 8 12 16 0 0 0 36
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 6 21 0 0 0 0 0 30
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 30 30
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 3 10 16 0 0 0 30
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 1 10 10 5 0 0 0 28
GeneReviews 23 0 0 0 2 0 0 0 25
Division of Human Genetics,Children's Hospital of Philadelphia 6 6 11 0 0 0 0 0 23
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 4 3 10 3 2 0 0 0 22
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 6 9 0 0 0 0 0 22
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 8 5 9 0 0 0 0 0 22
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 6 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
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 0 0 0 19
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 3 3 12 1 0 0 0 0 19
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 7 3 0 0 0 0 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 18 0 0 0 0 0 18
Johns Hopkins Genomics, Johns Hopkins University 1 2 6 5 4 0 0 0 18
Klaassen Lab,Charite University Medicine Berlin 2 5 11 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
Stankiewicz Research Laboratory, Baylor College of Medicine 17 0 0 0 0 0 0 0 17
New York Genome Center 1 0 15 0 0 0 0 0 16
Phosphorus, Inc. 0 0 12 0 3 0 0 0 15
GenomeConnect, ClinGen 0 0 0 0 0 0 0 15 15
Institute of Human Genetics, Klinikum rechts der Isar 8 6 0 0 0 0 0 0 14
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 12 1 0 0 0 0 0 14
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 5 6 0 1 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
Center for Reproductive Medicine, Peking University Third Hospital 2 6 6 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
Molecular Biology Laboratory, University of Basrah 10 2 0 0 0 0 0 0 12
Yale Center for Mendelian Genomics,Yale University 0 11 0 0 0 0 0 0 11
Genomic Medicine Lab, University of California San Francisco 3 3 5 0 0 0 0 0 11
Center for Medical Genetics Ghent,University of Ghent 3 6 1 0 0 0 0 0 10
Reproductive Health Research and Development,BGI Genomics 0 2 0 0 8 0 0 0 10
Clinical Genetics laboratory, University of Goettingen 0 3 5 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 5 0 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 3 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 3 0 0 0 0 0 0 6
Biotechnology Research Center,Pasteur Institute of Iran 4 2 0 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 3 2 0 0 0 0 0 5
George Lab Vanderbilt University 0 5 0 0 0 0 0 0 5
Clinical Genetics, Erasmus University Medical Center 3 2 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 3 0 0 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 4 0 0 0 0 0 0 5
Clinical Genetics Research Group,Karolinska Institutet 2 0 3 0 0 0 0 0 5
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 3 1 0 0 0 0 0 0 4
Center for Human Genetics,University of Leuven 2 1 0 1 0 0 0 0 4
Heart Center,Academic Medical Center Amsterdam 0 4 0 0 0 0 0 0 4
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 4 0 0 0 0 0 0 0 4
Research Unit of Respiratory Disease,The Second Xiangya Hospital of Central South University 0 1 3 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 1 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 0 0 3
Congenital Heart Disease Genetic Program Lab,American University of Beirut 3 0 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 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
Institute of Human Genetics,University of Wuerzburg 1 1 1 0 0 0 0 0 3
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 3 0 0 0 0 0 0 3
Embryology Laboratory,Victor Chang Cardiac Research Institute 3 0 0 0 0 0 0 0 3
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 1 1 1 0 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 1 0 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 2 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
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 1 1 0 0 0 0 0 2
Neurogenetics Laboratory,Royal Perth Hospital 2 0 0 0 0 0 0 0 2
Department of Medical Biology, Academic Medical Center 0 2 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
Undiagnosed Diseases Network,NIH 0 1 1 0 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 1 0 0 0 0 0 0 2
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 1 1 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 0 0 2
Medical Genetics Laboratory,CHRU Nancy 2 0 0 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
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
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 1 0 0 0 0 0 0 0 1
McDonald Lab; Albert Einstein College of Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 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 Division,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 North-West 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
Hereditary Hearing Loss Research Unit,University of Madras 1 0 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
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 0 0 0 0 0 1
New Leaf Center 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
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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 0 0 0 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
Medical Genetics,American University of Beirut 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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 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 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
Precision Medical Center,Wuhan Children's Hospital 1 0 0 0 0 0 0 0 1
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.