ClinVar Miner

Variants studied for blood platelet disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
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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 affects pathogenic, low penetrance risk factor not provided total
929 707 2589 1644 668 1 2 1 53 6132

Gene and significance breakdown #

Total genes and gene combinations: 167
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance risk factor not provided total
GNE 123 116 353 379 18 1 0 0 12 890
MPL 110 77 162 373 20 0 0 1 0 685
ITGA2B 151 105 263 142 28 0 0 0 0 615
STIM1 14 10 279 211 29 0 0 0 3 537
WAS 86 8 140 234 53 0 0 0 1 510
MYH9 27 30 165 70 119 0 0 0 17 392
NBEAL2 28 23 183 16 31 0 0 0 0 279
ITGB3 85 60 78 14 18 0 0 0 0 222
ADAMTS13 34 23 104 31 15 0 0 0 0 199
ANKRD26 7 17 87 20 85 0 0 0 0 196
ITGA2 0 0 87 24 69 0 0 0 0 180
CD36 17 29 89 2 4 0 0 0 0 126
LOC124418421, STIM1 0 0 70 21 2 0 0 0 0 93
EFCAB13-DT, ITGB3 6 6 47 7 11 0 0 0 0 72
MASTL 0 0 23 11 28 0 0 0 0 62
ACTN1 12 22 28 4 0 0 0 0 0 60
GP1BA 18 20 19 1 2 0 0 0 1 56
TUBB1 7 9 39 1 1 0 0 0 0 52
THPO 9 2 29 6 5 0 0 0 0 49
C10orf55, PLAU 1 0 18 1 23 0 0 0 0 43
GP9 7 5 22 3 6 0 0 0 1 41
GP1BB, SEPT5-GP1BB 8 20 13 1 0 0 0 0 0 39
ITGA2, MOCS2 0 0 1 5 28 0 0 0 0 34
CYCS 3 6 18 4 1 0 0 0 0 29
RUNX1 9 18 2 0 0 0 0 0 0 29
ETV6 8 7 10 1 1 0 0 0 0 25
GFI1B 9 3 13 1 0 0 0 0 0 24
GATA1 4 5 6 2 0 0 0 0 11 23
SLFN14 5 4 15 1 3 0 0 0 0 23
LIX1L, LOC126805851, RBM8A 5 1 1 15 3 0 2 0 2 22
LOC126863137, MYH9 0 3 12 4 4 0 0 0 0 22
MECOM 4 4 13 1 0 0 0 0 0 21
RASGRP2 5 8 5 0 5 0 0 0 0 21
C10orf55, LOC126860960, PLAU 0 0 9 1 9 0 0 0 0 19
GP6 5 1 1 1 12 0 0 0 0 19
VWF 5 2 10 0 0 0 0 0 0 17
INSL6, JAK2 2 1 11 1 1 0 0 0 1 16
LOC126805851, RBM8A 3 1 0 8 5 0 0 0 1 16
RBM8A 5 1 2 7 1 0 0 0 1 16
ACBD5, MASTL 0 0 5 2 8 0 0 0 0 14
FLI1 8 8 3 0 0 0 0 0 0 14
CDC42 8 3 1 2 0 0 0 0 0 13
ITGA2B, LOC130060983 6 3 2 3 1 0 0 0 0 13
ANKRD26, LOC130003554 0 0 5 1 7 0 0 0 0 11
ANO6 7 1 2 0 0 0 0 0 0 10
ETV6, LOC126861452 2 1 7 0 0 0 0 0 0 10
MED12L, P2RY12 5 4 1 0 1 0 0 0 0 10
C10orf55, LOC130004104, PLAU 0 0 3 1 5 0 0 0 0 9
IKZF5 5 5 2 0 0 0 0 0 0 9
ACTB 5 0 3 0 0 0 0 0 0 7
ADAMTS13, LOC130002910 1 0 5 1 0 0 0 0 0 7
CCDC12, NBEAL2 0 0 7 0 0 0 0 0 0 7
FLNA 0 0 5 2 0 0 0 0 0 7
LOC107985033, SLFN14 0 0 3 0 4 0 0 0 0 7
ITGB3, LOC130061043 1 3 2 0 0 0 0 0 0 6
ITGB3, LOC130061044 4 3 0 0 0 0 0 0 0 6
ITGB3, LOC130061045 3 2 2 0 0 0 0 0 0 6
PLA2G4A 5 0 0 1 0 0 0 0 0 6
GP1BA, LOC130060044 1 1 3 0 0 0 0 0 0 5
LOC112695089, MYH9 0 0 4 1 0 0 0 0 0 5
LOC130005165, STIM1 0 0 3 2 0 0 0 0 0 5
RAP1B 5 0 0 0 0 0 0 0 0 5
THBD 0 2 3 0 0 0 0 0 0 5
TUBA8 4 0 1 0 0 0 0 0 0 5
​intergenic 2 1 1 0 0 0 0 0 0 4
FYB1 2 0 2 0 0 0 0 0 0 4
ITGB3, LOC130061041 0 0 3 0 1 0 0 0 0 4
SH2B3 1 1 2 0 1 0 0 0 0 4
TBXAS1 0 2 2 0 0 0 0 0 0 4
TPM4 3 0 1 0 0 0 0 0 0 4
ABCG5, DYNC2LI1 0 0 3 0 0 0 0 0 0 3
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP 2 0 1 0 0 0 0 0 0 3
COL5A1 0 0 3 0 0 0 0 0 0 3
F10 0 1 2 0 0 0 0 0 0 3
GBA1, LOC106627981 2 0 1 0 0 0 0 0 0 3
HOXA11, LOC107126281 0 0 3 0 0 0 0 0 0 3
LYST 0 1 2 0 0 0 0 0 0 3
SRC 1 1 2 0 0 0 0 0 0 3
STXBP2 0 0 3 0 0 0 0 0 0 3
ACVRL1 0 1 1 0 0 0 0 0 0 2
AP3D1 0 0 2 0 0 0 0 0 0 2
CALR 2 0 0 0 0 0 0 0 0 2
CDC42, LOC122056785 0 0 2 0 0 0 0 0 0 2
CLIC6, KCNE1, KCNE2, MRPS6, RCAN1, RUNX1, SLC5A3, SMIM11 0 2 0 0 0 0 0 0 0 2
COL4A4 0 0 2 0 0 0 0 0 0 2
COL5A2 0 0 2 0 0 0 0 0 0 2
EPHB2 1 0 1 0 0 0 0 0 0 2
ERCC6L2 0 2 0 0 0 0 0 0 0 2
F5 0 0 2 0 0 0 0 0 0 2
GGCX 0 0 2 0 0 0 0 0 0 2
GNE, LOC130001749 0 0 1 1 0 0 0 0 0 2
HPS6 0 0 2 0 0 0 0 0 0 2
ITGB3, LOC110121475 0 0 2 0 0 0 0 0 0 2
MCFD2 0 1 1 0 0 0 0 0 0 2
MPIG6B 0 0 2 0 0 0 0 0 0 2
PTPRJ 2 0 0 0 0 0 0 0 0 2
SMAD4 1 0 1 0 0 0 0 0 0 2
SOCS1 0 2 0 0 0 0 0 0 0 2
VPS33B 0 0 2 0 0 0 0 0 0 2
XDH 0 0 2 0 0 0 0 0 0 2
ABCG4, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1, APOA4, APOA5, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, BACE1, BARX2, BCL9L, BLID, BSX, BUD13, C1QTNF5, C2CD2L, CADM1, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FXYD2, FXYD6, FXYD6-FXYD2, GRAMD1B, GRIK4, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IL10RA, JAML, JHY, KCNJ1, KCNJ5, KIRREL3, KMT2A, LINC02873, LOC101929473, MCAM, MFRP, MIR100, MIR125B1, MIRLET7A2, MPZL2, MPZL3, MSANTD2, NECTIN1, NFRKB, NHERF4, NLRX1, NRGN, NXPE2, NXPE4, OAF, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, POU2F3, PRDM10, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SNX19, SORL1, SPA17, SRPRA, ST14, ST3GAL4, STT3A, TAGLN, TBCEL, TBRG1, TECTA, THY1, TIRAP, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TTC36, UBASH3B, UBE4A, UPK2, USP2, VPS11, VSIG2, VWA5A, ZBTB44, ZNF202, ZPR1 0 1 0 0 0 0 0 0 0 1
ABCG5 0 0 1 0 0 0 0 0 0 1
ABCG8 0 0 1 0 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, BLID, BSX, CCDC15, CDON, CHEK1, CLMP, CRTAM, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, GRAMD1B, GRIK4, HEPACAM, HEPN1, HSPA8, HYLS1, IGSF9B, JAM3, JHY, KCNJ1, KCNJ5, KIRREL3, LINC02743, LINC02873, LOC101929473, MIR100, MIR125B1, MIRLET7A2, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SC5D, SCN3B, SIAE, SLC37A2, SNX19, SORL1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBCEL, TBRG1, TECTA, THYN1, TIRAP, TMEM218, TMEM225, TMEM45B, TP53AIP1, UBASH3B, VPS26B, VSIG2, VWA5A, ZBTB44, ZNF202 1 0 0 0 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, CCDC15, CDON, CHEK1, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, HEPACAM, HEPN1, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SIAE, SLC37A2, SNX19, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBRG1, THYN1, TIRAP, TMEM218, TMEM45B, TP53AIP1, VPS26B, VSIG2, ZBTB44 1 0 0 0 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, CDON, CHEK1, DCPS, DDX25, EI24, ETS1, FAM118B, FLI1, FOXRED1, GLB1L2, GLB1L3, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, NCAPD3, NFRKB, NTM, OPCML, PATE1, PATE2, PATE3, PATE4, PRDM10, PUS3, RPUSD4, SNX19, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, THYN1, TIRAP, TMEM45B, TP53AIP1, VPS26B, ZBTB44 1 0 0 0 0 0 0 0 0 1
ACAD8, GLB1L3, IGSF9B, JAM3, LINC02743, NCAPD3, OPCML, SPATA19, THYN1, VPS26B 1 0 0 0 0 0 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CH17-408M7.1, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LINC00624, LINC01138, LINC01719, LINC01731, LINC02805, LINC02806, LIX1L, LOC101927468, LOC106783502, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128419, LOC122128420, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388601, LOC129388602, LOC129388603, LOC129388604, LOC129931326, LOC129931327, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, LOC129931364, LOC129931365, LOC129931366, LOC129931367, MIR5087, MIR6077, MIR6736, NBPF10, NBPF11, NBPF12, NBPF14, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PPIAL4G, PPIAL4H, PRKAB2, RBM8A, RNF115, RNVU1-1, RNVU1-27, RNVU1-3, RNVU1-6, RNVU1-7, RNVU1-8, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRK-CTT2-1, TRN-GTT2-1, TRN-GTT24-1, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1, TXNIP 0 1 0 0 0 0 0 0 0 1
ADAMTS13, LOC130002909 0 0 0 1 0 0 0 0 0 1
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 0 0 0 0 1 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 1 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LINC01719, LIX1L, LOC106783502, LOC108254679, LOC122128419, LOC126805850, LOC126805851, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, MIR6736, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, RNVU1-6, TRE-CTC1-1, TRG-TCC2-1, TRH-GTG1-1, TRK-CTT2-1, TXNIP 1 0 0 0 0 0 0 0 0 1
ANO6, LOC130007724, LOC130007725 1 0 0 0 0 0 0 0 0 1
AP3B1 0 0 1 0 0 0 0 0 0 1
ARAF, CDK16, CFP, EBP, ELK1, FTSJ1, INE1, JADE3, LINC01560, NDUFB11, PORCN, RBM10, RBM3, RGN, RP2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SYN1, TBC1D25, TIMP1, UBA1, USP11, UXT, WAS, WDR13, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 0 0 0 1
ARPC1B 0 0 1 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 0 0 1
ATRN 0 0 1 0 0 0 0 0 0 1
C10orf55, LOC110121485, LOC124416840, LOC124416841, LOC126860959, LOC126860960, LOC126860961, LOC130004104, LOC130004105, LOC130004106, LOC130004107, PLAU 1 0 0 0 0 0 0 0 0 1
CAV1 0 0 1 0 0 0 0 0 0 1
CBR1, RUNX1, SETD4 1 0 0 0 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 0 1
CIITA 0 0 1 0 0 0 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 0 0 0 0 1
CUX2, SH2B3 1 0 0 1 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 0 0 1
DIAPH1 0 0 0 0 0 0 0 0 1 1
ETS1 1 0 0 0 0 0 0 0 0 1
ETV6, LOC126861451 0 1 0 0 0 0 0 0 0 1
F11 1 0 0 0 0 0 0 0 0 1
F13A1 0 0 1 0 0 0 0 0 0 1
F7 0 0 1 0 0 0 0 0 0 1
F8 0 1 0 0 0 0 0 0 0 1
FASN 0 0 1 0 0 0 0 0 0 1
FGA 0 0 1 0 0 0 0 0 0 1
FGB 0 0 1 0 0 0 0 0 0 1
FGG 0 1 0 0 0 0 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 0 0 0 1
GBA1 0 1 0 0 0 0 0 0 0 1
HOXA11 1 0 0 0 0 0 0 0 0 1
HPS3 0 0 1 0 0 0 0 0 0 1
HPS5, LOC130005404 0 0 1 0 0 0 0 0 0 1
HPS6, LOC130004578 0 0 1 0 0 0 0 0 0 1
HRG 0 0 0 1 0 0 0 0 0 1
KLKB1 0 0 1 0 0 0 0 0 0 1
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 0 0 0 1
LOC130000295, PLAT 0 0 1 0 0 0 0 0 0 1
LOC130003555, MASTL 0 0 1 0 0 0 0 0 0 1
LOC130009564, NBEA 0 0 1 0 0 0 0 0 0 1
LOC130058479, SOCS1 0 1 0 0 0 0 0 0 0 1
LPA 0 0 1 0 0 0 0 0 0 1
NSD2 1 0 0 0 0 0 0 0 0 1
P2RX1 0 0 1 0 0 0 0 0 0 1
PCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@ 0 0 1 0 0 0 0 0 0 1
PCID2, PROZ 0 0 1 0 0 0 0 0 0 1
PGAP2, RHOG, STIM1 0 0 1 0 0 0 0 0 0 1
PLAT 0 0 1 0 0 0 0 0 0 1
PLCB2 0 0 1 0 0 0 0 0 0 1
PLG 0 0 1 0 0 0 0 0 0 1
PRKACG 1 0 0 0 0 0 0 0 0 1
PROS1 0 1 0 0 0 0 0 0 0 1
PTPN11 0 1 0 0 0 0 0 0 0 1
SERPINC1 0 0 1 0 0 0 0 0 0 1
SLC45A2 0 0 1 0 0 0 0 0 0 1
TPP2 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 130
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance risk factor not provided total
Invitae 319 69 948 1316 140 0 2 0 0 2794
Illumina Laboratory Services, Illumina 7 8 875 204 469 0 0 0 0 1554
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 207 133 142 23 34 0 0 0 0 539
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 101 121 149 6 1 0 0 0 0 374
Fulgent Genetics, Fulgent Genetics 28 14 126 103 11 0 0 0 0 282
OMIM 224 0 2 0 0 0 0 1 0 227
NIHR Bioresource Rare Diseases, University of Cambridge 49 100 59 0 0 0 0 0 0 205
Natera, Inc. 24 8 81 17 11 0 0 0 0 141
Birmingham Platelet Group; University of Birmingham 20 26 86 2 0 0 0 0 0 134
Genome-Nilou Lab 2 1 3 1 117 0 0 0 0 124
Baylor Genetics 42 31 43 0 0 0 0 0 0 116
Counsyl 6 44 41 5 2 0 0 0 0 98
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 52 17 0 1 0 0 0 0 0 70
Revvity Omics, Revvity 5 19 26 2 0 0 0 0 0 52
Myriad Genetics, Inc. 6 46 0 0 0 0 0 0 0 52
Neuberg Centre For Genomic Medicine, NCGM 10 9 26 0 0 0 0 0 0 45
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 4 36 0 0 0 0 0 0 44
GeneReviews 1 0 0 0 0 0 0 0 39 40
Genetics and Molecular Pathology, SA Pathology 7 9 21 2 1 0 0 0 0 40
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 13 15 0 1 0 0 0 0 34
3billion 14 7 10 0 0 0 0 0 0 31
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 26 0 1 0 0 0 0 28
Johns Hopkins Genomics, Johns Hopkins University 3 2 15 3 0 0 0 0 0 23
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 4 8 11 0 0 0 0 0 0 23
Mendelics 10 1 2 2 6 0 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 4 11 0 0 0 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 15 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 3 9 1 0 0 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 6 0 0 0 0 0 0 0 13
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 9 0 0 0 0 0 0 13
Division of Human Genetics, Children's Hospital of Philadelphia 1 4 6 1 0 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 7 0 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 7 3 0 1 0 0 0 0 0 11
Hematology laboratory, Robert Debré Hospital 0 11 0 0 0 0 0 0 0 11
MGZ Medical Genetics Center 1 4 5 0 0 0 0 0 0 10
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine 7 1 1 0 0 0 0 0 0 9
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 4 4 1 0 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 8 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 3 2 0 0 0 0 0 0 8
Reproductive Health Research and Development, BGI Genomics 4 3 0 0 1 0 0 0 0 8
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 1 5 0 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 3 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 1 0 0 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 3 2 0 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 3 0 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 1 0 0 0 0 0 0 6
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 2 2 2 0 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 0 0 0 5
Bone Marrow Failure laboratory, Queen Mary University London 2 3 0 0 0 0 0 0 0 5
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 4 0 0 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 1 0 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 3 0 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 0 0 0 5
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 2 0 0 0 0 0 1 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 3 0 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 3 0 0 0 0 0 0 0 4
Immunogenetics of Pediatric Autoimmune Diseases, Institut Imagine 1 3 0 0 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 4 4
Suma Genomics 3 0 1 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 0 0 3
Sema4, Sema4 2 0 1 0 0 0 0 0 0 3
Akiko Shimamura Lab, Fred Hutchinson Cancer Research Center 2 1 0 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 3 0 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 0 0 0 3
GenePathDx, GenePath diagnostics 2 1 0 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 0 0 3
Department of Hematology, 303rd Hospital of the People's Liberation Army 3 0 0 0 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 1 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 0 1 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 0 0 0 2
Department of Pediatrics, Third Xiangya Hospital of Central South University 0 2 0 0 0 0 0 0 0 2
Clinical Genetics Branch, National Institutes of Health 0 2 0 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 1 1 0 0 0 0 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 1 0 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 2 2
Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz 2 0 0 0 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 0 1 0 0 0 0 0 0 2
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 0 1 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 0 1
dbVar 1 0 0 0 0 0 0 0 0 1
Northern Blood Research Centre, University of Sydney 1 0 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 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 0 0 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics, Emory University 1 0 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 0 0 1
Division of Genetic Medicine, Lausanne University Hospital 1 0 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 0 0 0 1
UCSD Department of Pediatrics, University of California, San Diego 1 0 0 0 0 0 0 0 0 1
Platelet Disorders/Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, U Cincinnati College of Medicine 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 0 0 1
Godley laboratory, The University of Chicago 1 0 0 0 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 0 0 0 1
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital 0 0 1 0 0 0 0 0 0 1
DASA 1 0 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, Hospital Puerta de Hierro-Majadahonda 1 0 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 0 0 1
Ledgerwood and Morison Labs, University of Otago 0 1 0 0 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 0 0 0 1

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